maple syrup urine disease maple_syrup_urine_disease Maple Syrup Urine Disease BCKDHB DOID:9269 mevalonic aciduria mevalonic_aciduria Mevalonic Aciduria MVK DOID:0050452 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 PTPN11 DOID:3490 carnitine palmitoyltransferase ii deficiency, infantile carnitine_palmitoyltransferase_ii_deficiency_infantile Carnitine Palmitoyltransferase Ii Deficiency, Infantile CPT2 DOID:0060235 megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic_leukoencephalopathy_with_subcortical_cysts_1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 MLC1 crigler-najjar syndrome, type i crigler_najjar_syndrome_type_i Crigler-Najjar Syndrome, Type I UGT1A1 DOID:3803 anemia, nonspherocytic hemolytic, due to g6pd deficiency anemia_nonspherocytic_hemolytic_due_to_g6pd_deficiency Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency G6PD DOID:13628 cystic fibrosis cystic_fibrosis Cystic Fibrosis CFTR DOID:1485 phenylketonuria phenylketonuria Phenylketonuria PAH DOID:9281 autoimmune lymphoproliferative syndrome autoimmune_lymphoproliferative_syndrome Autoimmune Lymphoproliferative Syndrome FASLG DOID:6688 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant ceroid_lipofuscinosis_neuronal_8_northern_epilepsy_variant Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant CLN8 DOID:0110724 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 KCNQ1 DOID:0110644 ataxia-telangiectasia ataxia_telangiectasia_2 Ataxia-Telangiectasia ATM DOID:12704 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e IGHMBP2 DOID:0110171 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 INPP5E DOID:0110980 rett syndrome rett_syndrome Rett Syndrome MECP2 DOID:1206 werner syndrome werner_syndrome Werner Syndrome WRN DOID:5688 bloom syndrome bloom_syndrome Bloom Syndrome BLM DOID:2717 creutzfeldt-jakob disease creutzfeldt_jakob_disease Creutzfeldt-Jakob Disease PRNP DOID:5435 multiple self-healing squamous epithelioma multiple_self_healing_squamous_epithelioma_2 Multiple Self-Healing Squamous Epithelioma TGFBR1 ellis-van creveld syndrome ellis_van_creveld_syndrome Ellis-Van Creveld Syndrome EVC2 DOID:12714 caspase 8 deficiency caspase_8_deficiency_2 Caspase 8 Deficiency CASP8 DOID:0110116 wiskott-aldrich syndrome wiskott_aldrich_syndrome Wiskott-Aldrich Syndrome WAS DOID:9169 smith-lemli-opitz syndrome smith_lemli_opitz_syndrome Smith-Lemli-Opitz Syndrome DHCR7 DOID:14692 pseudoxanthoma elasticum pseudoxanthoma_elasticum Pseudoxanthoma Elasticum ABCC6 DOID:2738 norrie disease norrie_disease Norrie Disease NDP DOID:0060844 peutz-jeghers syndrome peutz_jeghers_syndrome Peutz-Jeghers Syndrome STK11 DOID:3852 velocardiofacial syndrome velocardiofacial_syndrome Velocardiofacial Syndrome TBX1 DOID:12583 wilson disease wilson_disease Wilson Disease ATP7B DOID:893 fabry disease fabry_disease Fabry Disease GLA DOID:14499 ellis-van creveld syndrome ellis_van_creveld_syndrome Ellis-Van Creveld Syndrome EVC DOID:12714 lesch-nyhan syndrome lesch_nyhan_syndrome Lesch-Nyhan Syndrome HPRT1 DOID:1919 dihydropyrimidine dehydrogenase deficiency dihydropyrimidine_dehydrogenase_deficiency Dihydropyrimidine Dehydrogenase Deficiency DPYD DOID:14218 hyperalphalipoproteinemia 1 hyperalphalipoproteinemia_1 Hyperalphalipoproteinemia 1 CETP maple syrup urine disease maple_syrup_urine_disease Maple Syrup Urine Disease BCKDHA DOID:9269 erythrocytosis, familial, 1 erythrocytosis_familial_1 Erythrocytosis, Familial, 1 EPOR DOID:0060652 autoimmune lymphoproliferative syndrome autoimmune_lymphoproliferative_syndrome Autoimmune Lymphoproliferative Syndrome FAS DOID:6688 propionic acidemia propionic_acidemia Propionic Acidemia PCCA DOID:14701 adrenoleukodystrophy adrenoleukodystrophy Adrenoleukodystrophy ABCD1 DOID:10588 chediak-higashi syndrome chediak_higashi_syndrome Chediak-Higashi Syndrome LYST DOID:2935 aarskog-scott syndrome aarskog_scott_syndrome Aarskog-Scott Syndrome FGD1 DOID:6683 argininosuccinic aciduria argininosuccinic_aciduria Argininosuccinic Aciduria ASL DOID:14755 cerebrotendinous xanthomatosis cerebrotendinous_xanthomatosis Cerebrotendinous Xanthomatosis CYP27A1 DOID:4810 phosphoserine aminotransferase deficiency phosphoserine_aminotransferase_deficiency Phosphoserine Aminotransferase Deficiency PSAT1 DOID:0050723 maple syrup urine disease maple_syrup_urine_disease Maple Syrup Urine Disease DBT DOID:9269 canavan disease canavan_disease Canavan Disease ASPA DOID:3613 crouzon syndrome crouzon_syndrome Crouzon Syndrome FGFR2 DOID:2339 malignant hyperthermia 1 malignant_hyperthermia_1 Malignant Hyperthermia 1 RYR1 myelofibrosis myelofibrosis Myelofibrosis MPL DOID:4971 fragile x syndrome fragile_x_syndrome Fragile X Syndrome FMR1 DOID:14261 orotic aciduria orotic_aciduria Orotic Aciduria UMPS DOID:0050833 hemolytic uremic syndrome, atypical 2 hemolytic_uremic_syndrome_atypical_2 Hemolytic Uremic Syndrome, Atypical 2 CD46 pfeiffer syndrome pfeiffer_syndrome Pfeiffer Syndrome FGFR1 DOID:8568 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 WT1 DOID:5176 hyperprolactinemia hyperprolactinemia Hyperprolactinemia PRLR DOID:12700 camurati-engelmann disease camurati_engelmann_disease Camurati-Engelmann Disease TGFB1 DOID:4997 alpha-thalassemia/mental retardation syndrome, x-linked alpha_thalassemia_mental_retardation_syndrome_x_linked Alpha-Thalassemia/mental Retardation Syndrome, X-Linked ATRX von hippel-lindau syndrome von_hippel_lindau_syndrome Von Hippel-Lindau Syndrome VHL DOID:14175 gyrate atrophy of choroid and retina gyrate_atrophy_of_choroid_and_retina Gyrate Atrophy of Choroid and Retina OAT DOID:1415 ribose 5-phosphate isomerase deficiency ribose_5_phosphate_isomerase_deficiency Ribose 5-Phosphate Isomerase Deficiency RPIA hutchinson-gilford progeria syndrome hutchinson_gilford_progeria_syndrome Hutchinson-Gilford Progeria Syndrome LMNA DOID:3911 biotinidase deficiency biotinidase_deficiency Biotinidase Deficiency BTD DOID:856 pendred syndrome pendred_syndrome Pendred Syndrome SLC26A4 DOID:0060744 propionic acidemia propionic_acidemia Propionic Acidemia PCCB DOID:14701 dubin-johnson syndrome dubin_johnson_syndrome Dubin-Johnson Syndrome ABCC2 DOID:12308 beta-thalassemia beta_thalassemia_2 Beta-Thalassemia HBB DOID:12241 spastic paraplegia 43, autosomal recessive spastic_paraplegia_43_autosomal_recessive Spastic Paraplegia 43, Autosomal Recessive C19orf12 DOID:0110795 mulibrey nanism mulibrey_nanism Mulibrey Nanism TRIM37 DOID:0050436 basal cell nevus syndrome basal_cell_nevus_syndrome Basal Cell Nevus Syndrome PTCH1 DOID:2512 cystinuria cystinuria Cystinuria SLC7A9 DOID:9266 popliteal pterygium syndrome popliteal_pterygium_syndrome Popliteal Pterygium Syndrome IRF6 DOID:0060055 steel syndrome steel_syndrome Steel Syndrome COL27A1 juvenile polyposis syndrome juvenile_polyposis_syndrome Juvenile Polyposis Syndrome SMAD4 DOID:0050787 mccune-albright syndrome mccune_albright_syndrome_2 Mccune-Albright Syndrome GNAS DOID:1858 multiple sulfatase deficiency multiple_sulfatase_deficiency Multiple Sulfatase Deficiency SUMF1 DOID:0050441 spinocerebellar ataxia 6 spinocerebellar_ataxia_6 Spinocerebellar Ataxia 6 CACNA1A DOID:0050956 gracile syndrome gracile_syndrome Gracile Syndrome BCS1L leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome SURF1 DOID:3652 lig4 syndrome lig4_syndrome Lig4 Syndrome LIG4 DOID:0060021 rigid spine muscular dystrophy 1 rigid_spine_muscular_dystrophy_1 Rigid Spine Muscular Dystrophy 1 SELENON DOID:0110633 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 MKS1 DOID:0070115 nephrotic syndrome, type 7 nephrotic_syndrome_type_7 Nephrotic Syndrome, Type 7 DGKE spinocerebellar ataxia 21 spinocerebellar_ataxia_21 Spinocerebellar Ataxia 21 TMEM240 DOID:0050972 oculodentodigital dysplasia oculodentodigital_dysplasia Oculodentodigital Dysplasia GJA1 DOID:0060291 beare-stevenson cutis gyrata syndrome beare_stevenson_cutis_gyrata_syndrome Beare-Stevenson Cutis Gyrata Syndrome FGFR2 DOID:0050660 choroideremia choroideremia Choroideremia CHM DOID:9821 roberts syndrome roberts_syndrome Roberts Syndrome ESCO2 DOID:5325 familial mediterranean fever familial_mediterranean_fever Familial Mediterranean Fever MEFV DOID:2987 multiple endocrine neoplasia, type i multiple_endocrine_neoplasia_type_i Multiple Endocrine Neoplasia, Type I MEN1 DOID:10017 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy TREM2 DOID:0090112 peripheral neuropathy, myopathy, hoarseness, and hearing loss peripheral_neuropathy_myopathy_hoarseness_and_hearing_loss Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss MYH14 multiple mitochondrial dysfunctions syndrome 3 multiple_mitochondrial_dysfunctions_syndrome_3 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 DOID:0080135 infantile liver failure syndrome 1 infantile_liver_failure_syndrome_1 Infantile Liver Failure Syndrome 1 LARS hydroxykynureninuria hydroxykynureninuria Hydroxykynureninuria KYNU niemann-pick disease, type b niemann_pick_disease_type_b Niemann-Pick Disease, Type B SMPD1 DOID:0070112 fumarase deficiency fumarase_deficiency Fumarase Deficiency FH lysosomal acid lipase deficiency lysosomal_acid_lipase_deficiency Lysosomal Acid Lipase Deficiency LIPA DOID:14497 lichtenstein-knorr syndrome lichtenstein_knorr_syndrome Lichtenstein-Knorr Syndrome SLC9A1 DOID:0080065 ceroid lipofuscinosis, neuronal, 2 ceroid_lipofuscinosis_neuronal_2_2 Ceroid Lipofuscinosis, Neuronal, 2 TPP1 DOID:0110726 spastic paraplegia 11, autosomal recessive spastic_paraplegia_11_autosomal_recessive Spastic Paraplegia 11, Autosomal Recessive SPG11 DOID:0110764 ceroid lipofuscinosis, neuronal, 1 ceroid_lipofuscinosis_neuronal_1_2 Ceroid Lipofuscinosis, Neuronal, 1 PPT1 DOID:0110721 factor xi deficiency factor_xi_deficiency Factor Xi Deficiency F11 DOID:2229 marden-walker syndrome marden_walker_syndrome Marden-Walker Syndrome PIEZO2 spinocerebellar ataxia 40 spinocerebellar_ataxia_40 Spinocerebellar Ataxia 40 CCDC88C DOID:0050986 danon disease danon_disease Danon Disease LAMP2 DOID:0050437 neurodegeneration with brain iron accumulation 4 neurodegeneration_with_brain_iron_accumulation_4 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 DOID:0110738 nonaka myopathy nonaka_myopathy Nonaka Myopathy GNE pitt-hopkins syndrome pitt_hopkins_syndrome Pitt-Hopkins Syndrome TCF4 DOID:0060488 waisman syndrome waisman_syndrome Waisman Syndrome RAB39B ceroid lipofuscinosis, neuronal, 3 ceroid_lipofuscinosis_neuronal_3 Ceroid Lipofuscinosis, Neuronal, 3 CLN3 DOID:0110731 leukoencephalopathy with vanishing white matter leukoencephalopathy_with_vanishing_white_matter Leukoencephalopathy with Vanishing White Matter EIF2B5 DOID:0060868 juvenile polyposis syndrome juvenile_polyposis_syndrome Juvenile Polyposis Syndrome BMPR1A DOID:0050787 pyruvate dehydrogenase e1-alpha deficiency pyruvate_dehydrogenase_e1_alpha_deficiency Pyruvate Dehydrogenase E1-Alpha Deficiency PDHA1 DOID:3649 rhizomelic chondrodysplasia punctata, type 1 rhizomelic_chondrodysplasia_punctata_type_1_2 Rhizomelic Chondrodysplasia Punctata, Type 1 PEX7 DOID:0110851 fundus albipunctatus fundus_albipunctatus Fundus Albipunctatus RDH5 DOID:11105 lissencephaly 1 lissencephaly_1 Lissencephaly 1 PAFAH1B1 spastic paraplegia 57, autosomal recessive spastic_paraplegia_57_autosomal_recessive Spastic Paraplegia 57, Autosomal Recessive TFG DOID:0110809 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive split_hand_foot_malformation_1_with_sensorineural_hearing_loss_autosomal_recessive Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive DLX5 DOID:0090024 hypocalcemia, autosomal dominant 1 hypocalcemia_autosomal_dominant_1 Hypocalcemia, Autosomal Dominant 1 CASR DOID:0090109 spastic paraplegia 73, autosomal dominant spastic_paraplegia_73_autosomal_dominant Spastic Paraplegia 73, Autosomal Dominant CPT1C DOID:0110818 alport syndrome, autosomal recessive alport_syndrome_autosomal_recessive Alport Syndrome, Autosomal Recessive COL4A3 DOID:0110033 mckusick-kaufman syndrome mckusick_kaufman_syndrome Mckusick-Kaufman Syndrome MKKS glycogen storage disease iv glycogen_storage_disease_iv Glycogen Storage Disease Iv GBE1 DOID:2750 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCA DOID:13636 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia PTPN11 DOID:0050458 gnathodiaphyseal dysplasia gnathodiaphyseal_dysplasia Gnathodiaphyseal Dysplasia ANO5 laurence-moon syndrome laurence_moon_syndrome Laurence-Moon Syndrome PNPLA6 DOID:1930 sandhoff disease sandhoff_disease Sandhoff Disease HEXB DOID:3323 pfeiffer syndrome pfeiffer_syndrome Pfeiffer Syndrome FGFR2 DOID:8568 ulnar-mammary syndrome ulnar_mammary_syndrome Ulnar-Mammary Syndrome TBX3 DOID:0060614 chylomicron retention disease chylomicron_retention_disease Chylomicron Retention Disease SAR1B DOID:0060357 spinocerebellar ataxia 28 spinocerebellar_ataxia_28 Spinocerebellar Ataxia 28 AFG3L2 DOID:0050977 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome CDKN1C DOID:5572 brachydactyly-syndactyly syndrome brachydactyly_syndactyly_syndrome Brachydactyly-Syndactyly Syndrome HOXD13 DOID:0050689 isovaleric acidemia isovaleric_acidemia Isovaleric Acidemia IVD DOID:14753 ras-associated autoimmune leukoproliferative disorder ras_associated_autoimmune_leukoproliferative_disorder Ras-Associated Autoimmune Leukoproliferative Disorder NRAS DOID:0110117 pancreatitis, hereditary pancreatitis_hereditary Pancreatitis, Hereditary SPINK1 costello syndrome costello_syndrome Costello Syndrome HRAS DOID:0050469 sialuria sialuria Sialuria GNE DOID:3659 sneddon syndrome sneddon_syndrome Sneddon Syndrome ADA2 DOID:13096 acromesomelic dysplasia, maroteaux type acromesomelic_dysplasia_maroteaux_type Acromesomelic Dysplasia, Maroteaux Type NPR2 DOID:0080050 hypophosphatasia, childhood hypophosphatasia_childhood Hypophosphatasia, Childhood ALPL DOID:0110915 spinocerebellar ataxia 26 spinocerebellar_ataxia_26 Spinocerebellar Ataxia 26 EEF2 DOID:0050975 menkes disease menkes_disease Menkes Disease ATP7A DOID:1838 hartnup disorder hartnup_disorder Hartnup Disorder SLC6A19 DOID:1060 campomelic dysplasia campomelic_dysplasia Campomelic Dysplasia SOX9 DOID:0050463 epidermolytic hyperkeratosis epidermolytic_hyperkeratosis Epidermolytic Hyperkeratosis KRT10 DOID:4603 barth syndrome barth_syndrome Barth Syndrome TAZ DOID:0050476 fatal familial insomnia fatal_familial_insomnia Fatal Familial Insomnia PRNP DOID:0050433 incontinentia pigmenti incontinentia_pigmenti Incontinentia Pigmenti IKBKG DOID:12305 epileptic encephalopathy, early infantile, 36 epileptic_encephalopathy_early_infantile_36 Epileptic Encephalopathy, Early Infantile, 36 ALG13 DOID:0050570 autoimmune interstitial lung, joint, and kidney disease autoimmune_interstitial_lung_joint_and_kidney_disease Autoimmune Interstitial Lung, Joint, and Kidney Disease COPA microtia, hearing impairment, and cleft palate microtia_hearing_impairment_and_cleft_palate Microtia, Hearing Impairment, and Cleft Palate HOXA2 charcot-marie-tooth disease, x-linked dominant, 6 charcot_marie_tooth_disease_x_linked_dominant_6 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 PDK3 DOID:0110207 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs 46xx_sex_reversal_with_dysgenesis_of_kidneys_adrenals_and_lungs 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs WNT4 epilepsy, progressive myoclonic, 9 epilepsy_progressive_myoclonic_9 Epilepsy, Progressive Myoclonic, 9 LMNB2 epileptic encephalopathy, early infantile, 6 epileptic_encephalopathy_early_infantile_6 Epileptic Encephalopathy, Early Infantile, 6 SCN1A DOID:0060171 epilepsy, progressive myoclonic, 10 epilepsy_progressive_myoclonic_10_2 Epilepsy, Progressive Myoclonic, 10 PRDM8 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_abnormalities Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities ITM2B myopathy, isolated mitochondrial, autosomal dominant myopathy_isolated_mitochondrial_autosomal_dominant Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 epilepsy, progressive myoclonic, 8 epilepsy_progressive_myoclonic_8 Epilepsy, Progressive Myoclonic, 8 CERS1 dyskeratosis congenita, autosomal dominant 6 dyskeratosis_congenita_autosomal_dominant_6 Dyskeratosis Congenita, Autosomal Dominant 6 ACD DOID:0070023 hereditary leiomyomatosis and renal cell cancer hereditary_leiomyomatosis_and_renal_cell_cancer Hereditary Leiomyomatosis and Renal Cell Cancer FH alopecia, neurologic defects, and endocrinopathy syndrome alopecia_neurologic_defects_and_endocrinopathy_syndrome Alopecia, Neurologic Defects, and Endocrinopathy Syndrome RBM28 hemochromatosis, type 1 hemochromatosis_type_1_2 Hemochromatosis, Type 1 HFE DOID:2352 combined oxidative phosphorylation deficiency 21 combined_oxidative_phosphorylation_deficiency_21 Combined Oxidative Phosphorylation Deficiency 21 TARS2 combined oxidative phosphorylation deficiency 25 combined_oxidative_phosphorylation_deficiency_25 Combined Oxidative Phosphorylation Deficiency 25 MARS2 bleeding disorder, platelet-type, 18 bleeding_disorder_platelet_type_18 Bleeding Disorder, Platelet-Type, 18 RASGRP2 DOID:0111051 monilethrix monilethrix Monilethrix KRT86 DOID:0050472 mental retardation, x-linked, syndromic 32 mental_retardation_x_linked_syndromic_32 Mental Retardation, X-Linked, Syndromic 32 CLIC2 DOID:0060828 cardiac conduction disease with or without dilated cardiomyopathy cardiac_conduction_disease_with_or_without_dilated_cardiomyopathy Cardiac Conduction Disease with or Without Dilated Cardiomyopathy TNNI3K combined oxidative phosphorylation deficiency 19 combined_oxidative_phosphorylation_deficiency_19 Combined Oxidative Phosphorylation Deficiency 19 LYRM4 dystonia 12 dystonia_12 Dystonia 12 ATP1A3 DOID:0090056 xeroderma pigmentosum, variant type xeroderma_pigmentosum_variant_type Xeroderma Pigmentosum, Variant Type POLH DOID:0110847 al-gazali-bakalinova syndrome al_gazali_bakalinova_syndrome Al-Gazali-Bakalinova Syndrome KIF7 glycogen storage disease xv glycogen_storage_disease_xv Glycogen Storage Disease Xv GYG1 DOID:0050579 thyroid carcinoma, familial medullary thyroid_carcinoma_familial_medullary Thyroid Carcinoma, Familial Medullary RET DOID:3973 spondyloepimetaphyseal dysplasia, aggrecan type spondyloepimetaphyseal_dysplasia_aggrecan_type Spondyloepimetaphyseal Dysplasia, Aggrecan Type ACAN larsen syndrome larsen_syndrome Larsen Syndrome FLNB DOID:14764 cutaneous telangiectasia and cancer syndrome, familial cutaneous_telangiectasia_and_cancer_syndrome_familial Cutaneous Telangiectasia and Cancer Syndrome, Familial ATR orofaciodigital syndrome xiv orofaciodigital_syndrome_xiv Orofaciodigital Syndrome Xiv C2CD3 pycnodysostosis pycnodysostosis Pycnodysostosis CTSK DOID:0080038 ataxia-telangiectasia-like disorder 2 ataxia_telangiectasia_like_disorder_2 Ataxia-Telangiectasia-Like Disorder 2 PCNA bleeding disorder, platelet-type, 19 bleeding_disorder_platelet_type_19 Bleeding Disorder, Platelet-Type, 19 PRKACG DOID:0111048 polymicrogyria, bilateral temporooccipital polymicrogyria_bilateral_temporooccipital Polymicrogyria, Bilateral Temporooccipital FIG4 sotos syndrome 1 sotos_syndrome_1 Sotos Syndrome 1 NSD1 DOID:14748 blepharophimosis, ptosis, and epicanthus inversus blepharophimosis_ptosis_and_epicanthus_inversus Blepharophimosis, Ptosis, and Epicanthus Inversus FOXL2 DOID:14778 beukes hip dysplasia beukes_hip_dysplasia Beukes Hip Dysplasia UFSP2 liddle syndrome liddle_syndrome Liddle Syndrome SCNN1B DOID:0050477 peeling skin syndrome 3 peeling_skin_syndrome_3 Peeling Skin Syndrome 3 CHST8 seckel syndrome 7 seckel_syndrome_7 Seckel Syndrome 7 NIN DOID:0070011 episodic pain syndrome, familial, 1 episodic_pain_syndrome_familial_1 Episodic Pain Syndrome, Familial, 1 TRPA1 episodic ataxia, type 2 episodic_ataxia_type_2_2 Episodic Ataxia, Type 2 CACNA1A DOID:0050990 carnitine-acylcarnitine translocase deficiency carnitine_acylcarnitine_translocase_deficiency Carnitine-Acylcarnitine Translocase Deficiency SLC25A20 succinic semialdehyde dehydrogenase deficiency succinic_semialdehyde_dehydrogenase_deficiency Succinic Semialdehyde Dehydrogenase Deficiency ALDH5A1 DOID:0060175 niemann-pick disease, type a niemann_pick_disease_type_a Niemann-Pick Disease, Type a SMPD1 DOID:0070111 immunodeficiency, common variable, 11 immunodeficiency_common_variable_11 Immunodeficiency, Common Variable, 11 IL21 spinocerebellar ataxia 41 spinocerebellar_ataxia_41 Spinocerebellar Ataxia 41 TRPC3 coloboma of optic nerve coloboma_of_optic_nerve Coloboma of Optic Nerve PAX6 DOID:11975 microcephaly 10, primary, autosomal recessive microcephaly_10_primary_autosomal_recessive Microcephaly 10, Primary, Autosomal Recessive ZNF335 spastic ataxia 4, autosomal recessive spastic_ataxia_4_autosomal_recessive Spastic Ataxia 4, Autosomal Recessive MTPAP sensory ataxic neuropathy, dysarthria, and ophthalmoparesis sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG central core disease of muscle central_core_disease_of_muscle Central Core Disease of Muscle RYR1 immunodeficiency 22 immunodeficiency_22 Immunodeficiency 22 LCK aromatic l-amino acid decarboxylase deficiency aromatic_l_amino_acid_decarboxylase_deficiency Aromatic L-Amino Acid Decarboxylase Deficiency DDC DOID:0090123 immunodeficiency 16 immunodeficiency_16 Immunodeficiency 16 TNFRSF4 van der woude syndrome 1 van_der_woude_syndrome_1 Van Der Woude Syndrome 1 IRF6 DOID:0060239 bethlem myopathy 1 bethlem_myopathy_1 Bethlem Myopathy 1 COL6A1 DOID:0050663 myopathy, scapulohumeroperoneal myopathy_scapulohumeroperoneal Myopathy, Scapulohumeroperoneal ACTA1 spastic paraplegia 4, autosomal dominant spastic_paraplegia_4_autosomal_dominant Spastic Paraplegia 4, Autosomal Dominant SPAST DOID:0110792 spermatogenic failure 6 spermatogenic_failure_6 Spermatogenic Failure 6 SPATA16 DOID:0111156 combined d-2- and l-2-hydroxyglutaric aciduria combined_d_2_and_l_2_hydroxyglutaric_aciduria Combined D-2- and L-2-Hydroxyglutaric Aciduria SLC25A1 bethlem myopathy 1 bethlem_myopathy_1 Bethlem Myopathy 1 COL6A3 DOID:0050663 bethlem myopathy 1 bethlem_myopathy_1 Bethlem Myopathy 1 COL6A2 DOID:0050663 ullrich congenital muscular dystrophy 1 ullrich_congenital_muscular_dystrophy_1 Ullrich Congenital Muscular Dystrophy 1 COL6A1 DOID:0050558 thrombocytopenia 6 thrombocytopenia_6 Thrombocytopenia 6 SRC tyrosinemia, type i tyrosinemia_type_i_2 Tyrosinemia, Type I FAH DOID:0050726 mitochondrial dna depletion syndrome 13 mitochondrial_dna_depletion_syndrome_13 Mitochondrial Dna Depletion Syndrome 13 FBXL4 DOID:0080131 alagille syndrome 1 alagille_syndrome_1 Alagille Syndrome 1 JAG1 DOID:9245 ceroid lipofuscinosis, neuronal, 5 ceroid_lipofuscinosis_neuronal_5_2 Ceroid Lipofuscinosis, Neuronal, 5 CLN5 DOID:0110728 ullrich congenital muscular dystrophy 1 ullrich_congenital_muscular_dystrophy_1 Ullrich Congenital Muscular Dystrophy 1 COL6A2 DOID:0050558 severe combined immunodeficiency, x-linked severe_combined_immunodeficiency_x_linked Severe Combined Immunodeficiency, X-Linked IL2RG DOID:0060013 treacher collins syndrome 1 treacher_collins_syndrome_1 Treacher Collins Syndrome 1 TCOF1 DOID:2908 mitochondrial dna depletion syndrome 4a mitochondrial_dna_depletion_syndrome_4a_alpers_type Mitochondrial Dna Depletion Syndrome 4a POLG DOID:1442 ullrich congenital muscular dystrophy 1 ullrich_congenital_muscular_dystrophy_1 Ullrich Congenital Muscular Dystrophy 1 COL6A3 DOID:0050558 combined malonic and methylmalonic aciduria combined_malonic_and_methylmalonic_aciduria Combined Malonic and Methylmalonic Aciduria ACSF3 osteogenesis imperfecta, type i osteogenesis_imperfecta_type_i_2 Osteogenesis Imperfecta, Type I COL1A1 DOID:0110334 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis short_stature_onychodysplasia_facial_dysmorphism_and_hypotrichosis Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis POC1A isobutyryl-coa dehydrogenase deficiency isobutyryl_coa_dehydrogenase_deficiency Isobutyryl-Coa Dehydrogenase Deficiency ACAD8 nail-patella syndrome nail_patella_syndrome Nail-Patella Syndrome LMX1B DOID:9467 neurofibromatosis-noonan syndrome neurofibromatosis_noonan_syndrome Neurofibromatosis-Noonan Syndrome NF1 lysinuric protein intolerance lysinuric_protein_intolerance Lysinuric Protein Intolerance SLC7A7 DOID:0060439 multiple endocrine neoplasia, type iia multiple_endocrine_neoplasia_type_iia Multiple Endocrine Neoplasia, Type Iia RET DOID:0050430 multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple_congenital_anomalies_hypotonia_seizures_syndrome_1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 PIGN DOID:0080138 salla disease salla_disease Salla Disease SLC17A5 achondrogenesis, type ib achondrogenesis_type_ib_2 Achondrogenesis, Type Ib SLC26A2 DOID:0080055 postaxial acrofacial dysostosis postaxial_acrofacial_dysostosis Postaxial Acrofacial Dysostosis DHODH greig cephalopolysyndactyly syndrome greig_cephalopolysyndactyly_syndrome Greig Cephalopolysyndactyly Syndrome GLI3 DOID:14761 spondyloepimetaphyseal dysplasia, matrilin-3 related spondyloepimetaphyseal_dysplasia_matrilin_3_related_2 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related MATN3 DOID:0080027 aspartylglucosaminuria aspartylglucosaminuria Aspartylglucosaminuria AGA DOID:0050461 pelizaeus-merzbacher disease pelizaeus_merzbacher_disease Pelizaeus-Merzbacher Disease PLP1 DOID:3210 perry syndrome perry_syndrome Perry Syndrome DCTN1 DOID:0060486 alport syndrome, autosomal dominant alport_syndrome_autosomal_dominant Alport Syndrome, Autosomal Dominant COL4A3 DOID:0110032 factor v deficiency factor_v_deficiency Factor V Deficiency F5 DOID:2216 holocarboxylase synthetase deficiency holocarboxylase_synthetase_deficiency Holocarboxylase Synthetase Deficiency HLCS DOID:859 sjogren-larsson syndrome sjogren_larsson_syndrome Sjogren-Larsson Syndrome ALDH3A2 DOID:14501 glanzmann thrombasthenia glanzmann_thrombasthenia Glanzmann Thrombasthenia ITGA2B DOID:2219 antithrombin iii deficiency antithrombin_iii_deficiency Antithrombin Iii Deficiency SERPINC1 DOID:3755 hypophosphatemic rickets, autosomal dominant hypophosphatemic_rickets_autosomal_dominant Hypophosphatemic Rickets, Autosomal Dominant FGF23 DOID:0050948 mitochondrial complex ii deficiency mitochondrial_complex_ii_deficiency Mitochondrial Complex Ii Deficiency SDHA DOID:0060537 mal de meleda mal_de_meleda Mal De Meleda SLURP1 DOID:0060862 hypophosphatasia, infantile hypophosphatasia_infantile Hypophosphatasia, Infantile ALPL DOID:0110914 bernard-soulier syndrome bernard_soulier_syndrome Bernard-Soulier Syndrome GP9 DOID:2217 kindler syndrome kindler_syndrome Kindler Syndrome FERMT1 DOID:0060472 coffin-lowry syndrome coffin_lowry_syndrome Coffin-Lowry Syndrome RPS6KA3 DOID:3783 jackson-weiss syndrome jackson_weiss_syndrome Jackson-Weiss Syndrome FGFR2 cystinuria cystinuria Cystinuria SLC3A1 DOID:9266 gitelman syndrome gitelman_syndrome Gitelman Syndrome SLC12A3 DOID:0050450 lowe oculocerebrorenal syndrome lowe_oculocerebrorenal_syndrome Lowe Oculocerebrorenal Syndrome OCRL DOID:1056 glaucoma 3, primary congenital, a glaucoma_3_primary_congenital_a Glaucoma 3, Primary Congenital, a CYP1B1 DOID:11211 l-2-hydroxyglutaric aciduria l_2_hydroxyglutaric_aciduria L-2-Hydroxyglutaric Aciduria L2HGDH DOID:0050574 alkaptonuria alkaptonuria Alkaptonuria HGD DOID:9270 mental retardation and microcephaly with pontine and cerebellar hypoplasia mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia CASK DOID:0060807 jervell and lange-nielsen syndrome 1 jervell_and_lange_nielsen_syndrome_1 Jervell and Lange-Nielsen Syndrome 1 KCNQ1 DOID:2842 cranioectodermal dysplasia 1 cranioectodermal_dysplasia_1 Cranioectodermal Dysplasia 1 IFT122 DOID:0050577 borjeson-forssman-lehmann syndrome borjeson_forssman_lehmann_syndrome Borjeson-Forssman-Lehmann Syndrome PHF6 DOID:0050681 tangier disease tangier_disease Tangier Disease ABCA1 DOID:1388 tietz albinism-deafness syndrome tietz_albinism_deafness_syndrome Tietz Albinism-Deafness Syndrome MITF DOID:14021 papillon-lefevre syndrome papillon_lefevre_syndrome Papillon-Lefevre Syndrome CTSC DOID:3389 visceral myopathy visceral_myopathy Visceral Myopathy ACTG2 DOID:0060610 vohwinkel syndrome vohwinkel_syndrome Vohwinkel Syndrome GJB2 cleidocranial dysplasia cleidocranial_dysplasia Cleidocranial Dysplasia RUNX2 DOID:13994 choreoacanthocytosis choreoacanthocytosis Choreoacanthocytosis VPS13A DOID:0050766 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii COL1A2 DOID:0110339 bernard-soulier syndrome bernard_soulier_syndrome Bernard-Soulier Syndrome GP1BB DOID:2217 short-rib thoracic dysplasia 3 with or without polydactyly short_rib_thoracic_dysplasia_3_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly DYNC2H1 DOID:0110087 alexander disease alexander_disease Alexander Disease GFAP DOID:4252 chanarin-dorfman syndrome chanarin_dorfman_syndrome Chanarin-Dorfman Syndrome ABHD5 DOID:0050729 cowchock syndrome cowchock_syndrome Cowchock Syndrome AIFM1 DOID:0110212 duane-radial ray syndrome duane_radial_ray_syndrome Duane-Radial Ray Syndrome SALL4 DOID:0060747 hand-foot-genital syndrome hand_foot_genital_syndrome Hand-Foot-Genital Syndrome HOXA13 DOID:0060739 spinocerebellar ataxia 14 spinocerebellar_ataxia_14 Spinocerebellar Ataxia 14 PRKCG DOID:0050964 hypophosphatasia, adult hypophosphatasia_adult Hypophosphatasia, Adult ALPL DOID:0110913 kufor-rakeb syndrome kufor_rakeb_syndrome Kufor-Rakeb Syndrome ATP13A2 DOID:0060556 osteoporosis-pseudoglioma syndrome osteoporosis_pseudoglioma_syndrome Osteoporosis-Pseudoglioma Syndrome LRP5 DOID:0060849 epidermolytic hyperkeratosis epidermolytic_hyperkeratosis Epidermolytic Hyperkeratosis KRT1 DOID:4603 episodic kinesigenic dyskinesia 1 episodic_kinesigenic_dyskinesia_1 Episodic Kinesigenic Dyskinesia 1 PRRT2 DOID:0090053 muckle-wells syndrome muckle_wells_syndrome Muckle-Wells Syndrome NLRP3 DOID:0050854 pseudoachondroplasia pseudoachondroplasia Pseudoachondroplasia COMP DOID:0080047 achondroplasia achondroplasia Achondroplasia FGFR3 DOID:4480 fucosidosis fucosidosis Fucosidosis FUCA1 DOID:14500 apparent mineralocorticoid excess apparent_mineralocorticoid_excess Apparent Mineralocorticoid Excess HSD11B2 DOID:4367 char syndrome char_syndrome Char Syndrome TFAP2B DOID:0060563 hereditary myopathy with early respiratory failure hereditary_myopathy_with_early_respiratory_failure Hereditary Myopathy with Early Respiratory Failure TTN abetalipoproteinemia abetalipoproteinemia Abetalipoproteinemia MTTP DOID:1386 glycerol kinase deficiency glycerol_kinase_deficiency Glycerol Kinase Deficiency GK DOID:0060363 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 SOD1 DOID:332 reticular dysgenesis reticular_dysgenesis Reticular Dysgenesis AK2 DOID:0060020 laron syndrome laron_syndrome Laron Syndrome GHR DOID:9521 spastic ataxia, charlevoix-saguenay type spastic_ataxia_charlevoix_saguenay_type Spastic Ataxia, Charlevoix-Saguenay Type SACS DOID:0050946 charcot-marie-tooth disease, axonal, type 2v charcot_marie_tooth_disease_axonal_type_2v Charcot-Marie-Tooth Disease, Axonal, Type 2v NAGLU DOID:0110178 slowed nerve conduction velocity, autosomal dominant slowed_nerve_conduction_velocity_autosomal_dominant Slowed Nerve Conduction Velocity, Autosomal Dominant ARHGEF10 congenital disorder of glycosylation, type iiq congenital_disorder_of_glycosylation_type_iiq Congenital Disorder of Glycosylation, Type Iiq COG2 charcot-marie-tooth disease, recessive intermediate b charcot_marie_tooth_disease_recessive_intermediate_b_2 Charcot-Marie-Tooth Disease, Recessive Intermediate B KARS DOID:0110204 apert syndrome apert_syndrome Apert Syndrome FGFR2 DOID:12960 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid CEBPA DOID:9119 kniest dysplasia kniest_dysplasia Kniest Dysplasia COL2A1 DOID:0080045 mcleod syndrome mcleod_syndrome Mcleod Syndrome XK spastic paraplegia 72, autosomal recessive spastic_paraplegia_72_autosomal_recessive Spastic Paraplegia 72, Autosomal Recessive REEP2 muscular dystrophy, limb-girdle, type 2a muscular_dystrophy_limb_girdle_type_2a Muscular Dystrophy, Limb-Girdle, Type 2a CAPN3 DOID:0110275 muscular dystrophy, congenital, lmna-related muscular_dystrophy_congenital_lmna_related Muscular Dystrophy, Congenital, Lmna-Related LMNA DOID:0110640 miyoshi muscular dystrophy 1 miyoshi_muscular_dystrophy_1 Miyoshi Muscular Dystrophy 1 DYSF retinal arteries, tortuosity of retinal_arteries_tortuosity_of Retinal Arteries, Tortuosity of COL4A1 porphyria, acute hepatic porphyria_acute_hepatic Porphyria, Acute Hepatic ALAD ataxia-telangiectasia-like disorder 1 ataxia_telangiectasia_like_disorder_1 Ataxia-Telangiectasia-Like Disorder 1 MRE11 factor x deficiency factor_x_deficiency Factor X Deficiency F10 DOID:2222 carnitine palmitoyltransferase i deficiency carnitine_palmitoyltransferase_i_deficiency Carnitine Palmitoyltransferase I Deficiency CPT1A DOID:0090129 peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX1 DOID:0050444 lecithin:cholesterol acyltransferase deficiency lecithincholesterol_acyltransferase_deficiency Lecithin:cholesterol Acyltransferase Deficiency LCAT DOID:1391 spondyloepimetaphyseal dysplasia, strudwick type spondyloepimetaphyseal_dysplasia_strudwick_type Spondyloepimetaphyseal Dysplasia, Strudwick Type COL2A1 DOID:0080028 argininemia argininemia Argininemia ARG1 DOID:9278 lymphangioleiomyomatosis lymphangioleiomyomatosis Lymphangioleiomyomatosis TSC2 DOID:3319 ornithine transcarbamylase deficiency, hyperammonemia due to ornithine_transcarbamylase_deficiency_hyperammonemia_due_to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to OTC DOID:9271 mitochondrial trifunctional protein deficiency mitochondrial_trifunctional_protein_deficiency Mitochondrial Trifunctional Protein Deficiency HADHA fanconi anemia, complementation group d1 fanconi_anemia_complementation_group_d1 Fanconi Anemia, Complementation Group D1 BRCA2 DOID:0111089 stiff skin syndrome stiff_skin_syndrome Stiff Skin Syndrome FBN1 bosch-boonstra-schaaf optic atrophy syndrome bosch_boonstra_schaaf_optic_atrophy_syndrome Bosch-Boonstra-Schaaf Optic Atrophy Syndrome NR2F1 spinocerebellar ataxia 38 spinocerebellar_ataxia_38 Spinocerebellar Ataxia 38 ELOVL5 DOID:0050985 mandibuloacral dysplasia with type a lipodystrophy mandibuloacral_dysplasia_with_type_a_lipodystrophy Mandibuloacral Dysplasia with Type a Lipodystrophy LMNA crigler-najjar syndrome, type ii crigler_najjar_syndrome_type_ii Crigler-Najjar Syndrome, Type Ii UGT1A1 piebald trait piebald_trait Piebald Trait KIT DOID:3263 combined oxidative phosphorylation deficiency 12 combined_oxidative_phosphorylation_deficiency_12 Combined Oxidative Phosphorylation Deficiency 12 EARS2 myopathy, distal, 1 myopathy_distal_1 Myopathy, Distal, 1 MYH7 cardiofaciocutaneous syndrome 1 cardiofaciocutaneous_syndrome_1 Cardiofaciocutaneous Syndrome 1 BRAF DOID:0060233 charcot-marie-tooth disease, demyelinating, type 1b charcot_marie_tooth_disease_demyelinating_type_1b Charcot-Marie-Tooth Disease, Demyelinating, Type 1b MPZ DOID:0110152 myopathy, myofibrillar, 1 myopathy_myofibrillar_1 Myopathy, Myofibrillar, 1 DES DOID:0080092 charcot-marie-tooth disease, type 4a charcot_marie_tooth_disease_type_4a Charcot-Marie-Tooth Disease, Type 4a GDAP1 DOID:0110185 thanatophoric dysplasia, type i thanatophoric_dysplasia_type_i Thanatophoric Dysplasia, Type I FGFR3 DOID:13481 mucolipidosis iv mucolipidosis_iv Mucolipidosis Iv MCOLN1 DOID:2368 myhre syndrome myhre_syndrome Myhre Syndrome SMAD4 kabuki syndrome 1 kabuki_syndrome_1 Kabuki Syndrome 1 KMT2D DOID:0060473 combined oxidative phosphorylation deficiency 8 combined_oxidative_phosphorylation_deficiency_8 Combined Oxidative Phosphorylation Deficiency 8 AARS2 von willebrand disease, type 1 von_willebrand_disease_type_1 Von Willebrand Disease, Type 1 VWF DOID:0060573 tuberous sclerosis 1 tuberous_sclerosis_1_2 Tuberous Sclerosis 1 TSC1 immunodeficiency with hyper-igm, type 2 immunodeficiency_with_hyper_igm_type_2_2 Immunodeficiency with Hyper-Igm, Type 2 AICDA DOID:0060758 cerebral creatine deficiency syndrome 1 cerebral_creatine_deficiency_syndrome_1 Cerebral Creatine Deficiency Syndrome 1 SLC6A8 DOID:0050800 combined oxidative phosphorylation deficiency 3 combined_oxidative_phosphorylation_deficiency_3 Combined Oxidative Phosphorylation Deficiency 3 TSFM andersen cardiodysrhythmic periodic paralysis andersen_cardiodysrhythmic_periodic_paralysis Andersen Cardiodysrhythmic Periodic Paralysis KCNJ2 DOID:0050434 spastic paraplegia 31, autosomal dominant spastic_paraplegia_31_autosomal_dominant Spastic Paraplegia 31, Autosomal Dominant REEP1 DOID:0110782 complement factor h deficiency complement_factor_h_deficiency Complement Factor H Deficiency CFH hyperornithinemia-hyperammonemia-homocitrullinuria syndrome hyperornithinemia_hyperammonemia_homocitrullinuria_syndrome Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome SLC25A15 DOID:0050720 dihydrolipoamide dehydrogenase deficiency dihydrolipoamide_dehydrogenase_e3_deficiency Dihydrolipoamide Dehydrogenase Deficiency DLD gracile bone dysplasia gracile_bone_dysplasia Gracile Bone Dysplasia FAM111A adult syndrome adult_syndrome Adult Syndrome TP63 DOID:0050601 enhanced s-cone syndrome enhanced_s_cone_syndrome Enhanced S-Cone Syndrome NR2E3 DOID:0090059 occult macular dystrophy occult_macular_dystrophy Occult Macular Dystrophy RP1L1 DOID:0050578 glycogen storage disease ia glycogen_storage_disease_ia Glycogen Storage Disease Ia G6PC DOID:2749 ichthyosis, congenital, autosomal recessive 1 ichthyosis_congenital_autosomal_recessive_1 Ichthyosis, Congenital, Autosomal Recessive 1 TGM1 DOID:0060656 melnick-needles syndrome melnick_needles_syndrome Melnick-Needles Syndrome FLNA bietti crystalline corneoretinal dystrophy bietti_crystalline_corneoretinal_dystrophy Bietti Crystalline Corneoretinal Dystrophy CYP4V2 DOID:0050664 glutamate formiminotransferase deficiency glutamate_formiminotransferase_deficiency Glutamate Formiminotransferase Deficiency FTCD leukoencephalopathy with vanishing white matter leukoencephalopathy_with_vanishing_white_matter Leukoencephalopathy with Vanishing White Matter EIF2B2 DOID:0060868 fanconi-bickel syndrome fanconi_bickel_syndrome Fanconi-Bickel Syndrome SLC2A2 coach syndrome coach_syndrome Coach Syndrome TMEM67 caffey disease caffey_disease Caffey Disease COL1A1 DOID:4257 leri-weill dyschondrosteosis leri_weill_dyschondrosteosis Leri-Weill Dyschondrosteosis SHOX DOID:0060847 encephalocraniocutaneous lipomatosis encephalocraniocutaneous_lipomatosis Encephalocraniocutaneous Lipomatosis FGFR1 beta-ureidopropionase deficiency beta_ureidopropionase_deficiency Beta-Ureidopropionase Deficiency UPB1 leukodystrophy, hypomyelinating, 6 leukodystrophy_hypomyelinating_6 Leukodystrophy, Hypomyelinating, 6 TUBB4A DOID:0060798 hartsfield syndrome hartsfield_syndrome Hartsfield Syndrome FGFR1 schimke immunoosseous dysplasia schimke_immunoosseous_dysplasia Schimke Immunoosseous Dysplasia SMARCAL1 DOID:0060490 charcot-marie-tooth disease, type 4b3 charcot_marie_tooth_disease_type_4b3 Charcot-Marie-Tooth Disease, Type 4b3 SBF1 DOID:0110194 thiamine metabolism dysfunction syndrome 2 thiamine_metabolism_dysfunction_syndrome_2 Thiamine Metabolism Dysfunction Syndrome 2 SLC19A3 DOID:0050659 ichthyosis bullosa of siemens ichthyosis_bullosa_of_siemens Ichthyosis Bullosa of Siemens KRT2 DOID:0060877 brody myopathy brody_myopathy Brody Myopathy ATP2A1 DOID:0050692 glanzmann thrombasthenia glanzmann_thrombasthenia Glanzmann Thrombasthenia ITGB3 DOID:2219 usher syndrome, type iiia usher_syndrome_type_iiia Usher Syndrome, Type Iiia CLRN1 DOID:0110841 factor vii deficiency factor_vii_deficiency Factor Vii Deficiency F7 DOID:2215 bernard-soulier syndrome bernard_soulier_syndrome Bernard-Soulier Syndrome GP1BA DOID:2217 gm2-gangliosidosis, ab variant gm2_gangliosidosis_ab_variant Gm2-Gangliosidosis, Ab Variant GM2A DOID:4795 fibrodysplasia ossificans progressiva fibrodysplasia_ossificans_progressiva Fibrodysplasia Ossificans Progressiva ACVR1 DOID:13374 myopathy, myofibrillar, 3 myopathy_myofibrillar_3 Myopathy, Myofibrillar, 3 MYOT DOID:0080094 mitochondrial dna depletion syndrome 6 mitochondrial_dna_depletion_syndrome_6_hepatocerebral_type Mitochondrial Dna Depletion Syndrome 6 MPV17 DOID:0080125 arterial tortuosity syndrome arterial_tortuosity_syndrome Arterial Tortuosity Syndrome SLC2A10 DOID:0050645 denys-drash syndrome denys_drash_syndrome Denys-Drash Syndrome WT1 DOID:3764 sorsby fundus dystrophy sorsby_fundus_dystrophy Sorsby Fundus Dystrophy TIMP3 DOID:0090114 mental retardation, x-linked, syndromic 13 mental_retardation_x_linked_syndromic_13 Mental Retardation, X-Linked, Syndromic 13 MECP2 DOID:0060827 erythrocytosis, familial, 2 erythrocytosis_familial_2 Erythrocytosis, Familial, 2 VHL DOID:0060474 craniofacial-deafness-hand syndrome craniofacial_deafness_hand_syndrome Craniofacial-Deafness-Hand Syndrome PAX3 fish-eye disease fish_eye_disease Fish-Eye Disease LCAT meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 ORC1 DOID:0060306 polycythemia vera polycythemia_vera Polycythemia Vera JAK2 DOID:8997 mucopolysaccharidosis, type vii mucopolysaccharidosis_type_vii Mucopolysaccharidosis, Type Vii GUSB DOID:12803 orthostatic intolerance orthostatic_intolerance Orthostatic Intolerance SLC6A2 DOID:988 pontocerebellar hypoplasia, type 4 pontocerebellar_hypoplasia_type_4_2 Pontocerebellar Hypoplasia, Type 4 TSEN54 DOID:0060273 spastic paraplegia 7, autosomal recessive spastic_paraplegia_7_autosomal_recessive Spastic Paraplegia 7, Autosomal Recessive SPG7 DOID:0110816 brachydactyly, type a1 brachydactyly_type_a1_2 Brachydactyly, Type A1 IHH DOID:0110964 farber lipogranulomatosis farber_lipogranulomatosis Farber Lipogranulomatosis ASAH1 DOID:0050464 johanson-blizzard syndrome johanson_blizzard_syndrome Johanson-Blizzard Syndrome UBR1 DOID:14694 trimethylaminuria trimethylaminuria Trimethylaminuria FMO3 feingold syndrome 1 feingold_syndrome_1 Feingold Syndrome 1 MYCN DOID:0060464 bannayan-riley-ruvalcaba syndrome bannayan_riley_ruvalcaba_syndrome Bannayan-Riley-Ruvalcaba Syndrome PTEN DOID:0050657 occipital horn syndrome occipital_horn_syndrome Occipital Horn Syndrome ATP7A corneal dystrophy and perceptive deafness corneal_dystrophy_and_perceptive_deafness Corneal Dystrophy and Perceptive Deafness SLC4A11 focal dermal hypoplasia focal_dermal_hypoplasia Focal Dermal Hypoplasia PORCN DOID:2120 lathosterolosis lathosterolosis Lathosterolosis SC5D pulmonary alveolar microlithiasis pulmonary_alveolar_microlithiasis Pulmonary Alveolar Microlithiasis SLC34A2 DOID:12117 short-rib thoracic dysplasia 6 with or without polydactyly short_rib_thoracic_dysplasia_6_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly NEK1 DOID:0110092 desmosterolosis desmosterolosis Desmosterolosis DHCR24 frasier syndrome frasier_syndrome Frasier Syndrome WT1 DOID:0050438 alport syndrome, autosomal recessive alport_syndrome_autosomal_recessive Alport Syndrome, Autosomal Recessive COL4A4 DOID:0110033 steatocystoma multiplex steatocystoma_multiplex Steatocystoma Multiplex KRT17 hypochondroplasia hypochondroplasia Hypochondroplasia FGFR3 DOID:0080041 pancreatitis, hereditary pancreatitis_hereditary Pancreatitis, Hereditary PRSS1 papillorenal syndrome papillorenal_syndrome Papillorenal Syndrome PAX2 DOID:0090006 griscelli syndrome, type 2 griscelli_syndrome_type_2_2 Griscelli Syndrome, Type 2 RAB27A DOID:0060833 gerstmann-straussler disease gerstmann_straussler_disease Gerstmann-Straussler Disease PRNP DOID:4249 usher syndrome, type i usher_syndrome_type_i_2 Usher Syndrome, Type I MYO7A DOID:0110833 cystathioninuria cystathioninuria Cystathioninuria CTH DOID:0090142 temtamy preaxial brachydactyly syndrome temtamy_preaxial_brachydactyly_syndrome Temtamy Preaxial Brachydactyly Syndrome CHSY1 DOID:0050814 acromelic frontonasal dysostosis acromelic_frontonasal_dysostosis Acromelic Frontonasal Dysostosis ZSWIM6 DOID:0060342 bartter syndrome, type 3 bartter_syndrome_type_3_2 Bartter Syndrome, Type 3 CLCNKB DOID:0110144 gaucher disease, type i gaucher_disease_type_i Gaucher Disease, Type I GBA DOID:0110957 craniofrontonasal syndrome craniofrontonasal_syndrome Craniofrontonasal Syndrome EFNB1 DOID:14737 epidermolysis bullosa simplex, dowling-meara type epidermolysis_bullosa_simplex_dowling_meara_type Epidermolysis Bullosa Simplex, Dowling-Meara Type KRT14 DOID:0060735 myopathy, myofibrillar, 6 myopathy_myofibrillar_6 Myopathy, Myofibrillar, 6 BAG3 DOID:0080097 factor xii deficiency factor_xii_deficiency Factor Xii Deficiency F12 DOID:2231 spinocerebellar ataxia 13 spinocerebellar_ataxia_13 Spinocerebellar Ataxia 13 KCNC3 DOID:0050963 triosephosphate isomerase deficiency triosephosphate_isomerase_deficiency Triosephosphate Isomerase Deficiency TPI1 DOID:0050884 muscular dystrophy, limb-girdle, type 2a muscular_dystrophy_limb_girdle_type_2a Muscular Dystrophy, Limb-Girdle, Type 2a SGCB DOID:0110275 muscular dystrophy, duchenne type muscular_dystrophy_duchenne_type Muscular Dystrophy, Duchenne Type DMD DOID:11723 epidermolysis bullosa simplex, ogna type epidermolysis_bullosa_simplex_ogna_type Epidermolysis Bullosa Simplex, Ogna Type PLEC DOID:0060736 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_negative_due_to_adenosine_deaminase_deficiency Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency ADA cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 DOID:13945 multiple mitochondrial dysfunctions syndrome 1 multiple_mitochondrial_dysfunctions_syndrome_1 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 DOID:0080133 spinal muscular atrophy, distal, autosomal recessive, 1 spinal_muscular_atrophy_distal_autosomal_recessive_1 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 IGHMBP2 DOID:0111064 muscular dystrophy, becker type muscular_dystrophy_becker_type Muscular Dystrophy, Becker Type DMD DOID:9883 opitz-kaveggia syndrome opitz_kaveggia_syndrome Opitz-Kaveggia Syndrome MED12 DOID:14711 epilepsy, focal, with speech disorder and with or without mental retardation epilepsy_focal_with_speech_disorder_and_with_or_without_mental_retardation Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation GRIN2A native american myopathy native_american_myopathy Native American Myopathy STAC3 DOID:0060346 coproporphyria, hereditary coproporphyria_hereditary Coproporphyria, Hereditary CPOX DOID:13269 lethal congenital contracture syndrome 1 lethal_congenital_contracture_syndrome_1 Lethal Congenital Contracture Syndrome 1 GLE1 DOID:0060559 glycogen storage disease v glycogen_storage_disease_v Glycogen Storage Disease V PYGM DOID:2746 muscular dystrophy-dystroglycanopathy , type c, 5 muscular_dystrophy_dystroglycanopathy_limb_girdle_type_c_5 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 FKRP DOID:0110299 carnitine deficiency, systemic primary carnitine_deficiency_systemic_primary Carnitine Deficiency, Systemic Primary SLC22A5 DOID:14365 vici syndrome vici_syndrome Vici Syndrome EPG5 DOID:0060356 polycystic kidney disease 4 with or without polycystic liver disease polycystic_kidney_disease_4_with_or_without_polycystic_liver_disease Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease PKHD1 DOID:0110861 gaucher disease, type ii gaucher_disease_type_ii Gaucher Disease, Type Ii GBA DOID:0110958 spinocerebellar ataxia 35 spinocerebellar_ataxia_35 Spinocerebellar Ataxia 35 TGM6 DOID:0050982 acrokeratosis verruciformis acrokeratosis_verruciformis Acrokeratosis Verruciformis ATP2A2 DOID:0050606 renal glucosuria renal_glucosuria Renal Glucosuria SLC5A2 DOID:9432 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency long_chain_3_hydroxyacyl_coa_dehydrogenase_deficiency Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency HADHA progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 3_methylglutaconic_aciduria_with_cataracts_neurologic_involvement_and_neutropenia 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia CLPB DOID:0110003 familial adenomatous polyposis 1 familial_adenomatous_polyposis_1 Familial Adenomatous Polyposis 1 APC ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ataxia_early_onset_with_oculomotor_apraxia_and_hypoalbuminemia Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia APTX DOID:0050754 muscular dystrophy-dystroglycanopathy , type a, 4 muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 FKTN DOID:0050559 muscular dystrophy, limb-girdle, type 1a muscular_dystrophy_limb_girdle_type_1a Muscular Dystrophy, Limb-Girdle, Type 1a MYOT DOID:0110300 acyl-coa dehydrogenase, short-chain, deficiency of acyl_coa_dehydrogenase_short_chain_deficiency_of Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of ACADS DOID:0080154 myopathy, distal, 4 myopathy_distal_4 Myopathy, Distal, 4 FLNC arts syndrome arts_syndrome Arts Syndrome PRPS1 DOID:0050647 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant spinal_muscular_atrophy_lower_extremity_predominant_1_autosomal_dominant Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant DYNC1H1 macular dystrophy, vitelliform, 2 macular_dystrophy_vitelliform_2 Macular Dystrophy, Vitelliform, 2 BEST1 hydrolethalus syndrome 1 hydrolethalus_syndrome_1 Hydrolethalus Syndrome 1 HYLS1 DOID:0050779 monilethrix monilethrix Monilethrix KRT83 DOID:0050472 anemia, sideroblastic, 1 anemia_sideroblastic_1 Anemia, Sideroblastic, 1 ALAS2 DOID:11759 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia noonan_syndrome_like_disorder_with_or_without_juvenile_myelomonocytic_leukemia Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia CBL cerebroretinal microangiopathy with calcifications and cysts 1 cerebroretinal_microangiopathy_with_calcifications_and_cysts_1 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 CTC1 glut1 deficiency syndrome 1 glut1_deficiency_syndrome_1 Glut1 Deficiency Syndrome 1 SLC2A1 epilepsy, hearing loss, and mental retardation syndrome epilepsy_hearing_loss_and_mental_retardation_syndrome Epilepsy, Hearing Loss, and Mental Retardation Syndrome SPATA5 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi congenital_lipomatous_overgrowth_vascular_malformations_and_epidermal_nevi Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi PIK3CA glycogen storage disease iii glycogen_storage_disease_iii Glycogen Storage Disease Iii AGL DOID:2748 coenzyme q10 deficiency, primary, 7 coenzyme_q10_deficiency_primary_7 Coenzyme Q10 Deficiency, Primary, 7 COQ4 mitochondrial dna depletion syndrome 2 mitochondrial_dna_depletion_syndrome_2_myopathic_type Mitochondrial Dna Depletion Syndrome 2 TK2 DOID:0080120 nemaline myopathy 3 nemaline_myopathy_3 Nemaline Myopathy 3 ACTA1 DOID:0110927 mental retardation, x-linked 102 mental_retardation_x_linked_102 Mental Retardation, X-Linked 102 DDX3X combined oxidative phosphorylation deficiency 10 combined_oxidative_phosphorylation_deficiency_10 Combined Oxidative Phosphorylation Deficiency 10 MTO1 pneumothorax, primary spontaneous pneumothorax_primary_spontaneous Pneumothorax, Primary Spontaneous FLCN DOID:0080218 kelley-seegmiller syndrome kelley_seegmiller_syndrome Kelley-Seegmiller Syndrome HPRT1 minicore myopathy with external ophthalmoplegia minicore_myopathy_with_external_ophthalmoplegia Minicore Myopathy with External Ophthalmoplegia RYR1 mental retardation, x-linked, syndromic, turner type mental_retardation_x_linked_syndromic_turner_type Mental Retardation, X-Linked, Syndromic, Turner Type HUWE1 autoimmune disease, multisystem, infantile-onset, 1 autoimmune_disease_multisystem_infantile_onset_1 Autoimmune Disease, Multisystem, Infantile-Onset, 1 STAT3 loeys-dietz syndrome 2 loeys_dietz_syndrome_2 Loeys-Dietz Syndrome 2 TGFBR2 you-hoover-fong syndrome you_hoover_fong_syndrome You-Hoover-Fong Syndrome TELO2 megalencephaly-capillary malformation-polymicrogyria syndrome megalencephaly_capillary_malformation_polymicrogyria_syndrome Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome PIK3CA paramyotonia congenita of von eulenburg paramyotonia_congenita_of_von_eulenburg Paramyotonia Congenita of Von Eulenburg SCN4A baller-gerold syndrome baller_gerold_syndrome Baller-Gerold Syndrome RECQL4 DOID:0050654 spastic tetraplegia, thin corpus callosum, and progressive microcephaly spastic_tetraplegia_thin_corpus_callosum_and_progressive_microcephaly Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly SLC1A4 emery-dreifuss muscular dystrophy 3, autosomal recessive emery_dreifuss_muscular_dystrophy_3_autosomal_recessive Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive LMNA cowden syndrome 1 cowden_syndrome_1 Cowden Syndrome 1 PTEN congenital disorder of glycosylation, type iia congenital_disorder_of_glycosylation_type_iia Congenital Disorder of Glycosylation, Type Iia MGAT2 muscular dystrophy, limb-girdle, type 1b muscular_dystrophy_limb_girdle_type_1b Muscular Dystrophy, Limb-Girdle, Type 1b LMNA DOID:0110301 combined oxidative phosphorylation deficiency 15 combined_oxidative_phosphorylation_deficiency_15 Combined Oxidative Phosphorylation Deficiency 15 MTFMT deafness, x-linked 5 deafness_x_linked_5 Deafness, X-Linked 5 AIFM1 ehlers-danlos syndrome, vascular type ehlers_danlos_syndrome_vascular_type Ehlers-Danlos Syndrome, Vascular Type COL3A1 DOID:14756 microcephaly, short stature, and polymicrogyria with or without seizures microcephaly_short_stature_and_polymicrogyria_with_or_without_seizures Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures RTTN ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant ectodermal_dysplasia_10a_hypohidrotic_hair_nail_type_autosomal_dominant Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant EDAR acrocapitofemoral dysplasia acrocapitofemoral_dysplasia Acrocapitofemoral Dysplasia IHH DOID:0050604 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 MC4R DOID:9970 homocystinuria-megaloblastic anemia, cblg complementation type homocystinuria_megaloblastic_anemia_cblg_complementation_type Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type MTR loeys-dietz syndrome 3 loeys_dietz_syndrome_3 Loeys-Dietz Syndrome 3 SMAD3 infantile liver failure syndrome 2 infantile_liver_failure_syndrome_2 Infantile Liver Failure Syndrome 2 NBAS neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset neurologic_endocrine_and_pancreatic_disease_multisystem_infantile_onset Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset PTRH2 scapuloperoneal myopathy, myh7-related scapuloperoneal_myopathy_myh7_related Scapuloperoneal Myopathy, Myh7-Related MYH7 seizures, benign familial infantile, 3 seizures_benign_familial_infantile_3 Seizures, Benign Familial Infantile, 3 SCN2A leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation leukoencephalopathy_with_brainstem_and_spinal_cord_involvement_and_lactate_elevation Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 epileptic encephalopathy, early infantile, 7 epileptic_encephalopathy_early_infantile_7 Epileptic Encephalopathy, Early Infantile, 7 KCNQ2 gaucher disease, type iii gaucher_disease_type_iii Gaucher Disease, Type Iii GBA DOID:0110959 epileptic encephalopathy, early infantile, 50 epileptic_encephalopathy_early_infantile_50 Epileptic Encephalopathy, Early Infantile, 50 CAD wolfram-like syndrome, autosomal dominant wolfram_like_syndrome_autosomal_dominant Wolfram-Like Syndrome, Autosomal Dominant WFS1 neu-laxova syndrome 1 neu_laxova_syndrome_1 Neu-Laxova Syndrome 1 PHGDH DOID:0080076 short-rib thoracic dysplasia 7 with or without polydactyly short_rib_thoracic_dysplasia_7_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly WDR35 DOID:0110090 growth retardation, developmental delay, and facial dysmorphism growth_retardation_developmental_delay_and_facial_dysmorphism Growth Retardation, Developmental Delay, and Facial Dysmorphism FTO monilethrix monilethrix Monilethrix KRT81 DOID:0050472 lissencephaly 3 lissencephaly_3 Lissencephaly 3 TUBA1A marfan lipodystrophy syndrome marfan_lipodystrophy_syndrome Marfan Lipodystrophy Syndrome FBN1 posterior column ataxia with retinitis pigmentosa posterior_column_ataxia_with_retinitis_pigmentosa Posterior Column Ataxia with Retinitis Pigmentosa FLVCR1 epileptic encephalopathy, early infantile, 16 epileptic_encephalopathy_early_infantile_16 Epileptic Encephalopathy, Early Infantile, 16 TBC1D24 paroxysmal extreme pain disorder paroxysmal_extreme_pain_disorder Paroxysmal Extreme Pain Disorder SCN9A leukoencephalopathy with ataxia leukoencephalopathy_with_ataxia Leukoencephalopathy with Ataxia CLCN2 convulsions, familial infantile, with paroxysmal choreoathetosis convulsions_familial_infantile_with_paroxysmal_choreoathetosis Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis PRRT2 chondrodysplasia punctata 2, x-linked dominant chondrodysplasia_punctata_2_x_linked_dominant_2 Chondrodysplasia Punctata 2, X-Linked Dominant EBP cardiomyopathy, dilated, with hypergonadotropic hypogonadism cardiomyopathy_dilated_with_hypergonadotropic_hypogonadism Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism LMNA proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome proliferative_vasculopathy_and_hydranencephaly_hydrocephaly_syndrome Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome FLVCR2 neutral lipid storage disease with myopathy neutral_lipid_storage_disease_with_myopathy Neutral Lipid Storage Disease with Myopathy PNPLA2 keratoderma, palmoplantar, with deafness keratoderma_palmoplantar_with_deafness Keratoderma, Palmoplantar, with Deafness GJB2 donnai-barrow syndrome donnai_barrow_syndrome Donnai-Barrow Syndrome LRP2 DOID:0090144 multiple mitochondrial dysfunctions syndrome 4 multiple_mitochondrial_dysfunctions_syndrome_4 Multiple Mitochondrial Dysfunctions Syndrome 4 ISCA2 DOID:0080136 liver failure, infantile, transient liver_failure_infantile_transient Liver Failure, Infantile, Transient TRMU periodic fever, familial, autosomal dominant periodic_fever_familial_autosomal_dominant Periodic Fever, Familial, Autosomal Dominant TNFRSF1A DOID:0090018 focal cortical dysplasia, type ii focal_cortical_dysplasia_type_ii Focal Cortical Dysplasia, Type Ii MTOR capillary malformation-arteriovenous malformation capillary_malformation_arteriovenous_malformation Capillary Malformation-Arteriovenous Malformation RASA1 atransferrinemia atransferrinemia Atransferrinemia TF DOID:0050649 glucose/galactose malabsorption glucose_galactose_malabsorption Glucose/galactose Malabsorption SLC5A1 encephalopathy, familial, with neuroserpin inclusion bodies encephalopathy_familial_with_neuroserpin_inclusion_bodies Encephalopathy, Familial, with Neuroserpin Inclusion Bodies SERPINI1 DOID:0050831 succinyl-coa:3-oxoacid-coa transferase deficiency succinyl_coa3_oxoacid_coa_transferase_deficiency_3 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency OXCT1 thiamine-responsive megaloblastic anemia syndrome thiamine_responsive_megaloblastic_anemia_syndrome Thiamine-Responsive Megaloblastic Anemia Syndrome SLC19A2 DOID:0090117 cystinosis, nephropathic cystinosis_nephropathic Cystinosis, Nephropathic CTNS n-acetylglutamate synthase deficiency n_acetylglutamate_synthase_deficiency N-Acetylglutamate Synthase Deficiency NAGS acid-labile subunit deficiency acid_labile_subunit_deficiency Acid-Labile Subunit Deficiency IGFALS diabetes insipidus, nephrogenic, autosomal diabetes_insipidus_nephrogenic_autosomal Diabetes Insipidus, Nephrogenic, Autosomal AQP2 DOID:12387 immunodeficiency 21 immunodeficiency_21 Immunodeficiency 21 GATA2 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 MET DOID:4465 hyaline fibromatosis syndrome hyaline_fibromatosis_syndrome Hyaline Fibromatosis Syndrome ANTXR2 friedreich ataxia 1 friedreich_ataxia_1 Friedreich Ataxia 1 FXN DOID:12705 microcornea, myopic chorioretinal atrophy, and telecanthus microcornea_myopic_chorioretinal_atrophy_and_telecanthus Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ADAMTS18 pyruvate carboxylase deficiency pyruvate_carboxylase_deficiency Pyruvate Carboxylase Deficiency PC DOID:3651 gray platelet syndrome gray_platelet_syndrome Gray Platelet Syndrome NBEAL2 DOID:0111044 multisystemic smooth muscle dysfunction syndrome multisystemic_smooth_muscle_dysfunction_syndrome Multisystemic Smooth Muscle Dysfunction Syndrome ACTA2 macular dystrophy, corneal macular_dystrophy_corneal Macular Dystrophy, Corneal CHST6 DOID:2565 erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia_variabilis_et_progressiva_1 Erythrokeratodermia Variabilis Et Progressiva 1 GJB3 DOID:0050467 phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate_synthetase_superactivity Phosphoribosylpyrophosphate Synthetase Superactivity PRPS1 ceroid lipofuscinosis, neuronal, 6 ceroid_lipofuscinosis_neuronal_6_2 Ceroid Lipofuscinosis, Neuronal, 6 CLN6 DOID:0110729 epidermolysis bullosa simplex with mottled pigmentation epidermolysis_bullosa_simplex_with_mottled_pigmentation Epidermolysis Bullosa Simplex with Mottled Pigmentation KRT5 methylmalonate semialdehyde dehydrogenase deficiency methylmalonate_semialdehyde_dehydrogenase_deficiency Methylmalonate Semialdehyde Dehydrogenase Deficiency ALDH6A1 spondylometaphyseal dysplasia with cone-rod dystrophy spondylometaphyseal_dysplasia_with_cone_rod_dystrophy Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy PCYT1A hypocalciuric hypercalcemia, familial, type i hypocalciuric_hypercalcemia_familial_type_i Hypocalciuric Hypercalcemia, Familial, Type I CASR DOID:0060700 haim-munk syndrome haim_munk_syndrome Haim-Munk Syndrome CTSC charcot-marie-tooth disease, type 4c charcot_marie_tooth_disease_type_4c Charcot-Marie-Tooth Disease, Type 4c SH3TC2 DOID:0110183 dent disease 1 dent_disease_1 Dent Disease 1 CLCN5 DOID:0050699 glycine n-methyltransferase deficiency glycine_n_methyltransferase_deficiency Glycine N-Methyltransferase Deficiency GNMT DOID:0111037 episodic ataxia, type 1 episodic_ataxia_type_1_2 Episodic Ataxia, Type 1 KCNA1 DOID:0050989 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 3_methylglutaconic_aciduria_with_deafness_encephalopathy_and_leigh_like_syndrome 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome SERAC1 DOID:0110001 langer mesomelic dysplasia langer_mesomelic_dysplasia Langer Mesomelic Dysplasia SHOX rippling muscle disease 2 rippling_muscle_disease_2 Rippling Muscle Disease 2 CAV3 DOID:0060255 dystonia 6, torsion dystonia_6_torsion Dystonia 6, Torsion THAP1 DOID:0090039 pseudo-von willebrand disease pseudo_von_willebrand_disease Pseudo-Von Willebrand Disease GP1BA DOID:0111056 charcot-marie-tooth disease, type 4b1 charcot_marie_tooth_disease_type_4b1_2 Charcot-Marie-Tooth Disease, Type 4b1 MTMR2 DOID:0110191 prolidase deficiency prolidase_deficiency Prolidase Deficiency PEPD ichthyosis, congenital, autosomal recessive 4b ichthyosis_congenital_autosomal_recessive_4b Ichthyosis, Congenital, Autosomal Recessive 4b ABCA12 DOID:0060713 charcot-marie-tooth disease, axonal, type 2a1 charcot_marie_tooth_disease_axonal_type_2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 KIF1B DOID:0110154 congenital disorder of glycosylation, type iw congenital_disorder_of_glycosylation_type_iw Congenital Disorder of Glycosylation, Type Iw STT3A glycogen storage disease xiii glycogen_storage_disease_xiii Glycogen Storage Disease Xiii ENO3 weyers acrofacial dysostosis weyers_acrofacial_dysostosis Weyers Acrofacial Dysostosis EVC osteoglophonic dysplasia osteoglophonic_dysplasia Osteoglophonic Dysplasia FGFR1 ceroid lipofuscinosis, neuronal, 7 ceroid_lipofuscinosis_neuronal_7_2 Ceroid Lipofuscinosis, Neuronal, 7 MFSD8 DOID:0110722 timothy syndrome timothy_syndrome Timothy Syndrome CACNA1C DOID:0060173 pityriasis rubra pilaris pityriasis_rubra_pilaris Pityriasis Rubra Pilaris CARD14 DOID:9212 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance seizures_sensorineural_deafness_ataxia_mental_retardation_and_electrolyte_imbalance Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance KCNJ10 DOID:0060484 renal cysts and diabetes syndrome renal_cysts_and_diabetes_syndrome Renal Cysts and Diabetes Syndrome HNF1B DOID:0111101 hemochromatosis, type 4 hemochromatosis_type_4_2 Hemochromatosis, Type 4 SLC40A1 DOID:0111028 lymphoproliferative syndrome, x-linked, 1 lymphoproliferative_syndrome_x_linked_1 Lymphoproliferative Syndrome, X-Linked, 1 SH2D1A DOID:0060705 purine nucleoside phosphorylase deficiency purine_nucleoside_phosphorylase_deficiency Purine Nucleoside Phosphorylase Deficiency PNP DOID:5813 catel-manzke syndrome catel_manzke_syndrome_2 Catel-Manzke Syndrome TGDS charcot-marie-tooth disease, type 4h charcot_marie_tooth_disease_type_4h Charcot-Marie-Tooth Disease, Type 4h FGD4 DOID:0110192 pachyonychia congenita 1 pachyonychia_congenita_1 Pachyonychia Congenita 1 KRT16 DOID:0050449 methylmalonic aciduria, cblb type methylmalonic_aciduria_cblb_type Methylmalonic Aciduria, Cblb Type MMAB DOID:14749 spastic paraplegia 20, autosomal recessive spastic_paraplegia_20_autosomal_recessive Spastic Paraplegia 20, Autosomal Recessive SPART DOID:0050886 vitreoretinochoroidopathy vitreoretinochoroidopathy Vitreoretinochoroidopathy BEST1 adenine phosphoribosyltransferase deficiency adenine_phosphoribosyltransferase_deficiency Adenine Phosphoribosyltransferase Deficiency APRT DOID:0060350 porphyria, acute intermittent porphyria_acute_intermittent Porphyria, Acute Intermittent HMBS DOID:3890 martsolf syndrome martsolf_syndrome Martsolf Syndrome RAB3GAP2 charcot-marie-tooth disease, axonal, type 2t charcot_marie_tooth_disease_axonal_type_2t Charcot-Marie-Tooth Disease, Axonal, Type 2t MME DOID:0110160 corneal dystrophy, avellino type corneal_dystrophy_avellino_type_2 Corneal Dystrophy, Avellino Type TGFBI DOID:0060444 brachydactyly, type a2 brachydactyly_type_a2_2 Brachydactyly, Type A2 BMPR1B DOID:0110965 irak4 deficiency irak4_deficiency Irak4 Deficiency IRAK4 adenylosuccinase deficiency adenylosuccinase_deficiency Adenylosuccinase Deficiency ADSL brachydactyly, type c brachydactyly_type_c_2 Brachydactyly, Type C GDF5 DOID:0110970 benign chronic pemphigus benign_chronic_pemphigus Benign Chronic Pemphigus ATP2C1 DOID:0050429 myeloperoxidase deficiency myeloperoxidase_deficiency Myeloperoxidase Deficiency MPO leukoencephalopathy with vanishing white matter leukoencephalopathy_with_vanishing_white_matter Leukoencephalopathy with Vanishing White Matter EIF2B1 DOID:0060868 kanzaki disease kanzaki_disease Kanzaki Disease NAGA brachydactyly, type a2 brachydactyly_type_a2_2 Brachydactyly, Type A2 GDF5 DOID:0110965 meconium ileus meconium_ileus Meconium Ileus GUCY2C aminoacylase 1 deficiency aminoacylase_1_deficiency Aminoacylase 1 Deficiency ACY1 bowen-conradi syndrome bowen_conradi_syndrome Bowen-Conradi Syndrome EMG1 DOID:0050684 keppen-lubinsky syndrome keppen_lubinsky_syndrome Keppen-Lubinsky Syndrome KCNJ6 diaphanospondylodysostosis diaphanospondylodysostosis Diaphanospondylodysostosis BMPER rhizomelic chondrodysplasia punctata, type 2 rhizomelic_chondrodysplasia_punctata_type_2_2 Rhizomelic Chondrodysplasia Punctata, Type 2 GNPAT DOID:0110852 currarino syndrome currarino_syndrome Currarino Syndrome MNX1 cerebellar ataxia, cayman type cerebellar_ataxia_cayman_type Cerebellar Ataxia, Cayman Type ATCAY DOID:0060694 ichthyosis prematurity syndrome ichthyosis_prematurity_syndrome Ichthyosis Prematurity Syndrome SLC27A4 complement factor d deficiency complement_factor_d_deficiency Complement Factor D Deficiency CFD spastic ataxia 2, autosomal recessive spastic_ataxia_2_autosomal_recessive Spastic Ataxia 2, Autosomal Recessive KIF1C leukoencephalopathy with vanishing white matter leukoencephalopathy_with_vanishing_white_matter Leukoencephalopathy with Vanishing White Matter EIF2B4 DOID:0060868 encephalopathy, ethylmalonic encephalopathy_ethylmalonic Encephalopathy, Ethylmalonic ETHE1 DOID:0060640 pituitary hormone deficiency, combined, 2 pituitary_hormone_deficiency_combined_2_2 Pituitary Hormone Deficiency, Combined, 2 PROP1 DOID:9410 thrombocytopenia 1 thrombocytopenia_1 Thrombocytopenia 1 WAS d-glyceric aciduria d_glyceric_aciduria D-Glyceric Aciduria GLYCTK raine syndrome raine_syndrome Raine Syndrome FAM20C warsaw breakage syndrome warsaw_breakage_syndrome Warsaw Breakage Syndrome DDX11 DOID:0060535 cinca syndrome cinca_syndrome Cinca Syndrome NLRP3 DOID:0090029 epidermolysis bullosa simplex, dowling-meara type epidermolysis_bullosa_simplex_dowling_meara_type Epidermolysis Bullosa Simplex, Dowling-Meara Type KRT5 DOID:0060735 renpenning syndrome 1 renpenning_syndrome_1 Renpenning Syndrome 1 PQBP1 DOID:0060179 neurodegeneration with brain iron accumulation 3 neurodegeneration_with_brain_iron_accumulation_3 Neurodegeneration with Brain Iron Accumulation 3 FTL DOID:0110737 multicentric osteolysis, nodulosis, and arthropathy multicentric_osteolysis_nodulosis_and_arthropathy Multicentric Osteolysis, Nodulosis, and Arthropathy MMP2 spinocerebellar ataxia 5 spinocerebellar_ataxia_5 Spinocerebellar Ataxia 5 SPTBN2 DOID:0050882 calcification of joints and arteries calcification_of_joints_and_arteries Calcification of Joints and Arteries NT5E robinow syndrome, autosomal recessive robinow_syndrome_autosomal_recessive Robinow Syndrome, Autosomal Recessive ROR2 DOID:0060764 tyrosinemia, type ii tyrosinemia_type_ii_2 Tyrosinemia, Type Ii TAT DOID:0050725 corneal dystrophy, meesmann corneal_dystrophy_meesmann Corneal Dystrophy, Meesmann KRT12 DOID:0060451 prekallikrein deficiency prekallikrein_deficiency Prekallikrein Deficiency KLKB1 myasthenic syndrome, congenital, 5 myasthenic_syndrome_congenital_5 Myasthenic Syndrome, Congenital, 5 COLQ DOID:0110667 primrose syndrome primrose_syndrome Primrose Syndrome ZBTB20 corticosteroid-binding globulin deficiency corticosteroid_binding_globulin_deficiency Corticosteroid-Binding Globulin Deficiency SERPINA6 DOID:0090030 achondrogenesis, type ii achondrogenesis_type_ii_2 Achondrogenesis, Type Ii COL2A1 DOID:0080056 dicarboxylic aminoaciduria dicarboxylic_aminoaciduria Dicarboxylic Aminoaciduria SLC1A1 DOID:0060650 ataxia-pancytopenia syndrome ataxia_pancytopenia_syndrome Ataxia-Pancytopenia Syndrome SAMD9L jalili syndrome jalili_syndrome Jalili Syndrome CNNM4 muscular dystrophy, limb-girdle, type 2h muscular_dystrophy_limb_girdle_type_2h Muscular Dystrophy, Limb-Girdle, Type 2h TRIM32 acrocallosal syndrome acrocallosal_syndrome Acrocallosal Syndrome KIF7 DOID:9250 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia autoimmune_polyendocrine_syndrome_type_i_with_or_without_reversible_metaphyseal_dysplasia Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia AIRE tarsal-carpal coalition syndrome tarsal_carpal_coalition_syndrome Tarsal-Carpal Coalition Syndrome NOG DOID:0050789 birk-barel mental retardation dysmorphism syndrome birk_barel_mental_retardation_dysmorphism_syndrome Birk-Barel Mental Retardation Dysmorphism Syndrome KCNK9 DOID:0050675 bare lymphocyte syndrome, type ii bare_lymphocyte_syndrome_type_ii Bare Lymphocyte Syndrome, Type Ii RFXANK DOID:5812 muscular dystrophy, limb-girdle, type 2b muscular_dystrophy_limb_girdle_type_2b Muscular Dystrophy, Limb-Girdle, Type 2b DYSF nephrotic syndrome, type 1 nephrotic_syndrome_type_1 Nephrotic Syndrome, Type 1 NPHS1 mismatch repair cancer syndrome mismatch_repair_cancer_syndrome Mismatch Repair Cancer Syndrome PMS2 neutrophil immunodeficiency syndrome neutrophil_immunodeficiency_syndrome Neutrophil Immunodeficiency Syndrome RAC2 temtamy syndrome temtamy_syndrome Temtamy Syndrome C12orf57 branchiooculofacial syndrome branchiooculofacial_syndrome Branchiooculofacial Syndrome TFAP2A DOID:0050691 chronic atrial and intestinal dysrhythmia chronic_atrial_and_intestinal_dysrhythmia Chronic Atrial and Intestinal Dysrhythmia SGO1 DOID:0060339 clouston syndrome clouston_syndrome Clouston Syndrome GJB6 DOID:14693 spastic paraplegia 42, autosomal dominant spastic_paraplegia_42_autosomal_dominant Spastic Paraplegia 42, Autosomal Dominant SLC33A1 DOID:0110794 amegakaryocytic thrombocytopenia, congenital amegakaryocytic_thrombocytopenia_congenital Amegakaryocytic Thrombocytopenia, Congenital MPL DOID:0090118 perlman syndrome perlman_syndrome Perlman Syndrome DIS3L2 DOID:0060476 yunis-varon syndrome yunis_varon_syndrome_2 Yunis-Varon Syndrome FIG4 DOID:0060589 hyperoxaluria, primary, type i hyperoxaluria_primary_type_i Hyperoxaluria, Primary, Type I AGXT myd88 deficiency myd88_deficiency Myd88 Deficiency MYD88 spastic paraplegia 35, autosomal recessive spastic_paraplegia_35_autosomal_recessive Spastic Paraplegia 35, Autosomal Recessive FA2H DOID:0110786 infantile cerebellar-retinal degeneration infantile_cerebellar_retinal_degeneration Infantile Cerebellar-Retinal Degeneration ACO2 DOID:0050883 spastic paraplegia 46, autosomal recessive spastic_paraplegia_46_autosomal_recessive Spastic Paraplegia 46, Autosomal Recessive GBA2 DOID:0110798 vas deferens, congenital bilateral aplasia of vas_deferens_congenital_bilateral_aplasia_of Vas Deferens, Congenital Bilateral Aplasia of CFTR precocious puberty, male-limited precocious_puberty_male_limited Precocious Puberty, Male-Limited LHCGR fundus albipunctatus fundus_albipunctatus Fundus Albipunctatus RLBP1 DOID:11105 ceroid lipofuscinosis, neuronal, 10 ceroid_lipofuscinosis_neuronal_10_2 Ceroid Lipofuscinosis, Neuronal, 10 CTSD DOID:0110725 albinism, oculocutaneous, type ia albinism_oculocutaneous_type_ia Albinism, Oculocutaneous, Type Ia TYR DOID:0070094 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii COL1A1 DOID:0110339 schwartz-jampel syndrome, type 1 schwartz_jampel_syndrome_type_1_2 Schwartz-Jampel Syndrome, Type 1 HSPG2 DOID:0090005 donohue syndrome donohue_syndrome Donohue Syndrome INSR DOID:0050470 chondrodysplasia, grebe type chondrodysplasia_grebe_type Chondrodysplasia, Grebe Type GDF5 DOID:0080052 charcot-marie-tooth disease and deafness charcot_marie_tooth_disease_and_deafness Charcot-Marie-Tooth Disease and Deafness PMP22 DOID:0110153 stormorken syndrome stormorken_syndrome Stormorken Syndrome STIM1 DOID:0060354 neuraminidase deficiency neuraminidase_deficiency Neuraminidase Deficiency NEU1 spinocerebellar ataxia 29 spinocerebellar_ataxia_29 Spinocerebellar Ataxia 29 ITPR1 DOID:0050978 cenani-lenz syndactyly syndrome cenani_lenz_syndactyly_syndrome Cenani-Lenz Syndactyly Syndrome LRP4 DOID:0090015 mitochondrial dna depletion syndrome 7 mitochondrial_dna_depletion_syndrome_7_hepatocerebral_type Mitochondrial Dna Depletion Syndrome 7 TWNK DOID:0080126 spinocerebellar ataxia 23 spinocerebellar_ataxia_23 Spinocerebellar Ataxia 23 PDYN DOID:0050973 reticulate acropigmentation of kitamura reticulate_acropigmentation_of_kitamura Reticulate Acropigmentation of Kitamura ADAM10 DOID:0060258 iminoglycinuria iminoglycinuria Iminoglycinuria SLC36A2 spinocerebellar ataxia 27 spinocerebellar_ataxia_27 Spinocerebellar Ataxia 27 FGF14 DOID:0050976 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced carnitine_palmitoyltransferase_ii_deficiency_myopathic_stress_induced Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced CPT2 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot GATA4 DOID:6419 phosphoserine phosphatase deficiency phosphoserine_phosphatase_deficiency Phosphoserine Phosphatase Deficiency PSPH DOID:0050724 mitochondrial complex ii deficiency mitochondrial_complex_ii_deficiency Mitochondrial Complex Ii Deficiency SDHAF1 DOID:0060537 multiple endocrine neoplasia, type iib multiple_endocrine_neoplasia_type_iib Multiple Endocrine Neoplasia, Type Iib RET DOID:10016 acyl-coa dehydrogenase, very long-chain, deficiency of acyl_coa_dehydrogenase_very_long_chain_deficiency_of Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of ACADVL DOID:0080155 albinism, oculocutaneous, type ib albinism_oculocutaneous_type_ib Albinism, Oculocutaneous, Type Ib TYR DOID:0070095 mental retardation with language impairment and with or without autistic features mental_retardation_with_language_impairment_and_with_or_without_autistic_features Mental Retardation with Language Impairment and with or Without Autistic Features FOXP1 spinocerebellar ataxia, autosomal recessive 7 spinocerebellar_ataxia_autosomal_recessive_7 Spinocerebellar Ataxia, Autosomal Recessive 7 TPP1 DOID:0080059 muscular dystrophy, limb-girdle, type 2d muscular_dystrophy_limb_girdle_type_2d Muscular Dystrophy, Limb-Girdle, Type 2d SGCA DOID:0110278 muscular dystrophy, limb-girdle, type 2c muscular_dystrophy_limb_girdle_type_2c Muscular Dystrophy, Limb-Girdle, Type 2c SGCG DOID:0110277 mandibulofacial dysostosis with alopecia mandibulofacial_dysostosis_with_alopecia Mandibulofacial Dysostosis with Alopecia EDNRA DOID:0060365 ulna and fibula, absence of, with severe limb deficiency ulna_and_fibula_absence_of_with_severe_limb_deficiency_2 Ulna and Fibula, Absence of, with Severe Limb Deficiency WNT7A legg-calve-perthes disease legg_calve_perthes_disease Legg-Calve-Perthes Disease COL2A1 DOID:14415 multiple pterygium syndrome, escobar variant multiple_pterygium_syndrome_escobar_variant Multiple Pterygium Syndrome, Escobar Variant CHRNG DOID:0080110 surfactant metabolism dysfunction, pulmonary, 3 surfactant_metabolism_dysfunction_pulmonary_3 Surfactant Metabolism Dysfunction, Pulmonary, 3 ABCA3 spinocerebellar ataxia 34 spinocerebellar_ataxia_34 Spinocerebellar Ataxia 34 ELOVL4 DOID:0050981 mitochondrial complex ii deficiency mitochondrial_complex_ii_deficiency Mitochondrial Complex Ii Deficiency SDHD DOID:0060537 neuropathy, hereditary sensory, type ie neuropathy_hereditary_sensory_type_ie Neuropathy, Hereditary Sensory, Type Ie DNMT1 DOID:0070158 bjornstad syndrome bjornstad_syndrome Bjornstad Syndrome BCS1L DOID:0050677 carney complex variant carney_complex_variant Carney Complex Variant MYH8 DOID:0050471 spondyloepimetaphyseal dysplasia, missouri type spondyloepimetaphyseal_dysplasia_missouri_type Spondyloepimetaphyseal Dysplasia, Missouri Type MMP13 DOID:0080030 neurofibromatosis, type i neurofibromatosis_type_i Neurofibromatosis, Type I NF1 pyruvate kinase deficiency of red cells pyruvate_kinase_deficiency_of_red_cells Pyruvate Kinase Deficiency of Red Cells PKLR DOID:0111077 hyper-ige recurrent infection syndrome, autosomal dominant hyper_ige_recurrent_infection_syndrome_autosomal_dominant Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant STAT3 DOID:3261 congenital disorder of glycosylation, type ib congenital_disorder_of_glycosylation_type_ib Congenital Disorder of Glycosylation, Type Ib MPI muscular dystrophy-dystroglycanopathy , type c, 14 muscular_dystrophy_dystroglycanopathy_type_c_14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 GMPPB DOID:0110294 muscular dystrophy-dystroglycanopathy , type c, 2 muscular_dystrophy_dystroglycanopathy_type_c_2 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 POMT2 DOID:0110298 muscular dystrophy-dystroglycanopathy , type c, 1 muscular_dystrophy_dystroglycanopathy_type_c_1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 POMT1 DOID:0110297 epilepsy, pyridoxine-dependent epilepsy_pyridoxine_dependent Epilepsy, Pyridoxine-Dependent ALDH7A1 vitreoretinopathy, neovascular inflammatory vitreoretinopathy_neovascular_inflammatory Vitreoretinopathy, Neovascular Inflammatory CAPN5 DOID:9719 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay sideroblastic_anemia_with_b_cell_immunodeficiency_periodic_fevers_and_developmental_delay Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay TRNT1 DOID:0080209 cholestasis, progressive familial intrahepatic, 3 cholestasis_progressive_familial_intrahepatic_3_2 Cholestasis, Progressive Familial Intrahepatic, 3 ABCB4 gastric cancer, hereditary diffuse gastric_cancer_hereditary_diffuse Gastric Cancer, Hereditary Diffuse CDH1 muscular dystrophy-dystroglycanopathy , type c, 4 muscular_dystrophy_dystroglycanopathy_type_c_4 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 FKTN DOID:0110296 hypomyelination with brainstem and spinal cord involvement and leg spasticity hypomyelination_with_brainstem_and_spinal_cord_involvement_and_leg_spasticity Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity DARS knuckle pads, leukonychia, and sensorineural deafness knuckle_pads_leukonychia_and_sensorineural_deafness Knuckle Pads, Leukonychia, and Sensorineural Deafness GJB2 DOID:0050658 muscular dystrophy, limb-girdle, type 2q muscular_dystrophy_limb_girdle_type_2q Muscular Dystrophy, Limb-Girdle, Type 2q PLEC DOID:0110285 3-hydroxy-3-methylglutaryl-coa lyase deficiency 3_hydroxy_3_methylglutaryl_coa_lyase_deficiency 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency HMGCL thrombotic thrombocytopenic purpura, congenital thrombotic_thrombocytopenic_purpura_congenital Thrombotic Thrombocytopenic Purpura, Congenital ADAMTS13 androgen insensitivity, partial androgen_insensitivity_partial Androgen Insensitivity, Partial AR cystinosis, late-onset juvenile or adolescent nephropathic type cystinosis_late_onset_juvenile_or_adolescent_nephropathic_type Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type CTNS charcot-marie-tooth disease, axonal, type 2b1 charcot_marie_tooth_disease_axonal_type_2b1 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 LMNA DOID:0110156 nicolaides-baraitser syndrome nicolaides_baraitser_syndrome_2 Nicolaides-Baraitser Syndrome SMARCA2 immunodeficiency with hyper-igm, type 1 immunodeficiency_with_hyper_igm_type_1_2 Immunodeficiency with Hyper-Igm, Type 1 CD40LG cholestasis, benign recurrent intrahepatic, 1 cholestasis_benign_recurrent_intrahepatic_1 Cholestasis, Benign Recurrent Intrahepatic, 1 ATP8B1 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs facial_dysmorphism_lens_dislocation_anterior_segment_abnormalities_and_spontaneous_filtering_blebs Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs ASPH scapuloperoneal spinal muscular atrophy scapuloperoneal_spinal_muscular_atrophy Scapuloperoneal Spinal Muscular Atrophy TRPV4 mitochondrial trifunctional protein deficiency mitochondrial_trifunctional_protein_deficiency Mitochondrial Trifunctional Protein Deficiency HADHB cholestasis, progressive familial intrahepatic, 2 cholestasis_progressive_familial_intrahepatic_2_2 Cholestasis, Progressive Familial Intrahepatic, 2 ABCB11 muscular dystrophy-dystroglycanopathy , type c, 7 muscular_dystrophy_dystroglycanopathy_type_c_7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 ISPD DOID:0110295 congenital hemidysplasia with ichthyosiform erythroderma and limb defects congenital_hemidysplasia_with_ichthyosiform_erythroderma_and_limb_defects Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects NSDHL tatton-brown-rahman syndrome tatton_brown_rahman_syndrome Tatton-Brown-Rahman Syndrome DNMT3A myoclonic epilepsy of lafora myoclonic_epilepsy_of_lafora Myoclonic Epilepsy of Lafora EPM2A DOID:3534 short stature, optic nerve atrophy, and pelger-huet anomaly short_stature_optic_nerve_atrophy_and_pelger_huet_anomaly Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly NBAS lissencephaly, x-linked, 1 lissencephaly_x_linked_1 Lissencephaly, X-Linked, 1 DCX progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 RNASEH1 combined oxidative phosphorylation deficiency 14 combined_oxidative_phosphorylation_deficiency_14 Combined Oxidative Phosphorylation Deficiency 14 FARS2 metaphyseal chondrodysplasia, schmid type metaphyseal_chondrodysplasia_schmid_type Metaphyseal Chondrodysplasia, Schmid Type COL10A1 DOID:0080021 osteopetrosis, autosomal dominant 2 osteopetrosis_autosomal_dominant_2 Osteopetrosis, Autosomal Dominant 2 CLCN7 DOID:0110938 hyperparathyroidism 2 with jaw tumors hyperparathyroidism_2_with_jaw_tumors Hyperparathyroidism 2 with Jaw Tumors CDC73 renal tubular acidosis, distal, autosomal dominant renal_tubular_acidosis_distal_autosomal_dominant Renal Tubular Acidosis, Distal, Autosomal Dominant SLC4A1 platyspondylic lethal skeletal dysplasia, torrance type platyspondylic_lethal_skeletal_dysplasia_torrance_type_2 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type COL2A1 bifid nose with or without anorectal and renal anomalies bifid_nose_with_or_without_anorectal_and_renal_anomalies Bifid Nose with or Without Anorectal and Renal Anomalies FREM1 hyperphenylalaninemia, bh4-deficient, b hyperphenylalaninemia_bh4_deficient_b Hyperphenylalaninemia, Bh4-Deficient, B GCH1 hypouricemia, renal, 1 hypouricemia_renal_1 Hypouricemia, Renal, 1 SLC22A12 hemochromatosis, type 3 hemochromatosis_type_3 Hemochromatosis, Type 3 TFR2 DOID:0111030 central hypoventilation syndrome, congenital central_hypoventilation_syndrome_congenital Central Hypoventilation Syndrome, Congenital PHOX2B DOID:0060731 spinocerebellar ataxia, autosomal recessive 16 spinocerebellar_ataxia_autosomal_recessive_16 Spinocerebellar Ataxia, Autosomal Recessive 16 STUB1 DOID:0080029 leigh syndrome, french canadian type leigh_syndrome_french_canadian_type Leigh Syndrome, French Canadian Type LRPPRC 2-aminoadipic 2-oxoadipic aciduria 2_aminoadipic_2_oxoadipic_aciduria 2-Aminoadipic 2-Oxoadipic Aciduria DHTKD1 darier-white disease darier_white_disease Darier-White Disease ATP2A2 DOID:2734 interstitial lung and liver disease interstitial_lung_and_liver_disease Interstitial Lung and Liver Disease MARS mismatch repair cancer syndrome mismatch_repair_cancer_syndrome Mismatch Repair Cancer Syndrome MLH1 thiamine metabolism dysfunction syndrome 5 thiamine_metabolism_dysfunction_syndrome_5 Thiamine Metabolism Dysfunction Syndrome 5 TPK1 protoporphyria, erythropoietic protoporphyria_erythropoietic Protoporphyria, Erythropoietic FECH DOID:13270 waardenburg syndrome, type 1 waardenburg_syndrome_type_1 Waardenburg Syndrome, Type 1 PAX3 DOID:0110948 pyruvate dehydrogenase e1-beta deficiency pyruvate_dehydrogenase_e1_beta_deficiency Pyruvate Dehydrogenase E1-Beta Deficiency PDHB phosphoglycerate dehydrogenase deficiency phosphoglycerate_dehydrogenase_deficiency Phosphoglycerate Dehydrogenase Deficiency PHGDH DOID:0050722 segawa syndrome, autosomal recessive segawa_syndrome_autosomal_recessive Segawa Syndrome, Autosomal Recessive TH majeed syndrome majeed_syndrome Majeed Syndrome LPIN2 hyperparathyroidism, neonatal severe hyperparathyroidism_neonatal_severe Hyperparathyroidism, Neonatal Severe CASR focal segmental glomerulosclerosis 1 focal_segmental_glomerulosclerosis_1 Focal Segmental Glomerulosclerosis 1 ACTN4 DOID:0111128 hepatic lipase deficiency hepatic_lipase_deficiency Hepatic Lipase Deficiency LIPC afibrinogenemia, congenital afibrinogenemia_congenital Afibrinogenemia, Congenital FGB DOID:2236 mitochondrial phosphate carrier deficiency mitochondrial_phosphate_carrier_deficiency Mitochondrial Phosphate Carrier Deficiency SLC25A3 phosphoglycerate kinase 1 deficiency phosphoglycerate_kinase_1_deficiency Phosphoglycerate Kinase 1 Deficiency PGK1 combined oxidative phosphorylation deficiency 20 combined_oxidative_phosphorylation_deficiency_20 Combined Oxidative Phosphorylation Deficiency 20 VARS2 cerebral creatine deficiency syndrome 2 cerebral_creatine_deficiency_syndrome_2 Cerebral Creatine Deficiency Syndrome 2 GAMT DOID:0050799 nephrogenic syndrome of inappropriate antidiuresis nephrogenic_syndrome_of_inappropriate_antidiuresis Nephrogenic Syndrome of Inappropriate Antidiuresis AVPR2 spondylometaphyseal dysplasia, kozlowski type spondylometaphyseal_dysplasia_kozlowski_type_2 Spondylometaphyseal Dysplasia, Kozlowski Type TRPV4 beaulieu-boycott-innes syndrome beaulieu_boycott_innes_syndrome Beaulieu-Boycott-Innes Syndrome THOC6 pierson syndrome pierson_syndrome Pierson Syndrome LAMB2 DOID:0060852 aromatase deficiency aromatase_deficiency Aromatase Deficiency CYP19A1 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ectodermal_dysplasia_ectrodactyly_and_macular_dystrophy_syndrome Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome CDH3 combined oxidative phosphorylation deficiency 13 combined_oxidative_phosphorylation_deficiency_13 Combined Oxidative Phosphorylation Deficiency 13 PNPT1 transient bullous dermolysis of the newborn transient_bullous_dermolysis_of_the_newborn Transient Bullous Dermolysis of the Newborn COL7A1 combined oxidative phosphorylation deficiency 11 combined_oxidative_phosphorylation_deficiency_11 Combined Oxidative Phosphorylation Deficiency 11 RMND1 autoinflammation with infantile enterocolitis autoinflammation_with_infantile_enterocolitis Autoinflammation with Infantile Enterocolitis NLRC4 porphyria, congenital erythropoietic porphyria_congenital_erythropoietic Porphyria, Congenital Erythropoietic UROS crouzon syndrome with acanthosis nigricans crouzon_syndrome_with_acanthosis_nigricans Crouzon Syndrome with Acanthosis Nigricans FGFR3 DOID:0111161 afibrinogenemia, congenital afibrinogenemia_congenital Afibrinogenemia, Congenital FGG DOID:2236 epidermolysis bullosa dystrophica, pretibial epidermolysis_bullosa_dystrophica_pretibial Epidermolysis Bullosa Dystrophica, Pretibial COL7A1 stickler syndrome, type i stickler_syndrome_type_i Stickler Syndrome, Type I COL2A1 spinocerebellar ataxia, autosomal recessive 2 spinocerebellar_ataxia_autosomal_recessive_2 Spinocerebellar Ataxia, Autosomal Recessive 2 PMPCA DOID:0080061 mucolipidosis iii gamma mucolipidosis_iii_gamma Mucolipidosis Iii Gamma GNPTG epileptic encephalopathy, early infantile, 9 epileptic_encephalopathy_early_infantile_9 Epileptic Encephalopathy, Early Infantile, 9 PCDH19 DOID:0060848 ventriculomegaly with cystic kidney disease ventriculomegaly_with_cystic_kidney_disease Ventriculomegaly with Cystic Kidney Disease CRB2 hyperferritinemia with or without cataract hyperferritinemia_with_or_without_cataract Hyperferritinemia with or Without Cataract FTL porphyria variegata porphyria_variegata Porphyria Variegata PPOX DOID:4346 combined oxidative phosphorylation deficiency 24 combined_oxidative_phosphorylation_deficiency_24 Combined Oxidative Phosphorylation Deficiency 24 NARS2 meacham syndrome meacham_syndrome Meacham Syndrome WT1 xanthinuria, type ii xanthinuria_type_ii Xanthinuria, Type Ii MOCOS charcot-marie-tooth disease, type 4j charcot_marie_tooth_disease_type_4j Charcot-Marie-Tooth Disease, Type 4j FIG4 DOID:0110184 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_and_genital_anomalies Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies CDKN1C DOID:0050885 diarrhea 2, with microvillus atrophy diarrhea_2_with_microvillus_atrophy Diarrhea 2, with Microvillus Atrophy MYO5B DOID:0060775 mitochondrial dna depletion syndrome 11 mitochondrial_dna_depletion_syndrome_11 Mitochondrial Dna Depletion Syndrome 11 MGME1 DOID:0080129 bleeding disorder, platelet-type, 8 bleeding_disorder_platelet_type_8 Bleeding Disorder, Platelet-Type, 8 P2RY12 DOID:0060692 combined oxidative phosphorylation deficiency 6 combined_oxidative_phosphorylation_deficiency_6 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 microcephaly-capillary malformation syndrome microcephaly_capillary_malformation_syndrome Microcephaly-Capillary Malformation Syndrome STAMBP neutropenia, severe congenital, x-linked neutropenia_severe_congenital_x_linked Neutropenia, Severe Congenital, X-Linked WAS prothrombin deficiency, congenital prothrombin_deficiency_congenital Prothrombin Deficiency, Congenital F2 von willebrand disease, type 2 von_willebrand_disease_type_2 Von Willebrand Disease, Type 2 VWF DOID:0060574 mitochondrial pyruvate carrier deficiency mitochondrial_pyruvate_carrier_deficiency Mitochondrial Pyruvate Carrier Deficiency MPC1 short stature, developmental delay, and congenital heart defects short_stature_developmental_delay_and_congenital_heart_defects Short Stature, Developmental Delay, and Congenital Heart Defects TKT ruijs-aalfs syndrome ruijs_aalfs_syndrome Ruijs-Aalfs Syndrome SPRTN welander distal myopathy welander_distal_myopathy Welander Distal Myopathy TIA1 dihydropyrimidinase deficiency dihydropyrimidinase_deficiency Dihydropyrimidinase Deficiency DPYS microcephaly, epilepsy, and diabetes syndrome microcephaly_epilepsy_and_diabetes_syndrome Microcephaly, Epilepsy, and Diabetes Syndrome IER3IP1 neurofibromatosis, type ii neurofibromatosis_type_ii Neurofibromatosis, Type Ii NF2 DOID:6543 otospondylomegaepiphyseal dysplasia, autosomal dominant otospondylomegaepiphyseal_dysplasia_autosomal_dominant Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant COL11A2 DOID:4258 smith-kingsmore syndrome smith_kingsmore_syndrome Smith-Kingsmore Syndrome MTOR kosaki overgrowth syndrome kosaki_overgrowth_syndrome Kosaki Overgrowth Syndrome PDGFRB spastic paraplegia 54, autosomal recessive spastic_paraplegia_54_autosomal_recessive Spastic Paraplegia 54, Autosomal Recessive DDHD2 DOID:0110806 cerebral creatine deficiency syndrome 3 cerebral_creatine_deficiency_syndrome_3 Cerebral Creatine Deficiency Syndrome 3 GATM DOID:0050712 diabetes mellitus, permanent neonatal diabetes_mellitus_permanent_neonatal Diabetes Mellitus, Permanent Neonatal KCNJ11 DOID:0060639 gordon holmes syndrome gordon_holmes_syndrome Gordon Holmes Syndrome RNF216 chondrodysplasia, blomstrand type chondrodysplasia_blomstrand_type_2 Chondrodysplasia, Blomstrand Type PTH1R DOID:0060387 multiple pterygium syndrome, lethal type multiple_pterygium_syndrome_lethal_type_2 Multiple Pterygium Syndrome, Lethal Type CHRND afibrinogenemia, congenital afibrinogenemia_congenital Afibrinogenemia, Congenital FGA DOID:2236 masa syndrome masa_syndrome Masa Syndrome L1CAM DOID:0060246 temple-baraitser syndrome temple_baraitser_syndrome Temple-Baraitser Syndrome KCNH1 spondyloepiphyseal dysplasia, stanescu type spondyloepiphyseal_dysplasia_stanescu_type Spondyloepiphyseal Dysplasia, Stanescu Type COL2A1 bestrophinopathy, autosomal recessive bestrophinopathy_autosomal_recessive Bestrophinopathy, Autosomal Recessive BEST1 craniosynostosis 2 craniosynostosis_2 Craniosynostosis 2 MSX2 epithelial recurrent erosion dystrophy epithelial_recurrent_erosion_dystrophy Epithelial Recurrent Erosion Dystrophy COL17A1 spastic paraplegia 2, x-linked spastic_paraplegia_2_x_linked Spastic Paraplegia 2, X-Linked PLP1 DOID:0110773 dystonia 4, torsion, autosomal dominant dystonia_4_torsion_autosomal_dominant Dystonia 4, Torsion, Autosomal Dominant TUBB4A lipoprotein glomerulopathy lipoprotein_glomerulopathy Lipoprotein Glomerulopathy APOE gastrointestinal defects and immunodeficiency syndrome gastrointestinal_defects_and_immunodeficiency_syndrome Gastrointestinal Defects and Immunodeficiency Syndrome TTC7A DOID:14671 bare lymphocyte syndrome, type ii bare_lymphocyte_syndrome_type_ii Bare Lymphocyte Syndrome, Type Ii CIITA DOID:5812 sturge-weber syndrome sturge_weber_syndrome Sturge-Weber Syndrome GNAQ multiple congenital anomalies-hypotonia-seizures syndrome 3 multiple_congenital_anomalies_hypotonia_seizures_syndrome_3 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 PIGT DOID:0080140 osteogenesis imperfecta, type v osteogenesis_imperfecta_type_v Osteogenesis Imperfecta, Type V IFITM5 DOID:0110344 spastic paraplegia 56, autosomal recessive spastic_paraplegia_56_autosomal_recessive Spastic Paraplegia 56, Autosomal Recessive CYP2U1 DOID:0110808 charcot-marie-tooth disease, x-linked recessive, 5 charcot_marie_tooth_disease_x_linked_recessive_5 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 PRPS1 DOID:0110210 d-2-hydroxyglutaric aciduria 1 d_2_hydroxyglutaric_aciduria_1 D-2-Hydroxyglutaric Aciduria 1 D2HGDH DOID:0050575 bisphosphoglycerate mutase deficiency bisphosphoglycerate_mutase_deficiency Bisphosphoglycerate Mutase Deficiency BPGM deafness, autosomal dominant 22 deafness_autosomal_dominant_22 Deafness, Autosomal Dominant 22 MYO6 DOID:0110552 dent disease 2 dent_disease_2 Dent Disease 2 OCRL bent bone dysplasia syndrome bent_bone_dysplasia_syndrome Bent Bone Dysplasia Syndrome FGFR2 smith-mccort dysplasia 1 smith_mccort_dysplasia_1 Smith-Mccort Dysplasia 1 DYM DOID:0060247 fibular hypoplasia and complex brachydactyly fibular_hypoplasia_and_complex_brachydactyly Fibular Hypoplasia and Complex Brachydactyly GDF5 DOID:0050790 diabetes mellitus, permanent neonatal diabetes_mellitus_permanent_neonatal Diabetes Mellitus, Permanent Neonatal ABCC8 DOID:0060639 manitoba oculotrichoanal syndrome manitoba_oculotrichoanal_syndrome Manitoba Oculotrichoanal Syndrome FREM1 craniometaphyseal dysplasia, autosomal dominant craniometaphyseal_dysplasia_autosomal_dominant Craniometaphyseal Dysplasia, Autosomal Dominant ANKH DOID:0080033 metaphyseal dysplasia, spahr type metaphyseal_dysplasia_spahr_type Metaphyseal Dysplasia, Spahr Type MMP13 corneal dystrophy, reis-bucklers type corneal_dystrophy_reis_bucklers_type Corneal Dystrophy, Reis-Bucklers Type TGFBI DOID:0060453 dystonia 25 dystonia_25 Dystonia 25 GNAL DOID:0090055 codas syndrome codas_syndrome Codas Syndrome LONP1 glycogen storage disease vi glycogen_storage_disease_vi Glycogen Storage Disease Vi PYGL DOID:2754 synpolydactyly 1 synpolydactyly_1 Synpolydactyly 1 HOXD13 leukoencephalopathy with vanishing white matter leukoencephalopathy_with_vanishing_white_matter Leukoencephalopathy with Vanishing White Matter EIF2B3 DOID:0060868 microcephaly, amish type microcephaly_amish_type Microcephaly, Amish Type SLC25A19 mental retardation, x-linked, syndromic, claes-jensen type mental_retardation_x_linked_syndromic_claes_jensen_type Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type KDM5C DOID:0060809 myopathy, tubular aggregate, 1 myopathy_tubular_aggregate_1 Myopathy, Tubular Aggregate, 1 STIM1 DOID:0080089 mucolipidosis iii alpha/beta mucolipidosis_iii_alpha_beta Mucolipidosis Iii Alpha/beta GNPTAB DOID:0080071 curry-jones syndrome curry_jones_syndrome_2 Curry-Jones Syndrome SMO diarrhea 5, with tufting enteropathy, congenital diarrhea_5_with_tufting_enteropathy_congenital Diarrhea 5, with Tufting Enteropathy, Congenital EPCAM DOID:0060776 pontocerebellar hypoplasia, type 9 pontocerebellar_hypoplasia_type_9_2 Pontocerebellar Hypoplasia, Type 9 AMPD2 DOID:0060278 neurodegeneration with brain iron accumulation 6 neurodegeneration_with_brain_iron_accumulation_6 Neurodegeneration with Brain Iron Accumulation 6 COASY DOID:0110740 hermansky-pudlak syndrome 2 hermansky_pudlak_syndrome_2_2 Hermansky-Pudlak Syndrome 2 AP3B1 DOID:0060540 tumoral calcinosis, normophosphatemic, familial tumoral_calcinosis_normophosphatemic_familial Tumoral Calcinosis, Normophosphatemic, Familial SAMD9 DOID:0080170 tylosis with esophageal cancer tylosis_with_esophageal_cancer Tylosis with Esophageal Cancer RHBDF2 opsismodysplasia opsismodysplasia Opsismodysplasia INPPL1 ceroid lipofuscinosis, neuronal, 13 ceroid_lipofuscinosis_neuronal_13 Ceroid Lipofuscinosis, Neuronal, 13 CTSF DOID:0110727 brittle cornea syndrome 2 brittle_cornea_syndrome_2 Brittle Cornea Syndrome 2 PRDM5 DOID:14775 pierpont syndrome pierpont_syndrome Pierpont Syndrome TBL1XR1 gillespie syndrome gillespie_syndrome Gillespie Syndrome ITPR1 hypertension and brachydactyly syndrome hypertension_and_brachydactyly_syndrome Hypertension and Brachydactyly Syndrome PDE3A estrogen resistance estrogen_resistance Estrogen Resistance ESR1 hypoparathyroidism, sensorineural deafness, and renal disease hypoparathyroidism_sensorineural_deafness_and_renal_disease Hypoparathyroidism, Sensorineural Deafness, and Renal Disease GATA3 DOID:0060878 leukodystrophy, hypomyelinating, 2 leukodystrophy_hypomyelinating_2 Leukodystrophy, Hypomyelinating, 2 GJC2 DOID:0060787 corneal dystrophy, thiel-behnke type corneal_dystrophy_thiel_behnke_type_2 Corneal Dystrophy, Thiel-Behnke Type TGFBI DOID:0060455 cole disease cole_disease Cole Disease ENPP1 white sponge nevus 1 white_sponge_nevus_1 White Sponge Nevus 1 KRT4 DOID:0050448 rhizomelic chondrodysplasia punctata, type 3 rhizomelic_chondrodysplasia_punctata_type_3 Rhizomelic Chondrodysplasia Punctata, Type 3 AGPS DOID:0110853 mirage syndrome mirage_syndrome Mirage Syndrome SAMD9 deafness, autosomal dominant 1 deafness_autosomal_dominant_1 Deafness, Autosomal Dominant 1 DIAPH1 DOID:0110541 agammaglobulinemia, x-linked agammaglobulinemia_x_linked Agammaglobulinemia, X-Linked BTK DOID:14179 multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple_congenital_anomalies_hypotonia_seizures_syndrome_2 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 PIGA DOID:0080139 mitochondrial dna depletion syndrome 5 mitochondrial_dna_depletion_syndrome_5_encephalomyopathic_with_methylmalonic_aciduria Mitochondrial Dna Depletion Syndrome 5 SUCLA2 DOID:0080124 leukodystrophy, hypomyelinating, 5 leukodystrophy_hypomyelinating_5 Leukodystrophy, Hypomyelinating, 5 FAM126A DOID:0060793 short syndrome short_syndrome Short Syndrome PIK3R1 brachyolmia type 4 with mild epiphyseal and metaphyseal changes brachyolmia_type_4_with_mild_epiphyseal_and_metaphyseal_changes Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes PAPSS2 DOID:0050812 czech dysplasia czech_dysplasia Czech Dysplasia COL2A1 carpenter syndrome 1 carpenter_syndrome_1 Carpenter Syndrome 1 RAB23 DOID:0060234 spinocerebellar ataxia, autosomal recessive 10 spinocerebellar_ataxia_autosomal_recessive_10_2 Spinocerebellar Ataxia, Autosomal Recessive 10 ANO10 DOID:0050999 coach syndrome coach_syndrome Coach Syndrome CC2D2A schizencephaly schizencephaly Schizencephaly COL4A1 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant cerebellar_ataxia_deafness_and_narcolepsy_autosomal_dominant Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant DNMT1 DOID:0050968 tritanopia tritanopia Tritanopia OPN1SW DOID:11661 diabetes mellitus, permanent neonatal diabetes_mellitus_permanent_neonatal Diabetes Mellitus, Permanent Neonatal INS DOID:0060639 coach syndrome coach_syndrome Coach Syndrome RPGRIP1L prolonged electroretinal response suppression prolonged_electroretinal_response_suppression Prolonged Electroretinal Response Suppression RGS9 DOID:0050335 corneal dystrophy, meesmann corneal_dystrophy_meesmann Corneal Dystrophy, Meesmann KRT3 DOID:0060451 spastic paraplegia 76, autosomal recessive spastic_paraplegia_76_autosomal_recessive Spastic Paraplegia 76, Autosomal Recessive CAPN1 DOID:0110821 endocrine-cerebroosteodysplasia endocrine_cerebroosteodysplasia Endocrine-Cerebroosteodysplasia ICK DOID:0060641 diabetes mellitus, permanent neonatal diabetes_mellitus_permanent_neonatal Diabetes Mellitus, Permanent Neonatal GCK DOID:0060639 spastic paraplegia 44, autosomal recessive spastic_paraplegia_44_autosomal_recessive Spastic Paraplegia 44, Autosomal Recessive GJC2 DOID:0110796 alopecia universalis congenita alopecia_universalis_congenita Alopecia Universalis Congenita HR DOID:0050634 diarrhea 4, malabsorptive, congenital diarrhea_4_malabsorptive_congenital Diarrhea 4, Malabsorptive, Congenital NEUROG3 DOID:0060779 spinal muscular atrophy, type ii spinal_muscular_atrophy_type_ii Spinal Muscular Atrophy, Type Ii SMN1 DOID:0050530 episodic ataxia, type 6 episodic_ataxia_type_6_2 Episodic Ataxia, Type 6 SLC1A3 DOID:0050994 dystonia 24 dystonia_24 Dystonia 24 ANO3 DOID:0090052 ogden syndrome ogden_syndrome Ogden Syndrome NAA10 DOID:0050781 dystonia 16 dystonia_16 Dystonia 16 PRKRA DOID:0090048 pseudo-torch syndrome 1 pseudo_torch_syndrome_1 Pseudo-Torch Syndrome 1 OCLN DOID:0050656 immunodeficiency with hyper-igm, type 3 immunodeficiency_with_hyper_igm_type_3 Immunodeficiency with Hyper-Igm, Type 3 CD40 DOID:0060023 xanthinuria, type i xanthinuria_type_i Xanthinuria, Type I XDH ichthyosis, congenital, autosomal recessive 11 ichthyosis_congenital_autosomal_recessive_11 Ichthyosis, Congenital, Autosomal Recessive 11 ST14 DOID:0060720 ablepharon-macrostomia syndrome ablepharon_macrostomia_syndrome_2 Ablepharon-Macrostomia Syndrome TWIST2 DOID:0060550 griscelli syndrome, type 3 griscelli_syndrome_type_3_2 Griscelli Syndrome, Type 3 MLPH DOID:0060834 leukodystrophy, hypomyelinating, 4 leukodystrophy_hypomyelinating_4 Leukodystrophy, Hypomyelinating, 4 HSPD1 DOID:0060789 corneal dystrophy, fleck corneal_dystrophy_fleck Corneal Dystrophy, Fleck PIKFYVE DOID:0060448 endosteal hyperostosis, autosomal dominant endosteal_hyperostosis_autosomal_dominant Endosteal Hyperostosis, Autosomal Dominant LRP5 DOID:4254 anemia, congenital dyserythropoietic, type ia anemia_congenital_dyserythropoietic_type_ia Anemia, Congenital Dyserythropoietic, Type Ia CDAN1 corneal dystrophy, groenouw type i corneal_dystrophy_groenouw_type_i Corneal Dystrophy, Groenouw Type I TGFBI acth deficiency, isolated acth_deficiency_isolated Acth Deficiency, Isolated TBX19 DOID:0080150 lipoid proteinosis of urbach and wiethe lipoid_proteinosis_of_urbach_and_wiethe Lipoid Proteinosis of Urbach and Wiethe ECM1 DOID:14498 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_positive_nk_cell_negative Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative JAK3 DOID:0090013 polydactyly, postaxial, type a1 polydactyly_postaxial_type_a1 Polydactyly, Postaxial, Type A1 GLI3 myoclonic epilepsy of lafora myoclonic_epilepsy_of_lafora Myoclonic Epilepsy of Lafora NHLRC1 DOID:3534 shwachman-diamond syndrome 1 shwachman_diamond_syndrome_1 Shwachman-Diamond Syndrome 1 SBDS DOID:0060479 epilepsy, familial focal, with variable foci 1 epilepsy_familial_focal_with_variable_foci_1_2 Epilepsy, Familial Focal, with Variable Foci 1 DEPDC5 hypokalemic periodic paralysis, type 1 hypokalemic_periodic_paralysis_type_1_2 Hypokalemic Periodic Paralysis, Type 1 CACNA1S DOID:14452 atrial septal defect 7 with or without atrioventricular conduction defects atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects NKX2-5 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation renal_tubular_acidosis_proximal_with_ocular_abnormalities_and_mental_retardation Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation SLC4A4 periventricular nodular heterotopia 1 periventricular_nodular_heterotopia_1 Periventricular Nodular Heterotopia 1 FLNA central hypoventilation syndrome, congenital central_hypoventilation_syndrome_congenital Central Hypoventilation Syndrome, Congenital RET DOID:0060731 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_positive_nk_cell_positive Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive IL7R DOID:0090014 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant spinal_muscular_atrophy_lower_extremity_predominant_2_autosomal_dominant Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Autosomal Dominant BICD2 glycogen storage disease of heart, lethal congenital glycogen_storage_disease_of_heart_lethal_congenital Glycogen Storage Disease of Heart, Lethal Congenital PRKAG2 DOID:0090101 charcot-marie-tooth disease, demyelinating, type 1a charcot_marie_tooth_disease_demyelinating_type_1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1a PMP22 DOID:0110148 neuropathy, hereditary sensory and autonomic, type iii neuropathy_hereditary_sensory_and_autonomic_type_iii Neuropathy, Hereditary Sensory and Autonomic, Type Iii ELP1 DOID:11589 noonan syndrome-like disorder with loose anagen hair 1 noonan_syndrome_like_disorder_with_loose_anagen_hair_1 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 SHOC2 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity alpha_beta_t_cell_lymphopenia_with_gamma_delta_t_cell_expansion_severe_cytomegalovirus_infection_and_autoimmunity Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity RAG1 factor v and factor viii, combined deficiency of, 2 factor_v_and_factor_viii_combined_deficiency_of_2 Factor V and Factor Viii, Combined Deficiency of, 2 MCFD2 b-cell expansion with nfkb and t-cell anergy b_cell_expansion_with_nfkb_and_t_cell_anergy B-Cell Expansion with Nfkb and T-Cell Anergy CARD11 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum encephalopathy_progressive_early_onset_with_brain_atrophy_and_thin_corpus_callosum Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum TBCD hypertrophic neuropathy of dejerine-sottas hypertrophic_neuropathy_of_dejerine_sottas Hypertrophic Neuropathy of Dejerine-Sottas MPZ DOID:0050540 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy microcephaly_progressive_with_seizures_and_cerebral_and_cerebellar_atrophy Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy QARS schopf-schulz-passarge syndrome schopf_schulz_passarge_syndrome Schopf-Schulz-Passarge Syndrome WNT10A refsum disease, classic refsum_disease_classic Refsum Disease, Classic PHYH DOID:10582 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency lipid_storage_myopathy_due_to_flavin_adenine_dinucleotide_synthetase_deficiency Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency FLAD1 proprotein convertase 1/3 deficiency proprotein_convertase_1_3_deficiency Proprotein Convertase 1/3 Deficiency PCSK1 bare lymphocyte syndrome, type ii bare_lymphocyte_syndrome_type_ii Bare Lymphocyte Syndrome, Type Ii RFX5 DOID:5812 lethal arthrogryposis with anterior horn cell disease lethal_arthrogryposis_with_anterior_horn_cell_disease Lethal Arthrogryposis with Anterior Horn Cell Disease GLE1 combined cellular and humoral immune defects with granulomas combined_cellular_and_humoral_immune_defects_with_granulomas Combined Cellular and Humoral Immune Defects with Granulomas RAG1 stuve-wiedemann syndrome stuve_wiedemann_syndrome Stuve-Wiedemann Syndrome LIFR hypertrophic neuropathy of dejerine-sottas hypertrophic_neuropathy_of_dejerine_sottas Hypertrophic Neuropathy of Dejerine-Sottas PMP22 DOID:0050540 sulfite oxidase deficiency, isolated sulfite_oxidase_deficiency_isolated Sulfite Oxidase Deficiency, Isolated SUOX episodic pain syndrome, familial, 3 episodic_pain_syndrome_familial_3 Episodic Pain Syndrome, Familial, 3 SCN11A combined oxidative phosphorylation deficiency 17 combined_oxidative_phosphorylation_deficiency_17 Combined Oxidative Phosphorylation Deficiency 17 ELAC2 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis poikiloderma_hereditary_fibrosing_with_tendon_contractures_myopathy_and_pulmonary_fibrosis Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis FAM111B spinocerebellar ataxia, autosomal recessive 12 spinocerebellar_ataxia_autosomal_recessive_12 Spinocerebellar Ataxia, Autosomal Recessive 12 WWOX DOID:0080060 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency pseudoxanthoma_elasticum_like_disorder_with_multiple_coagulation_factor_deficiency Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency GGCX immunodeficiency 26 with or without neurologic abnormalities immunodeficiency_26_with_or_without_neurologic_abnormalities_2 Immunodeficiency 26 with or Without Neurologic Abnormalities PRKDC combined oxidative phosphorylation deficiency 27 combined_oxidative_phosphorylation_deficiency_27 Combined Oxidative Phosphorylation Deficiency 27 CARS2 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck PTEN DOID:5520 molybdenum cofactor deficiency, complementation group c molybdenum_cofactor_deficiency_complementation_group_c Molybdenum Cofactor Deficiency, Complementation Group C GPHN DOID:0111166 coenzyme q10 deficiency, primary, 4 coenzyme_q10_deficiency_primary_4 Coenzyme Q10 Deficiency, Primary, 4 COQ8A bone marrow failure syndrome 1 bone_marrow_failure_syndrome_1 Bone Marrow Failure Syndrome 1 SRP72 mental retardation-hypotonic facies syndrome, x-linked, 1 mental_retardation_hypotonic_facies_syndrome_x_linked_1_2 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 ATRX progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_4 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 DGUOK vitamin d-dependent rickets, type 2a vitamin_d_dependent_rickets_type_2a Vitamin D-Dependent Rickets, Type 2a VDR epilepsy, progressive myoclonic, 4, with or without renal failure epilepsy_progressive_myoclonic_4_with_or_without_renal_failure_2 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure SCARB2 glucocorticoid resistance, generalized glucocorticoid_resistance_generalized Glucocorticoid Resistance, Generalized NR3C1 encephalopathy due to defective mitochondrial and peroxisomal fission 1 encephalopathy_due_to_defective_mitochondrial_and_peroxisomal_fission_1 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L molybdenum cofactor deficiency, complementation group b molybdenum_cofactor_deficiency_complementation_group_b Molybdenum Cofactor Deficiency, Complementation Group B MOCS2 DOID:0111163 cortical dysplasia, complex, with other brain malformations 1 cortical_dysplasia_complex_with_other_brain_malformations_1 Cortical Dysplasia, Complex, with Other Brain Malformations 1 TUBB3 DOID:0090137 glycogen storage disease vii glycogen_storage_disease_vii Glycogen Storage Disease Vii PFKM DOID:11721 radiohumeral fusions with other skeletal and craniofacial anomalies radiohumeral_fusions_with_other_skeletal_and_craniofacial_anomalies Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies CYP26B1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 megalencephaly_polymicrogyria_polydactyly_hydrocephalus_syndrome_1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 PIK3R2 mental retardation, autosomal recessive 53 mental_retardation_autosomal_recessive_53 Mental Retardation, Autosomal Recessive 53 PIGG mitochondrial dna depletion syndrome 9 mitochondrial_dna_depletion_syndrome_9_encephalomyopathic_type_with_methylmalonic_aciduria Mitochondrial Dna Depletion Syndrome 9 SUCLG1 DOID:0080128 neuropathy, hereditary motor and sensory, okinawa type neuropathy_hereditary_motor_and_sensory_okinawa_type Neuropathy, Hereditary Motor and Sensory, Okinawa Type TFG hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency hypermethioninemia_with_s_adenosylhomocysteine_hydrolase_deficiency Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency AHCY DOID:0111039 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects multiple_joint_dislocations_short_stature_and_craniofacial_dysmorphism_with_or_without_congenital_heart_defects Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects B3GAT3 combined cellular and humoral immune defects with granulomas combined_cellular_and_humoral_immune_defects_with_granulomas Combined Cellular and Humoral Immune Defects with Granulomas RAG2 nestor-guillermo progeria syndrome nestor_guillermo_progeria_syndrome Nestor-Guillermo Progeria Syndrome BANF1 antley-bixler syndrome without genital anomalies or disordered steroidogenesis antley_bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis FGFR2 short-rib thoracic dysplasia 9 with or without polydactyly short_rib_thoracic_dysplasia_9_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly IFT140 DOID:0110097 leukoencephalopathy, cystic, without megalencephaly leukoencephalopathy_cystic_without_megalencephaly Leukoencephalopathy, Cystic, Without Megalencephaly RNASET2 molybdenum cofactor deficiency, complementation group a molybdenum_cofactor_deficiency_complementation_group_a Molybdenum Cofactor Deficiency, Complementation Group a MOCS1 DOID:0111164 polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan_body_myopathy_1_with_or_without_immunodeficiency Polyglucosan Body Myopathy 1 with or Without Immunodeficiency RBCK1 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital interstitial_lung_disease_nephrotic_syndrome_and_epidermolysis_bullosa_congenital Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital ITGA3 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type osteochondrodysplasia_complex_lethal_symoens_barnes_gistelinck_type Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type TAPT1 gaucher disease, atypical, due to saposin c deficiency gaucher_disease_atypical_due_to_saposin_c_deficiency Gaucher Disease, Atypical, Due to Saposin C Deficiency PSAP DOID:0110961 polymicrogyria, bilateral frontoparietal polymicrogyria_bilateral_frontoparietal Polymicrogyria, Bilateral Frontoparietal ADGRG1 brain small vessel disease with or without ocular anomalies brain_small_vessel_disease_with_or_without_ocular_anomalies Brain Small Vessel Disease with or Without Ocular Anomalies COL4A1 DOID:0090125 neutropenia, severe congenital, 7, autosomal recessive neutropenia_severe_congenital_7_autosomal_recessive_2 Neutropenia, Severe Congenital, 7, Autosomal Recessive CSF3R retinal dystrophy, iris coloboma, and comedogenic acne syndrome retinal_dystrophy_iris_coloboma_and_comedogenic_acne_syndrome Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome RBP4 cerebral amyloid angiopathy, app-related cerebral_amyloid_angiopathy_app_related Cerebral Amyloid Angiopathy, App-Related APP DOID:0070028 hyperlipoproteinemia, type i hyperlipoproteinemia_type_i Hyperlipoproteinemia, Type I LPL ehlers-danlos syndrome, periodontal type, 1 ehlers_danlos_syndrome_periodontal_type_1_2 Ehlers-Danlos Syndrome, Periodontal Type, 1 C1R amyotrophic lateral sclerosis 21 amyotrophic_lateral_sclerosis_21 Amyotrophic Lateral Sclerosis 21 MATR3 DOID:0060212 hypothyroidism, congenital, nongoitrous, 1 hypothyroidism_congenital_nongoitrous_1 Hypothyroidism, Congenital, Nongoitrous, 1 TSHR peroxisomal fatty acyl-coa reductase 1 disorder peroxisomal_fatty_acyl_coa_reductase_1_disorder Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder FAR1 ring dermoid of cornea ring_dermoid_of_cornea Ring Dermoid of Cornea PITX2 epidermolysis bullosa junctionalis with pyloric atresia epidermolysis_bullosa_junctionalis_with_pyloric_atresia Epidermolysis Bullosa Junctionalis with Pyloric Atresia ITGB4 DOID:0060733 combined oxidative phosphorylation deficiency 23 combined_oxidative_phosphorylation_deficiency_23 Combined Oxidative Phosphorylation Deficiency 23 GTPBP3 sting-associated vasculopathy, infantile-onset sting_associated_vasculopathy_infantile_onset Sting-Associated Vasculopathy, Infantile-Onset TMEM173 congenital disorder of glycosylation, type iim congenital_disorder_of_glycosylation_type_iim Congenital Disorder of Glycosylation, Type Iim SLC35A2 epileptic encephalopathy, early infantile, 1 epileptic_encephalopathy_early_infantile_1 Epileptic Encephalopathy, Early Infantile, 1 ARX cleft palate, psychomotor retardation, and distinctive facial features cleft_palate_psychomotor_retardation_and_distinctive_facial_features Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features KDM1A progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_6_2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 DNA2 homocystinuria-megaloblastic anemia, cble complementation type homocystinuria_megaloblastic_anemia_cble_complementation_type Homocystinuria-Megaloblastic Anemia, Cble Complementation Type MTRR mental retardation, autosomal dominant 31 mental_retardation_autosomal_dominant_31 Mental Retardation, Autosomal Dominant 31 PURA DOID:0070061 neuromyotonia and axonal neuropathy, autosomal recessive neuromyotonia_and_axonal_neuropathy_autosomal_recessive Neuromyotonia and Axonal Neuropathy, Autosomal Recessive HINT1 DOID:0050526 short stature, brachydactyly, intellectual developmental disability, and seizures short_stature_brachydactyly_intellectual_developmental_disability_and_seizures Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures PRMT7 thrombophilia due to protein c deficiency, autosomal recessive thrombophilia_due_to_protein_c_deficiency_autosomal_recessive Thrombophilia Due to Protein C Deficiency, Autosomal Recessive PROC diarrhea 8, secretory sodium, congenital diarrhea_8_secretory_sodium_congenital Diarrhea 8, Secretory Sodium, Congenital SLC9A3 DOID:0060777 spinal muscular atrophy, jokela type spinal_muscular_atrophy_jokela_type Spinal Muscular Atrophy, Jokela Type CHCHD10 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions epilepsy_progressive_myoclonic_3_with_or_without_intracellular_inclusions_2 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 46,xy sex reversal 8 46xy_sex_reversal_8_2 46,xy Sex Reversal 8 AKR1C2 autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated autoinflammation_antibody_deficiency_and_immune_dysregulation_plcg2_associated Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated PLCG2 mental retardation, autosomal dominant 42 mental_retardation_autosomal_dominant_42 Mental Retardation, Autosomal Dominant 42 GNB1 DOID:0070072 mental retardation, x-linked, syndromic 33 mental_retardation_x_linked_syndromic_33_2 Mental Retardation, X-Linked, Syndromic 33 TAF1 anterior segment dysgenesis 7 anterior_segment_dysgenesis_7 Anterior Segment Dysgenesis 7 PXDN DOID:0060648 gm1-gangliosidosis, type i gm1_gangliosidosis_type_i Gm1-Gangliosidosis, Type I GLB1 legius syndrome legius_syndrome Legius Syndrome SPRED1 hyperphenylalaninemia, bh4-deficient, c hyperphenylalaninemia_bh4_deficient_c Hyperphenylalaninemia, Bh4-Deficient, C QDPR mitochondrial dna depletion syndrome 3 mitochondrial_dna_depletion_syndrome_3_hepatocerebral_type Mitochondrial Dna Depletion Syndrome 3 DGUOK DOID:0080121 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome coloboma_congenital_heart_disease_ichthyosiform_dermatosis_mental_retardation_and_ear_anomalies_syndrome Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome PIGL hyperphenylalaninemia, bh4-deficient, d hyperphenylalaninemia_bh4_deficient_d Hyperphenylalaninemia, Bh4-Deficient, D PCBD1 ifap syndrome with or without bresheck syndrome ifap_syndrome_with_or_without_bresheck_syndrome Ifap Syndrome with or Without Bresheck Syndrome MBTPS2 glycine encephalopathy with normal serum glycine glycine_encephalopathy_with_normal_serum_glycine Glycine Encephalopathy with Normal Serum Glycine SLC6A9 premature aging syndrome, penttinen type premature_aging_syndrome_penttinen_type Premature Aging Syndrome, Penttinen Type PDGFRB mandibuloacral dysplasia with type b lipodystrophy mandibuloacral_dysplasia_with_type_b_lipodystrophy Mandibuloacral Dysplasia with Type B Lipodystrophy ZMPSTE24 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy paroxysmal_nonkinesigenic_dyskinesia_3_with_or_without_generalized_epilepsy Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy KCNMA1 renal tubular acidosis, distal, with hemolytic anemia renal_tubular_acidosis_distal_with_hemolytic_anemia Renal Tubular Acidosis, Distal, with Hemolytic Anemia SLC4A1 megaloblastic anemia due to dihydrofolate reductase deficiency megaloblastic_anemia_due_to_dihydrofolate_reductase_deficiency Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency DHFR syndactyly, mesoaxial synostotic, with phalangeal reduction syndactyly_mesoaxial_synostotic_with_phalangeal_reduction Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction BHLHA9 dystonia, dopa-responsive, due to sepiapterin reductase deficiency dystonia_dopa_responsive_due_to_sepiapterin_reductase_deficiency Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency SPR DOID:0111168 glomerulopathy with fibronectin deposits 2 glomerulopathy_with_fibronectin_deposits_2 Glomerulopathy with Fibronectin Deposits 2 FN1 aicar transformylase/imp cyclohydrolase deficiency aicar_transformylase_imp_cyclohydrolase_deficiency Aicar Transformylase/imp Cyclohydrolase Deficiency ATIC chondrodysplasia with joint dislocations, gpapp type chondrodysplasia_with_joint_dislocations_gpapp_type Chondrodysplasia with Joint Dislocations, Gpapp Type IMPAD1 hypermethioninemia due to adenosine kinase deficiency hypermethioninemia_due_to_adenosine_kinase_deficiency Hypermethioninemia Due to Adenosine Kinase Deficiency ADK DOID:0111038 hyperphenylalaninemia, bh4-deficient, a hyperphenylalaninemia_bh4_deficient_a Hyperphenylalaninemia, Bh4-Deficient, a PTS DOID:0090106 mental retardation, autosomal dominant 44 mental_retardation_autosomal_dominant_44 Mental Retardation, Autosomal Dominant 44 TRIO DOID:0070074 atrial septal defect 4 atrial_septal_defect_4 Atrial Septal Defect 4 TBX20 DOID:0110109 coenzyme q10 deficiency, primary, 6 coenzyme_q10_deficiency_primary_6 Coenzyme Q10 Deficiency, Primary, 6 COQ6 neuropathy, hereditary, with or without age-related macular degeneration neuropathy_hereditary_with_or_without_age_related_macular_degeneration Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration FBLN5 spastic paraplegia 75, autosomal recessive spastic_paraplegia_75_autosomal_recessive Spastic Paraplegia 75, Autosomal Recessive MAG DOID:0110820 pituitary hormone deficiency, combined, 4 pituitary_hormone_deficiency_combined_4_2 Pituitary Hormone Deficiency, Combined, 4 LHX4 spondyloepimetaphyseal dysplasia, genevieve type spondyloepimetaphyseal_dysplasia_genevieve_type_2 Spondyloepimetaphyseal Dysplasia, Genevieve Type NANS basel-vanagaite-smirin-yosef syndrome basel_vanagaite_smirin_yosef_syndrome Basel-Vanagaite-Smirin-Yosef Syndrome MED25 hydatidiform mole, recurrent, 1 hydatidiform_mole_recurrent_1 Hydatidiform Mole, Recurrent, 1 NLRP7 lactase deficiency, congenital lactase_deficiency_congenital Lactase Deficiency, Congenital LCT pituitary hormone deficiency, combined, 3 pituitary_hormone_deficiency_combined_3_2 Pituitary Hormone Deficiency, Combined, 3 LHX3 cardiac valvular dysplasia, x-linked cardiac_valvular_dysplasia_x_linked Cardiac Valvular Dysplasia, X-Linked FLNA cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy cerebral_arteriopathy_autosomal_recessive_with_subcortical_infarcts_and_leukoencephalopathy Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy HTRA1 culler-jones syndrome culler_jones_syndrome Culler-Jones Syndrome GLI2 linear skin defects with multiple congenital anomalies 1 linear_skin_defects_with_multiple_congenital_anomalies_1 Linear Skin Defects with Multiple Congenital Anomalies 1 HCCS palmoplantar carcinoma, multiple self-healing palmoplantar_carcinoma_multiple_self_healing Palmoplantar Carcinoma, Multiple Self-Healing NLRP1 glut1 deficiency syndrome 2 glut1_deficiency_syndrome_2 Glut1 Deficiency Syndrome 2 SLC2A1 DOID:0090045 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay myopathy_mitochondrial_progressive_with_congenital_cataract_hearing_loss_and_developmental_delay Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay GFER boucher-neuhauser syndrome boucher_neuhauser_syndrome_2 Boucher-Neuhauser Syndrome PNPLA6 cholestasis, benign recurrent intrahepatic, 2 cholestasis_benign_recurrent_intrahepatic_2 Cholestasis, Benign Recurrent Intrahepatic, 2 ABCB11 epilepsy, progressive myoclonic 7 epilepsy_progressive_myoclonic_7 Epilepsy, Progressive Myoclonic 7 KCNC1 growth hormone insensitivity with immunodeficiency growth_hormone_insensitivity_with_immunodeficiency Growth Hormone Insensitivity with Immunodeficiency STAT5B epiphyseal chondrodysplasia, miura type epiphyseal_chondrodysplasia_miura_type Epiphyseal Chondrodysplasia, Miura Type NPR2 hypothyroidism, central, and testicular enlargement hypothyroidism_central_and_testicular_enlargement Hypothyroidism, Central, and Testicular Enlargement IGSF1 DOID:0111140 corticosterone methyloxidase type i deficiency corticosterone_methyloxidase_type_i_deficiency Corticosterone Methyloxidase Type I Deficiency CYP11B2 hypertrophic neuropathy of dejerine-sottas hypertrophic_neuropathy_of_dejerine_sottas Hypertrophic Neuropathy of Dejerine-Sottas EGR2 DOID:0050540 immunodeficiency 31c immunodeficiency_31c Immunodeficiency 31c STAT1 interstitial nephritis, karyomegalic interstitial_nephritis_karyomegalic Interstitial Nephritis, Karyomegalic FAN1 DOID:0060911 microphthalmia/coloboma and skeletal dysplasia syndrome microphthalmia_coloboma_and_skeletal_dysplasia_syndrome Microphthalmia/coloboma and Skeletal Dysplasia Syndrome MAB21L2 charcot-marie-tooth disease, demyelinating, type 4f charcot_marie_tooth_disease_demyelinating_type_4f Charcot-Marie-Tooth Disease, Demyelinating, Type 4f PRX DOID:0110193 stomatin-deficient cryohydrocytosis with neurologic defects stomatin_deficient_cryohydrocytosis_with_neurologic_defects Stomatin-Deficient Cryohydrocytosis with Neurologic Defects SLC2A1 mucolipidosis ii alpha/beta mucolipidosis_ii_alpha_beta Mucolipidosis Ii Alpha/beta GNPTAB desbuquois dysplasia 1 desbuquois_dysplasia_1 Desbuquois Dysplasia 1 CANT1 mirror movements 1 mirror_movements_1 Mirror Movements 1 DCC DOID:0111153 autoinflammatory syndrome, familial, behcet-like autoinflammatory_syndrome_familial_behcet_like Autoinflammatory Syndrome, Familial, Behcet-Like TNFAIP3 combined oxidative phosphorylation deficiency 1 combined_oxidative_phosphorylation_deficiency_1 Combined Oxidative Phosphorylation Deficiency 1 GFM1 deafness, x-linked 2 deafness_x_linked_2 Deafness, X-Linked 2 POU3F4 combined oxidative phosphorylation deficiency 26 combined_oxidative_phosphorylation_deficiency_26 Combined Oxidative Phosphorylation Deficiency 26 TRMT5 macrocephaly, dysmorphic facies, and psychomotor retardation macrocephaly_dysmorphic_facies_and_psychomotor_retardation Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation HERC1 ataxia-oculomotor apraxia 4 ataxia_oculomotor_apraxia_4 Ataxia-Oculomotor Apraxia 4 PNKP camptodactyly, tall stature, and hearing loss syndrome camptodactyly_tall_stature_and_hearing_loss_syndrome Camptodactyly, Tall Stature, and Hearing Loss Syndrome FGFR3 immunodeficiency, common variable, 13 immunodeficiency_common_variable_13 Immunodeficiency, Common Variable, 13 IKZF1 indifference to pain, congenital, autosomal recessive indifference_to_pain_congenital_autosomal_recessive Indifference to Pain, Congenital, Autosomal Recessive SCN9A digital arthropathy-brachydactyly, familial digital_arthropathy_brachydactyly_familial Digital Arthropathy-Brachydactyly, Familial TRPV4 mental retardation, x-linked, syndromic, nascimento type mental_retardation_x_linked_syndromic_nascimento_type Mental Retardation, X-Linked, Syndromic, Nascimento Type UBE2A ichthyosis, cyclic, with epidermolytic hyperkeratosis ichthyosis_cyclic_with_epidermolytic_hyperkeratosis Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis KRT10 polyglucosan body myopathy 2 polyglucosan_body_myopathy_2 Polyglucosan Body Myopathy 2 GYG1 dyskinesia, familial, with facial myokymia dyskinesia_familial_with_facial_myokymia Dyskinesia, Familial, with Facial Myokymia ADCY5 mental retardation, autosomal dominant 23 mental_retardation_autosomal_dominant_23 Mental Retardation, Autosomal Dominant 23 SETD5 DOID:0070053 spastic paraplegia 9b, autosomal recessive spastic_paraplegia_9b_autosomal_recessive Spastic Paraplegia 9b, Autosomal Recessive ALDH18A1 DOID:0110825 combined oxidative phosphorylation deficiency 4 combined_oxidative_phosphorylation_deficiency_4 Combined Oxidative Phosphorylation Deficiency 4 TUFM hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome hyperuricemia_pulmonary_hypertension_renal_failure_and_alkalosis_syndrome Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome SARS2 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction choreoathetosis_and_congenital_hypothyroidism_with_or_without_pulmonary_dysfunction Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction NKX2-1 macrocephaly/autism syndrome macrocephaly_autism_syndrome Macrocephaly/autism Syndrome PTEN DOID:0060867 mental retardation, autosomal dominant 19 mental_retardation_autosomal_dominant_19 Mental Retardation, Autosomal Dominant 19 CTNNB1 DOID:0070049 microcephaly, postnatal progressive, with seizures and brain atrophy microcephaly_postnatal_progressive_with_seizures_and_brain_atrophy Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy MED17 neutropenia, severe congenital, 6, autosomal recessive neutropenia_severe_congenital_6_autosomal_recessive Neutropenia, Severe Congenital, 6, Autosomal Recessive JAGN1 myopathy, centronuclear, 1 myopathy_centronuclear_1 Myopathy, Centronuclear, 1 DNM2 spinal muscular atrophy, x-linked 2 spinal_muscular_atrophy_x_linked_2 Spinal Muscular Atrophy, X-Linked 2 UBA1 asparagine synthetase deficiency asparagine_synthetase_deficiency Asparagine Synthetase Deficiency ASNS coenzyme q10 deficiency, primary, 2 coenzyme_q10_deficiency_primary_2 Coenzyme Q10 Deficiency, Primary, 2 PDSS1 dystonia 2, torsion, autosomal recessive dystonia_2_torsion_autosomal_recessive Dystonia 2, Torsion, Autosomal Recessive HPCA myopathy, vacuolar, with casq1 aggregates myopathy_vacuolar_with_casq1_aggregates Myopathy, Vacuolar, with Casq1 Aggregates CASQ1 macular dystrophy, vitelliform, 3 macular_dystrophy_vitelliform_3 Macular Dystrophy, Vitelliform, 3 PRPH2 mullerian aplasia and hyperandrogenism mullerian_aplasia_and_hyperandrogenism Mullerian Aplasia and Hyperandrogenism WNT4 spastic paraplegia 77, autosomal recessive spastic_paraplegia_77_autosomal_recessive Spastic Paraplegia 77, Autosomal Recessive FARS2 DOID:0110822 spastic paraplegia 79, autosomal recessive spastic_paraplegia_79_autosomal_recessive Spastic Paraplegia 79, Autosomal Recessive UCHL1 van maldergem syndrome 1 van_maldergem_syndrome_1 Van Maldergem Syndrome 1 DCHS1 myopathy, x-linked, with postural muscle atrophy myopathy_x_linked_with_postural_muscle_atrophy Myopathy, X-Linked, with Postural Muscle Atrophy FHL1 bleeding disorder, platelet-type, 20 bleeding_disorder_platelet_type_20 Bleeding Disorder, Platelet-Type, 20 SLFN14 DOID:0111055 anemia, sideroblastic, 3, pyridoxine-refractory anemia_sideroblastic_3_pyridoxine_refractory Anemia, Sideroblastic, 3, Pyridoxine-Refractory GLRX5 dyskinesia, limb and orofacial, infantile-onset dyskinesia_limb_and_orofacial_infantile_onset Dyskinesia, Limb and Orofacial, Infantile-Onset PDE10A scapuloperoneal myopathy, x-linked dominant scapuloperoneal_myopathy_x_linked_dominant Scapuloperoneal Myopathy, X-Linked Dominant FHL1 candidiasis, familial, 2 candidiasis_familial_2 Candidiasis, Familial, 2 CARD9 mental retardation, autosomal dominant 36 mental_retardation_autosomal_dominant_36 Mental Retardation, Autosomal Dominant 36 PPP2R1A DOID:0070066 hypoparathyroidism, familial isolated hypoparathyroidism_familial_isolated_2 Hypoparathyroidism, Familial Isolated PTH mental retardation, x-linked, syndromic, 35 mental_retardation_x_linked_syndromic_35 Mental Retardation, X-Linked, Syndromic, 35 RPL10 DOID:0080241 spastic paraplegia 53, autosomal recessive spastic_paraplegia_53_autosomal_recessive Spastic Paraplegia 53, Autosomal Recessive VPS37A DOID:0110805 striatonigral degeneration, childhood-onset striatonigral_degeneration_childhood_onset Striatonigral Degeneration, Childhood-Onset VAC14 immunoglobulin kappa light chain deficiency immunoglobulin_kappa_light_chain_deficiency Immunoglobulin Kappa Light Chain Deficiency IGKC thrombophilia due to thrombomodulin defect thrombophilia_due_to_thrombomodulin_defect Thrombophilia Due to Thrombomodulin Defect THBD ohdo syndrome, x-linked ohdo_syndrome_x_linked Ohdo Syndrome, X-Linked MED12 schuurs-hoeijmakers syndrome schuurs_hoeijmakers_syndrome Schuurs-Hoeijmakers Syndrome PACS1 DOID:0070047 congenital anomalies of kidney and urinary tract 2 congenital_anomalies_of_kidney_and_urinary_tract_2 Congenital Anomalies of Kidney and Urinary Tract 2 TBX18 DOID:0111145 spinal muscular atrophy, type i spinal_muscular_atrophy_type_i Spinal Muscular Atrophy, Type I SMN1 DOID:13137 foveal hypoplasia 2 foveal_hypoplasia_2 Foveal Hypoplasia 2 SLC38A8 spastic paraplegia 62, autosomal recessive spastic_paraplegia_62_autosomal_recessive Spastic Paraplegia 62, Autosomal Recessive ERLIN1 DOID:0110813 charcot-marie-tooth disease, axonal, type 2u charcot_marie_tooth_disease_axonal_type_2u Charcot-Marie-Tooth Disease, Axonal, Type 2u MARS DOID:0110173 spastic paraplegia 64, autosomal recessive spastic_paraplegia_64_autosomal_recessive Spastic Paraplegia 64, Autosomal Recessive ENTPD1 DOID:0110815 osteopetrosis, autosomal recessive 7 osteopetrosis_autosomal_recessive_7_2 Osteopetrosis, Autosomal Recessive 7 TNFRSF11A DOID:0110946 encephalopathy, progressive, with amyotrophy and optic atrophy encephalopathy_progressive_with_amyotrophy_and_optic_atrophy Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy TBCE mental retardation, autosomal recessive 40 mental_retardation_autosomal_recessive_40 Mental Retardation, Autosomal Recessive 40 TAF2 combined oxidative phosphorylation deficiency 5 combined_oxidative_phosphorylation_deficiency_5 Combined Oxidative Phosphorylation Deficiency 5 MRPS22 von willebrand disease, type 3 von_willebrand_disease_type_3 Von Willebrand Disease, Type 3 VWF DOID:0111054 ghosal hematodiaphyseal dysplasia ghosal_hematodiaphyseal_dysplasia Ghosal Hematodiaphyseal Dysplasia TBXAS1 immunodeficiency 41 with lymphoproliferation and autoimmunity immunodeficiency_41_with_lymphoproliferation_and_autoimmunity Immunodeficiency 41 with Lymphoproliferation and Autoimmunity IL2RA ectodermal dysplasia/short stature syndrome ectodermal_dysplasia_short_stature_syndrome Ectodermal Dysplasia/short Stature Syndrome GRHL2 psoriasis 14, pustular psoriasis_14_pustular Psoriasis 14, Pustular IL36RN leukodystrophy, hypomyelinating, 9 leukodystrophy_hypomyelinating_9 Leukodystrophy, Hypomyelinating, 9 RARS DOID:0060791 neutropenia, severe congenital, 3, autosomal recessive neutropenia_severe_congenital_3_autosomal_recessive_2 Neutropenia, Severe Congenital, 3, Autosomal Recessive HAX1 asplenia, isolated congenital asplenia_isolated_congenital Asplenia, Isolated Congenital RPSA immunodeficiency 40 immunodeficiency_40 Immunodeficiency 40 DOCK2 ectodermal dysplasia 4, hair/nail type ectodermal_dysplasia_4_hair_nail_type Ectodermal Dysplasia 4, Hair/nail Type KRT85 epileptic encephalopathy, early infantile, 39 epileptic_encephalopathy_early_infantile_39 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 immunodeficiency 31a immunodeficiency_31a Immunodeficiency 31a STAT1 thrombocytopenia with beta-thalassemia, x-linked thrombocytopenia_with_beta_thalassemia_x_linked Thrombocytopenia with Beta-Thalassemia, X-Linked GATA1 combined oxidative phosphorylation deficiency 9 combined_oxidative_phosphorylation_deficiency_9 Combined Oxidative Phosphorylation Deficiency 9 MRPL3 spinocerebellar ataxia, autosomal recessive 18 spinocerebellar_ataxia_autosomal_recessive_18 Spinocerebellar Ataxia, Autosomal Recessive 18 GRID2 DOID:0080042 pulmonary venoocclusive disease 2, autosomal recessive pulmonary_venoocclusive_disease_2_autosomal_recessive Pulmonary Venoocclusive Disease 2, Autosomal Recessive EIF2AK4 congenital cataracts, hearing loss, and neurodegeneration congenital_cataracts_hearing_loss_and_neurodegeneration Congenital Cataracts, Hearing Loss, and Neurodegeneration SLC33A1 hypogonadotropic hypogonadism 24 without anosmia hypogonadotropic_hypogonadism_24_without_anosmia Hypogonadotropic Hypogonadism 24 Without Anosmia FSHB DOID:0090088 erythrocyte lactate transporter defect erythrocyte_lactate_transporter_defect Erythrocyte Lactate Transporter Defect SLC16A1 congenital disorder of glycosylation, type if congenital_disorder_of_glycosylation_type_if Congenital Disorder of Glycosylation, Type if MPDU1 frontonasal dysplasia 1 frontonasal_dysplasia_1 Frontonasal Dysplasia 1 ALX3 mental retardation, autosomal recessive 49 mental_retardation_autosomal_recessive_49 Mental Retardation, Autosomal Recessive 49 GPT2 sacral agenesis with vertebral anomalies sacral_agenesis_with_vertebral_anomalies Sacral Agenesis with Vertebral Anomalies TBXT sotos syndrome 2 sotos_syndrome_2 Sotos Syndrome 2 NFIX craniosynostosis and dental anomalies craniosynostosis_and_dental_anomalies Craniosynostosis and Dental Anomalies IL11RA palmoplantar keratoderma and woolly hair palmoplantar_keratoderma_and_woolly_hair Palmoplantar Keratoderma and Woolly Hair KANK2 osseous heteroplasia, progressive osseous_heteroplasia_progressive Osseous Heteroplasia, Progressive GNAS mental retardation, autosomal dominant 21 mental_retardation_autosomal_dominant_21 Mental Retardation, Autosomal Dominant 21 CTCF DOID:0070051 spondyloepimetaphyseal dysplasia, x-linked spondyloepimetaphyseal_dysplasia_x_linked_2 Spondyloepimetaphyseal Dysplasia, X-Linked BGN bleeding disorder, platelet-type, 11 bleeding_disorder_platelet_type_11 Bleeding Disorder, Platelet-Type, 11 GP6 DOID:0111057 immunodeficiency 23 immunodeficiency_23 Immunodeficiency 23 PGM3 lipoyltransferase 1 deficiency lipoyltransferase_1_deficiency Lipoyltransferase 1 Deficiency LIPT1 anterior segment dysgenesis 2 anterior_segment_dysgenesis_2 Anterior Segment Dysgenesis 2 FOXE3 neutropenia, severe congenital, 5, autosomal recessive neutropenia_severe_congenital_5_autosomal_recessive Neutropenia, Severe Congenital, 5, Autosomal Recessive VPS45 alagille syndrome 2 alagille_syndrome_2 Alagille Syndrome 2 NOTCH2 epileptic encephalopathy, early infantile, 8 epileptic_encephalopathy_early_infantile_8 Epileptic Encephalopathy, Early Infantile, 8 ARHGEF9 DOID:0080215 multiple pterygium syndrome, lethal type multiple_pterygium_syndrome_lethal_type_2 Multiple Pterygium Syndrome, Lethal Type CHRNG epilepsy, progressive myoclonic, 6 epilepsy_progressive_myoclonic_6_2 Epilepsy, Progressive Myoclonic, 6 GOSR2 spastic ataxia 5, autosomal recessive spastic_ataxia_5_autosomal_recessive Spastic Ataxia 5, Autosomal Recessive AFG3L2 hyperpigmentation with or without hypopigmentation, familial progressive hyperpigmentation_with_or_without_hypopigmentation_familial_progressive Hyperpigmentation with or Without Hypopigmentation, Familial Progressive KITLG mental retardation, autosomal recessive 39 mental_retardation_autosomal_recessive_39 Mental Retardation, Autosomal Recessive 39 TTI2 oliver-mcfarlane syndrome oliver_mcfarlane_syndrome Oliver-Mcfarlane Syndrome PNPLA6 revesz syndrome revesz_syndrome Revesz Syndrome TINF2 DOID:0070026 trichohepatoenteric syndrome 1 trichohepatoenteric_syndrome_1 Trichohepatoenteric Syndrome 1 TTC37 cd8 deficiency, familial cd8_deficiency_familial Cd8 Deficiency, Familial CD8A congenital disorder of glycosylation, type ij congenital_disorder_of_glycosylation_type_ij Congenital Disorder of Glycosylation, Type Ij DPAGT1 mental retardation, autosomal recessive 38 mental_retardation_autosomal_recessive_38 Mental Retardation, Autosomal Recessive 38 HERC2 myopathy, distal, tateyama type myopathy_distal_tateyama_type Myopathy, Distal, Tateyama Type CAV3 charcot-marie-tooth disease, dominant intermediate c charcot_marie_tooth_disease_dominant_intermediate_c Charcot-Marie-Tooth Disease, Dominant Intermediate C YARS DOID:0110199 thiamine metabolism dysfunction syndrome 4 thiamine_metabolism_dysfunction_syndrome_4 Thiamine Metabolism Dysfunction Syndrome 4 SLC25A19 congenital disorder of glycosylation, type ih congenital_disorder_of_glycosylation_type_ih Congenital Disorder of Glycosylation, Type Ih ALG8 dystonia 27 dystonia_27 Dystonia 27 COL6A3 DOID:0090050 lethal congenital contracture syndrome 5 lethal_congenital_contracture_syndrome_5 Lethal Congenital Contracture Syndrome 5 DNM2 immunodeficiency 32a immunodeficiency_32a Immunodeficiency 32a IRF8 spinocerebellar ataxia, autosomal recessive 11 spinocerebellar_ataxia_autosomal_recessive_11 Spinocerebellar Ataxia, Autosomal Recessive 11 SYT14 DOID:0080063 lethal congenital contracture syndrome 3 lethal_congenital_contracture_syndrome_3 Lethal Congenital Contracture Syndrome 3 PIP5K1C DOID:0060653 immunodeficiency 30 immunodeficiency_30 Immunodeficiency 30 IL12RB1 microphthalmia, syndromic 5 microphthalmia_syndromic_5_2 Microphthalmia, Syndromic 5 OTX2 bruck syndrome 1 bruck_syndrome_1 Bruck Syndrome 1 FKBP10 immunodeficiency 28 immunodeficiency_28 Immunodeficiency 28 IFNGR2 anemia, sideroblastic, and spinocerebellar ataxia anemia_sideroblastic_and_spinocerebellar_ataxia Anemia, Sideroblastic, and Spinocerebellar Ataxia ABCB7 DOID:0060064 multiple pterygium syndrome, lethal type multiple_pterygium_syndrome_lethal_type_2 Multiple Pterygium Syndrome, Lethal Type CHRNA1 osteopetrosis, autosomal dominant 1 osteopetrosis_autosomal_dominant_1 Osteopetrosis, Autosomal Dominant 1 LRP5 DOID:0110937 osteopetrosis, autosomal recessive 3 osteopetrosis_autosomal_recessive_3_2 Osteopetrosis, Autosomal Recessive 3 CA2 DOID:0110941 mental retardation, autosomal recessive 36 mental_retardation_autosomal_recessive_36 Mental Retardation, Autosomal Recessive 36 ADAT3 hypertriglyceridemia, transient infantile hypertriglyceridemia_transient_infantile Hypertriglyceridemia, Transient Infantile GPD1 foveal hypoplasia 1 foveal_hypoplasia_1 Foveal Hypoplasia 1 PAX6 congenital disorder of glycosylation, type id congenital_disorder_of_glycosylation_type_id Congenital Disorder of Glycosylation, Type Id ALG3 bothnia retinal dystrophy bothnia_retinal_dystrophy Bothnia Retinal Dystrophy RLBP1 DOID:0050683 hyperglycinemia, lactic acidosis, and seizures hyperglycinemia_lactic_acidosis_and_seizures Hyperglycinemia, Lactic Acidosis, and Seizures LIAS congenital disorder of glycosylation, type ie congenital_disorder_of_glycosylation_type_ie Congenital Disorder of Glycosylation, Type Ie DPM1 syndactyly, type iii syndactyly_type_iii Syndactyly, Type Iii GJA1 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete adrenal_insufficiency_congenital_with_46xy_sex_reversal_partial_or_complete_2 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete CYP11A1 DOID:0050546 charcot-marie-tooth disease, dominant intermediate f charcot_marie_tooth_disease_dominant_intermediate_f Charcot-Marie-Tooth Disease, Dominant Intermediate F GNB4 DOID:0110206 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive EGR2 DOID:0110195 osteoarthritis with mild chondrodysplasia osteoarthritis_with_mild_chondrodysplasia Osteoarthritis with Mild Chondrodysplasia COL2A1 brachydactyly, type e1 brachydactyly_type_e1 Brachydactyly, Type E1 HOXD13 DOID:0110972 kenny-caffey syndrome, type 2 kenny_caffey_syndrome_type_2_2 Kenny-Caffey Syndrome, Type 2 FAM111A myoclonus, familial cortical myoclonus_familial_cortical Myoclonus, Familial Cortical NOL3 cortical malformations, occipital cortical_malformations_occipital Cortical Malformations, Occipital LAMC3 hypocalciuric hypercalcemia, familial, type iii hypocalciuric_hypercalcemia_familial_type_iii Hypocalciuric Hypercalcemia, Familial, Type Iii AP2S1 DOID:0060702 microphthalmia, syndromic 6 microphthalmia_syndromic_6_2 Microphthalmia, Syndromic 6 BMP4 spinocerebellar ataxia 42 spinocerebellar_ataxia_42 Spinocerebellar Ataxia 42 CACNA1G charcot-marie-tooth disease, dominant intermediate e charcot_marie_tooth_disease_dominant_intermediate_e Charcot-Marie-Tooth Disease, Dominant Intermediate E INF2 DOID:0110205 cerebellofaciodental syndrome cerebellofaciodental_syndrome Cerebellofaciodental Syndrome BRF1 immunodeficiency 42 immunodeficiency_42 Immunodeficiency 42 RORC mend syndrome mend_syndrome Mend Syndrome EBP peeling skin syndrome 2 peeling_skin_syndrome_2 Peeling Skin Syndrome 2 TGM5 kowarski syndrome kowarski_syndrome Kowarski Syndrome GH1 craniolenticulosutural dysplasia craniolenticulosutural_dysplasia Craniolenticulosutural Dysplasia SEC23A myopathy, centronuclear, 2 myopathy_centronuclear_2 Myopathy, Centronuclear, 2 BIN1 myopathy, myofibrillar, 2 myopathy_myofibrillar_2 Myopathy, Myofibrillar, 2 CRYAB DOID:0080093 parastremmatic dwarfism parastremmatic_dwarfism Parastremmatic Dwarfism TRPV4 chops syndrome chops_syndrome Chops Syndrome AFF4 parkinsonism-dystonia, infantile parkinsonism_dystonia_infantile Parkinsonism-Dystonia, Infantile SLC6A3 hamamy syndrome hamamy_syndrome Hamamy Syndrome IRX5 immunodeficiency 31b immunodeficiency_31b Immunodeficiency 31b STAT1 blepharocheilodontic syndrome 1 blepharocheilodontic_syndrome_1 Blepharocheilodontic Syndrome 1 CDH1 immunodeficiency 12 immunodeficiency_12 Immunodeficiency 12 MALT1 cataract 44 cataract_44 Cataract 44 LSS DOID:0110267 immunodeficiency 8 immunodeficiency_8 Immunodeficiency 8 CORO1A hyperthyroidism, familial gestational hyperthyroidism_familial_gestational Hyperthyroidism, Familial Gestational TSHR cerebrocostomandibular syndrome cerebrocostomandibular_syndrome Cerebrocostomandibular Syndrome SNRPB dysfibrinogenemia, congenital dysfibrinogenemia_congenital Dysfibrinogenemia, Congenital FGG hypomagnesemia 1, intestinal hypomagnesemia_1_intestinal Hypomagnesemia 1, Intestinal TRPM6 DOID:0060883 methylmalonic aciduria and homocystinuria, cbld type methylmalonic_aciduria_and_homocystinuria_cbld_type Methylmalonic Aciduria and Homocystinuria, Cbld Type MMADHC DOID:0050716 dystonia 9 dystonia_9 Dystonia 9 SLC2A1 DOID:0090044 immunodeficiency 33 immunodeficiency_33 Immunodeficiency 33 IKBKG immunodeficiency 34 immunodeficiency_34 Immunodeficiency 34 CYBB dysfibrinogenemia, congenital dysfibrinogenemia_congenital Dysfibrinogenemia, Congenital FGA diarrhea 6 diarrhea_6 Diarrhea 6 GUCY2C syndactyly, type v syndactyly_type_v Syndactyly, Type V HOXD13 hypomagnesemia 2, renal hypomagnesemia_2_renal Hypomagnesemia 2, Renal FXYD2 DOID:0060885 charcot-marie-tooth disease, axonal, type 2r charcot_marie_tooth_disease_axonal_type_2r Charcot-Marie-Tooth Disease, Axonal, Type 2r TRIM2 DOID:0110161 charcot-marie-tooth disease, axonal, type 2w charcot_marie_tooth_disease_axonal_type_2w Charcot-Marie-Tooth Disease, Axonal, Type 2w HARS DOID:0110162 trichomegaly trichomegaly Trichomegaly FGF5 charcot-marie-tooth disease, demyelinating, type 1d charcot_marie_tooth_disease_demyelinating_type_1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1d EGR2 DOID:0110150 immunodeficiency 9 immunodeficiency_9 Immunodeficiency 9 ORAI1 immunodeficiency 10 immunodeficiency_10 Immunodeficiency 10 STIM1 metaphyseal chondrodysplasia, jansen type metaphyseal_chondrodysplasia_jansen_type Metaphyseal Chondrodysplasia, Jansen Type PTH1R DOID:0080020 hypocalciuric hypercalcemia, familial, type ii hypocalciuric_hypercalcemia_familial_type_ii Hypocalciuric Hypercalcemia, Familial, Type Ii GNA11 DOID:0060701 isolated growth hormone deficiency, type ib isolated_growth_hormone_deficiency_type_ib Isolated Growth Hormone Deficiency, Type Ib GHRHR DOID:0060874 tyrosinemia, type iii tyrosinemia_type_iii_2 Tyrosinemia, Type Iii HPD DOID:0050727 3-hydroxyisobutyryl-coa hydrolase deficiency 3_hydroxyisobutyryl_coa_hydrolase_deficiency 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency HIBCH albinism, oculocutaneous, type ii albinism_oculocutaneous_type_ii Albinism, Oculocutaneous, Type Ii OCA2 DOID:0070096 albinism, oculocutaneous, type iii albinism_oculocutaneous_type_iii Albinism, Oculocutaneous, Type Iii TYRP1 DOID:0070097 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a charcot_marie_tooth_disease_axonal_autosomal_dominant_type_2a2a Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a MFN2 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e NEFL DOID:0110171 epiphyseal dysplasia, multiple, 4 epiphyseal_dysplasia_multiple_4 Epiphyseal Dysplasia, Multiple, 4 SLC26A2 glutaric acidemia i glutaric_acidemia_i Glutaric Acidemia I GCDH hyper-ige recurrent infection syndrome, autosomal recessive hyper_ige_recurrent_infection_syndrome_autosomal_recessive Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive DOCK8 hyperaldosteronism, familial, type iii hyperaldosteronism_familial_type_iii Hyperaldosteronism, Familial, Type Iii KCNJ5 hyperinsulinemic hypoglycemia, familial, 1 hyperinsulinemic_hypoglycemia_familial_1 Hyperinsulinemic Hypoglycemia, Familial, 1 ABCC8 leukoencephalopathy, hereditary diffuse, with spheroids leukoencephalopathy_hereditary_diffuse_with_spheroids Leukoencephalopathy, Hereditary Diffuse, with Spheroids CSF1R lipodystrophy, familial partial, type 2 lipodystrophy_familial_partial_type_2 Lipodystrophy, Familial Partial, Type 2 LMNA DOID:11712 neuronopathy, distal hereditary motor, type viii neuronopathy_distal_hereditary_motor_type_viii Neuronopathy, Distal Hereditary Motor, Type Viii TRPV4 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_positive_nk_cell_negative Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative RAG1 DOID:0090013 stickler syndrome, type ii stickler_syndrome_type_ii Stickler Syndrome, Type Ii COL11A1 peroxisomal acyl-coa oxidase deficiency peroxisomal_acyl_coa_oxidase_deficiency Peroxisomal Acyl-Coa Oxidase Deficiency ACOX1 DOID:0050797 venous malformations, multiple cutaneous and mucosal venous_malformations_multiple_cutaneous_and_mucosal Venous Malformations, Multiple Cutaneous and Mucosal TEK DOID:0050792 glycogen storage disease 0, liver glycogen_storage_disease_0_liver Glycogen Storage Disease 0, Liver GYS2 crisponi/cold-induced sweating syndrome 1 crisponi_cold_induced_sweating_syndrome_1 Crisponi/cold-Induced Sweating Syndrome 1 CRLF1 muscular dystrophy, limb-girdle, type 1c muscular_dystrophy_limb_girdle_type_1c Muscular Dystrophy, Limb-Girdle, Type 1c CAV3 corneal dystrophy, lattice type i corneal_dystrophy_lattice_type_i Corneal Dystrophy, Lattice Type I TGFBI ehlers-danlos syndrome, classic-like ehlers_danlos_syndrome_classic_like Ehlers-Danlos Syndrome, Classic-Like TNXB spinal muscular atrophy, type iii spinal_muscular_atrophy_type_iii Spinal Muscular Atrophy, Type Iii SMN1 chorea, benign hereditary chorea_benign_hereditary Chorea, Benign Hereditary NKX2-1 hyperinsulinemic hypoglycemia, familial, 6 hyperinsulinemic_hypoglycemia_familial_6 Hyperinsulinemic Hypoglycemia, Familial, 6 GLUD1 hypothyroidism, congenital, nongoitrous, 2 hypothyroidism_congenital_nongoitrous_2 Hypothyroidism, Congenital, Nongoitrous, 2 PAX8 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques palmoplantar_keratoderma_mutilating_with_periorificial_keratotic_plaques Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques TRPV3 myopathy, areflexia, respiratory distress, and dysphagia, early-onset myopathy_areflexia_respiratory_distress_and_dysphagia_early_onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset MEGF10 charcot-marie-tooth disease, axonal, type 2o charcot_marie_tooth_disease_axonal_type_2o Charcot-Marie-Tooth Disease, Axonal, Type 2o DYNC1H1 DOID:0110175 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps angiopathy_hereditary_with_nephropathy_aneurysms_and_muscle_cramps Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps COL4A1 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency methylmalonic_aciduria_due_to_methylmalonyl_coa_mutase_deficiency Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency MUT DOID:0060740 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities pineal_hyperplasia_insulin_resistant_diabetes_mellitus_and_somatic_abnormalities Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities INSR focal cortical dysplasia, type ii focal_cortical_dysplasia_type_ii Focal Cortical Dysplasia, Type Ii TSC1 isolated growth hormone deficiency, type ib isolated_growth_hormone_deficiency_type_ib Isolated Growth Hormone Deficiency, Type Ib GH1 DOID:0060874 charcot-marie-tooth disease, recessive intermediate c charcot_marie_tooth_disease_recessive_intermediate_c Charcot-Marie-Tooth Disease, Recessive Intermediate C PLEKHG5 DOID:0110198 insensitivity to pain, congenital, with anhidrosis insensitivity_to_pain_congenital_with_anhidrosis Insensitivity to Pain, Congenital, with Anhidrosis NTRK1 DOID:0070146 neuropathy, hereditary sensory and autonomic, type vii neuropathy_hereditary_sensory_and_autonomic_type_vii Neuropathy, Hereditary Sensory and Autonomic, Type Vii SCN11A DOID:0070149 hypoalphalipoproteinemia, primary hypoalphalipoproteinemia_primary Hypoalphalipoproteinemia, Primary ABCA1 nephrotic syndrome, type 5, with or without ocular abnormalities nephrotic_syndrome_type_5_with_or_without_ocular_abnormalities Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities LAMB2 myoclonic epilepsy, familial infantile myoclonic_epilepsy_familial_infantile Myoclonic Epilepsy, Familial Infantile TBC1D24 charcot-marie-tooth disease, axonal, type 2z charcot_marie_tooth_disease_axonal_type_2z_2 Charcot-Marie-Tooth Disease, Axonal, Type 2z MORC2 DOID:0110181 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to uridine_5_prime_monophosphate_hydrolase_deficiency_hemolytic_anemia_due_to Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to NT5C3A digital clubbing, isolated congenital digital_clubbing_isolated_congenital Digital Clubbing, Isolated Congenital HPGD severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation severe_combined_immunodeficiency_with_microcephaly_growth_retardation_and_sensitivity_to_ionizing_radiation Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation NHEJ1 severe combined immunodeficiency with sensitivity to ionizing radiation severe_combined_immunodeficiency_with_sensitivity_to_ionizing_radiation Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation DCLRE1C DOID:0090012 glutamine deficiency, congenital glutamine_deficiency_congenital Glutamine Deficiency, Congenital GLUL hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency hemolytic_anemia_nonspherocytic_due_to_glucose_phosphate_isomerase_deficiency Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency GPI 17-beta hydroxysteroid dehydrogenase iii deficiency 17_beta_hydroxysteroid_dehydrogenase_iii_deficiency 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency HSD17B3 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease peripheral_demyelinating_neuropathy_central_dysmyelination_waardenburg_syndrome_and_hirschsprung_disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease SOX10 DOID:0090111 spinal muscular atrophy, distal, autosomal recessive, 5 spinal_muscular_atrophy_distal_autosomal_recessive_5 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 DNAJB2 hyperthyroidism, nonautoimmune hyperthyroidism_nonautoimmune Hyperthyroidism, Nonautoimmune TSHR limb-girdle muscular dystrophy, type 1g limb_girdle_muscular_dystrophy_type_1g_2 Limb-Girdle Muscular Dystrophy, Type 1g HNRNPDL methylmalonic aciduria, cbla type methylmalonic_aciduria_cbla_type_2 Methylmalonic Aciduria, Cbla Type MMAA dentinogenesis imperfecta, shields type iii dentinogenesis_imperfecta_shields_type_iii Dentinogenesis Imperfecta, Shields Type Iii DSPP spinal muscular atrophy, late-onset, finkel type spinal_muscular_atrophy_late_onset_finkel_type Spinal Muscular Atrophy, Late-Onset, Finkel Type VAPB charcot-marie-tooth disease, recessive intermediate a charcot_marie_tooth_disease_recessive_intermediate_a_2 Charcot-Marie-Tooth Disease, Recessive Intermediate a GDAP1 DOID:0110201 leptin deficiency or dysfunction leptin_deficiency_or_dysfunction Leptin Deficiency or Dysfunction LEP charcot-marie-tooth disease, axonal, type 2d charcot_marie_tooth_disease_axonal_type_2d Charcot-Marie-Tooth Disease, Axonal, Type 2d GARS DOID:0110164 charcot-marie-tooth disease, demyelinating, type 1f charcot_marie_tooth_disease_demyelinating_type_1f Charcot-Marie-Tooth Disease, Demyelinating, Type 1f NEFL DOID:0110149 arthrogryposis, distal, type 5d arthrogryposis_distal_type_5d Arthrogryposis, Distal, Type 5d ECEL1 adenylate kinase deficiency, hemolytic anemia due to adenylate_kinase_deficiency_hemolytic_anemia_due_to Adenylate Kinase Deficiency, Hemolytic Anemia Due to AK1 glycogen storage disease ixb glycogen_storage_disease_ixb Glycogen Storage Disease Ixb PHKB DOID:0111041 odontoonychodermal dysplasia odontoonychodermal_dysplasia Odontoonychodermal Dysplasia WNT10A amyotrophic lateral sclerosis 4, juvenile amyotrophic_lateral_sclerosis_4_juvenile Amyotrophic Lateral Sclerosis 4, Juvenile SETX DOID:0060196 mental retardation, x-linked, syndromic, wu type mental_retardation_x_linked_syndromic_wu_type Mental Retardation, X-Linked, Syndromic, Wu Type GRIA3 DOID:0060823 branched-chain keto acid dehydrogenase kinase deficiency branched_chain_keto_acid_dehydrogenase_kinase_deficiency Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency BCKDK DOID:0090126 immunodeficiency with hyper-igm, type 5 immunodeficiency_with_hyper_igm_type_5_3 Immunodeficiency with Hyper-Igm, Type 5 UNG DOID:0060759 bile acid synthesis defect, congenital, 1 bile_acid_synthesis_defect_congenital_1 Bile Acid Synthesis Defect, Congenital, 1 HSD3B7 DOID:0111071 methylmalonic aciduria and homocystinuria, cblj type methylmalonic_aciduria_and_homocystinuria_cblj_type Methylmalonic Aciduria and Homocystinuria, Cblj Type ABCD4 surfactant metabolism dysfunction, pulmonary, 2 surfactant_metabolism_dysfunction_pulmonary_2 Surfactant Metabolism Dysfunction, Pulmonary, 2 SFTPC bile acid synthesis defect, congenital, 2 bile_acid_synthesis_defect_congenital_2 Bile Acid Synthesis Defect, Congenital, 2 AKR1D1 DOID:0111069 cantu syndrome cantu_syndrome Cantu Syndrome ABCC9 DOID:0060569 hemorrhagic destruction of the brain, subependymal calcification, and cataracts hemorrhagic_destruction_of_the_brain_subependymal_calcification_and_cataracts Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts JAM3 muscular dystrophy, limb-girdle, type 1e muscular_dystrophy_limb_girdle_type_1e Muscular Dystrophy, Limb-Girdle, Type 1e DNAJB6 DOID:0110305 stickler syndrome, type i, nonsyndromic ocular stickler_syndrome_type_i_nonsyndromic_ocular Stickler Syndrome, Type I, Nonsyndromic Ocular COL2A1 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in RFT1 DOID:5212 schindler disease, type i schindler_disease_type_i Schindler Disease, Type I NAGA bone fragility with contractures, arterial rupture, and deafness bone_fragility_with_contractures_arterial_rupture_and_deafness Bone Fragility with Contractures, Arterial Rupture, and Deafness PLOD3 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations infections_recurrent_with_encephalopathy_hepatic_dysfunction_and_cardiovascular_malformations Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations FADD retinal cone dystrophy 3b retinal_cone_dystrophy_3b Retinal Cone Dystrophy 3b KCNV2 spondylometaepiphyseal dysplasia, short limb-hand type spondylometaepiphyseal_dysplasia_short_limb_hand_type_2 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type DDR2 thyroid hormone resistance, selective pituitary thyroid_hormone_resistance_selective_pituitary Thyroid Hormone Resistance, Selective Pituitary THRB amelogenesis imperfecta, type ig amelogenesis_imperfecta_type_ig Amelogenesis Imperfecta, Type Ig FAM20A DOID:0110066 neuropathy, hereditary sensory and autonomic, type v neuropathy_hereditary_sensory_and_autonomic_type_v Neuropathy, Hereditary Sensory and Autonomic, Type V NGF DOID:0070145 myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy_lactic_acidosis_and_sideroblastic_anemia_1 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 waardenburg syndrome, type 2e waardenburg_syndrome_type_2e Waardenburg Syndrome, Type 2e SOX10 DOID:0110956 nail disorder, nonsyndromic congenital, 4 nail_disorder_nonsyndromic_congenital_4 Nail Disorder, Nonsyndromic Congenital, 4 RSPO4 DOID:0080082 plasminogen deficiency, type i plasminogen_deficiency_type_i Plasminogen Deficiency, Type I PLG carbonic anhydrase va deficiency, hyperammonemia due to carbonic_anhydrase_va_deficiency_hyperammonemia_due_to Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to CA5A hypomagnesemia 5, renal, with ocular involvement hypomagnesemia_5_renal_with_ocular_involvement Hypomagnesemia 5, Renal, with Ocular Involvement CLDN19 DOID:0060881 parkinson disease 15, autosomal recessive early-onset parkinson_disease_15_autosomal_recessive_early_onset Parkinson Disease 15, Autosomal Recessive Early-Onset FBXO7 DOID:0060372 immunodeficiency 14 immunodeficiency_14 Immunodeficiency 14 PIK3CD bile acid synthesis defect, congenital, 4 bile_acid_synthesis_defect_congenital_4 Bile Acid Synthesis Defect, Congenital, 4 AMACR DOID:0111068 congenital disorder of glycosylation, type iij congenital_disorder_of_glycosylation_type_iij Congenital Disorder of Glycosylation, Type Iij COG4 congenital disorder of glycosylation, type iik congenital_disorder_of_glycosylation_type_iik Congenital Disorder of Glycosylation, Type Iik TMEM165 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant ceroid_lipofuscinosis_neuronal_4b_autosomal_dominant_2 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant DNAJC5 DOID:0110720 congenital disorder of glycosylation, type iic congenital_disorder_of_glycosylation_type_iic Congenital Disorder of Glycosylation, Type Iic SLC35C1 congenital disorder of glycosylation, type ip congenital_disorder_of_glycosylation_type_ip Congenital Disorder of Glycosylation, Type Ip ALG11 diabetes mellitus, transient neonatal, 1 diabetes_mellitus_transient_neonatal_1 Diabetes Mellitus, Transient Neonatal, 1 ZFP57 DOID:0060334 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to gamma_glutamylcysteine_synthetase_deficiency_hemolytic_anemia_due_to Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to GCLC scapuloperoneal syndrome, neurogenic, kaeser type scapuloperoneal_syndrome_neurogenic_kaeser_type Scapuloperoneal Syndrome, Neurogenic, Kaeser Type DES ichthyosis, cyclic, with epidermolytic hyperkeratosis ichthyosis_cyclic_with_epidermolytic_hyperkeratosis Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis KRT1 surfactant metabolism dysfunction, pulmonary, 1 surfactant_metabolism_dysfunction_pulmonary_1 Surfactant Metabolism Dysfunction, Pulmonary, 1 SFTPB spondylometaphyseal dysplasia, megarbane-dagher-melki type spondylometaphyseal_dysplasia_megarbane_dagher_melki_type Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type PAM16 thyroid hormone metabolism, abnormal thyroid_hormone_metabolism_abnormal Thyroid Hormone Metabolism, Abnormal SECISBP2 hyperinsulinemic hypoglycemia, familial, 3 hyperinsulinemic_hypoglycemia_familial_3_2 Hyperinsulinemic Hypoglycemia, Familial, 3 GCK fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly fibular_aplasia_or_hypoplasia_femoral_bowing_and_poly_syn_and_oligodactyly Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly WNT7A DOID:0090067 properdin deficiency, x-linked properdin_deficiency_x_linked Properdin Deficiency, X-Linked CFP charcot-marie-tooth disease, demyelinating, type 1c charcot_marie_tooth_disease_demyelinating_type_1c Charcot-Marie-Tooth Disease, Demyelinating, Type 1c LITAF DOID:0110151 glycogen storage disease x glycogen_storage_disease_x Glycogen Storage Disease X PGAM2 corpus callosum, partial agenesis of, x-linked corpus_callosum_partial_agenesis_of_x_linked Corpus Callosum, Partial Agenesis of, X-Linked L1CAM lacrimoauriculodentodigital syndrome lacrimoauriculodentodigital_syndrome Lacrimoauriculodentodigital Syndrome FGF10 DOID:0050331 nail disorder, nonsyndromic congenital, 10 nail_disorder_nonsyndromic_congenital_10_2 Nail Disorder, Nonsyndromic Congenital, 10 FZD6 DOID:0080088 scaphocephaly, maxillary retrusion, and mental retardation scaphocephaly_maxillary_retrusion_and_mental_retardation Scaphocephaly, Maxillary Retrusion, and Mental Retardation FGFR2 pseudohypoaldosteronism, type iib pseudohypoaldosteronism_type_iib_2 Pseudohypoaldosteronism, Type Iib WNK4 epiphyseal dysplasia, multiple, with myopia and conductive deafness epiphyseal_dysplasia_multiple_with_myopia_and_conductive_deafness Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness COL2A1 palmoplantar keratoderma, nonepidermolytic, focal or diffuse palmoplantar_keratoderma_nonepidermolytic_focal_or_diffuse Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse KRT6C pseudohypoaldosteronism, type iid pseudohypoaldosteronism_type_iid_2 Pseudohypoaldosteronism, Type Iid KLHL3 hyperinsulinemic hypoglycemia, familial, 5 hyperinsulinemic_hypoglycemia_familial_5 Hyperinsulinemic Hypoglycemia, Familial, 5 INSR pontocerebellar hypoplasia, type 2e pontocerebellar_hypoplasia_type_2e Pontocerebellar Hypoplasia, Type 2e VPS53 DOID:0060271 2-methylbutyryl-coa dehydrogenase deficiency 2_methylbutyryl_coa_dehydrogenase_deficiency 2-Methylbutyryl-Coa Dehydrogenase Deficiency ACADSB muscular dystrophy, limb-girdle, type 2f muscular_dystrophy_limb_girdle_type_2f Muscular Dystrophy, Limb-Girdle, Type 2f SGCD rh-null, regulator type rh_null_regulator_type Rh-Null, Regulator Type RHAG wieacker-wolff syndrome wieacker_wolff_syndrome Wieacker-Wolff Syndrome ZC4H2 hyperuricemic nephropathy, familial juvenile, 2 hyperuricemic_nephropathy_familial_juvenile_2_2 Hyperuricemic Nephropathy, Familial Juvenile, 2 REN epiphyseal dysplasia, multiple, 1 epiphyseal_dysplasia_multiple_1_2 Epiphyseal Dysplasia, Multiple, 1 COMP thanatophoric dysplasia, type ii thanatophoric_dysplasia_type_ii Thanatophoric Dysplasia, Type Ii FGFR3 epidermolysis bullosa simplex, generalized epidermolysis_bullosa_simplex_generalized Epidermolysis Bullosa Simplex, Generalized KRT5 brachydactyly, type b2 brachydactyly_type_b2 Brachydactyly, Type B2 NOG DOID:0110975 apolipoprotein c-ii deficiency apolipoprotein_c_ii_deficiency Apolipoprotein C-Ii Deficiency APOC2 optic nerve hypoplasia, bilateral optic_nerve_hypoplasia_bilateral Optic Nerve Hypoplasia, Bilateral PAX6 charcot-marie-tooth disease, axonal, type 2n charcot_marie_tooth_disease_axonal_type_2n Charcot-Marie-Tooth Disease, Axonal, Type 2n AARS DOID:0110177 hypercholanemia, familial hypercholanemia_familial Hypercholanemia, Familial BAAT muscular dystrophy, limb-girdle, type 1f muscular_dystrophy_limb_girdle_type_1f Muscular Dystrophy, Limb-Girdle, Type 1f TNPO3 DOID:0110304 pseudohypoparathyroidism, type ic pseudohypoparathyroidism_type_ic Pseudohypoparathyroidism, Type Ic GNAS pseudohypoaldosteronism, type i, autosomal dominant pseudohypoaldosteronism_type_i_autosomal_dominant_2 Pseudohypoaldosteronism, Type I, Autosomal Dominant NR3C2 DOID:0060855 charcot-marie-tooth disease, axonal, type 2j charcot_marie_tooth_disease_axonal_type_2j Charcot-Marie-Tooth Disease, Axonal, Type 2j MPZ DOID:0110157 epidermolysis bullosa simplex, generalized epidermolysis_bullosa_simplex_generalized Epidermolysis Bullosa Simplex, Generalized KRT14 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to carbamoyl_phosphate_synthetase_i_deficiency_hyperammonemia_due_to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to CPS1 DOID:9280 hypercholanemia, familial hypercholanemia_familial Hypercholanemia, Familial TJP2 atelosteogenesis, type i atelosteogenesis_type_i Atelosteogenesis, Type I FLNB charcot-marie-tooth disease, axonal, type 2p charcot_marie_tooth_disease_axonal_type_2p Charcot-Marie-Tooth Disease, Axonal, Type 2p LRSAM1 DOID:0110169 charcot-marie-tooth disease, axonal, type 2i charcot_marie_tooth_disease_axonal_type_2i Charcot-Marie-Tooth Disease, Axonal, Type 2i MPZ DOID:0110158 pseudohypoaldosteronism, type i, autosomal recessive pseudohypoaldosteronism_type_i_autosomal_recessive Pseudohypoaldosteronism, Type I, Autosomal Recessive SCNN1B DOID:0060854 pseudohypoaldosteronism, type i, autosomal recessive pseudohypoaldosteronism_type_i_autosomal_recessive Pseudohypoaldosteronism, Type I, Autosomal Recessive SCNN1A DOID:0060854 charcot-marie-tooth disease, dominant intermediate d charcot_marie_tooth_disease_dominant_intermediate_d Charcot-Marie-Tooth Disease, Dominant Intermediate D MPZ DOID:0110200 lacrimoauriculodentodigital syndrome lacrimoauriculodentodigital_syndrome Lacrimoauriculodentodigital Syndrome FGFR2 DOID:0050331 lacrimoauriculodentodigital syndrome lacrimoauriculodentodigital_syndrome Lacrimoauriculodentodigital Syndrome FGFR3 DOID:0050331 muscular dystrophy-dystroglycanopathy , type c, 3 muscular_dystrophy_dystroglycanopathy_type_c_3 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 POMGNT1 DOID:0110292 li-fraumeni syndrome li_fraumeni_syndrome Li-Fraumeni Syndrome TP53 DOID:3012 birt-hogg-dube syndrome birt_hogg_dube_syndrome Birt-Hogg-Dube Syndrome FLCN DOID:0050676 muscular dystrophy, limb-girdle, type 2a muscular_dystrophy_limb_girdle_type_2a Muscular Dystrophy, Limb-Girdle, Type 2a TRAPPC11 DOID:0110275 thrombophilia due to histidine-rich glycoprotein deficiency thrombophilia_due_to_histidine_rich_glycoprotein_deficiency Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency HRG squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck ING1 DOID:5520 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e VCP DOID:0110171 alport syndrome, x-linked alport_syndrome_x_linked Alport Syndrome, X-Linked COL4A5 DOID:10983 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency adrenal_hyperplasia_congenital_due_to_17_alpha_hydroxylase_deficiency Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency CYP17A1 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency adrenal_hyperplasia_congenital_due_to_steroid_11_beta_hydroxylase_deficiency Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency CYP11B1 albinism, ocular, type i albinism_ocular_type_i Albinism, Ocular, Type I GPR143 albinism, oculocutaneous, type iv albinism_oculocutaneous_type_iv Albinism, Oculocutaneous, Type Iv SLC45A2 DOID:0070098 anemia, congenital dyserythropoietic, type ii anemia_congenital_dyserythropoietic_type_ii Anemia, Congenital Dyserythropoietic, Type Ii SEC23B anemia, congenital dyserythropoietic, type iv anemia_congenital_dyserythropoietic_type_iv Anemia, Congenital Dyserythropoietic, Type Iv KLF1 angioedema, hereditary, type i angioedema_hereditary_type_i Angioedema, Hereditary, Type I SERPING1 arthrogryposis, distal, type 2a arthrogryposis_distal_type_2a Arthrogryposis, Distal, Type 2a MYH3 arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 TPM2 arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 TNNT3 arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 TNNI2 arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 MYH3 arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 PIEZO2 arthrogryposis, distal, type 7 arthrogryposis_distal_type_7 Arthrogryposis, Distal, Type 7 MYH8 arthrogryposis, distal, type 8 arthrogryposis_distal_type_8 Arthrogryposis, Distal, Type 8 MYH3 arthrogryposis, distal, type 9 arthrogryposis_distal_type_9 Arthrogryposis, Distal, Type 9 FBN2 atelosteogenesis, type iii atelosteogenesis_type_iii Atelosteogenesis, Type Iii FLNB autoimmune lymphoproliferative syndrome, type v autoimmune_lymphoproliferative_syndrome_type_v Autoimmune Lymphoproliferative Syndrome, Type V CTLA4 brachyolmia type 3 brachyolmia_type_3 Brachyolmia Type 3 TRPV4 citrullinemia, type ii, neonatal-onset citrullinemia_type_ii_neonatal_onset Citrullinemia, Type Ii, Neonatal-Onset SLC25A13 complement component 3 deficiency, autosomal recessive complement_component_3_deficiency_autosomal_recessive Complement Component 3 Deficiency, Autosomal Recessive C3 congenital disorder of glycosylation, type ic congenital_disorder_of_glycosylation_type_ic Congenital Disorder of Glycosylation, Type Ic ALG6 congenital disorder of glycosylation, type iib congenital_disorder_of_glycosylation_type_iib Congenital Disorder of Glycosylation, Type Iib MOGS congenital disorder of glycosylation, type iil congenital_disorder_of_glycosylation_type_iil_2 Congenital Disorder of Glycosylation, Type Iil COG6 congenital disorder of glycosylation, type im congenital_disorder_of_glycosylation_type_im Congenital Disorder of Glycosylation, Type Im DOLK congenital disorder of glycosylation, type io congenital_disorder_of_glycosylation_type_io Congenital Disorder of Glycosylation, Type Io DPM3 corpus callosum, agenesis of, with abnormal genitalia corpus_callosum_agenesis_of_with_abnormal_genitalia Corpus Callosum, Agenesis of, with Abnormal Genitalia ARX cutis laxa, autosomal recessive, type ic cutis_laxa_autosomal_recessive_type_ic Cutis Laxa, Autosomal Recessive, Type Ic LTBP4 DOID:0070139 cutis laxa, autosomal recessive, type iib cutis_laxa_autosomal_recessive_type_iib Cutis Laxa, Autosomal Recessive, Type Iib PYCR1 DOID:0070137 cutis laxa, autosomal recessive, type iiib cutis_laxa_autosomal_recessive_type_iiib Cutis Laxa, Autosomal Recessive, Type Iiib PYCR1 DOID:0070138 cystinosis, adult nonnephropathic cystinosis_adult_nonnephropathic Cystinosis, Adult Nonnephropathic CTNS dopamine beta-hydroxylase deficiency, congenital dopamine_beta_hydroxylase_deficiency_congenital Dopamine Beta-Hydroxylase Deficiency, Congenital DBH DOID:0090145 dyggve-melchior-clausen disease dyggve_melchior_clausen_disease Dyggve-Melchior-Clausen Disease DYM DOID:0111167 epiphyseal dysplasia, multiple, 5 epiphyseal_dysplasia_multiple_5 Epiphyseal Dysplasia, Multiple, 5 MATN3 folate malabsorption, hereditary folate_malabsorption_hereditary Folate Malabsorption, Hereditary SLC46A1 glutaric aciduria iii glutaric_aciduria_iii Glutaric Aciduria Iii SUGCT glycogen storage disease, type ixd glycogen_storage_disease_type_ixd Glycogen Storage Disease, Type Ixd PHKA1 DOID:0111040 gm1-gangliosidosis, type ii gm1_gangliosidosis_type_ii Gm1-Gangliosidosis, Type Ii GLB1 gm1-gangliosidosis, type iii gm1_gangliosidosis_type_iii Gm1-Gangliosidosis, Type Iii GLB1 heart defects, congenital, and other congenital anomalies heart_defects_congenital_and_other_congenital_anomalies Heart Defects, Congenital, and Other Congenital Anomalies GATA6 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy hemolytic_anemia_cd59_mediated_with_or_without_immune_mediated_polyneuropathy Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy CD59 hemolytic anemia, nonspherocytic, due to hexokinase deficiency hemolytic_anemia_nonspherocytic_due_to_hexokinase_deficiency Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency HK1 hyperoxaluria, primary, type iii hyperoxaluria_primary_type_iii Hyperoxaluria, Primary, Type Iii HOGA1 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy hypertension_early_onset_autosomal_dominant_with_severe_exacerbation_in_pregnancy Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy NR3C2 immunodeficiency 56 immunodeficiency_56 Immunodeficiency 56 IL21R immunodysregulation, polyendocrinopathy, and enteropathy, x-linked immunodysregulation_polyendocrinopathy_and_enteropathy_x_linked_2 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked FOXP3 DOID:0090110 leydig cell hypoplasia, type i leydig_cell_hypoplasia_type_i Leydig Cell Hypoplasia, Type I LHCGR lipodystrophy, familial partial, type 3 lipodystrophy_familial_partial_type_3 Lipodystrophy, Familial Partial, Type 3 PPARG macrocephaly, macrosomia, and facial dysmorphism syndrome macrocephaly_macrosomia_and_facial_dysmorphism_syndrome Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome RNF135 mandibulofacial dysostosis, guion-almeida type mandibulofacial_dysostosis_guion_almeida_type Mandibulofacial Dysostosis, Guion-Almeida Type EFTUD2 DOID:0080196 methylmalonic acidemia and homocysteinemia, cblx type methylmalonic_acidemia_and_homocysteinemia_cblx_type Methylmalonic Acidemia and Homocysteinemia, Cblx Type HCFC1 mitochondrial complex i deficiency due to acad9 deficiency mitochondrial_complex_i_deficiency_due_to_acad9_deficiency Mitochondrial Complex I Deficiency Due to Acad9 Deficiency ACAD9 muscular dystrophy-dystroglycanopathy , type a, 9 muscular_dystrophy_dystroglycanopathy_type_a_9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 DAG1 muscular dystrophy-dystroglycanopathy , type c, 9 muscular_dystrophy_dystroglycanopathy_type_c_9 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 DAG1 DOID:0110293 myotonia, potassium-aggravated myotonia_potassium_aggravated Myotonia, Potassium-Aggravated SCN4A optic atrophy 3, autosomal dominant optic_atrophy_3_autosomal_dominant Optic Atrophy 3, Autosomal Dominant OPA3 orofaciodigital syndrome v orofaciodigital_syndrome_v Orofaciodigital Syndrome V DDX59 DOID:0060375 otopalatodigital syndrome, type i otopalatodigital_syndrome_type_i Otopalatodigital Syndrome, Type I FLNA otopalatodigital syndrome, type ii otopalatodigital_syndrome_type_ii Otopalatodigital Syndrome, Type Ii FLNA parkinson disease 14, autosomal recessive parkinson_disease_14_autosomal_recessive Parkinson Disease 14, Autosomal Recessive PLA2G6 DOID:0060900 parkinson disease 2, autosomal recessive juvenile parkinson_disease_2_autosomal_recessive_juvenile Parkinson Disease 2, Autosomal Recessive Juvenile PRKN DOID:0060368 platelet disorder, familial, with associated myeloid malignancy platelet_disorder_familial_with_associated_myeloid_malignancy Platelet Disorder, Familial, with Associated Myeloid Malignancy RUNX1 preaxial deficiency, postaxial polydactyly, and hypospadias preaxial_deficiency_postaxial_polydactyly_and_hypospadias_2 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias HOXA13 pseudohypoaldosteronism, type iie pseudohypoaldosteronism_type_iie_2 Pseudohypoaldosteronism, Type Iie CUL3 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness RPGR robin sequence with cleft mandible and limb anomalies robin_sequence_with_cleft_mandible_and_limb_anomalies Robin Sequence with Cleft Mandible and Limb Anomalies EIF4A3 roussy-levy hereditary areflexic dystasia roussy_levy_hereditary_areflexic_dystasia Roussy-Levy Hereditary Areflexic Dystasia MPZ severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_positive_nk_cell_negative Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative RAG2 DOID:0090013 spinal muscular atrophy, distal, autosomal recessive, 4 spinal_muscular_atrophy_distal_autosomal_recessive_4 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 PLEKHG5 spinal muscular atrophy, distal, x-linked 3 spinal_muscular_atrophy_distal_x_linked_3 Spinal Muscular Atrophy, Distal, X-Linked 3 ATP7A vitreoretinal degeneration, snowflake type vitreoretinal_degeneration_snowflake_type Vitreoretinal Degeneration, Snowflake Type KCNJ13 galactosemia galactosemia Galactosemia GALT DOID:9870 hemophilia b hemophilia_b Hemophilia B F9 DOID:12259 porphyria cutanea tarda porphyria_cutanea_tarda Porphyria Cutanea Tarda UROD DOID:5230 sickle cell anemia sickle_cell_anemia Sickle Cell Anemia HBB DOID:10923 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor KIT DOID:9253 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor PDGFRA DOID:9253 amyloidosis, hereditary, transthyretin-related amyloidosis_hereditary_transthyretin_related Amyloidosis, Hereditary, Transthyretin-Related TTR DOID:0050638 urocanase deficiency urocanase_deficiency Urocanase Deficiency UROC1 macular dystrophy, patterned, 3 macular_dystrophy_patterned_3 Macular Dystrophy, Patterned, 3 MAPKAPK3 DOID:0060865 hypertryptophanemia hypertryptophanemia Hypertryptophanemia TDO2 corneal endothelial dystrophy corneal_endothelial_dystrophy Corneal Endothelial Dystrophy SLC4A11 DOID:11554 spastic paraplegia 10, autosomal dominant spastic_paraplegia_10_autosomal_dominant Spastic Paraplegia 10, Autosomal Dominant KIF5A DOID:0110763 megaloblastic anemia 1 megaloblastic_anemia_1 Megaloblastic Anemia 1 CUBN cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia cataracts_growth_hormone_deficiency_sensory_neuropathy_sensorineural_hearing_loss_and_skeletal_dysplasia Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia IARS2 cherubism cherubism Cherubism SH3BP2 DOID:1856 anhidrosis, isolated, with normal sweat glands anhidrosis_isolated_with_normal_sweat_glands Anhidrosis, Isolated, with Normal Sweat Glands ITPR2 DOID:0060603 congenital heart defects, hamartomas of tongue, and polysyndactyly congenital_heart_defects_hamartomas_of_tongue_and_polysyndactyly Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly WDPCP giant axonal neuropathy 2, autosomal dominant giant_axonal_neuropathy_2_autosomal_dominant Giant Axonal Neuropathy 2, Autosomal Dominant DCAF8 combined oxidative phosphorylation deficiency 34 combined_oxidative_phosphorylation_deficiency_34 Combined Oxidative Phosphorylation Deficiency 34 MRPS7 facial clefting, oblique, 1 facial_clefting_oblique_1 Facial Clefting, Oblique, 1 SPECC1L coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant PAX6 mucopolysaccharidosis, type ix mucopolysaccharidosis_type_ix_2 Mucopolysaccharidosis, Type Ix HYAL1 DOID:0050809 spinal muscular atrophy with progressive myoclonic epilepsy spinal_muscular_atrophy_with_progressive_myoclonic_epilepsy Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy ASAH1 spastic paraplegia 3, autosomal dominant spastic_paraplegia_3_autosomal_dominant Spastic Paraplegia 3, Autosomal Dominant ATL1 DOID:0110791 dyschromatosis symmetrica hereditaria dyschromatosis_symmetrica_hereditaria Dyschromatosis Symmetrica Hereditaria ADAR DOID:0060257 ichthyosis, x-linked ichthyosis_x_linked Ichthyosis, X-Linked STS DOID:1700 spondyloepiphyseal dysplasia congenita spondyloepiphyseal_dysplasia_congenita Spondyloepiphyseal Dysplasia Congenita COL2A1 DOID:14789 spastic paraplegia 5a, autosomal recessive spastic_paraplegia_5a_autosomal_recessive Spastic Paraplegia 5a, Autosomal Recessive CYP7B1 DOID:0110810 epidermolysis bullosa, junctional, herlitz type epidermolysis_bullosa_junctional_herlitz_type Epidermolysis Bullosa, Junctional, Herlitz Type LAMB3 DOID:0060737 optic atrophy 1 optic_atrophy_1 Optic Atrophy 1 OPA1 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv COL1A2 DOID:0110340 fructose-1,6-bisphosphatase deficiency fructose_16_bisphosphatase_deficiency Fructose-1,6-Bisphosphatase Deficiency FBP1 DOID:5204 muscular dystrophy, limb-girdle, type 2x muscular_dystrophy_limb_girdle_type_2x Muscular Dystrophy, Limb-Girdle, Type 2x BVES DOID:0110290 muscular dystrophy, limb-girdle, type 2z muscular_dystrophy_limb_girdle_type_2z Muscular Dystrophy, Limb-Girdle, Type 2z POGLUT1 emery-dreifuss muscular dystrophy 2, autosomal dominant emery_dreifuss_muscular_dystrophy_2_autosomal_dominant Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant LMNA charcot-marie-tooth disease, x-linked dominant, 1 charcot_marie_tooth_disease_x_linked_dominant_1 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 GJB1 DOID:0110209 omenn syndrome omenn_syndrome Omenn Syndrome RAG2 DOID:0060010 pseudovaginal perineoscrotal hypospadias pseudovaginal_perineoscrotal_hypospadias Pseudovaginal Perineoscrotal Hypospadias SRD5A2 hypophosphatemic rickets, x-linked dominant hypophosphatemic_rickets_x_linked_dominant Hypophosphatemic Rickets, X-Linked Dominant PHEX DOID:0050445 mucopolysaccharidosis, type iiia mucopolysaccharidosis_type_iiia_2 Mucopolysaccharidosis, Type Iiia SGSH omenn syndrome omenn_syndrome Omenn Syndrome DCLRE1C DOID:0060010 mucopolysaccharidosis, type iiib mucopolysaccharidosis_type_iiib Mucopolysaccharidosis, Type Iiib NAGLU glutathione synthetase deficiency glutathione_synthetase_deficiency Glutathione Synthetase Deficiency GSS hereditary motor and sensory neuropathy, type iic hereditary_motor_and_sensory_neuropathy_type_iic Hereditary Motor and Sensory Neuropathy, Type Iic TRPV4 DOID:0110182 acrodermatitis enteropathica, zinc-deficiency type acrodermatitis_enteropathica_zinc_deficiency_type Acrodermatitis Enteropathica, Zinc-Deficiency Type SLC39A4 DOID:0050605 diarrhea 1, secretory chloride, congenital diarrhea_1_secretory_chloride_congenital Diarrhea 1, Secretory Chloride, Congenital SLC26A3 DOID:0060296 osteogenesis imperfecta, type ii osteogenesis_imperfecta_type_ii Osteogenesis Imperfecta, Type Ii COL1A2 DOID:0110341 fructose intolerance, hereditary fructose_intolerance_hereditary Fructose Intolerance, Hereditary ALDOB DOID:9869 metacarpal 4-5 fusion metacarpal_4_5_fusion Metacarpal 4-5 Fusion FGF16 omenn syndrome omenn_syndrome Omenn Syndrome RAG1 DOID:0060010 galactosialidosis galactosialidosis Galactosialidosis CTSA ehlers-danlos syndrome, classic type, 1 ehlers_danlos_syndrome_classic_type_1 Ehlers-Danlos Syndrome, Classic Type, 1 COL5A1 ceroid lipofuscinosis, neuronal, 8 ceroid_lipofuscinosis_neuronal_8_2 Ceroid Lipofuscinosis, Neuronal, 8 CLN8 DOID:0110723 alpha-2-plasmin inhibitor deficiency alpha_2_plasmin_inhibitor_deficiency Alpha-2-Plasmin Inhibitor Deficiency SERPINF2 DOID:0060601 muscular dystrophy, congenital merosin-deficient, 1a muscular_dystrophy_congenital_merosin_deficient_1a Muscular Dystrophy, Congenital Merosin-Deficient, 1a LAMA2 DOID:0110636 retinoschisis 1, x-linked, juvenile retinoschisis_1_x_linked_juvenile Retinoschisis 1, X-Linked, Juvenile RS1 DOID:8465 alpha-methylacetoacetic aciduria alpha_methylacetoacetic_aciduria Alpha-Methylacetoacetic Aciduria ACAT1 DOID:14723 ectodermal dysplasia 1, hypohidrotic, x-linked ectodermal_dysplasia_1_hypohidrotic_x_linked Ectodermal Dysplasia 1, Hypohidrotic, X-Linked EDA acyl-coa dehydrogenase, medium-chain, deficiency of acyl_coa_dehydrogenase_medium_chain_deficiency_of_2 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of ACADM DOID:0080153 vitamin e, familial isolated deficiency of vitamin_e_familial_isolated_deficiency_of Vitamin E, Familial Isolated Deficiency of TTPA DOID:0090028 epidermolysis bullosa, junctional, non-herlitz type epidermolysis_bullosa_junctional_non_herlitz_type Epidermolysis Bullosa, Junctional, Non-Herlitz Type COL17A1 DOID:0060738 congenital disorder of glycosylation, type ia congenital_disorder_of_glycosylation_type_ia_2 Congenital Disorder of Glycosylation, Type Ia PMM2 neuropathy, hereditary, with liability to pressure palsies neuropathy_hereditary_with_liability_to_pressure_palsies Neuropathy, Hereditary, with Liability to Pressure Palsies PMP22 DOID:0060843 epidermolysis bullosa dystrophica, autosomal recessive epidermolysis_bullosa_dystrophica_autosomal_recessive Epidermolysis Bullosa Dystrophica, Autosomal Recessive COL7A1 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency 3_hydroxy_3_methylglutaryl_coa_synthase_2_deficiency_2 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies_3 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 TBCK complement factor i deficiency complement_factor_i_deficiency Complement Factor I Deficiency CFI DOID:0050419 cortical dysplasia, complex, with other brain malformations 7 cortical_dysplasia_complex_with_other_brain_malformations_7 Cortical Dysplasia, Complex, with Other Brain Malformations 7 TUBB2B DOID:0090132 familial adenomatous polyposis 2 familial_adenomatous_polyposis_2 Familial Adenomatous Polyposis 2 MUTYH hyper-igd syndrome hyper_igd_syndrome Hyper-Igd Syndrome MVK rubinstein-taybi syndrome 1 rubinstein_taybi_syndrome_1 Rubinstein-Taybi Syndrome 1 CREBBP clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly clubfoot_congenital_with_or_without_deficiency_of_long_bones_and_or_mirror_image_polydactyly Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly PITX1 epidermolysis bullosa, junctional, non-herlitz type epidermolysis_bullosa_junctional_non_herlitz_type Epidermolysis Bullosa, Junctional, Non-Herlitz Type LAMB3 DOID:0060738 mental retardation, autosomal dominant 35 mental_retardation_autosomal_dominant_35 Mental Retardation, Autosomal Dominant 35 PPP2R5D DOID:0070065 mental retardation, autosomal dominant 47 mental_retardation_autosomal_dominant_47 Mental Retardation, Autosomal Dominant 47 STAG1 DOID:0080238 skin fragility-woolly hair syndrome skin_fragility_woolly_hair_syndrome Skin Fragility-Woolly Hair Syndrome DSP polyglucosan body neuropathy, adult form polyglucosan_body_neuropathy_adult_form Polyglucosan Body Neuropathy, Adult Form GBE1 congenital disorder of glycosylation, type ik congenital_disorder_of_glycosylation_type_ik Congenital Disorder of Glycosylation, Type Ik ALG1 melanocytic nevus syndrome, congenital melanocytic_nevus_syndrome_congenital Melanocytic Nevus Syndrome, Congenital NRAS immunodeficiency 27a immunodeficiency_27a Immunodeficiency 27a IFNGR1 takenouchi-kosaki syndrome takenouchi_kosaki_syndrome Takenouchi-Kosaki Syndrome CDC42 cataract 30, multiple types cataract_30_multiple_types Cataract 30, Multiple Types VIM hypophosphatemic rickets with hypercalciuria, hereditary hypophosphatemic_rickets_with_hypercalciuria_hereditary Hypophosphatemic Rickets with Hypercalciuria, Hereditary SLC34A3 DOID:0050947 pleuropulmonary blastoma pleuropulmonary_blastoma Pleuropulmonary Blastoma DICER1 DOID:4769 mucopolysaccharidosis, type iva mucopolysaccharidosis_type_iva Mucopolysaccharidosis, Type Iva GALNS methylmalonic aciduria and homocystinuria, cblc type methylmalonic_aciduria_and_homocystinuria_cblc_type Methylmalonic Aciduria and Homocystinuria, Cblc Type MMACHC DOID:0050715 galactokinase deficiency galactokinase_deficiency Galactokinase Deficiency GALK1 DOID:14695 charcot-marie-tooth disease, dominant intermediate b charcot_marie_tooth_disease_dominant_intermediate_b Charcot-Marie-Tooth Disease, Dominant Intermediate B DNM2 DOID:0110197 aplasia cutis congenita, nonsyndromic aplasia_cutis_congenita_nonsyndromic Aplasia Cutis Congenita, Nonsyndromic BMS1 congenital disorder of glycosylation, type ir congenital_disorder_of_glycosylation_type_ir Congenital Disorder of Glycosylation, Type Ir DDOST amyloidosis, finnish type amyloidosis_finnish_type Amyloidosis, Finnish Type GSN DOID:0050637 scheie syndrome scheie_syndrome Scheie Syndrome IDUA DOID:12802 metatropic dysplasia metatropic_dysplasia Metatropic Dysplasia TRPV4 congenital short bowel syndrome congenital_short_bowel_syndrome Congenital Short Bowel Syndrome CLMP renal tubular dysgenesis renal_tubular_dysgenesis Renal Tubular Dysgenesis AGT spastic paraplegia 8, autosomal dominant spastic_paraplegia_8_autosomal_dominant Spastic Paraplegia 8, Autosomal Dominant WASHC5 DOID:0110823 spastic paraplegia 6, autosomal dominant spastic_paraplegia_6_autosomal_dominant Spastic Paraplegia 6, Autosomal Dominant NIPA1 DOID:0110811 blue cone monochromacy blue_cone_monochromacy Blue Cone Monochromacy OPN1LW DOID:0050679 hyperprolinemia, type i hyperprolinemia_type_i Hyperprolinemia, Type I PRODH blue cone monochromacy blue_cone_monochromacy Blue Cone Monochromacy OPN1MW DOID:0050679 spastic paraplegia 12, autosomal dominant spastic_paraplegia_12_autosomal_dominant Spastic Paraplegia 12, Autosomal Dominant RTN2 DOID:0110765 vibratory urticaria vibratory_urticaria Vibratory Urticaria ADGRE2 DOID:1554 agnathia-otocephaly complex agnathia_otocephaly_complex Agnathia-Otocephaly Complex PRRX1 DOID:0060341 renal tubular dysgenesis renal_tubular_dysgenesis Renal Tubular Dysgenesis REN aland island eye disease aland_island_eye_disease Aland Island Eye Disease CACNA1F DOID:0050630 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COX6B1 DOID:3762 homocystinuria due to cystathionine beta-synthase deficiency homocystinuria_due_to_cystathionine_beta_synthase_deficiency Homocystinuria Due to Cystathionine Beta-Synthase Deficiency CBS leukocyte adhesion deficiency, type i leukocyte_adhesion_deficiency_type_i Leukocyte Adhesion Deficiency, Type I ITGB2 DOID:6612 spastic paraplegia 13, autosomal dominant spastic_paraplegia_13_autosomal_dominant Spastic Paraplegia 13, Autosomal Dominant HSPD1 DOID:0110766 renal tubular dysgenesis renal_tubular_dysgenesis Renal Tubular Dysgenesis AGTR1 charcot-marie-tooth disease, axonal, type 2k charcot_marie_tooth_disease_axonal_type_2k Charcot-Marie-Tooth Disease, Axonal, Type 2k GDAP1 DOID:0110167 alveolar capillary dysplasia with misalignment of pulmonary veins alveolar_capillary_dysplasia_with_misalignment_of_pulmonary_veins Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins FOXF1 charcot-marie-tooth disease, axonal, type 2f charcot_marie_tooth_disease_axonal_type_2f Charcot-Marie-Tooth Disease, Axonal, Type 2f HSPB1 DOID:0110163 cholestasis, progressive familial intrahepatic, 1 cholestasis_progressive_familial_intrahepatic_1_2 Cholestasis, Progressive Familial Intrahepatic, 1 ATP8B1 iron-refractory iron deficiency anemia iron_refractory_iron_deficiency_anemia Iron-Refractory Iron Deficiency Anemia TMPRSS6 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_2 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy TDP1 bosma arhinia microphthalmia syndrome bosma_arhinia_microphthalmia_syndrome Bosma Arhinia Microphthalmia Syndrome SMCHD1 mucopolysaccharidosis, type iiid mucopolysaccharidosis_type_iiid_2 Mucopolysaccharidosis, Type Iiid GNS mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COX10 DOID:3762 focal facial dermal dysplasia 3, setleis type focal_facial_dermal_dysplasia_3_setleis_type Focal Facial Dermal Dysplasia 3, Setleis Type TWIST2 lenz-majewski hyperostotic dwarfism lenz_majewski_hyperostotic_dwarfism_2 Lenz-Majewski Hyperostotic Dwarfism PTDSS1 combined oxidative phosphorylation deficiency 28 combined_oxidative_phosphorylation_deficiency_28 Combined Oxidative Phosphorylation Deficiency 28 SLC25A26 multicentric carpotarsal osteolysis syndrome multicentric_carpotarsal_osteolysis_syndrome Multicentric Carpotarsal Osteolysis Syndrome MAFB solitary median maxillary central incisor solitary_median_maxillary_central_incisor Solitary Median Maxillary Central Incisor SHH otospondylomegaepiphyseal dysplasia, autosomal recessive otospondylomegaepiphyseal_dysplasia_autosomal_recessive Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive COL11A2 van den ende-gupta syndrome van_den_ende_gupta_syndrome Van Den Ende-Gupta Syndrome SCARF2 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism POLR3A DOID:0060794 giant axonal neuropathy 1, autosomal recessive giant_axonal_neuropathy_1_autosomal_recessive Giant Axonal Neuropathy 1, Autosomal Recessive GAN DOID:0090068 megaloblastic anemia 1 megaloblastic_anemia_1 Megaloblastic Anemia 1 AMN 3-methylglutaconic aciduria, type i 3_methylglutaconic_aciduria_type_i_2 3-Methylglutaconic Aciduria, Type I AUH DOID:0110002 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COX20 DOID:3762 nevus comedonicus nevus_comedonicus Nevus Comedonicus NEK9 gaba-transaminase deficiency gaba_transaminase_deficiency Gaba-Transaminase Deficiency ABAT even-plus syndrome even_plus_syndrome Even-Plus Syndrome HSPA9 leukodystrophy, hypomyelinating, 10 leukodystrophy_hypomyelinating_10 Leukodystrophy, Hypomyelinating, 10 PYCR2 DOID:0060788 autoinflammation, panniculitis, and dermatosis syndrome autoinflammation_panniculitis_and_dermatosis_syndrome Autoinflammation, Panniculitis, and Dermatosis Syndrome OTULIN DOID:0080163 barber-say syndrome barber_say_syndrome_2 Barber-Say Syndrome TWIST2 DOID:0060549 spastic paraplegia 39, autosomal recessive spastic_paraplegia_39_autosomal_recessive Spastic Paraplegia 39, Autosomal Recessive PNPLA6 DOID:0110790 spastic paraplegia 17, autosomal dominant spastic_paraplegia_17_autosomal_dominant Spastic Paraplegia 17, Autosomal Dominant BSCL2 DOID:0110770 spastic paraplegia 26, autosomal recessive spastic_paraplegia_26_autosomal_recessive Spastic Paraplegia 26, Autosomal Recessive B4GALNT1 DOID:0110777 cardiospondylocarpofacial syndrome cardiospondylocarpofacial_syndrome Cardiospondylocarpofacial Syndrome MAP3K7 peho syndrome peho_syndrome Peho Syndrome ZNHIT3 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv COL1A1 DOID:0110340 hypotrichosis, congenital, with juvenile macular dystrophy hypotrichosis_congenital_with_juvenile_macular_dystrophy Hypotrichosis, Congenital, with Juvenile Macular Dystrophy CDH3 DOID:0110711 osteogenesis imperfecta, type ii osteogenesis_imperfecta_type_ii Osteogenesis Imperfecta, Type Ii COL1A1 DOID:0110341 cryohydrocytosis cryohydrocytosis Cryohydrocytosis SLC4A1 hypogonadotropic hypogonadism 23 without anosmia hypogonadotropic_hypogonadism_23_without_anosmia Hypogonadotropic Hypogonadism 23 Without Anosmia LHB DOID:0090091 mucopolysaccharidosis-plus syndrome mucopolysaccharidosis_plus_syndrome Mucopolysaccharidosis-Plus Syndrome VPS33A DOID:12798 hyperuricemic nephropathy, familial juvenile, 1 hyperuricemic_nephropathy_familial_juvenile_1_2 Hyperuricemic Nephropathy, Familial Juvenile, 1 UMOD DOID:0060062 myopathy, centronuclear, x-linked myopathy_centronuclear_x_linked Myopathy, Centronuclear, X-Linked MTM1 basal ganglia calcification, idiopathic, 1 basal_ganglia_calcification_idiopathic_1 Basal Ganglia Calcification, Idiopathic, 1 SLC20A2 arthrogryposis multiplex congenita, neurogenic, with myelin defect arthrogryposis_multiplex_congenita_neurogenic_with_myelin_defect Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect LGI4 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans short_stature_and_advanced_bone_age_with_or_without_early_onset_osteoarthritis_and_or_osteochondritis_dissecans Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans ACAN gaze palsy, familial horizontal, with progressive scoliosis, 1 gaze_palsy_familial_horizontal_with_progressive_scoliosis_1 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 ROBO3 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus epiphyseal_dysplasia_multiple_with_early_onset_diabetes_mellitus_2 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus EIF2AK3 DOID:0090060 hurler-scheie syndrome hurler_scheie_syndrome Hurler-Scheie Syndrome IDUA cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_and_sensorineural_hearing_loss Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss ATP1A3 hypermanganesemia with dystonia 1 hypermanganesemia_with_dystonia_1 Hypermanganesemia with Dystonia 1 SLC30A10 cleft palate with or without ankyloglossia, x-linked cleft_palate_with_or_without_ankyloglossia_x_linked Cleft Palate with or Without Ankyloglossia, X-Linked TBX22 DOID:0060613 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration metabolic_encephalomyopathic_crises_recurrent_with_rhabdomyolysis_cardiac_arrhythmias_and_neurodegeneration Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration TANGO2 anemia, hypochromic microcytic, with iron overload 1 anemia_hypochromic_microcytic_with_iron_overload_1 Anemia, Hypochromic Microcytic, with Iron Overload 1 SLC11A2 combined oxidative phosphorylation deficiency 31 combined_oxidative_phosphorylation_deficiency_31 Combined Oxidative Phosphorylation Deficiency 31 MIPEP mitochondrial dna depletion syndrome 8a mitochondrial_dna_depletion_syndrome_8a_encephalomyopathic_type_with_renal_tubulopathy Mitochondrial Dna Depletion Syndrome 8a RRM2B DOID:0080127 pyogenic sterile arthritis, pyoderma gangrenosum, and acne pyogenic_sterile_arthritis_pyoderma_gangrenosum_and_acne Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne PSTPIP1 isolated growth hormone deficiency, type ii isolated_growth_hormone_deficiency_type_ii Isolated Growth Hormone Deficiency, Type Ii GH1 DOID:0060872 microcephaly, congenital cataract, and psoriasiform dermatitis microcephaly_congenital_cataract_and_psoriasiform_dermatitis Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis MSMO1 carey-fineman-ziter syndrome carey_fineman_ziter_syndrome Carey-Fineman-Ziter Syndrome MYMK DOID:0080194 spondyloepimetaphyseal dysplasia, faden-alkuraya type spondyloepimetaphyseal_dysplasia_faden_alkuraya_type Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type RSPRY1 gabriele-de vries syndrome gabriele_de_vries_syndrome Gabriele-De Vries Syndrome YY1 gallbladder disease 1 gallbladder_disease_1 Gallbladder Disease 1 ABCB4 split-foot malformation with mesoaxial polydactyly split_foot_malformation_with_mesoaxial_polydactyly Split-Foot Malformation with Mesoaxial Polydactyly MAP3K20 corneal dystrophy, epithelial basement membrane corneal_dystrophy_epithelial_basement_membrane Corneal Dystrophy, Epithelial Basement Membrane TGFBI combined oxidative phosphorylation deficiency 30 combined_oxidative_phosphorylation_deficiency_30 Combined Oxidative Phosphorylation Deficiency 30 TRMT10C spastic paraplegia 9a, autosomal dominant spastic_paraplegia_9a_autosomal_dominant Spastic Paraplegia 9a, Autosomal Dominant ALDH18A1 DOID:0110824 waardenburg syndrome, type 3 waardenburg_syndrome_type_3_2 Waardenburg Syndrome, Type 3 PAX3 DOID:0110949 congenital disorder of glycosylation, type iip congenital_disorder_of_glycosylation_type_iip Congenital Disorder of Glycosylation, Type Iip TMEM199 hurler syndrome hurler_syndrome Hurler Syndrome IDUA multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia multiple_mitochondrial_dysfunctions_syndrome_2_with_hyperglycinemia Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 striatal degeneration, autosomal dominant 2 striatal_degeneration_autosomal_dominant_2 Striatal Degeneration, Autosomal Dominant 2 PDE10A congenital disorder of glycosylation, type iio congenital_disorder_of_glycosylation_type_iio Congenital Disorder of Glycosylation, Type Iio CCDC115 growth hormone deficiency, isolated partial growth_hormone_deficiency_isolated_partial Growth Hormone Deficiency, Isolated Partial GHSR epidermolysis bullosa simplex, autosomal recessive 1 epidermolysis_bullosa_simplex_autosomal_recessive_1 Epidermolysis Bullosa Simplex, Autosomal Recessive 1 KRT14 lissencephaly, x-linked, 2 lissencephaly_x_linked_2_2 Lissencephaly, X-Linked, 2 ARX growth hormone insensitivity, partial growth_hormone_insensitivity_partial Growth Hormone Insensitivity, Partial GHR hypoinsulinemic hypoglycemia with hemihypertrophy hypoinsulinemic_hypoglycemia_with_hemihypertrophy Hypoinsulinemic Hypoglycemia with Hemihypertrophy AKT2 mental retardation, autosomal recessive 48 mental_retardation_autosomal_recessive_48 Mental Retardation, Autosomal Recessive 48 SLC6A17 palmoplantar keratoderma and congenital alopecia 1 palmoplantar_keratoderma_and_congenital_alopecia_1 Palmoplantar Keratoderma and Congenital Alopecia 1 GJA1 uncombable hair syndrome 1 uncombable_hair_syndrome_1 Uncombable Hair Syndrome 1 PADI3 immunodeficiency, common variable, 8, with autoimmunity immunodeficiency_common_variable_8_with_autoimmunity Immunodeficiency, Common Variable, 8, with Autoimmunity LRBA overhydrated hereditary stomatocytosis overhydrated_hereditary_stomatocytosis Overhydrated Hereditary Stomatocytosis RHAG myopathy, mitochondrial, and ataxia myopathy_mitochondrial_and_ataxia Myopathy, Mitochondrial, and Ataxia MSTO1 pseudohypoparathyroidism, type ia pseudohypoparathyroidism_type_ia_2 Pseudohypoparathyroidism, Type Ia GNAS band heterotopia band_heterotopia Band Heterotopia EML1 DOID:0111169 nephrotic syndrome 14 nephrotic_syndrome_14 Nephrotic Syndrome 14 SGPL1 DOID:0080265 congenital disorder of glycosylation, type ig congenital_disorder_of_glycosylation_type_ig Congenital Disorder of Glycosylation, Type Ig ALG12 leukodystrophy, hypomyelinating, 12 leukodystrophy_hypomyelinating_12 Leukodystrophy, Hypomyelinating, 12 VPS11 DOID:0060796 leukodystrophy, hypomyelinating, 13 leukodystrophy_hypomyelinating_13 Leukodystrophy, Hypomyelinating, 13 HIKESHI DOID:0060795 craniosynostosis 4 craniosynostosis_4 Craniosynostosis 4 ERF immunodeficiency 48 immunodeficiency_48 Immunodeficiency 48 ZAP70 myopathy, distal, 5 myopathy_distal_5 Myopathy, Distal, 5 ADSSL1 cerebral amyloid angiopathy, cst3-related cerebral_amyloid_angiopathy_cst3_related Cerebral Amyloid Angiopathy, Cst3-Related CST3 DOID:9246 myopathy, proximal, and ophthalmoplegia myopathy_proximal_and_ophthalmoplegia Myopathy, Proximal, and Ophthalmoplegia MYH2 infantile sialic acid storage disease infantile_sialic_acid_storage_disease Infantile Sialic Acid Storage Disease SLC17A5 immunodeficiency 46 immunodeficiency_46 Immunodeficiency 46 TFRC immunodeficiency 50 immunodeficiency_50 Immunodeficiency 50 MSN mental retardation, x-linked, syndromic, snyder-robinson type mental_retardation_x_linked_syndromic_snyder_robinson_type Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type SMS mitochondrial complex iii deficiency, nuclear type 1 mitochondrial_complex_iii_deficiency_nuclear_type_1 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L DOID:0080111 pyridoxamine 5-prime-phosphate oxidase deficiency pyridoxamine_5_prime_phosphate_oxidase_deficiency Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency PNPO tibial muscular dystrophy, tardive tibial_muscular_dystrophy_tardive Tibial Muscular Dystrophy, Tardive TTN hyperprolinemia, type ii hyperprolinemia_type_ii Hyperprolinemia, Type Ii ALDH4A1 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity homocystinuria_due_to_deficiency_of_n_methylenetetrahydrofolate_reductase_activity Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity MTHFR neuropathy, hereditary motor and sensory, type via neuropathy_hereditary_motor_and_sensory_type_via Neuropathy, Hereditary Motor and Sensory, Type Via MFN2 DOID:0080068 pontocerebellar hypoplasia, type 7 pontocerebellar_hypoplasia_type_7_2 Pontocerebellar Hypoplasia, Type 7 TOE1 DOID:0060276 3-methylglutaconic aciduria, type viii 3_methylglutaconic_aciduria_type_viii 3-Methylglutaconic Aciduria, Type Viii HTRA2 congenital disorder of glycosylation, type iin congenital_disorder_of_glycosylation_type_iin Congenital Disorder of Glycosylation, Type Iin SLC39A8 palmoplantar keratoderma, bothnian type palmoplantar_keratoderma_bothnian_type Palmoplantar Keratoderma, Bothnian Type AQP5 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 hypertrophic_osteoarthropathy_primary_autosomal_recessive_1_2 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 HPGD methionine adenosyltransferase i/iii deficiency methionine_adenosyltransferase_i_iii_deficiency Methionine Adenosyltransferase I/iii Deficiency MAT1A glycogen storage disease xii glycogen_storage_disease_xii Glycogen Storage Disease Xii ALDOA stocco dos santos x-linked mental retardation syndrome stocco_dos_santos_x_linked_mental_retardation_syndrome Stocco Dos Santos X-Linked Mental Retardation Syndrome SHROOM4 portal hypertension, noncirrhotic portal_hypertension_noncirrhotic Portal Hypertension, Noncirrhotic DGUOK macular dystrophy, retinal, 2 macular_dystrophy_retinal_2 Macular Dystrophy, Retinal, 2 PROM1 mucopolysaccharidosis, type iiic mucopolysaccharidosis_type_iiic_2 Mucopolysaccharidosis, Type Iiic HGSNAT dentin dysplasia, type ii dentin_dysplasia_type_ii Dentin Dysplasia, Type Ii DSPP hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate hypothyroidism_thyroidal_or_athyroidal_with_spiky_hair_and_cleft_palate Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate FOXE1 DOID:0050655 microphthalmia with limb anomalies microphthalmia_with_limb_anomalies Microphthalmia with Limb Anomalies SMOC1 DOID:0060861 epidermolysis bullosa, junctional, non-herlitz type epidermolysis_bullosa_junctional_non_herlitz_type Epidermolysis Bullosa, Junctional, Non-Herlitz Type ITGB4 DOID:0060738 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss MYH9 autoinflammation, lipodystrophy, and dermatosis syndrome autoinflammation_lipodystrophy_and_dermatosis_syndrome Autoinflammation, Lipodystrophy, and Dermatosis Syndrome PSMB8 DOID:0050553 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency adrenal_hyperplasia_congenital_due_to_3_beta_hydroxysteroid_dehydrogenase_2_deficiency Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency HSD3B2 angioedema, hereditary, type iii angioedema_hereditary_type_iii Angioedema, Hereditary, Type Iii F12 arthrogryposis, distal, type 3 arthrogryposis_distal_type_3 Arthrogryposis, Distal, Type 3 PIEZO2 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive ceroid_lipofuscinosis_neuronal_4a_autosomal_recessive_2 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive CLN6 DOID:0110730 congenital disorder of glycosylation, type iu congenital_disorder_of_glycosylation_type_iu Congenital Disorder of Glycosylation, Type Iu DPM2 cutis laxa, autosomal recessive, type ib cutis_laxa_autosomal_recessive_type_ib Cutis Laxa, Autosomal Recessive, Type Ib EFEMP2 DOID:0070133 cutis laxa, autosomal recessive, type iiia cutis_laxa_autosomal_recessive_type_iiia Cutis Laxa, Autosomal Recessive, Type Iiia ALDH18A1 DOID:0070132 deafness, congenital, with inner ear agenesis, microtia, and microdontia deafness_congenital_with_inner_ear_agenesis_microtia_and_microdontia_2 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia FGF3 diabetes mellitus, insulin-resistant, with acanthosis nigricans diabetes_mellitus_insulin_resistant_with_acanthosis_nigricans Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans INSR epidermolysis bullosa simplex, localized epidermolysis_bullosa_simplex_localized Epidermolysis Bullosa Simplex, Localized KRT5 epidermolysis bullosa simplex, localized epidermolysis_bullosa_simplex_localized Epidermolysis Bullosa Simplex, Localized KRT14 erythermalgia, primary erythermalgia_primary Erythermalgia, Primary SCN9A exostoses, multiple, type i exostoses_multiple_type_i Exostoses, Multiple, Type I EXT1 hsd10 mitochondrial disease hsd10_mitochondrial_disease Hsd10 Mitochondrial Disease HSD17B10 hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic_hypoglycemia_familial_2_2 Hyperinsulinemic Hypoglycemia, Familial, 2 KCNJ11 hypomagnesemia 3, renal hypomagnesemia_3_renal Hypomagnesemia 3, Renal CLDN16 DOID:0060880 mitochondrial complex v deficiency, nuclear type 2 mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_2 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 DOID:0060331 mucopolysaccharidosis, type ivb mucopolysaccharidosis_type_ivb Mucopolysaccharidosis, Type Ivb GLB1 nail disorder, nonsyndromic congenital, 3 nail_disorder_nonsyndromic_congenital_3_2 Nail Disorder, Nonsyndromic Congenital, 3 PLCD1 DOID:0080081 opitz gbbb syndrome, type i opitz_gbbb_syndrome_type_i Opitz Gbbb Syndrome, Type I MID1 opitz gbbb syndrome, type ii opitz_gbbb_syndrome_type_ii Opitz Gbbb Syndrome, Type Ii SPECC1L persistent mullerian duct syndrome, types i and ii persistent_mullerian_duct_syndrome_types_i_and_ii Persistent Mullerian Duct Syndrome, Types I and Ii AMHR2 persistent mullerian duct syndrome, types i and ii persistent_mullerian_duct_syndrome_types_i_and_ii Persistent Mullerian Duct Syndrome, Types I and Ii AMH polyarteritis nodosa, childhood-onset polyarteritis_nodosa_childhood_onset Polyarteritis Nodosa, Childhood-Onset ADA2 simpson-golabi-behmel syndrome, type 1 simpson_golabi_behmel_syndrome_type_1_2 Simpson-Golabi-Behmel Syndrome, Type 1 GPC3 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_1_with_or_without_fractures Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity, type 2 spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_2 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 KIF22 thrombocytopenia, x-linked, with or without dyserythropoietic anemia thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia GATA1 breast cancer breast_cancer Breast Cancer BRCA2 DOID:3459 neurodegeneration with brain iron accumulation 5 neurodegeneration_with_brain_iron_accumulation_5 Neurodegeneration with Brain Iron Accumulation 5 WDR45 DOID:0110739 nevus, epidermal nevus_epidermal Nevus, Epidermal HRAS DOID:0111162 coffin-siris syndrome 1 coffin_siris_syndrome_1 Coffin-Siris Syndrome 1 ARID1B DOID:1925 cerebral cavernous malformations cerebral_cavernous_malformations Cerebral Cavernous Malformations KRIT1 DOID:0060669 blau syndrome blau_syndrome Blau Syndrome NOD2 DOID:0050678 hirschsprung disease 1 hirschsprung_disease_1 Hirschsprung Disease 1 RET DOID:10487 mohr-tranebjaerg syndrome mohr_tranebjaerg_syndrome Mohr-Tranebjaerg Syndrome TIMM8A DOID:0050867 dental anomalies and short stature dental_anomalies_and_short_stature Dental Anomalies and Short Stature LTBP3 DOID:0090143 retinoblastoma retinoblastoma Retinoblastoma RB1 DOID:768 alstrom syndrome alstrom_syndrome Alstrom Syndrome ALMS1 DOID:0050473 breast cancer breast_cancer Breast Cancer CHEK2 DOID:3459 tay-sachs disease tay_sachs_disease Tay-Sachs Disease HEXA DOID:3320 deafness, autosomal recessive 1a deafness_autosomal_recessive_1a Deafness, Autosomal Recessive 1a GJB2 DOID:0110475 pontocerebellar hypoplasia, type 5 pontocerebellar_hypoplasia_type_5_2 Pontocerebellar Hypoplasia, Type 5 TSEN54 DOID:0060274 huntington disease-like 2 huntington_disease_like_2 Huntington Disease-Like 2 JPH3 DOID:0090104 diastrophic dysplasia diastrophic_dysplasia Diastrophic Dysplasia SLC26A2 DOID:14687 supravalvular aortic stenosis supravalvular_aortic_stenosis Supravalvular Aortic Stenosis ELN DOID:1929 aceruloplasminemia aceruloplasminemia Aceruloplasminemia CP DOID:0050753 smith-magenis syndrome smith_magenis_syndrome Smith-Magenis Syndrome RAI1 DOID:0060768 breast cancer breast_cancer Breast Cancer PALB2 DOID:3459 rhabdoid tumor predisposition syndrome 1 rhabdoid_tumor_predisposition_syndrome_1 Rhabdoid Tumor Predisposition Syndrome 1 SMARCB1 nance-horan syndrome nance_horan_syndrome Nance-Horan Syndrome NHS DOID:0060599 huntington disease huntington_disease Huntington Disease HTT DOID:12858 meningioma, familial meningioma_familial Meningioma, Familial SMARCE1 DOID:4586 hypotrichosis and recurrent skin vesicles hypotrichosis_and_recurrent_skin_vesicles Hypotrichosis and Recurrent Skin Vesicles DSC3 insulin-like growth factor i insulin_like_growth_factor_i Insulin-Like Growth Factor I IGF1 nijmegen breakage syndrome nijmegen_breakage_syndrome Nijmegen Breakage Syndrome NBN DOID:7400 hermansky-pudlak syndrome 9 hermansky_pudlak_syndrome_9 Hermansky-Pudlak Syndrome 9 BLOC1S6 DOID:0060547 muscular dystrophy, limb-girdle, type 2r muscular_dystrophy_limb_girdle_type_2r Muscular Dystrophy, Limb-Girdle, Type 2r DES DOID:0110286 burkitt lymphoma burkitt_lymphoma Burkitt Lymphoma MYC DOID:8584 prostate cancer prostate_cancer Prostate Cancer PTEN DOID:10286 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia NF1 DOID:0050458 prostate cancer prostate_cancer Prostate Cancer CHEK2 DOID:10286 2,4-dienoyl-coa reductase deficiency 24_dienoyl_coa_reductase_deficiency 2,4-Dienoyl-Coa Reductase Deficiency NADK2 myelofibrosis myelofibrosis Myelofibrosis JAK2 DOID:4971 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy TYROBP DOID:0090112 alpha-1-antitrypsin deficiency alpha_1_antitrypsin_deficiency_2 Alpha-1-Antitrypsin Deficiency SERPINA1 DOID:13372 spastic paraplegia 63, autosomal recessive spastic_paraplegia_63_autosomal_recessive Spastic Paraplegia 63, Autosomal Recessive AMPD2 DOID:0110814 spastic paraplegia 61, autosomal recessive spastic_paraplegia_61_autosomal_recessive Spastic Paraplegia 61, Autosomal Recessive ARL6IP1 DOID:0110812 myotonic dystrophy 1 myotonic_dystrophy_1 Myotonic Dystrophy 1 DMPK DOID:11722 hyperlipoproteinemia, type iii hyperlipoproteinemia_type_iii_2 Hyperlipoproteinemia, Type Iii APOE DOID:3145 keutel syndrome keutel_syndrome Keutel Syndrome MGP oculopharyngeal muscular dystrophy oculopharyngeal_muscular_dystrophy Oculopharyngeal Muscular Dystrophy PABPN1 DOID:11719 parathyroid carcinoma parathyroid_carcinoma Parathyroid Carcinoma CDC73 DOID:1540 kbg syndrome kbg_syndrome Kbg Syndrome ANKRD11 DOID:14780 epidermodysplasia verruciformis epidermodysplasia_verruciformis Epidermodysplasia Verruciformis TMC6 DOID:13777 dentatorubral-pallidoluysian atrophy dentatorubral_pallidoluysian_atrophy Dentatorubral-Pallidoluysian Atrophy ATN1 DOID:0060162 epidermodysplasia verruciformis epidermodysplasia_verruciformis Epidermodysplasia Verruciformis TMC8 DOID:13777 spinal and bulbar muscular atrophy, x-linked 1 spinal_and_bulbar_muscular_atrophy_x_linked_1 Spinal and Bulbar Muscular Atrophy, X-Linked 1 AR DOID:0060161 thrombophilia due to activated protein c resistance thrombophilia_due_to_activated_protein_c_resistance Thrombophilia Due to Activated Protein C Resistance F5 spinocerebellar ataxia 7 spinocerebellar_ataxia_7 Spinocerebellar Ataxia 7 ATXN7 DOID:0050958 myopathy, congenital, compton-north myopathy_congenital_compton_north Myopathy, Congenital, Compton-North CNTN1 DOID:0080101 otofaciocervical syndrome 1 otofaciocervical_syndrome_1 Otofaciocervical Syndrome 1 EYA1 myopathy, centronuclear, 4 myopathy_centronuclear_4 Myopathy, Centronuclear, 4 CCDC78 myeloproliferative/lymphoproliferative neoplasms, familial myeloproliferative_lymphoproliferative_neoplasms_familial Myeloproliferative/lymphoproliferative Neoplasms, Familial DDX41 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia chondrodysplasia_with_platyspondyly_distinctive_brachydactyly_hydrocephaly_and_microphthalmia Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia HDAC6 spinocerebellar ataxia 1 spinocerebellar_ataxia_1 Spinocerebellar Ataxia 1 ATXN1 DOID:0050954 retinal dystrophy, juvenile cataracts, and short stature syndrome retinal_dystrophy_juvenile_cataracts_and_short_stature_syndrome Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome RDH11 spastic paraplegia 74, autosomal recessive spastic_paraplegia_74_autosomal_recessive Spastic Paraplegia 74, Autosomal Recessive IBA57 DOID:0110819 spinocerebellar ataxia 12 spinocerebellar_ataxia_12 Spinocerebellar Ataxia 12 PPP2R2B DOID:0050962 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract polyneuropathy_hearing_loss_ataxia_retinitis_pigmentosa_and_cataract Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract ABHD12 DOID:0080181 arthrogryposis, mental retardation, and seizures arthrogryposis_mental_retardation_and_seizures Arthrogryposis, Mental Retardation, and Seizures SLC35A3 dyskinesia, seizures, and intellectual developmental disorder dyskinesia_seizures_and_intellectual_developmental_disorder Dyskinesia, Seizures, and Intellectual Developmental Disorder DEAF1 mental retardation, autosomal recessive 37 mental_retardation_autosomal_recessive_37_2 Mental Retardation, Autosomal Recessive 37 ANK3 prune belly syndrome prune_belly_syndrome Prune Belly Syndrome CHRM3 DOID:0060889 spinocerebellar ataxia, autosomal recessive 15 spinocerebellar_ataxia_autosomal_recessive_15 Spinocerebellar Ataxia, Autosomal Recessive 15 RUBCN DOID:0080057 trichorhinophalangeal syndrome, type i trichorhinophalangeal_syndrome_type_i_2 Trichorhinophalangeal Syndrome, Type I TRPS1 DOID:14743 leukoencephalopathy with dystonia and motor neuropathy leukoencephalopathy_with_dystonia_and_motor_neuropathy Leukoencephalopathy with Dystonia and Motor Neuropathy SCP2 lamb-shaffer syndrome lamb_shaffer_syndrome Lamb-Shaffer Syndrome SOX5 parkinsonism with spasticity, x-linked parkinsonism_with_spasticity_x_linked Parkinsonism with Spasticity, X-Linked ATP6AP2 frontonasal dysplasia 3 frontonasal_dysplasia_3 Frontonasal Dysplasia 3 ALX1 lacrimal duct defect lacrimal_duct_defect Lacrimal Duct Defect IGSF3 pancreatitis, hereditary pancreatitis_hereditary Pancreatitis, Hereditary CTRC polyendocrine-polyneuropathy syndrome polyendocrine_polyneuropathy_syndrome Polyendocrine-Polyneuropathy Syndrome DMXL2 meckel syndrome 12 meckel_syndrome_12 Meckel Syndrome 12 KIF14 myosclerosis, autosomal recessive myosclerosis_autosomal_recessive Myosclerosis, Autosomal Recessive COL6A2 charcot-marie-tooth disease, axonal, type 2q charcot_marie_tooth_disease_axonal_type_2q Charcot-Marie-Tooth Disease, Axonal, Type 2q DHTKD1 DOID:0110170 diarrhea 7 diarrhea_7 Diarrhea 7 DGAT1 long qt syndrome 2 long_qt_syndrome_2 Long Qt Syndrome 2 KCNH2 DOID:0110645 nijmegen breakage syndrome-like disorder nijmegen_breakage_syndrome_like_disorder Nijmegen Breakage Syndrome-Like Disorder RAD50 microhydranencephaly microhydranencephaly Microhydranencephaly NDE1 retinitis pigmentosa 9 retinitis_pigmentosa_9 Retinitis Pigmentosa 9 RP9 DOID:0110387 pheochromocytoma pheochromocytoma Pheochromocytoma MAX ectodermal dysplasia/skin fragility syndrome ectodermal_dysplasia_skin_fragility_syndrome Ectodermal Dysplasia/skin Fragility Syndrome PKP1 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 DCTN1 DOID:332 camptodactyly-arthropathy-coxa vara-pericarditis syndrome camptodactyly_arthropathy_coxa_vara_pericarditis_syndrome Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome PRG4 DOID:0090127 marshall syndrome marshall_syndrome Marshall Syndrome COL11A1 bainbridge-ropers syndrome bainbridge_ropers_syndrome Bainbridge-Ropers Syndrome ASXL3 macular degeneration, age-related, 1 macular_degeneration_age_related_1 Macular Degeneration, Age-Related, 1 HMCN1 DOID:4448 spastic paraplegia 30, autosomal recessive spastic_paraplegia_30_autosomal_recessive Spastic Paraplegia 30, Autosomal Recessive KIF1A DOID:0110781 congenital disorder of deglycosylation congenital_disorder_of_deglycosylation Congenital Disorder of Deglycosylation NGLY1 DOID:0060728 tropical calcific pancreatitis tropical_calcific_pancreatitis Tropical Calcific Pancreatitis SPINK1 pontocerebellar hypoplasia, type 6 pontocerebellar_hypoplasia_type_6_2 Pontocerebellar Hypoplasia, Type 6 RARS2 DOID:0060275 metachromatic leukodystrophy metachromatic_leukodystrophy Metachromatic Leukodystrophy ARSA DOID:10581 netherton syndrome netherton_syndrome Netherton Syndrome SPINK5 DOID:0050769 breast cancer breast_cancer Breast Cancer PIK3CA DOID:3459 neuropathy, hereditary sensory and autonomic, type vi neuropathy_hereditary_sensory_and_autonomic_type_vi Neuropathy, Hereditary Sensory and Autonomic, Type Vi DST DOID:0070151 hemoglobin h disease hemoglobin_h_disease Hemoglobin H Disease HBA2 DOID:0110031 poikiloderma with neutropenia poikiloderma_with_neutropenia Poikiloderma with Neutropenia USB1 DOID:0060551 anemia, hypochromic microcytic, with iron overload 2 anemia_hypochromic_microcytic_with_iron_overload_2 Anemia, Hypochromic Microcytic, with Iron Overload 2 STEAP3 choanal atresia and lymphedema choanal_atresia_and_lymphedema Choanal Atresia and Lymphedema PTPN14 congenital disorder of glycosylation, type ii congenital_disorder_of_glycosylation_type_ii_2 Congenital Disorder of Glycosylation, Type Ii ALG2 DOID:0050571 retinal dystrophy and iris coloboma with or without congenital cataract retinal_dystrophy_and_iris_coloboma_with_or_without_congenital_cataract Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract MIR204 cardiomyopathy, dilated, with woolly hair and keratoderma cardiomyopathy_dilated_with_woolly_hair_and_keratoderma_2 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma DSP DOID:0090128 cardiomyopathy, dilated, 1j cardiomyopathy_dilated_1j Cardiomyopathy, Dilated, 1j EYA4 DOID:0110440 tetraamelia syndrome, autosomal recessive tetraamelia_syndrome_autosomal_recessive Tetraamelia Syndrome, Autosomal Recessive WNT3 spondyloepiphyseal dysplasia, kimberley type spondyloepiphyseal_dysplasia_kimberley_type Spondyloepiphyseal Dysplasia, Kimberley Type ACAN microphthalmia, syndromic 1 microphthalmia_syndromic_1 Microphthalmia, Syndromic 1 NAA10 pontocerebellar hypoplasia, type 3 pontocerebellar_hypoplasia_type_3_2 Pontocerebellar Hypoplasia, Type 3 PCLO DOID:0060272 hemochromatosis, type 5 hemochromatosis_type_5 Hemochromatosis, Type 5 FTH1 DOID:0111031 breast cancer breast_cancer Breast Cancer RAD51 DOID:3459 spinocerebellar ataxia 36 spinocerebellar_ataxia_36 Spinocerebellar Ataxia 36 NOP56 DOID:0050983 acromesomelic dysplasia, hunter-thompson type acromesomelic_dysplasia_hunter_thompson_type Acromesomelic Dysplasia, Hunter-Thompson Type GDF5 DOID:0080051 dermatofibrosarcoma protuberans dermatofibrosarcoma_protuberans Dermatofibrosarcoma Protuberans PDGFB DOID:3507 mast syndrome mast_syndrome Mast Syndrome SPG21 DOID:0060245 hypercholesterolemia, autosomal dominant, 3 hypercholesterolemia_autosomal_dominant_3 Hypercholesterolemia, Autosomal Dominant, 3 PCSK9 macular degeneration, age-related, 2 macular_degeneration_age_related_2 Macular Degeneration, Age-Related, 2 ABCA4 DOID:0110015 atrichia with papular lesions atrichia_with_papular_lesions Atrichia with Papular Lesions HR DOID:0060689 pheochromocytoma pheochromocytoma Pheochromocytoma TMEM127 bladder cancer bladder_cancer Bladder Cancer FGFR3 DOID:4007 inflammatory bowel disease 1 inflammatory_bowel_disease_1 Inflammatory Bowel Disease 1 NOD2 DOID:0110892 schaaf-yang syndrome schaaf_yang_syndrome Schaaf-Yang Syndrome MAGEL2 metachondromatosis metachondromatosis Metachondromatosis PTPN11 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent IRS1 DOID:9352 cardiomyopathy, dilated, 2a cardiomyopathy_dilated_2a Cardiomyopathy, Dilated, 2a TNNI3 DOID:0110460 glomuvenous malformations glomuvenous_malformations Glomuvenous Malformations GLMN naxos disease naxos_disease Naxos Disease JUP hypoparathyroidism-retardation-dysmorphism syndrome hypoparathyroidism_retardation_dysmorphism_syndrome Hypoparathyroidism-Retardation-Dysmorphism Syndrome TBCE DOID:0060348 holt-oram syndrome holt_oram_syndrome Holt-Oram Syndrome TBX5 DOID:0060468 marfan syndrome marfan_syndrome Marfan Syndrome FBN1 DOID:14323 reynolds syndrome reynolds_syndrome Reynolds Syndrome LBR osteopathia striata with cranial sclerosis osteopathia_striata_with_cranial_sclerosis Osteopathia Striata with Cranial Sclerosis AMER1 DOID:0060886 quebec platelet disorder quebec_platelet_disorder Quebec Platelet Disorder PLAU DOID:0111050 transcobalamin ii deficiency transcobalamin_ii_deficiency Transcobalamin Ii Deficiency TCN2 DOID:0050818 familial expansile osteolysis familial_expansile_osteolysis Familial Expansile Osteolysis TNFRSF11A agenesis of the corpus callosum with peripheral neuropathy agenesis_of_the_corpus_callosum_with_peripheral_neuropathy Agenesis of the Corpus Callosum with Peripheral Neuropathy SLC12A6 DOID:0090003 breast-ovarian cancer, familial 1 breast_ovarian_cancer_familial_1_2 Breast-Ovarian Cancer, Familial 1 BRCA1 enterokinase deficiency enterokinase_deficiency Enterokinase Deficiency TMPRSS15 epidermolysis bullosa simplex with pyloric atresia epidermolysis_bullosa_simplex_with_pyloric_atresia Epidermolysis Bullosa Simplex with Pyloric Atresia PLEC peters-plus syndrome peters_plus_syndrome_2 Peters-Plus Syndrome B3GLCT DOID:0080201 muscle hypertrophy muscle_hypertrophy Muscle Hypertrophy MSTN limb-mammary syndrome limb_mammary_syndrome Limb-Mammary Syndrome TP63 osteogenic sarcoma osteogenic_sarcoma Osteogenic Sarcoma TP53 DOID:3347 colorectal cancer colorectal_cancer Colorectal Cancer PIK3CA DOID:9256 liddle syndrome liddle_syndrome Liddle Syndrome SCNN1G DOID:0050477 alzheimer disease alzheimer_disease Alzheimer Disease APP DOID:10652 spinocerebellar ataxia 10 spinocerebellar_ataxia_10 Spinocerebellar Ataxia 10 ATXN10 DOID:0050960 schneckenbecken dysplasia schneckenbecken_dysplasia Schneckenbecken Dysplasia SLC35D1 DOID:0050775 spinocerebellar ataxia, autosomal recessive 8 spinocerebellar_ataxia_autosomal_recessive_8 Spinocerebellar Ataxia, Autosomal Recessive 8 SYNE1 dyskeratosis congenita, autosomal dominant 2 dyskeratosis_congenita_autosomal_dominant_2 Dyskeratosis Congenita, Autosomal Dominant 2 TERT DOID:0070021 rigidity and multifocal seizure syndrome, lethal neonatal rigidity_and_multifocal_seizure_syndrome_lethal_neonatal Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal BRAT1 3-methylglutaconic aciduria, type iii 3_methylglutaconic_aciduria_type_iii 3-Methylglutaconic Aciduria, Type Iii OPA3 DOID:5723 lymphangioleiomyomatosis lymphangioleiomyomatosis Lymphangioleiomyomatosis TSC1 DOID:3319 neuroblastoma 3 neuroblastoma_3 Neuroblastoma 3 ALK epileptic encephalopathy, early infantile, 23 epileptic_encephalopathy_early_infantile_23 Epileptic Encephalopathy, Early Infantile, 23 DOCK7 pseudopseudohypoparathyroidism pseudopseudohypoparathyroidism Pseudopseudohypoparathyroidism GNAS DOID:4183 hemolytic uremic syndrome, atypical 1 hemolytic_uremic_syndrome_atypical_1 Hemolytic Uremic Syndrome, Atypical 1 CFH DOID:0080301 breast-ovarian cancer, familial 3 breast_ovarian_cancer_familial_3 Breast-Ovarian Cancer, Familial 3 RAD51C rubinstein-taybi syndrome 2 rubinstein_taybi_syndrome_2 Rubinstein-Taybi Syndrome 2 EP300 helsmoortel-van der aa syndrome helsmoortel_van_der_aa_syndrome Helsmoortel-Van Der Aa Syndrome ADNP DOID:0070058 seizures, cortical blindness, and microcephaly syndrome seizures_cortical_blindness_and_microcephaly_syndrome Seizures, Cortical Blindness, and Microcephaly Syndrome DIAPH1 melanoma, cutaneous malignant 2 melanoma_cutaneous_malignant_2_2 Melanoma, Cutaneous Malignant 2 CDKN2A encephalopathy due to defective mitochondrial and peroxisomal fission 2 encephalopathy_due_to_defective_mitochondrial_and_peroxisomal_fission_2 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 MFF gaucher disease, perinatal lethal gaucher_disease_perinatal_lethal_2 Gaucher Disease, Perinatal Lethal GBA DOID:0110960 epilepsy, childhood absence 2 epilepsy_childhood_absence_2 Epilepsy, Childhood Absence 2 GABRG2 miyoshi muscular dystrophy 3 miyoshi_muscular_dystrophy_3 Miyoshi Muscular Dystrophy 3 ANO5 premature chromatid separation trait premature_chromatid_separation_trait Premature Chromatid Separation Trait BUB1B hydrops, lactic acidosis, and sideroblastic anemia hydrops_lactic_acidosis_and_sideroblastic_anemia Hydrops, Lactic Acidosis, and Sideroblastic Anemia LARS2 epilepsy, idiopathic generalized 12 epilepsy_idiopathic_generalized_12 Epilepsy, Idiopathic Generalized 12 SLC2A1 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MET DOID:916 inosine triphosphatase deficiency inosine_triphosphatase_deficiency Inosine Triphosphatase Deficiency ITPA pitt-hopkins-like syndrome 1 pitt_hopkins_like_syndrome_1 Pitt-Hopkins-Like Syndrome 1 CNTNAP2 DOID:0090130 short-rib thoracic dysplasia 5 with or without polydactyly short_rib_thoracic_dysplasia_5_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly WDR19 DOID:0110089 desanto-shinawi syndrome desanto_shinawi_syndrome Desanto-Shinawi Syndrome WAC heart-hand syndrome, slovenian type heart_hand_syndrome_slovenian_type Heart-Hand Syndrome, Slovenian Type LMNA encephalopathy, neonatal severe, due to mecp2 mutations encephalopathy_neonatal_severe_due_to_mecp2_mutations Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations MECP2 melanoma, cutaneous malignant 3 melanoma_cutaneous_malignant_3_2 Melanoma, Cutaneous Malignant 3 CDK4 lung cancer lung_cancer Lung Cancer BRAF DOID:3908 perrault syndrome 2 perrault_syndrome_2 Perrault Syndrome 2 HARS2 zttk syndrome zttk_syndrome Zttk Syndrome SON malignant hyperthermia 5 malignant_hyperthermia_5 Malignant Hyperthermia 5 CACNA1S floating-harbor syndrome floating_harbor_syndrome Floating-Harbor Syndrome SRCAP niemann-pick disease, type c1 niemann_pick_disease_type_c1_2 Niemann-Pick Disease, Type C1 NPC1 DOID:0070113 anauxetic dysplasia 1 anauxetic_dysplasia_1 Anauxetic Dysplasia 1 RMRP DOID:0050640 pyruvate dehydrogenase phosphatase deficiency pyruvate_dehydrogenase_phosphatase_deficiency Pyruvate Dehydrogenase Phosphatase Deficiency PDP1 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios_megalencephaly_and_symptomatic_epilepsy Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy STRADA parkes weber syndrome parkes_weber_syndrome Parkes Weber Syndrome RASA1 myopathy, myofibrillar, 5 myopathy_myofibrillar_5 Myopathy, Myofibrillar, 5 FLNC DOID:0080096 brachydactyly, type b1 brachydactyly_type_b1 Brachydactyly, Type B1 ROR2 DOID:0110969 congenital disorder of glycosylation, type ix congenital_disorder_of_glycosylation_type_ix Congenital Disorder of Glycosylation, Type Ix STT3B hypercholanemia, familial hypercholanemia_familial Hypercholanemia, Familial EPHX1 lipodystrophy, familial partial, type 5 lipodystrophy_familial_partial_type_5 Lipodystrophy, Familial Partial, Type 5 CIDEC muscular dystrophy-dystroglycanopathy , type c, 12 muscular_dystrophy_dystroglycanopathy_type_c_12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 POMK nevus, epidermal nevus_epidermal Nevus, Epidermal NRAS DOID:0111162 spinal muscular atrophy, distal, autosomal recessive, 2 spinal_muscular_atrophy_distal_autosomal_recessive_2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 SIGMAR1 DOID:0111065 buschke-ollendorff syndrome buschke_ollendorff_syndrome Buschke-Ollendorff Syndrome LEMD3 facial dysmorphism, immunodeficiency, livedo, and short stature facial_dysmorphism_immunodeficiency_livedo_and_short_stature Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature POLE hirschsprung disease, cardiac defects, and autonomic dysfunction hirschsprung_disease_cardiac_defects_and_autonomic_dysfunction Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction ECE1 chudley-mccullough syndrome chudley_mccullough_syndrome Chudley-Mccullough Syndrome GPSM2 poretti-boltshauser syndrome poretti_boltshauser_syndrome Poretti-Boltshauser Syndrome LAMA1 spondylocarpotarsal synostosis syndrome spondylocarpotarsal_synostosis_syndrome Spondylocarpotarsal Synostosis Syndrome FLNB DOID:0090116 corneal dystrophy, gelatinous drop-like corneal_dystrophy_gelatinous_drop_like Corneal Dystrophy, Gelatinous Drop-Like TACSTD2 DOID:0060449 cohen syndrome cohen_syndrome Cohen Syndrome VPS13B rapadilino syndrome rapadilino_syndrome Rapadilino Syndrome RECQL4 DOID:0050774 papilloma of choroid plexus papilloma_of_choroid_plexus Papilloma of Choroid Plexus TP53 DOID:2626 hermansky-pudlak syndrome 8 hermansky_pudlak_syndrome_8 Hermansky-Pudlak Syndrome 8 BLOC1S3 DOID:0060546 charcot-marie-tooth disease, type 4b2 charcot_marie_tooth_disease_type_4b2_2 Charcot-Marie-Tooth Disease, Type 4b2 SBF2 DOID:0110190 bare lymphocyte syndrome, type ii bare_lymphocyte_syndrome_type_ii Bare Lymphocyte Syndrome, Type Ii RFXAP DOID:5812 analbuminemia analbuminemia Analbuminemia ALB dystonia 3, torsion, x-linked dystonia_3_torsion_x_linked Dystonia 3, Torsion, X-Linked TAF1 DOID:0090057 spastic paraplegia 28, autosomal recessive spastic_paraplegia_28_autosomal_recessive Spastic Paraplegia 28, Autosomal Recessive DDHD1 DOID:0110779 muir-torre syndrome muir_torre_syndrome Muir-Torre Syndrome MSH2 DOID:0050465 5-oxoprolinase deficiency 5_oxoprolinase_deficiency 5-Oxoprolinase Deficiency OPLAH marinesco-sjogren syndrome marinesco_sjogren_syndrome Marinesco-Sjogren Syndrome SIL1 DOID:0080195 long qt syndrome 3 long_qt_syndrome_3 Long Qt Syndrome 3 SCN5A DOID:0110646 marshall-smith syndrome marshall_smith_syndrome Marshall-Smith Syndrome NFIX DOID:0050858 xeroderma pigmentosum, complementation group d xeroderma_pigmentosum_complementation_group_d Xeroderma Pigmentosum, Complementation Group D ERCC2 DOID:0110845 genitopatellar syndrome genitopatellar_syndrome Genitopatellar Syndrome KAT6B pancreatic lipase deficiency pancreatic_lipase_deficiency Pancreatic Lipase Deficiency PNLIP charcot-marie-tooth disease, type 4d charcot_marie_tooth_disease_type_4d Charcot-Marie-Tooth Disease, Type 4d NDRG1 DOID:0110186 muir-torre syndrome muir_torre_syndrome Muir-Torre Syndrome MLH1 DOID:0050465 hyperoxaluria, primary, type ii hyperoxaluria_primary_type_ii Hyperoxaluria, Primary, Type Ii GRHPR deafness, autosomal recessive 88 deafness_autosomal_recessive_88 Deafness, Autosomal Recessive 88 ELMOD3 DOID:0110533 spinocerebellar ataxia 11 spinocerebellar_ataxia_11 Spinocerebellar Ataxia 11 TTBK2 DOID:0050961 ovarian cancer ovarian_cancer Ovarian Cancer OPCML DOID:2394 whim syndrome whim_syndrome Whim Syndrome CXCR4 DOID:0060591 acatalasemia acatalasemia Acatalasemia CAT DOID:2582 adermatoglyphia adermatoglyphia Adermatoglyphia SMARCAD1 riddle syndrome riddle_syndrome Riddle Syndrome RNF168 DOID:0090113 phosphohydroxylysinuria phosphohydroxylysinuria Phosphohydroxylysinuria PHYKPL sitosterolemia sitosterolemia Sitosterolemia ABCG8 DOID:0090019 sitosterolemia sitosterolemia Sitosterolemia ABCG5 DOID:0090019 griscelli syndrome, type 1 griscelli_syndrome_type_1_2 Griscelli Syndrome, Type 1 MYO5A DOID:0060832 d-bifunctional protein deficiency d_bifunctional_protein_deficiency D-Bifunctional Protein Deficiency HSD17B4 DOID:0090031 leukocyte adhesion deficiency, type iii leukocyte_adhesion_deficiency_type_iii Leukocyte Adhesion Deficiency, Type Iii FERMT3 DOID:0110912 deafness, autosomal recessive 66 deafness_autosomal_recessive_66 Deafness, Autosomal Recessive 66 DCDC2 DOID:0110517 charcot-marie-tooth disease, axonal, type 2x charcot_marie_tooth_disease_axonal_type_2x_2 Charcot-Marie-Tooth Disease, Axonal, Type 2x SPG11 DOID:0110176 pettigrew syndrome pettigrew_syndrome Pettigrew Syndrome AP1S2 DOID:0060800 heinz body anemias heinz_body_anemias Heinz Body Anemias HBB stromme syndrome stromme_syndrome Stromme Syndrome CENPF DOID:0110595 muscular dystrophy, limb-girdle, type 2l muscular_dystrophy_limb_girdle_type_2l Muscular Dystrophy, Limb-Girdle, Type 2l ANO5 DOID:0110284 oculoauricular syndrome oculoauricular_syndrome Oculoauricular Syndrome HMX1 DOID:0060482 witteveen-kolk syndrome witteveen_kolk_syndrome Witteveen-Kolk Syndrome SIN3A hermansky-pudlak syndrome 7 hermansky_pudlak_syndrome_7 Hermansky-Pudlak Syndrome 7 DTNBP1 DOID:0060545 hyperbilirubinemia, rotor type hyperbilirubinemia_rotor_type Hyperbilirubinemia, Rotor Type SLCO1B1 albinism, ocular, with sensorineural deafness albinism_ocular_with_sensorineural_deafness Albinism, Ocular, with Sensorineural Deafness TYR salih myopathy salih_myopathy Salih Myopathy TTN diaphyseal medullary stenosis with malignant fibrous histiocytoma diaphyseal_medullary_stenosis_with_malignant_fibrous_histiocytoma Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma MTAP cerebrooculofacioskeletal syndrome 2 cerebrooculofacioskeletal_syndrome_2 Cerebrooculofacioskeletal Syndrome 2 ERCC2 thrombocytopenia-absent radius syndrome thrombocytopenia_absent_radius_syndrome Thrombocytopenia-Absent Radius Syndrome RBM8A DOID:14699 ovarian hyperstimulation syndrome ovarian_hyperstimulation_syndrome Ovarian Hyperstimulation Syndrome FSHR DOID:5425 prostate cancer prostate_cancer Prostate Cancer MXI1 DOID:10286 epidermolysis bullosa, lethal acantholytic epidermolysis_bullosa_lethal_acantholytic Epidermolysis Bullosa, Lethal Acantholytic DSP muscular dystrophy, limb-girdle, type 2j muscular_dystrophy_limb_girdle_type_2j Muscular Dystrophy, Limb-Girdle, Type 2j TTN DOID:0110283 tuberous sclerosis 2 tuberous_sclerosis_2 Tuberous Sclerosis 2 TSC2 cylindromatosis, familial cylindromatosis_familial Cylindromatosis, Familial CYLD stargardt disease 1 stargardt_disease_1_2 Stargardt Disease 1 ABCA4 bardet-biedl syndrome 2 bardet_biedl_syndrome_2 Bardet-Biedl Syndrome 2 BBS2 DOID:0110124 ovarian cancer ovarian_cancer Ovarian Cancer PIK3CA DOID:2394 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome cerebral_dysgenesis_neuropathy_ichthyosis_and_palmoplantar_keratoderma_syndrome Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome SNAP29 DOID:0060337 familial cold autoinflammatory syndrome 3 familial_cold_autoinflammatory_syndrome_3 Familial Cold Autoinflammatory Syndrome 3 PLCG2 DOID:0090064 malonyl-coa decarboxylase deficiency malonyl_coa_decarboxylase_deficiency Malonyl-Coa Decarboxylase Deficiency MLYCD restrictive dermopathy, lethal restrictive_dermopathy_lethal Restrictive Dermopathy, Lethal LMNA DOID:0060762 pyruvate dehydrogenase e3-binding protein deficiency pyruvate_dehydrogenase_e3_binding_protein_deficiency Pyruvate Dehydrogenase E3-Binding Protein Deficiency PDHX wiedemann-steiner syndrome wiedemann_steiner_syndrome Wiedemann-Steiner Syndrome KMT2A pseudohypoparathyroidism, type ib pseudohypoparathyroidism_type_ib_2 Pseudohypoparathyroidism, Type Ib STX16 DOID:0080222 transaldolase deficiency transaldolase_deficiency Transaldolase Deficiency TALDO1 epidermolysis bullosa simplex with migratory circinate erythema epidermolysis_bullosa_simplex_with_migratory_circinate_erythema Epidermolysis Bullosa Simplex with Migratory Circinate Erythema KRT5 trichodentoosseous syndrome trichodentoosseous_syndrome Trichodentoosseous Syndrome DLX3 methylmalonyl-coa epimerase deficiency methylmalonyl_coa_epimerase_deficiency Methylmalonyl-Coa Epimerase Deficiency MCEE hyperaldosteronism, familial, type i hyperaldosteronism_familial_type_i Hyperaldosteronism, Familial, Type I CYP11B1 DOID:14080 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 cerebellar_ataxia_mental_retardation_and_dysequilibrium_syndrome_1 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 VLDLR laryngoonychocutaneous syndrome laryngoonychocutaneous_syndrome Laryngoonychocutaneous Syndrome LAMA3 sudden infant death with dysgenesis of the testes syndrome sudden_infant_death_with_dysgenesis_of_the_testes_syndrome Sudden Infant Death with Dysgenesis of the Testes Syndrome TSPYL1 periventricular nodular heterotopia 6 periventricular_nodular_heterotopia_6 Periventricular Nodular Heterotopia 6 ERMARD spastic paraplegia 48, autosomal recessive spastic_paraplegia_48_autosomal_recessive Spastic Paraplegia 48, Autosomal Recessive AP5Z1 DOID:0110800 seborrhea-like dermatitis with psoriasiform elements seborrhea_like_dermatitis_with_psoriasiform_elements Seborrhea-Like Dermatitis with Psoriasiform Elements ZNF750 t-cell immunodeficiency, congenital alopecia, and nail dystrophy t_cell_immunodeficiency_congenital_alopecia_and_nail_dystrophy_2 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy FOXN1 DOID:0060769 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome mandibular_hypoplasia_deafness_progeroid_features_and_lipodystrophy_syndrome Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome POLD1 retinitis pigmentosa 1 retinitis_pigmentosa_1 Retinitis Pigmentosa 1 RP1 DOID:0110390 keratitis, hereditary keratitis_hereditary Keratitis, Hereditary PAX6 DOID:4677 spondylo-megaepiphyseal-metaphyseal dysplasia spondylo_megaepiphyseal_metaphyseal_dysplasia Spondylo-Megaepiphyseal-Metaphyseal Dysplasia NKX3-2 spastic paraplegia 49, autosomal recessive spastic_paraplegia_49_autosomal_recessive Spastic Paraplegia 49, Autosomal Recessive TECPR2 DOID:0110801 pyruvate dehydrogenase e2 deficiency pyruvate_dehydrogenase_e2_deficiency Pyruvate Dehydrogenase E2 Deficiency DLAT congenital cataracts, facial dysmorphism, and neuropathy congenital_cataracts_facial_dysmorphism_and_neuropathy Congenital Cataracts, Facial Dysmorphism, and Neuropathy CTDP1 spinocerebellar ataxia, autosomal recessive 22 spinocerebellar_ataxia_autosomal_recessive_22_2 Spinocerebellar Ataxia, Autosomal Recessive 22 VWA3B bone marrow failure syndrome 2 bone_marrow_failure_syndrome_2 Bone Marrow Failure Syndrome 2 ERCC6L2 plasminogen activator inhibitor-1 deficiency plasminogen_activator_inhibitor_1_deficiency Plasminogen Activator Inhibitor-1 Deficiency SERPINE1 prolonged electroretinal response suppression prolonged_electroretinal_response_suppression Prolonged Electroretinal Response Suppression RGS9BP DOID:0050335 myotonic dystrophy 2 myotonic_dystrophy_2 Myotonic Dystrophy 2 CNBP DOID:0050759 huntington disease-like 1 huntington_disease_like_1 Huntington Disease-Like 1 PRNP DOID:0090103 xia-gibbs syndrome xia_gibbs_syndrome Xia-Gibbs Syndrome AHDC1 DOID:0070055 allan-herndon-dudley syndrome allan_herndon_dudley_syndrome Allan-Herndon-Dudley Syndrome SLC16A2 DOID:0050631 spinocerebellar ataxia, autosomal recessive 20 spinocerebellar_ataxia_autosomal_recessive_20 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 DOID:0080066 fanconi anemia, complementation group c fanconi_anemia_complementation_group_c Fanconi Anemia, Complementation Group C FANCC DOID:0111087 mowat-wilson syndrome mowat_wilson_syndrome Mowat-Wilson Syndrome ZEB2 DOID:0060485 dermatopathia pigmentosa reticularis dermatopathia_pigmentosa_reticularis Dermatopathia Pigmentosa Reticularis KRT14 bardet-biedl syndrome 10 bardet_biedl_syndrome_10 Bardet-Biedl Syndrome 10 BBS10 DOID:0110132 wrinkly skin syndrome wrinkly_skin_syndrome Wrinkly Skin Syndrome ATP6V0A2 spastic paraplegia, optic atrophy, and neuropathy spastic_paraplegia_optic_atrophy_and_neuropathy Spastic Paraplegia, Optic Atrophy, and Neuropathy KLC2 DOID:0060491 colorectal cancer 12 colorectal_cancer_12 Colorectal Cancer 12 POLE meckel syndrome, type 7 meckel_syndrome_type_7 Meckel Syndrome, Type 7 NPHP3 DOID:0070121 spondyloperipheral dysplasia spondyloperipheral_dysplasia Spondyloperipheral Dysplasia COL2A1 l-ferritin deficiency l_ferritin_deficiency L-Ferritin Deficiency FTL microcephalic osteodysplastic primordial dwarfism, type i microcephalic_osteodysplastic_primordial_dwarfism_type_i Microcephalic Osteodysplastic Primordial Dwarfism, Type I RNU4ATAC DOID:0060608 omodysplasia 1 omodysplasia_1 Omodysplasia 1 GPC6 goldberg-shprintzen syndrome goldberg_shprintzen_syndrome Goldberg-Shprintzen Syndrome KIF1BP DOID:0060481 amyotrophic lateral sclerosis 16, juvenile amyotrophic_lateral_sclerosis_16_juvenile Amyotrophic Lateral Sclerosis 16, Juvenile SIGMAR1 DOID:0060207 terminal osseous dysplasia terminal_osseous_dysplasia Terminal Osseous Dysplasia FLNA tarp syndrome tarp_syndrome Tarp Syndrome RBM10 spastic paraplegia 45, autosomal recessive spastic_paraplegia_45_autosomal_recessive Spastic Paraplegia 45, Autosomal Recessive NT5C2 DOID:0110797 bardet-biedl syndrome 19 bardet_biedl_syndrome_19 Bardet-Biedl Syndrome 19 IFT27 DOID:0110141 spastic paraplegia 55, autosomal recessive spastic_paraplegia_55_autosomal_recessive Spastic Paraplegia 55, Autosomal Recessive C12orf65 DOID:0110807 ficolin 3 deficiency ficolin_3_deficiency Ficolin 3 Deficiency FCN3 achondrogenesis, type ia achondrogenesis_type_ia_2 Achondrogenesis, Type Ia TRIP11 DOID:0080054 bardet-biedl syndrome 12 bardet_biedl_syndrome_12 Bardet-Biedl Syndrome 12 BBS12 DOID:0110134 cousin syndrome cousin_syndrome Cousin Syndrome TBX15 bardet-biedl syndrome 11 bardet_biedl_syndrome_11 Bardet-Biedl Syndrome 11 TRIM32 DOID:0110133 scott syndrome scott_syndrome Scott Syndrome ANO6 DOID:0111052 macs syndrome macs_syndrome Macs Syndrome RIN2 DOID:2755 winchester syndrome winchester_syndrome Winchester Syndrome MMP14 hyperbiliverdinemia hyperbiliverdinemia Hyperbiliverdinemia BLVRA alazami syndrome alazami_syndrome Alazami Syndrome LARP7 glycosylphosphatidylinositol deficiency glycosylphosphatidylinositol_deficiency Glycosylphosphatidylinositol Deficiency PIGM deafness and myopia deafness_and_myopia Deafness and Myopia SLITRK6 immunodeficiency 17 immunodeficiency_17 Immunodeficiency 17 CD3G DOID:0060018 krabbe disease krabbe_disease Krabbe Disease GALC DOID:10587 pheochromocytoma pheochromocytoma Pheochromocytoma SDHB charge syndrome charge_syndrome Charge Syndrome CHD7 DOID:0050834 glycogen storage disease ii glycogen_storage_disease_ii Glycogen Storage Disease Ii GAA DOID:2752 fanconi anemia, complementation group i fanconi_anemia_complementation_group_i Fanconi Anemia, Complementation Group I FANCI DOID:0111091 adrenal hypoplasia, congenital adrenal_hypoplasia_congenital Adrenal Hypoplasia, Congenital NR0B1 DOID:0080156 achalasia-addisonianism-alacrima syndrome achalasia_addisonianism_alacrima_syndrome Achalasia-Addisonianism-Alacrima Syndrome AAAS DOID:0050602 neuropathy, hereditary motor and sensory, russe type neuropathy_hereditary_motor_and_sensory_russe_type Neuropathy, Hereditary Motor and Sensory, Russe Type HK1 DOID:0110196 xfe progeroid syndrome xfe_progeroid_syndrome Xfe Progeroid Syndrome ERCC4 DOID:0060590 leukodystrophy, hypomyelinating, 3 leukodystrophy_hypomyelinating_3_2 Leukodystrophy, Hypomyelinating, 3 AIMP1 DOID:0060790 corneal dystrophy, posterior polymorphous, 1 corneal_dystrophy_posterior_polymorphous_1 Corneal Dystrophy, Posterior Polymorphous, 1 OVOL2 DOID:0110855 niemann-pick disease, type c2 niemann_pick_disease_type_c2_2 Niemann-Pick Disease, Type C2 NPC2 DOID:0070114 witkop syndrome witkop_syndrome Witkop Syndrome MSX1 DOID:6678 acheiropody acheiropody Acheiropody LMBR1 DOID:0050603 ceroid lipofuscinosis, neuronal, 11 ceroid_lipofuscinosis_neuronal_11 Ceroid Lipofuscinosis, Neuronal, 11 GRN DOID:0110732 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial LDLR DOID:13810 cocoon syndrome cocoon_syndrome Cocoon Syndrome CHUK DOID:0060647 cone-rod dystrophy 2 cone_rod_dystrophy_2 Cone-Rod Dystrophy 2 CRX DOID:0111005 senior-loken syndrome 1 senior_loken_syndrome_1 Senior-Loken Syndrome 1 NPHP1 DOID:0050576 deafness, autosomal recessive 97 deafness_autosomal_recessive_97_2 Deafness, Autosomal Recessive 97 MET DOID:0110539 spinocerebellar ataxia 31 spinocerebellar_ataxia_31 Spinocerebellar Ataxia 31 BEAN1 DOID:0050980 right atrial isomerism right_atrial_isomerism Right Atrial Isomerism GDF1 DOID:0060856 lethal congenital contracture syndrome 2 lethal_congenital_contracture_syndrome_2 Lethal Congenital Contracture Syndrome 2 ERBB3 DOID:0060560 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFV1 DOID:0060536 xeroderma pigmentosum, complementation group a xeroderma_pigmentosum_complementation_group_a Xeroderma Pigmentosum, Complementation Group a XPA DOID:0110843 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma PIK3CA DOID:916 piebald trait piebald_trait Piebald Trait SNAI2 DOID:3263 saethre-chotzen syndrome saethre_chotzen_syndrome Saethre-Chotzen Syndrome TWIST1 DOID:14768 xeroderma pigmentosum, complementation group f xeroderma_pigmentosum_complementation_group_f Xeroderma Pigmentosum, Complementation Group F ERCC4 DOID:0110848 nephronophthisis 4 nephronophthisis_4 Nephronophthisis 4 NPHP4 DOID:0111115 pyle disease pyle_disease Pyle Disease SFRP4 DOID:0080019 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_positive_nk_cell_positive Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive PTPRC DOID:0090014 xeroderma pigmentosum, complementation group g xeroderma_pigmentosum_complementation_group_g Xeroderma Pigmentosum, Complementation Group G ERCC5 DOID:0110849 oligodontia-colorectal cancer syndrome oligodontia_colorectal_cancer_syndrome Oligodontia-Colorectal Cancer Syndrome AXIN2 epilepsy, familial temporal lobe, 7 epilepsy_familial_temporal_lobe_7 Epilepsy, Familial Temporal Lobe, 7 RELN DOID:0060751 muscular dystrophy, congenital, due to integrin alpha-7 deficiency muscular_dystrophy_congenital_due_to_integrin_alpha_7_deficiency Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency ITGA7 DOID:0110639 diabetes mellitus, neonatal, with congenital hypothyroidism diabetes_mellitus_neonatal_with_congenital_hypothyroidism Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism GLIS3 DOID:0060638 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 TERT epidermolysis bullosa simplex, autosomal recessive 2 epidermolysis_bullosa_simplex_autosomal_recessive_2 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 DST tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot NKX2-5 DOID:6419 cerebral amyloid angiopathy, itm2b-related, 1 cerebral_amyloid_angiopathy_itm2b_related_1 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 ITM2B DOID:0070029 cerebral amyloid angiopathy, itm2b-related, 2 cerebral_amyloid_angiopathy_itm2b_related_2 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 ITM2B DOID:0070030 epilepsy, x-linked, with variable learning disabilities and behavior disorders epilepsy_x_linked_with_variable_learning_disabilities_and_behavior_disorders Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders SYN1 paraganglioma and gastric stromal sarcoma paraganglioma_and_gastric_stromal_sarcoma Paraganglioma and Gastric Stromal Sarcoma SDHD bardet-biedl syndrome 3 bardet_biedl_syndrome_3 Bardet-Biedl Syndrome 3 ARL6 DOID:0110125 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 inclusion_body_myopathy_with_early_onset_paget_disease_with_or_without_frontotemporal_dementia_2 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 HNRNPA2B1 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads peeling_skin_with_leukonychia_acral_punctate_keratoses_cheilitis_and_knuckle_pads Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads CAST immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia immunodeficiency_x_linked_with_magnesium_defect_epstein_barr_virus_infection_and_neoplasia Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia MAGT1 mental retardation, x-linked 98 mental_retardation_x_linked_98 Mental Retardation, X-Linked 98 NEXMIF knobloch syndrome 1 knobloch_syndrome_1 Knobloch Syndrome 1 COL18A1 ehlers-danlos syndrome, dermatosparaxis type ehlers_danlos_syndrome_dermatosparaxis_type_3 Ehlers-Danlos Syndrome, Dermatosparaxis Type ADAMTS2 hepatic venoocclusive disease with immunodeficiency hepatic_venoocclusive_disease_with_immunodeficiency Hepatic Venoocclusive Disease with Immunodeficiency SP110 paraganglioma and gastric stromal sarcoma paraganglioma_and_gastric_stromal_sarcoma Paraganglioma and Gastric Stromal Sarcoma SDHB mental retardation and distinctive facial features with or without cardiac defects mental_retardation_and_distinctive_facial_features_with_or_without_cardiac_defects Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects MED13L inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 inclusion_body_myopathy_with_early_onset_paget_disease_with_or_without_frontotemporal_dementia_3 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 HNRNPA1 pseudohypoparathyroidism, type ib pseudohypoparathyroidism_type_ib_2 Pseudohypoparathyroidism, Type Ib GNAS DOID:0080222 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations t_cell_immunodeficiency_recurrent_infections_and_autoimmunity_with_or_without_cardiac_malformations T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations STK4 thrombophilia, x-linked, due to factor ix defect thrombophilia_x_linked_due_to_factor_ix_defect Thrombophilia, X-Linked, Due to Factor Ix Defect F9 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 SRY wilson-turner x-linked mental retardation syndrome wilson_turner_x_linked_mental_retardation_syndrome Wilson-Turner X-Linked Mental Retardation Syndrome LAS1L DOID:0060814 muscular dystrophy, limb-girdle, type 2g muscular_dystrophy_limb_girdle_type_2g Muscular Dystrophy, Limb-Girdle, Type 2g TCAP DOID:0110281 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_3 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 TK2 combined saposin deficiency combined_saposin_deficiency Combined Saposin Deficiency PSAP cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 cardioencephalomyopathy_fatal_infantile_due_to_cytochrome_c_oxidase_deficiency_3 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 COA5 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism klippel_feil_syndrome_4_autosomal_recessive_with_nemaline_myopathy_and_facial_dysmorphism Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism MYO18B leptin receptor deficiency leptin_receptor_deficiency Leptin Receptor Deficiency LEPR intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked intestinal_pseudoobstruction_neuronal_chronic_idiopathic_x_linked_2 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked FLNA familial cold autoinflammatory syndrome 2 familial_cold_autoinflammatory_syndrome_2 Familial Cold Autoinflammatory Syndrome 2 NLRP12 DOID:0090063 paget disease of bone 5, juvenile-onset paget_disease_of_bone_5_juvenile_onset Paget Disease of Bone 5, Juvenile-Onset TNFRSF11B short stature, idiopathic, x-linked short_stature_idiopathic_x_linked Short Stature, Idiopathic, X-Linked SHOX myopathy, x-linked, with excessive autophagy myopathy_x_linked_with_excessive_autophagy Myopathy, X-Linked, with Excessive Autophagy VMA21 DOID:0050760 hypertrophic neuropathy of dejerine-sottas hypertrophic_neuropathy_of_dejerine_sottas Hypertrophic Neuropathy of Dejerine-Sottas PRX DOID:0050540 retinitis pigmentosa 66 retinitis_pigmentosa_66 Retinitis Pigmentosa 66 RBP3 DOID:0110393 immunodeficiency 38 with basal ganglia calcification immunodeficiency_38_with_basal_ganglia_calcification Immunodeficiency 38 with Basal Ganglia Calcification ISG15 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige erythroderma_congenital_with_palmoplantar_keratoderma_hypotrichosis_and_hyper_ige_2 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige DSG1 lissencephaly 2 lissencephaly_2 Lissencephaly 2 RELN DOID:0060902 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency myasthenic_syndrome_congenital_3c_associated_with_acetylcholine_receptor_deficiency Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency CHRND DOID:0110664 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities short_stature_auditory_canal_atresia_mandibular_hypoplasia_and_skeletal_abnormalities Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities GSC coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation coloboma_ocular_with_or_without_hearing_impairment_cleft_lip_palate_and_or_mental_retardation Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation YAP1 spastic paraplegia and psychomotor retardation with or without seizures spastic_paraplegia_and_psychomotor_retardation_with_or_without_seizures Spastic Paraplegia and Psychomotor Retardation with or Without Seizures HACE1 arthrogryposis, perthes disease, and upward gaze palsy arthrogryposis_perthes_disease_and_upward_gaze_palsy Arthrogryposis, Perthes Disease, and Upward Gaze Palsy NEK9 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 SRGAP1 DOID:3962 beta-thalassemia, dominant inclusion body type beta_thalassemia_dominant_inclusion_body_type Beta-Thalassemia, Dominant Inclusion Body Type HBB atrial fibrillation, familial, 18 atrial_fibrillation_familial_18 Atrial Fibrillation, Familial, 18 MYL4 chondrosarcoma chondrosarcoma Chondrosarcoma EXT1 DOID:3371 diamond-blackfan anemia 14 with mandibulofacial dysostosis diamond_blackfan_anemia_14_with_mandibulofacial_dysostosis Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis TSR2 bone mineral density quantitative trait locus 18 bone_mineral_density_quantitative_trait_locus_18 Bone Mineral Density Quantitative Trait Locus 18 PLS3 coronary artery disease, autosomal dominant 2 coronary_artery_disease_autosomal_dominant_2_2 Coronary Artery Disease, Autosomal Dominant 2 LRP6 phosphoenolpyruvate carboxykinase deficiency, cytosolic phosphoenolpyruvate_carboxykinase_deficiency_cytosolic Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic PCK1 myasthenic syndrome, congenital, 3a, slow-channel myasthenic_syndrome_congenital_3a_slow_channel Myasthenic Syndrome, Congenital, 3a, Slow-Channel CHRND DOID:0110666 familial cold autoinflammatory syndrome 4 familial_cold_autoinflammatory_syndrome_4 Familial Cold Autoinflammatory Syndrome 4 NLRC4 DOID:0090065 keratosis linearis with ichthyosis congenita and sclerosing keratoderma keratosis_linearis_with_ichthyosis_congenita_and_sclerosing_keratoderma Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma POMP epidermolysis bullosa junctionalis with pyloric atresia epidermolysis_bullosa_junctionalis_with_pyloric_atresia Epidermolysis Bullosa Junctionalis with Pyloric Atresia ITGA6 DOID:0060733 naegeli-franceschetti-jadassohn syndrome naegeli_franceschetti_jadassohn_syndrome Naegeli-Franceschetti-Jadassohn Syndrome KRT14 palmoplantar keratoderma, nagashima type palmoplantar_keratoderma_nagashima_type Palmoplantar Keratoderma, Nagashima Type SERPINB7 muscular dystrophy, congenital, megaconial type muscular_dystrophy_congenital_megaconial_type Muscular Dystrophy, Congenital, Megaconial Type CHKB DOID:0110632 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema ectodermal_dysplasia_anhidrotic_with_immunodeficiency_osteopetrosis_and_lymphedema Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema IKBKG cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 cerebellar_ataxia_mental_retardation_and_dysequilibrium_syndrome_4 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 ATP8A2 mental retardation, x-linked, syndromic 34 mental_retardation_x_linked_syndromic_34 Mental Retardation, X-Linked, Syndromic 34 NONO DOID:0060817 birbeck granule deficiency birbeck_granule_deficiency Birbeck Granule Deficiency CD207 46,xy sex reversal 5 46xy_sex_reversal_5_2 46,xy Sex Reversal 5 CBX2 mental retardation, autosomal dominant 32 mental_retardation_autosomal_dominant_32 Mental Retardation, Autosomal Dominant 32 KAT6A DOID:0070062 spondylocostal dysostosis 5 spondylocostal_dysostosis_5 Spondylocostal Dysostosis 5 TBX6 ichthyosis hystrix, curth-macklin type ichthyosis_hystrix_curth_macklin_type_2 Ichthyosis Hystrix, Curth-Macklin Type KRT1 weill-marchesani syndrome 3 weill_marchesani_syndrome_3 Weill-Marchesani Syndrome 3 LTBP2 fanconi anemia, complementation group r fanconi_anemia_complementation_group_r_2 Fanconi Anemia, Complementation Group R RAD51 DOID:0111090 mental retardation, autosomal recessive 41 mental_retardation_autosomal_recessive_41 Mental Retardation, Autosomal Recessive 41 KPTN pigmentary disorder, reticulate, with systemic manifestations, x-linked pigmentary_disorder_reticulate_with_systemic_manifestations_x_linked Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked POLA1 craniofacial anomalies and anterior segment dysgenesis syndrome craniofacial_anomalies_and_anterior_segment_dysgenesis_syndrome Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome VSX1 white-sutton syndrome white_sutton_syndrome White-Sutton Syndrome POGZ DOID:0070067 3-methylglutaconic aciduria, type v 3_methylglutaconic_aciduria_type_v_2 3-Methylglutaconic Aciduria, Type V DNAJC19 DOID:0110000 cerebral palsy, spastic quadriplegic, 1 cerebral_palsy_spastic_quadriplegic_1 Cerebral Palsy, Spastic Quadriplegic, 1 GAD1 erythroderma, ichthyosiform, congenital reticular erythroderma_ichthyosiform_congenital_reticular Erythroderma, Ichthyosiform, Congenital Reticular KRT10 myasthenic syndrome, congenital, 15 myasthenic_syndrome_congenital_15 Myasthenic Syndrome, Congenital, 15 ALG14 DOID:0110658 bardet-biedl syndrome 4 bardet_biedl_syndrome_4 Bardet-Biedl Syndrome 4 BBS4 DOID:0110126 inflammatory skin and bowel disease, neonatal, 2 inflammatory_skin_and_bowel_disease_neonatal_2 Inflammatory Skin and Bowel Disease, Neonatal, 2 EGFR mental retardation, x-linked 101 mental_retardation_x_linked_101 Mental Retardation, X-Linked 101 MID2 spondyloepiphyseal dysplasia, maroteaux type spondyloepiphyseal_dysplasia_maroteaux_type_2 Spondyloepiphyseal Dysplasia, Maroteaux Type TRPV4 hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic_hypogonadism_13_with_or_without_anosmia Hypogonadotropic Hypogonadism 13 with or Without Anosmia KISS1 DOID:0090073 combined oxidative phosphorylation deficiency 7 combined_oxidative_phosphorylation_deficiency_7 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 epileptic encephalopathy, early infantile, 35 epileptic_encephalopathy_early_infantile_35 Epileptic Encephalopathy, Early Infantile, 35 ITPA peroxisome biogenesis disorder 10b peroxisome_biogenesis_disorder_10b Peroxisome Biogenesis Disorder 10b PEX3 prostate cancer, hereditary, 2 prostate_cancer_hereditary_2 Prostate Cancer, Hereditary, 2 ELAC2 sinoatrial node dysfunction and deafness sinoatrial_node_dysfunction_and_deafness Sinoatrial Node Dysfunction and Deafness CACNA1D familial adenomatous polyposis 4 familial_adenomatous_polyposis_4 Familial Adenomatous Polyposis 4 MSH3 vascular malformation, primary intraosseous vascular_malformation_primary_intraosseous Vascular Malformation, Primary Intraosseous ELMO2 cardiomyopathy, dilated, 2b cardiomyopathy_dilated_2b_2 Cardiomyopathy, Dilated, 2b GATAD1 DOID:0110441 combined oxidative phosphorylation deficiency 22 combined_oxidative_phosphorylation_deficiency_22 Combined Oxidative Phosphorylation Deficiency 22 ATP5F1A mental retardation, autosomal dominant 18 mental_retardation_autosomal_dominant_18 Mental Retardation, Autosomal Dominant 18 GATAD2B DOID:0070048 cholestasis, progressive familial intrahepatic, 5 cholestasis_progressive_familial_intrahepatic_5_2 Cholestasis, Progressive Familial Intrahepatic, 5 NR1H4 coenzyme q10 deficiency, primary, 5 coenzyme_q10_deficiency_primary_5 Coenzyme Q10 Deficiency, Primary, 5 COQ9 microphthalmia, isolated 5 microphthalmia_isolated_5 Microphthalmia, Isolated 5 MFRP DOID:0060837 testicular anomalies with or without congenital heart disease testicular_anomalies_with_or_without_congenital_heart_disease Testicular Anomalies with or Without Congenital Heart Disease GATA4 combined oxidative phosphorylation deficiency 18 combined_oxidative_phosphorylation_deficiency_18 Combined Oxidative Phosphorylation Deficiency 18 SFXN4 spinocerebellar ataxia, autosomal recessive 17 spinocerebellar_ataxia_autosomal_recessive_17 Spinocerebellar Ataxia, Autosomal Recessive 17 CWF19L1 DOID:0080064 mitochondrial dna depletion syndrome 14 mitochondrial_dna_depletion_syndrome_14 Mitochondrial Dna Depletion Syndrome 14 OPA1 moyamoya disease 6 with achalasia moyamoya_disease_6_with_achalasia Moyamoya Disease 6 with Achalasia GUCY1A1 hypercarotenemia and vitamin a deficiency, autosomal dominant hypercarotenemia_and_vitamin_a_deficiency_autosomal_dominant Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant BCO1 mitochondrial complex iii deficiency, nuclear type 9 mitochondrial_complex_iii_deficiency_nuclear_type_9 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 UQCC3 DOID:0080118 epileptic encephalopathy, early infantile, 40 epileptic_encephalopathy_early_infantile_40 Epileptic Encephalopathy, Early Infantile, 40 GUF1 spondylometaphyseal dysplasia, sedaghatian type spondylometaphyseal_dysplasia_sedaghatian_type_2 Spondylometaphyseal Dysplasia, Sedaghatian Type GPX4 fanconi anemia, complementation group v fanconi_anemia_complementation_group_v_2 Fanconi Anemia, Complementation Group V MAD2L2 DOID:0111080 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma mental_retardation_enteropathy_deafness_peripheral_neuropathy_ichthyosis_and_keratoderma Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma AP1S1 DOID:0060483 parkinson disease 17 parkinson_disease_17 Parkinson Disease 17 VPS35 DOID:0060897 spinocerebellar ataxia, autosomal recessive 24 spinocerebellar_ataxia_autosomal_recessive_24_2 Spinocerebellar Ataxia, Autosomal Recessive 24 UBA5 lethal congenital contracture syndrome 8 lethal_congenital_contracture_syndrome_8 Lethal Congenital Contracture Syndrome 8 ADCY6 nephrolithiasis, calcium oxalate nephrolithiasis_calcium_oxalate Nephrolithiasis, Calcium Oxalate SLC26A1 microphthalmia, syndromic 3 microphthalmia_syndromic_3_2 Microphthalmia, Syndromic 3 SOX2 premature ovarian failure 10 premature_ovarian_failure_10 Premature Ovarian Failure 10 MCM8 systemic lupus erythematosus 16 systemic_lupus_erythematosus_16 Systemic Lupus Erythematosus 16 DNASE1L3 nemaline myopathy 5 nemaline_myopathy_5 Nemaline Myopathy 5 TNNT1 DOID:0110936 amyloidosis, primary localized cutaneous, 2 amyloidosis_primary_localized_cutaneous_2 Amyloidosis, Primary Localized Cutaneous, 2 IL31RA cutis laxa, autosomal dominant 1 cutis_laxa_autosomal_dominant_1 Cutis Laxa, Autosomal Dominant 1 ELN DOID:0070142 bardet-biedl syndrome 5 bardet_biedl_syndrome_5 Bardet-Biedl Syndrome 5 BBS5 DOID:0110127 familial adenomatous polyposis 3 familial_adenomatous_polyposis_3 Familial Adenomatous Polyposis 3 NTHL1 medullary cystic kidney disease 1 medullary_cystic_kidney_disease_1 Medullary Cystic Kidney Disease 1 MUC1 microcephaly 16, primary, autosomal recessive microcephaly_16_primary_autosomal_recessive Microcephaly 16, Primary, Autosomal Recessive ANKLE2 meier-gorlin syndrome 8 meier_gorlin_syndrome_8 Meier-Gorlin Syndrome 8 MCM5 DOID:0080255 hemangioma, capillary infantile hemangioma_capillary_infantile Hemangioma, Capillary Infantile KDR striatal degeneration, autosomal dominant 1 striatal_degeneration_autosomal_dominant_1 Striatal Degeneration, Autosomal Dominant 1 PDE8B candidiasis, familial, 8 candidiasis_familial_8 Candidiasis, Familial, 8 TRAF3IP2 macular degeneration, age-related, 11 macular_degeneration_age_related_11 Macular Degeneration, Age-Related, 11 CST3 DOID:0110023 bohring-opitz syndrome bohring_opitz_syndrome Bohring-Opitz Syndrome ASXL1 spinocerebellar ataxia, autosomal recessive 23 spinocerebellar_ataxia_autosomal_recessive_23 Spinocerebellar Ataxia, Autosomal Recessive 23 TDP2 parietal foramina with cleidocranial dysplasia parietal_foramina_with_cleidocranial_dysplasia Parietal Foramina with Cleidocranial Dysplasia MSX2 atrial fibrillation, familial, 15 atrial_fibrillation_familial_15 Atrial Fibrillation, Familial, 15 NUP155 meier-gorlin syndrome 5 meier_gorlin_syndrome_5 Meier-Gorlin Syndrome 5 CDC6 ichthyosis, spastic quadriplegia, and mental retardation ichthyosis_spastic_quadriplegia_and_mental_retardation Ichthyosis, Spastic Quadriplegia, and Mental Retardation ELOVL4 kohlschutter-tonz syndrome kohlschutter_tonz_syndrome_2 Kohlschutter-Tonz Syndrome ROGDI lethal congenital contracture syndrome 6 lethal_congenital_contracture_syndrome_6 Lethal Congenital Contracture Syndrome 6 ZBTB42 macular degeneration, age-related, 6 macular_degeneration_age_related_6 Macular Degeneration, Age-Related, 6 RAX2 DOID:0110018 laurin-sandrow syndrome laurin_sandrow_syndrome Laurin-Sandrow Syndrome LMBR1 encephalopathy, progressive, with or without lipodystrophy encephalopathy_progressive_with_or_without_lipodystrophy Encephalopathy, Progressive, with or Without Lipodystrophy BSCL2 myasthenic syndrome, congenital, 18 myasthenic_syndrome_congenital_18 Myasthenic Syndrome, Congenital, 18 SNAP25 DOID:0110683 spinocerebellar ataxia, autosomal recessive 14 spinocerebellar_ataxia_autosomal_recessive_14 Spinocerebellar Ataxia, Autosomal Recessive 14 SPTBN2 DOID:0080058 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYAB DOID:0110250 fanconi renotubular syndrome 3 fanconi_renotubular_syndrome_3 Fanconi Renotubular Syndrome 3 EHHADH hypouricemia, renal, 2 hypouricemia_renal_2 Hypouricemia, Renal, 2 SLC2A9 schwannomatosis 2 schwannomatosis_2_2 Schwannomatosis 2 LZTR1 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 ST3GAL3 DOID:0050709 combined oxidative phosphorylation deficiency 2 combined_oxidative_phosphorylation_deficiency_2 Combined Oxidative Phosphorylation Deficiency 2 MRPS16 mental retardation, autosomal dominant 26 mental_retardation_autosomal_dominant_26 Mental Retardation, Autosomal Dominant 26 AUTS2 DOID:0070056 mental retardation, autosomal recessive 43 mental_retardation_autosomal_recessive_43 Mental Retardation, Autosomal Recessive 43 WASHC4 candidiasis, familial, 6 candidiasis_familial_6 Candidiasis, Familial, 6 IL17F frontonasal dysplasia 2 frontonasal_dysplasia_2 Frontonasal Dysplasia 2 ALX4 neutropenia, severe congenital, 2, autosomal dominant neutropenia_severe_congenital_2_autosomal_dominant_2 Neutropenia, Severe Congenital, 2, Autosomal Dominant GFI1 immunodeficiency, common variable, 10 immunodeficiency_common_variable_10 Immunodeficiency, Common Variable, 10 NFKB2 microcephaly 13, primary, autosomal recessive microcephaly_13_primary_autosomal_recessive Microcephaly 13, Primary, Autosomal Recessive CENPE ohdo syndrome, sbbys variant ohdo_syndrome_sbbys_variant Ohdo Syndrome, Sbbys Variant KAT6B DOID:0060290 nephronophthisis 9 nephronophthisis_9 Nephronophthisis 9 NEK8 DOID:0111120 mannosidosis, beta a, lysosomal mannosidosis_beta_a_lysosomal Mannosidosis, Beta a, Lysosomal MANBA DOID:3633 pseudo-torch syndrome 2 pseudo_torch_syndrome_2 Pseudo-Torch Syndrome 2 USP18 spasticity, childhood-onset, with hyperglycinemia spasticity_childhood_onset_with_hyperglycinemia Spasticity, Childhood-Onset, with Hyperglycinemia GLRX5 myopathy with extrapyramidal signs myopathy_with_extrapyramidal_signs Myopathy with Extrapyramidal Signs MICU1 immunodeficiency 11 immunodeficiency_11 Immunodeficiency 11 CARD11 congenital disorder of glycosylation, type iih congenital_disorder_of_glycosylation_type_iih Congenital Disorder of Glycosylation, Type Iih COG8 deafness, congenital, with onychodystrophy, autosomal dominant deafness_congenital_with_onychodystrophy_autosomal_dominant Deafness, Congenital, with Onychodystrophy, Autosomal Dominant ATP6V1B2 lethal congenital contracture syndrome 10 lethal_congenital_contracture_syndrome_10 Lethal Congenital Contracture Syndrome 10 NEK9 deafness, x-linked 6 deafness_x_linked_6 Deafness, X-Linked 6 COL4A6 deafness, autosomal dominant 68 deafness_autosomal_dominant_68_2 Deafness, Autosomal Dominant 68 HOMER2 DOID:0110589 alpha-fetoprotein deficiency alpha_fetoprotein_deficiency Alpha-Fetoprotein Deficiency AFP retinitis pigmentosa 55 retinitis_pigmentosa_55 Retinitis Pigmentosa 55 ARL6 DOID:0110370 acrofacial dysostosis 1, nager type acrofacial_dysostosis_1_nager_type Acrofacial Dysostosis 1, Nager Type SF3B4 DOID:5768 deafness, autosomal dominant 70 deafness_autosomal_dominant_70 Deafness, Autosomal Dominant 70 MCM2 DOID:0110592 cranioectodermal dysplasia 4 cranioectodermal_dysplasia_4 Cranioectodermal Dysplasia 4 WDR19 kenny-caffey syndrome, type 1 kenny_caffey_syndrome_type_1_2 Kenny-Caffey Syndrome, Type 1 TBCE optic atrophy 9 optic_atrophy_9 Optic Atrophy 9 ACO2 retinitis pigmentosa 59 retinitis_pigmentosa_59 Retinitis Pigmentosa 59 DHDDS DOID:0110352 ovarian dysgenesis 4 ovarian_dysgenesis_4 Ovarian Dysgenesis 4 MCM9 retinitis pigmentosa 58 retinitis_pigmentosa_58 Retinitis Pigmentosa 58 ZNF513 DOID:0110362 microcephaly 18, primary, autosomal dominant microcephaly_18_primary_autosomal_dominant Microcephaly 18, Primary, Autosomal Dominant WDFY3 microcephaly 14, primary, autosomal recessive microcephaly_14_primary_autosomal_recessive Microcephaly 14, Primary, Autosomal Recessive SASS6 spinocerebellar ataxia 43 spinocerebellar_ataxia_43 Spinocerebellar Ataxia 43 MME alpha-thalassemia myelodysplasia syndrome alpha_thalassemia_myelodysplasia_syndrome Alpha-Thalassemia Myelodysplasia Syndrome ATRX microcephaly 12, primary, autosomal recessive microcephaly_12_primary_autosomal_recessive Microcephaly 12, Primary, Autosomal Recessive CDK6 porokeratosis 1, multiple types porokeratosis_1_multiple_types Porokeratosis 1, Multiple Types PMVK fragile x tremor/ataxia syndrome fragile_x_tremor_ataxia_syndrome Fragile X Tremor/ataxia Syndrome FMR1 mental retardation, autosomal dominant 11 mental_retardation_autosomal_dominant_11 Mental Retardation, Autosomal Dominant 11 EPB41L1 DOID:0070041 fg syndrome 2 fg_syndrome_2 Fg Syndrome 2 FLNA hyperthyroxinemia, dystransthyretinemic hyperthyroxinemia_dystransthyretinemic Hyperthyroxinemia, Dystransthyretinemic TTR DOID:0080219 mental retardation, autosomal dominant 10 mental_retardation_autosomal_dominant_10 Mental Retardation, Autosomal Dominant 10 CACNG2 DOID:0070040 immunodeficiency 29 immunodeficiency_29 Immunodeficiency 29 IL12B immunodeficiency 39 immunodeficiency_39 Immunodeficiency 39 IRF7 immunodeficiency 27b immunodeficiency_27b Immunodeficiency 27b IFNGR1 immunodeficiency 15 immunodeficiency_15 Immunodeficiency 15 IKBKB hermansky-pudlak syndrome 3 hermansky_pudlak_syndrome_3 Hermansky-Pudlak Syndrome 3 HPS3 DOID:0060541 osteopetrosis, autosomal recessive 6 osteopetrosis_autosomal_recessive_6_2 Osteopetrosis, Autosomal Recessive 6 PLEKHM1 DOID:0110945 microphthalmia, syndromic 11 microphthalmia_syndromic_11_2 Microphthalmia, Syndromic 11 VAX1 myofibromatosis, infantile, 2 myofibromatosis_infantile_2_2 Myofibromatosis, Infantile, 2 NOTCH3 otofaciocervical syndrome 2 otofaciocervical_syndrome_2 Otofaciocervical Syndrome 2 PAX1 cataract 41 cataract_41 Cataract 41 WFS1 DOID:0110241 narcolepsy 7 narcolepsy_7 Narcolepsy 7 MOG schizophrenia 15 schizophrenia_15 Schizophrenia 15 SHANK3 DOID:0070091 lissencephaly 5 lissencephaly_5 Lissencephaly 5 LAMB1 optic atrophy 11 optic_atrophy_11 Optic Atrophy 11 YME1L1 aromatase excess syndrome aromatase_excess_syndrome Aromatase Excess Syndrome CYP19A1 DOID:0090122 lateral meningocele syndrome lateral_meningocele_syndrome Lateral Meningocele Syndrome NOTCH3 cataract 43 cataract_43 Cataract 43 UNC45B DOID:0110259 urofacial syndrome 1 urofacial_syndrome_1 Urofacial Syndrome 1 HPSE2 DOID:0050816 capillary malformations, congenital capillary_malformations_congenital Capillary Malformations, Congenital GNAQ dystonia 23 dystonia_23 Dystonia 23 CACNA1B DOID:0090051 hypotrichosis 13 hypotrichosis_13 Hypotrichosis 13 KRT71 DOID:0110710 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 UCP3 DOID:9970 pancreatic and cerebellar agenesis pancreatic_and_cerebellar_agenesis Pancreatic and Cerebellar Agenesis PTF1A narcolepsy 1 narcolepsy_1 Narcolepsy 1 HCRT roifman syndrome roifman_syndrome Roifman Syndrome RNU4ATAC frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 C9orf72 DOID:0060213 immunodeficiency 24 immunodeficiency_24 Immunodeficiency 24 CTPS1 deafness, autosomal recessive 4, with enlarged vestibular aqueduct deafness_autosomal_recessive_4_with_enlarged_vestibular_aqueduct Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 DOID:0110498 myelofibrosis myelofibrosis Myelofibrosis CALR DOID:4971 spastic paraplegia 23 spastic_paraplegia_23 Spastic Paraplegia 23 DSTYK DOID:0110774 edict syndrome edict_syndrome Edict Syndrome MIR184 hypotrichosis 3 hypotrichosis_3 Hypotrichosis 3 KRT74 DOID:0110700 mismatch repair cancer syndrome mismatch_repair_cancer_syndrome Mismatch Repair Cancer Syndrome MSH6 ivic syndrome ivic_syndrome Ivic Syndrome SALL4 central hypoventilation syndrome, congenital central_hypoventilation_syndrome_congenital Central Hypoventilation Syndrome, Congenital ASCL1 DOID:0060731 corneal dystrophy, congenital stromal corneal_dystrophy_congenital_stromal Corneal Dystrophy, Congenital Stromal DCN DOID:0060445 mental retardation, x-linked, syndromic, hedera type mental_retardation_x_linked_syndromic_hedera_type Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 DOID:0060806 aniridia 1 aniridia_1 Aniridia 1 PAX6 DOID:12271 breast cancer breast_cancer Breast Cancer BRIP1 DOID:3459 multiple endocrine neoplasia, type iv multiple_endocrine_neoplasia_type_iv Multiple Endocrine Neoplasia, Type Iv CDKN1B DOID:0080137 carnitine palmitoyltransferase ii deficiency, lethal neonatal carnitine_palmitoyltransferase_ii_deficiency_lethal_neonatal Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal CPT2 ehlers-danlos syndrome, kyphoscoliotic type, 2 ehlers_danlos_syndrome_kyphoscoliotic_type_2 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 FKBP14 charcot-marie-tooth disease, recessive intermediate d charcot_marie_tooth_disease_recessive_intermediate_d Charcot-Marie-Tooth Disease, Recessive Intermediate D COX6A1 DOID:0110203 amelogenesis imperfecta, type iv amelogenesis_imperfecta_type_iv Amelogenesis Imperfecta, Type Iv DLX3 DOID:0110053 carpal tunnel syndrome carpal_tunnel_syndrome Carpal Tunnel Syndrome TTR DOID:12169 cockayne syndrome b cockayne_syndrome_b Cockayne Syndrome B ERCC6 pheochromocytoma pheochromocytoma Pheochromocytoma RET deafness, autosomal dominant 36 deafness_autosomal_dominant_36 Deafness, Autosomal Dominant 36 TMC1 DOID:0110563 sea-blue histiocyte disease sea_blue_histiocyte_disease Sea-Blue Histiocyte Disease APOE DOID:4423 phelan-mcdermid syndrome phelan_mcdermid_syndrome Phelan-Mcdermid Syndrome SHANK3 trichothiodystrophy 1, photosensitive trichothiodystrophy_1_photosensitive Trichothiodystrophy 1, Photosensitive ERCC2 DOID:2960 rhizomelic chondrodysplasia punctata, type 5 rhizomelic_chondrodysplasia_punctata_type_5_2 Rhizomelic Chondrodysplasia Punctata, Type 5 PEX5 DOID:0110854 deafness, autosomal recessive 2 deafness_autosomal_recessive_2 Deafness, Autosomal Recessive 2 MYO7A DOID:0110477 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma AXIN1 DOID:916 deafness, autosomal dominant 11 deafness_autosomal_dominant_11 Deafness, Autosomal Dominant 11 MYO7A DOID:0110543 doyne honeycomb retinal dystrophy doyne_honeycomb_retinal_dystrophy Doyne Honeycomb Retinal Dystrophy EFEMP1 DOID:0060745 microcephaly, seizures, and developmental delay microcephaly_seizures_and_developmental_delay Microcephaly, Seizures, and Developmental Delay PNKP ras-associated autoimmune leukoproliferative disorder ras_associated_autoimmune_leukoproliferative_disorder Ras-Associated Autoimmune Leukoproliferative Disorder KRAS DOID:0110117 mismatch repair cancer syndrome mismatch_repair_cancer_syndrome Mismatch Repair Cancer Syndrome MSH2 joubert syndrome 2 joubert_syndrome_2 Joubert Syndrome 2 TMEM216 DOID:0110988 wolff-parkinson-white syndrome wolff_parkinson_white_syndrome Wolff-Parkinson-White Syndrome PRKAG2 DOID:384 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NUBPL DOID:0060536 deafness, autosomal recessive 23 deafness_autosomal_recessive_23 Deafness, Autosomal Recessive 23 PCDH15 DOID:0110481 usher syndrome, type iia usher_syndrome_type_iia Usher Syndrome, Type Iia USH2A DOID:0110838 citrullinemia, type ii, adult-onset citrullinemia_type_ii_adult_onset Citrullinemia, Type Ii, Adult-Onset SLC25A13 frontotemporal dementia frontotemporal_dementia Frontotemporal Dementia MAPT DOID:9255 achromatopsia 2 achromatopsia_2 Achromatopsia 2 CNGA3 DOID:0110007 retinitis pigmentosa 33 retinitis_pigmentosa_33 Retinitis Pigmentosa 33 SNRNP200 DOID:0110366 achromatopsia 3 achromatopsia_3 Achromatopsia 3 CNGB3 DOID:0110008 cardiomyopathy, dilated, 1a cardiomyopathy_dilated_1a Cardiomyopathy, Dilated, 1a LMNA DOID:0110425 parkinson disease 8, autosomal dominant parkinson_disease_8_autosomal_dominant Parkinson Disease 8, Autosomal Dominant LRRK2 DOID:0060371 osteomyelitis, sterile multifocal, with periostitis and pustulosis osteomyelitis_sterile_multifocal_with_periostitis_and_pustulosis Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis IL1RN hypoalphalipoproteinemia, primary hypoalphalipoproteinemia_primary Hypoalphalipoproteinemia, Primary APOA1 roussy-levy hereditary areflexic dystasia roussy_levy_hereditary_areflexic_dystasia Roussy-Levy Hereditary Areflexic Dystasia PMP22 glycogen storage disease 0, muscle glycogen_storage_disease_0_muscle Glycogen Storage Disease 0, Muscle GYS1 hyperlysinemia, type i hyperlysinemia_type_i Hyperlysinemia, Type I AASS DOID:9274 complement component 9 deficiency complement_component_9_deficiency Complement Component 9 Deficiency C9 DOID:0060303 cardiomyopathy, dilated, 1g cardiomyopathy_dilated_1g Cardiomyopathy, Dilated, 1g TTN DOID:0110430 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance mental_retardation_x_linked_with_cerebellar_hypoplasia_and_distinctive_facial_appearance_2 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance OPHN1 stapes ankylosis with broad thumbs and toes stapes_ankylosis_with_broad_thumbs_and_toes Stapes Ankylosis with Broad Thumbs and Toes NOG muscular dystrophy, limb-girdle, type 2w muscular_dystrophy_limb_girdle_type_2w Muscular Dystrophy, Limb-Girdle, Type 2w LIMS2 DOID:0110288 cyclic neutropenia cyclic_neutropenia Cyclic Neutropenia ELANE DOID:5339 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii granulomatous_disease_chronic_autosomal_recessive_cytochrome_b_positive_type_iii Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii NCF4 mental retardation, x-linked 99, syndromic, female-restricted mental_retardation_x_linked_99_syndromic_female_restricted Mental Retardation, X-Linked 99, Syndromic, Female-Restricted USP9X myopathy, distal, with anterior tibial onset myopathy_distal_with_anterior_tibial_onset Myopathy, Distal, with Anterior Tibial Onset DYSF leukodystrophy, demyelinating, adult-onset, autosomal dominant leukodystrophy_demyelinating_adult_onset_autosomal_dominant Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant LMNB1 DOID:0060785 fanconi anemia, complementation group j fanconi_anemia_complementation_group_j Fanconi Anemia, Complementation Group J BRIP1 DOID:0111097 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly multinucleated_neurons_anhydramnios_renal_dysplasia_cerebellar_hypoplasia_and_hydranencephaly Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly CEP55 fetal hemoglobin quantitative trait locus 1 fetal_hemoglobin_quantitative_trait_locus_1 Fetal Hemoglobin Quantitative Trait Locus 1 HBG1 xeroderma pigmentosum, complementation group c xeroderma_pigmentosum_complementation_group_c Xeroderma Pigmentosum, Complementation Group C XPC DOID:0110844 fetal hemoglobin quantitative trait locus 1 fetal_hemoglobin_quantitative_trait_locus_1 Fetal Hemoglobin Quantitative Trait Locus 1 HBB ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ichthyosis_leukocyte_vacuoles_alopecia_and_sclerosing_cholangitis Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis CLDN1 polydactyly, preaxial ii polydactyly_preaxial_ii Polydactyly, Preaxial Ii LMBR1 cavitary optic disc anomalies cavitary_optic_disc_anomalies Cavitary Optic Disc Anomalies MMP19 charcot-marie-tooth disease, type 4k charcot_marie_tooth_disease_type_4k_2 Charcot-Marie-Tooth Disease, Type 4k SURF1 DOID:0110187 protoporphyria, erythropoietic, x-linked protoporphyria_erythropoietic_x_linked Protoporphyria, Erythropoietic, X-Linked ALAS2 hermansky-pudlak syndrome 5 hermansky_pudlak_syndrome_5 Hermansky-Pudlak Syndrome 5 HPS5 DOID:0060543 nephropathy with pretibial epidermolysis bullosa and deafness nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness Nephropathy with Pretibial Epidermolysis Bullosa and Deafness CD151 histidinemia histidinemia Histidinemia HAL DOID:0060168 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked palmoplantar_keratoderma_mutilating_with_periorificial_keratotic_plaques_x_linked Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked MBTPS2 immunodeficiency due to defect in mapbp-interacting protein immunodeficiency_due_to_defect_in_mapbp_interacting_protein Immunodeficiency Due to Defect in Mapbp-Interacting Protein LAMTOR2 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot GATA6 DOID:6419 cortical dysplasia, complex, with other brain malformations 8 cortical_dysplasia_complex_with_other_brain_malformations_8 Cortical Dysplasia, Complex, with Other Brain Malformations 8 TUBA8 retinitis pigmentosa 3 retinitis_pigmentosa_3 Retinitis Pigmentosa 3 RPGR DOID:0110414 optic atrophy 7 with or without auditory neuropathy optic_atrophy_7_with_or_without_auditory_neuropathy Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A albinism, oculocutaneous, type vii albinism_oculocutaneous_type_vii Albinism, Oculocutaneous, Type Vii LRMDA DOID:0070100 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 46xy_gonadal_dysgenesis_partial_with_minifascicular_neuropathy 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy DHH salt and pepper developmental regression syndrome salt_and_pepper_developmental_regression_syndrome Salt and Pepper Developmental Regression Syndrome ST3GAL5 maturity-onset diabetes of the young, type 14 maturity_onset_diabetes_of_the_young_type_14 Maturity-Onset Diabetes of the Young, Type 14 APPL1 DOID:0111111 cerebellar ataxia, nonprogressive, with mental retardation cerebellar_ataxia_nonprogressive_with_mental_retardation Cerebellar Ataxia, Nonprogressive, with Mental Retardation CAMTA1 DOID:0050998 cholestasis, progressive familial intrahepatic, 4 cholestasis_progressive_familial_intrahepatic_4_2 Cholestasis, Progressive Familial Intrahepatic, 4 TJP2 cerebral cavernous malformations 2 cerebral_cavernous_malformations_2_2 Cerebral Cavernous Malformations 2 CCM2 DOID:0060670 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to glutathione_synthetase_deficiency_of_erythrocytes_hemolytic_anemia_due_to Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to GSS ritscher-schinzel syndrome 1 ritscher_schinzel_syndrome_1 Ritscher-Schinzel Syndrome 1 WASHC5 DOID:0060571 desmoid disease, hereditary desmoid_disease_hereditary Desmoid Disease, Hereditary APC athabaskan brainstem dysgenesis syndrome athabaskan_brainstem_dysgenesis_syndrome Athabaskan Brainstem Dysgenesis Syndrome HOXA1 DOID:0050682 tibia, hypoplasia or aplasia of, with polydactyly tibia_hypoplasia_or_aplasia_of_with_polydactyly Tibia, Hypoplasia or Aplasia of, with Polydactyly LMBR1 hyperbilirubinemia, rotor type hyperbilirubinemia_rotor_type Hyperbilirubinemia, Rotor Type SLCO1B3 charcot-marie-tooth disease, axonal, type 2l charcot_marie_tooth_disease_axonal_type_2l Charcot-Marie-Tooth Disease, Axonal, Type 2l HSPB8 DOID:0110174 bile acid synthesis defect, congenital, 3 bile_acid_synthesis_defect_congenital_3 Bile Acid Synthesis Defect, Congenital, 3 CYP7B1 DOID:0111070 pseudohypoaldosteronism, type i, autosomal recessive pseudohypoaldosteronism_type_i_autosomal_recessive Pseudohypoaldosteronism, Type I, Autosomal Recessive SCNN1G DOID:0060854 neutropenia, nonimmune chronic idiopathic, of adults neutropenia_nonimmune_chronic_idiopathic_of_adults Neutropenia, Nonimmune Chronic Idiopathic, of Adults GFI1 methylmalonic aciduria and homocystinuria, cblf type methylmalonic_aciduria_and_homocystinuria_cblf_type Methylmalonic Aciduria and Homocystinuria, Cblf Type LMBRD1 DOID:0050717 spastic ataxia 1, autosomal dominant spastic_ataxia_1_autosomal_dominant Spastic Ataxia 1, Autosomal Dominant VAMP1 pontocerebellar hypoplasia, type 2c pontocerebellar_hypoplasia_type_2c_2 Pontocerebellar Hypoplasia, Type 2c TSEN34 DOID:0060269 spastic ataxia 3, autosomal recessive spastic_ataxia_3_autosomal_recessive Spastic Ataxia 3, Autosomal Recessive MARS2 dentin dysplasia, type i dentin_dysplasia_type_i Dentin Dysplasia, Type I SMOC2 palmoplantar keratoderma, nonepidermolytic, focal 2 palmoplantar_keratoderma_nonepidermolytic_focal_2 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 TRPV3 myopathy with lactic acidosis, hereditary myopathy_with_lactic_acidosis_hereditary Myopathy with Lactic Acidosis, Hereditary ISCU pontocerebellar hypoplasia, type 8 pontocerebellar_hypoplasia_type_8_2 Pontocerebellar Hypoplasia, Type 8 CHMP1A DOID:0060277 exudative vitreoretinopathy 6 exudative_vitreoretinopathy_6 Exudative Vitreoretinopathy 6 ZNF408 congenital disorder of glycosylation, type iaa congenital_disorder_of_glycosylation_type_iaa Congenital Disorder of Glycosylation, Type Iaa NUS1 congenital disorder of glycosylation, type iif congenital_disorder_of_glycosylation_type_iif Congenital Disorder of Glycosylation, Type Iif SLC35A1 bardet-biedl syndrome 7 bardet_biedl_syndrome_7 Bardet-Biedl Syndrome 7 BBS7 DOID:0110129 failure of tooth eruption, primary failure_of_tooth_eruption_primary Failure of Tooth Eruption, Primary PTH1R weyers acrofacial dysostosis weyers_acrofacial_dysostosis Weyers Acrofacial Dysostosis EVC2 cataract 47 cataract_47 Cataract 47 SLC16A12 immunodeficiency 35 immunodeficiency_35 Immunodeficiency 35 TYK2 brachydactyly, type a2 brachydactyly_type_a2_2 Brachydactyly, Type A2 BMP2 DOID:0110965 nephrotic syndrome, type 13 nephrotic_syndrome_type_13_2 Nephrotic Syndrome, Type 13 NUP205 nephronophthisis 1 nephronophthisis_1 Nephronophthisis 1 NPHP1 DOID:0111112 basal cell nevus syndrome basal_cell_nevus_syndrome Basal Cell Nevus Syndrome SUFU DOID:2512 syndactyly, type iv syndactyly_type_iv Syndactyly, Type Iv LMBR1 congenital disorder of glycosylation, type iid congenital_disorder_of_glycosylation_type_iid Congenital Disorder of Glycosylation, Type Iid B4GALT1 basal cell nevus syndrome basal_cell_nevus_syndrome Basal Cell Nevus Syndrome PTCH2 DOID:2512 boomerang dysplasia boomerang_dysplasia Boomerang Dysplasia FLNB DOID:0050680 citrullinemia, classic citrullinemia_classic Citrullinemia, Classic ASS1 DOID:9273 brown-vialetto-van laere syndrome 2 brown_vialetto_van_laere_syndrome_2 Brown-Vialetto-Van Laere Syndrome 2 SLC52A2 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFB3 DOID:0060536 cardiomyopathy, dilated, 1d cardiomyopathy_dilated_1d Cardiomyopathy, Dilated, 1d TNNT2 DOID:0110426 mitochondrial short-chain enoyl-coa hydratase 1 deficiency mitochondrial_short_chain_enoyl_coa_hydratase_1_deficiency Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 digeorge syndrome digeorge_syndrome Digeorge Syndrome TBX1 DOID:11198 spinocerebellar ataxia 15 spinocerebellar_ataxia_15 Spinocerebellar Ataxia 15 ITPR1 DOID:0050965 maturity-onset diabetes of the young, type 3 maturity_onset_diabetes_of_the_young_type_3 Maturity-Onset Diabetes of the Young, Type 3 HNF1A DOID:0111102 deafness, autosomal recessive 3 deafness_autosomal_recessive_3 Deafness, Autosomal Recessive 3 MYO15A restrictive dermopathy, lethal restrictive_dermopathy_lethal Restrictive Dermopathy, Lethal ZMPSTE24 DOID:0060762 mannosidosis, alpha b, lysosomal mannosidosis_alpha_b_lysosomal Mannosidosis, Alpha B, Lysosomal MAN2B1 DOID:3413 multiple acyl-coa dehydrogenase deficiency multiple_acyl_coa_dehydrogenase_deficiency Multiple Acyl-Coa Dehydrogenase Deficiency ETFDH DOID:0060358 acromicric dysplasia acromicric_dysplasia Acromicric Dysplasia FBN1 baraitser-winter syndrome 1 baraitser_winter_syndrome_1 Baraitser-Winter Syndrome 1 ACTB ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy ventricular_tachycardia_catecholaminergic_polymorphic_1_with_or_without_atrial_dysfunction_and_or_dilated_cardiomyopathy Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy RYR2 DOID:0060675 arrhythmogenic right ventricular dysplasia, familial, 10 arrhythmogenic_right_ventricular_dysplasia_familial_10 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 DSG2 DOID:0110081 aicardi-goutieres syndrome 1 aicardi_goutieres_syndrome_1 Aicardi-Goutieres Syndrome 1 TREX1 retinitis pigmentosa 4 retinitis_pigmentosa_4 Retinitis Pigmentosa 4 RHO DOID:0110372 coumarin resistance coumarin_resistance Coumarin Resistance VKORC1 hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic_hypogonadism_20_with_or_without_anosmia Hypogonadotropic Hypogonadism 20 with or Without Anosmia FGF17 DOID:0090082 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency FOXRED1 DOID:0060536 aicardi-goutieres syndrome 2 aicardi_goutieres_syndrome_2 Aicardi-Goutieres Syndrome 2 RNASEH2B palmoplantar keratoderma, epidermolytic palmoplantar_keratoderma_epidermolytic Palmoplantar Keratoderma, Epidermolytic KRT9 DOID:0080223 sick sinus syndrome 2 sick_sinus_syndrome_2 Sick Sinus Syndrome 2 HCN4 usher syndrome, type if usher_syndrome_type_if Usher Syndrome, Type if PCDH15 DOID:0110832 meckel syndrome, type 3 meckel_syndrome_type_3_2 Meckel Syndrome, Type 3 TMEM67 DOID:0070117 spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations CHST3 DOID:0050813 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFS4 DOID:3652 ovarian dysgenesis 1 ovarian_dysgenesis_1 Ovarian Dysgenesis 1 FSHR adams-oliver syndrome 4 adams_oliver_syndrome_4 Adams-Oliver Syndrome 4 EOGT glycine encephalopathy glycine_encephalopathy Glycine Encephalopathy GLDC DOID:9268 spinal muscular atrophy, type iv spinal_muscular_atrophy_type_iv Spinal Muscular Atrophy, Type Iv SMN1 DOID:0050529 lethal congenital contracture syndrome 11 lethal_congenital_contracture_syndrome_11 Lethal Congenital Contracture Syndrome 11 GLDN kaufman oculocerebrofacial syndrome kaufman_oculocerebrofacial_syndrome Kaufman Oculocerebrofacial Syndrome UBE3B neurodegeneration with brain iron accumulation 1 neurodegeneration_with_brain_iron_accumulation_1 Neurodegeneration with Brain Iron Accumulation 1 PANK2 DOID:3981 noonan syndrome 5 noonan_syndrome_5 Noonan Syndrome 5 RAF1 DOID:0060583 mucopolysaccharidosis type vi mucopolysaccharidosis_type_vi_maroteaux_lamy Mucopolysaccharidosis Type Vi ARSB DOID:12800 insulin-like growth factor i insulin_like_growth_factor_i Insulin-Like Growth Factor I IGF1R deafness, autosomal dominant 12 deafness_autosomal_dominant_12 Deafness, Autosomal Dominant 12 TECTA DOID:0110544 waardenburg syndrome, type 2a waardenburg_syndrome_type_2a_2 Waardenburg Syndrome, Type 2a MITF DOID:0110950 deafness, autosomal recessive 8 deafness_autosomal_recessive_8 Deafness, Autosomal Recessive 8 TMPRSS3 DOID:0110527 leopard syndrome 2 leopard_syndrome_2 Leopard Syndrome 2 RAF1 treacher collins syndrome 3 treacher_collins_syndrome_3 Treacher Collins Syndrome 3 POLR1C neurodegeneration with brain iron accumulation 2a neurodegeneration_with_brain_iron_accumulation_2a Neurodegeneration with Brain Iron Accumulation 2a PLA2G6 DOID:0110735 androgen insensitivity syndrome androgen_insensitivity_syndrome Androgen Insensitivity Syndrome AR DOID:4674 neurodegeneration with brain iron accumulation 2b neurodegeneration_with_brain_iron_accumulation_2b Neurodegeneration with Brain Iron Accumulation 2b PLA2G6 DOID:0110736 cone-rod dystrophy 6 cone_rod_dystrophy_6 Cone-Rod Dystrophy 6 GUCY2D DOID:0111011 cardiomyopathy, familial hypertrophic, 4 cardiomyopathy_familial_hypertrophic_4 Cardiomyopathy, Familial Hypertrophic, 4 MYBPC3 DOID:0110310 deafness, autosomal dominant 65 deafness_autosomal_dominant_65 Deafness, Autosomal Dominant 65 TBC1D24 DOID:0110586 arrhythmogenic right ventricular dysplasia, familial, 9 arrhythmogenic_right_ventricular_dysplasia_familial_9 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 PKP2 DOID:0110077 brugada syndrome 1 brugada_syndrome_1 Brugada Syndrome 1 SCN5A DOID:0110218 leber congenital amaurosis 16 leber_congenital_amaurosis_16 Leber Congenital Amaurosis 16 KCNJ13 DOID:0110118 gastric cancer gastric_cancer Gastric Cancer APC DOID:5517 fanconi anemia, complementation group d2 fanconi_anemia_complementation_group_d2 Fanconi Anemia, Complementation Group D2 FANCD2 DOID:0111083 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent NEUROD1 DOID:9352 bardet-biedl syndrome 9 bardet_biedl_syndrome_9 Bardet-Biedl Syndrome 9 BBS9 DOID:0110131 hypotrichosis 8 hypotrichosis_8 Hypotrichosis 8 LPAR6 DOID:0110705 arrhythmogenic right ventricular dysplasia, familial, 8 arrhythmogenic_right_ventricular_dysplasia_familial_8 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 DSP DOID:0110076 mucopolysaccharidosis, type ii mucopolysaccharidosis_type_ii Mucopolysaccharidosis, Type Ii IDS DOID:12799 leber congenital amaurosis 9 leber_congenital_amaurosis_9 Leber Congenital Amaurosis 9 NMNAT1 DOID:0110005 exudative vitreoretinopathy 1 exudative_vitreoretinopathy_1 Exudative Vitreoretinopathy 1 FZD4 DOID:13025 brooke-spiegler syndrome brooke_spiegler_syndrome Brooke-Spiegler Syndrome CYLD DOID:0050693 pheochromocytoma pheochromocytoma Pheochromocytoma VHL cardiomyopathy, familial hypertrophic, 2 cardiomyopathy_familial_hypertrophic_2 Cardiomyopathy, Familial Hypertrophic, 2 TNNT2 DOID:0110308 xeroderma pigmentosum, complementation group b xeroderma_pigmentosum_complementation_group_b Xeroderma Pigmentosum, Complementation Group B ERCC3 DOID:0110850 myasthenic syndrome, congenital, 6, presynaptic myasthenic_syndrome_congenital_6_presynaptic Myasthenic Syndrome, Congenital, 6, Presynaptic CHAT DOID:0110671 long qt syndrome 15 long_qt_syndrome_15 Long Qt Syndrome 15 CALM2 DOID:0110656 retinitis pigmentosa 2 retinitis_pigmentosa_2_2 Retinitis Pigmentosa 2 RP2 DOID:0110415 elliptocytosis 2 elliptocytosis_2 Elliptocytosis 2 SPTA1 pulmonary fibrosis, idiopathic pulmonary_fibrosis_idiopathic Pulmonary Fibrosis, Idiopathic SFTPA2 DOID:0050156 split-hand/foot malformation 4 split_hand_foot_malformation_4 Split-Hand/foot Malformation 4 TP63 DOID:0090023 gastric cancer gastric_cancer Gastric Cancer CASP10 DOID:5517 deafness, autosomal recessive 48 deafness_autosomal_recessive_48_2 Deafness, Autosomal Recessive 48 CIB2 DOID:0110505 dystonia 11, myoclonic dystonia_11_myoclonic_2 Dystonia 11, Myoclonic SGCE DOID:0090034 keratosis, seborrheic keratosis_seborrheic Keratosis, Seborrheic PIK3CA DOID:6498 cornelia de lange syndrome 1 cornelia_de_lange_syndrome_1 Cornelia De Lange Syndrome 1 NIPBL fanconi anemia, complementation group o fanconi_anemia_complementation_group_o Fanconi Anemia, Complementation Group O RAD51C DOID:0111096 adams-oliver syndrome 5 adams_oliver_syndrome_5 Adams-Oliver Syndrome 5 NOTCH1 aortic aneurysm, familial thoracic 4 aortic_aneurysm_familial_thoracic_4 Aortic Aneurysm, Familial Thoracic 4 MYH11 aortic aneurysm, familial thoracic 7 aortic_aneurysm_familial_thoracic_7 Aortic Aneurysm, Familial Thoracic 7 MYLK pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_3 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 RTEL1 cardiomyopathy, familial hypertrophic, 26 cardiomyopathy_familial_hypertrophic_26 Cardiomyopathy, Familial Hypertrophic, 26 FLNC DOID:0110327 maturity-onset diabetes of the young, type 2 maturity_onset_diabetes_of_the_young_type_2 Maturity-Onset Diabetes of the Young, Type 2 GCK DOID:0111100 muenke syndrome muenke_syndrome Muenke Syndrome FGFR3 DOID:0060703 generalized epilepsy with febrile seizures plus, type 2 generalized_epilepsy_with_febrile_seizures_plus_type_2 Generalized Epilepsy with Febrile Seizures Plus, Type 2 SCN1A mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS6 DOID:0060536 pelger-huet anomaly pelger_huet_anomaly Pelger-Huet Anomaly LBR DOID:9631 epileptic encephalopathy, early infantile, 42 epileptic_encephalopathy_early_infantile_42 Epileptic Encephalopathy, Early Infantile, 42 CACNA1A gastric cancer gastric_cancer Gastric Cancer MUTYH DOID:5517 retinitis pigmentosa 42 retinitis_pigmentosa_42_2 Retinitis Pigmentosa 42 KLHL7 DOID:0110386 lymphedema, primary, with myelodysplasia lymphedema_primary_with_myelodysplasia Lymphedema, Primary, with Myelodysplasia GATA2 cardiomyopathy, familial hypertrophic, 1 cardiomyopathy_familial_hypertrophic_1 Cardiomyopathy, Familial Hypertrophic, 1 MYH7 DOID:0110307 loeys-dietz syndrome 1 loeys_dietz_syndrome_1 Loeys-Dietz Syndrome 1 TGFBR1 hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic_hypogonadism_2_with_or_without_anosmia Hypogonadotropic Hypogonadism 2 with or Without Anosmia FGFR1 DOID:0090083 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia amyotrophic_lateral_sclerosis_14_with_or_without_frontotemporal_dementia_2 Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia VCP emery-dreifuss muscular dystrophy 1, x-linked emery_dreifuss_muscular_dystrophy_1_x_linked Emery-Dreifuss Muscular Dystrophy 1, X-Linked EMD mosaic variegated aneuploidy syndrome 1 mosaic_variegated_aneuploidy_syndrome_1 Mosaic Variegated Aneuploidy Syndrome 1 BUB1B DOID:0080141 alternating hemiplegia of childhood 2 alternating_hemiplegia_of_childhood_2 Alternating Hemiplegia of Childhood 2 ATP1A3 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS2 DOID:0060536 paragangliomas 5 paragangliomas_5 Paragangliomas 5 SDHA retinitis pigmentosa 18 retinitis_pigmentosa_18 Retinitis Pigmentosa 18 PRPF3 DOID:0110356 platelet glycoprotein iv deficiency platelet_glycoprotein_iv_deficiency Platelet Glycoprotein Iv Deficiency CD36 DOID:0111046 epileptic encephalopathy, childhood-onset epileptic_encephalopathy_childhood_onset Epileptic Encephalopathy, Childhood-Onset CHD2 DOID:0060475 aortic aneurysm, familial thoracic 6 aortic_aneurysm_familial_thoracic_6 Aortic Aneurysm, Familial Thoracic 6 ACTA2 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome SMAD4 dyskeratosis congenita, autosomal recessive 5 dyskeratosis_congenita_autosomal_recessive_5 Dyskeratosis Congenita, Autosomal Recessive 5 RTEL1 DOID:0070022 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_dominant Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant GRIN1 epileptic encephalopathy, early infantile, 11 epileptic_encephalopathy_early_infantile_11 Epileptic Encephalopathy, Early Infantile, 11 SCN2A hyperphosphatasia with mental retardation syndrome 2 hyperphosphatasia_with_mental_retardation_syndrome_2 Hyperphosphatasia with Mental Retardation Syndrome 2 PIGO myasthenic syndrome, congenital, 2a, slow-channel myasthenic_syndrome_congenital_2a_slow_channel Myasthenic Syndrome, Congenital, 2a, Slow-Channel CHRNB1 epileptic encephalopathy, early infantile, 26 epileptic_encephalopathy_early_infantile_26 Epileptic Encephalopathy, Early Infantile, 26 KCNB1 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities dystonia_childhood_onset_with_optic_atrophy_and_basal_ganglia_abnormalities Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities MECR tooth agenesis, selective, x-linked, 1 tooth_agenesis_selective_x_linked_1 Tooth Agenesis, Selective, X-Linked, 1 EDA epileptic encephalopathy, early infantile, 31 epileptic_encephalopathy_early_infantile_31 Epileptic Encephalopathy, Early Infantile, 31 DNM1 rett syndrome, congenital variant rett_syndrome_congenital_variant Rett Syndrome, Congenital Variant FOXG1 atelosteogenesis, type ii atelosteogenesis_type_ii Atelosteogenesis, Type Ii SLC26A2 deafness, autosomal dominant 3a deafness_autosomal_dominant_3a Deafness, Autosomal Dominant 3a GJB2 DOID:0110564 goiter, multinodular 1, with or without sertoli-leydig cell tumors goiter_multinodular_1_with_or_without_sertoli_leydig_cell_tumors Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors DICER1 mitochondrial dna depletion syndrome 4b mitochondrial_dna_depletion_syndrome_4b_mngie_type Mitochondrial Dna Depletion Syndrome 4b POLG DOID:0080123 aicardi-goutieres syndrome 7 aicardi_goutieres_syndrome_7 Aicardi-Goutieres Syndrome 7 IFIH1 paragangliomas 4 paragangliomas_4 Paragangliomas 4 SDHB 46,xy sex reversal 3 46xy_sex_reversal_3_2 46,xy Sex Reversal 3 NR5A1 cone-rod dystrophy 3 cone_rod_dystrophy_3 Cone-Rod Dystrophy 3 ABCA4 DOID:0111013 epileptic encephalopathy, early infantile, 33 epileptic_encephalopathy_early_infantile_33 Epileptic Encephalopathy, Early Infantile, 33 EEF1A2 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness ventricular_tachycardia_catecholaminergic_polymorphic_5_with_or_without_muscle_weakness Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness TRDN retinitis pigmentosa 39 retinitis_pigmentosa_39_2 Retinitis Pigmentosa 39 USH2A DOID:0110360 aicardi-goutieres syndrome 6 aicardi_goutieres_syndrome_6 Aicardi-Goutieres Syndrome 6 ADAR myoclonic-atonic epilepsy myoclonic_atonic_epilepsy Myoclonic-Atonic Epilepsy SLC6A1 senior-loken syndrome 8 senior_loken_syndrome_8 Senior-Loken Syndrome 8 WDR19 nemaline myopathy 8 nemaline_myopathy_8 Nemaline Myopathy 8 KLHL40 DOID:0110930 frontotemporal dementia frontotemporal_dementia Frontotemporal Dementia PSEN1 DOID:9255 retinitis pigmentosa 17 retinitis_pigmentosa_17 Retinitis Pigmentosa 17 CA4 DOID:0110404 cortical dysplasia, complex, with other brain malformations 5 cortical_dysplasia_complex_with_other_brain_malformations_5 Cortical Dysplasia, Complex, with Other Brain Malformations 5 TUBB2A DOID:0090135 shprintzen-goldberg craniosynostosis syndrome shprintzen_goldberg_craniosynostosis_syndrome Shprintzen-Goldberg Craniosynostosis Syndrome SKI deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome deafness_onychodystrophy_osteodystrophy_mental_retardation_and_seizures_syndrome Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome TBC1D24 arrhythmogenic right ventricular dysplasia, familial, 11 arrhythmogenic_right_ventricular_dysplasia_familial_11 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 DSC2 DOID:0110082 epileptic encephalopathy, early infantile, 19 epileptic_encephalopathy_early_infantile_19 Epileptic Encephalopathy, Early Infantile, 19 GABRA1 joubert syndrome 9 joubert_syndrome_9 Joubert Syndrome 9 CC2D2A DOID:0111004 hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic_hypogonadism_19_with_or_without_anosmia Hypogonadotropic Hypogonadism 19 with or Without Anosmia DUSP6 DOID:0090090 peroxisome biogenesis disorder 9b peroxisome_biogenesis_disorder_9b Peroxisome Biogenesis Disorder 9b PEX7 ciliary dyskinesia, primary, 3 ciliary_dyskinesia_primary_3 Ciliary Dyskinesia, Primary, 3 DNAH5 DOID:0110599 familial mediterranean fever, autosomal dominant familial_mediterranean_fever_autosomal_dominant Familial Mediterranean Fever, Autosomal Dominant MEFV hemolytic uremic syndrome, atypical 5 hemolytic_uremic_syndrome_atypical_5 Hemolytic Uremic Syndrome, Atypical 5 C3 waardenburg syndrome, type 4a waardenburg_syndrome_type_4a Waardenburg Syndrome, Type 4a EDNRB DOID:0110953 mental retardation, autosomal dominant 6, with or without seizures mental_retardation_autosomal_dominant_6_with_or_without_seizures Mental Retardation, Autosomal Dominant 6, with or Without Seizures GRIN2B mental retardation, x-linked, syndromic, bain type mental_retardation_x_linked_syndromic_bain_type Mental Retardation, X-Linked, Syndromic, Bain Type HNRNPH2 hemolytic uremic syndrome, atypical 3 hemolytic_uremic_syndrome_atypical_3 Hemolytic Uremic Syndrome, Atypical 3 CFI hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic_hypogonadism_8_with_or_without_anosmia Hypogonadotropic Hypogonadism 8 with or Without Anosmia KISS1R DOID:0090074 li-fraumeni syndrome 2 li_fraumeni_syndrome_2 Li-Fraumeni Syndrome 2 CHEK2 neurodevelopmental disorder with involuntary movements neurodevelopmental_disorder_with_involuntary_movements Neurodevelopmental Disorder with Involuntary Movements GNAO1 myopathy, myosin storage, autosomal recessive myopathy_myosin_storage_autosomal_recessive Myopathy, Myosin Storage, Autosomal Recessive MYH7 zimmermann-laband syndrome 1 zimmermann_laband_syndrome_1 Zimmermann-Laband Syndrome 1 KCNH1 hemolytic uremic syndrome, atypical 6 hemolytic_uremic_syndrome_atypical_6 Hemolytic Uremic Syndrome, Atypical 6 THBD hemolytic uremic syndrome, atypical 4 hemolytic_uremic_syndrome_atypical_4 Hemolytic Uremic Syndrome, Atypical 4 CFB seizures, benign familial neonatal, 1 seizures_benign_familial_neonatal_1 Seizures, Benign Familial Neonatal, 1 KCNQ2 joubert syndrome 6 joubert_syndrome_6 Joubert Syndrome 6 TMEM67 DOID:0111001 noonan syndrome 4 noonan_syndrome_4 Noonan Syndrome 4 SOS1 DOID:0060582 hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic_hypogonadism_21_with_or_without_anosmia Hypogonadotropic Hypogonadism 21 with or Without Anosmia FLRT3 DOID:0090093 loeys-dietz syndrome 4 loeys_dietz_syndrome_4 Loeys-Dietz Syndrome 4 TGFB2 joubert syndrome 3 joubert_syndrome_3_2 Joubert Syndrome 3 AHI1 DOID:0110998 nemaline myopathy 9 nemaline_myopathy_9 Nemaline Myopathy 9 KLHL41 DOID:0110929 leopard syndrome 1 leopard_syndrome_1 Leopard Syndrome 1 PTPN11 melanoma-pancreatic cancer syndrome melanoma_pancreatic_cancer_syndrome Melanoma-Pancreatic Cancer Syndrome CDKN2A epileptic encephalopathy, early infantile, 28 epileptic_encephalopathy_early_infantile_28 Epileptic Encephalopathy, Early Infantile, 28 WWOX peroxisome biogenesis disorder 5b peroxisome_biogenesis_disorder_5b Peroxisome Biogenesis Disorder 5b PEX2 retinitis pigmentosa 40 retinitis_pigmentosa_40_2 Retinitis Pigmentosa 40 PDE6B DOID:0110375 geleophysic dysplasia 2 geleophysic_dysplasia_2 Geleophysic Dysplasia 2 FBN1 three m syndrome 1 three_m_syndrome_1 Three M Syndrome 1 CUL7 DOID:0060241 hypotonia, ataxia, and delayed development syndrome hypotonia_ataxia_and_delayed_development_syndrome Hypotonia, Ataxia, and Delayed Development Syndrome EBF3 mental retardation, autosomal dominant 24 mental_retardation_autosomal_dominant_24 Mental Retardation, Autosomal Dominant 24 DEAF1 DOID:0070054 hyperphosphatasia with mental retardation syndrome 1 hyperphosphatasia_with_mental_retardation_syndrome_1 Hyperphosphatasia with Mental Retardation Syndrome 1 PIGV cranioectodermal dysplasia 2 cranioectodermal_dysplasia_2 Cranioectodermal Dysplasia 2 WDR35 mental retardation, autosomal recessive 15 mental_retardation_autosomal_recessive_15 Mental Retardation, Autosomal Recessive 15 MAN1B1 frank-ter haar syndrome frank_ter_haar_syndrome_2 Frank-Ter Haar Syndrome SH3PXD2B thyroid dyshormonogenesis 6 thyroid_dyshormonogenesis_6 Thyroid Dyshormonogenesis 6 DUOX2 cardiomyopathy, familial hypertrophic, 7 cardiomyopathy_familial_hypertrophic_7 Cardiomyopathy, Familial Hypertrophic, 7 TNNI3 DOID:0110313 porokeratosis 3, multiple types porokeratosis_3_multiple_types Porokeratosis 3, Multiple Types MVK long qt syndrome 14 long_qt_syndrome_14 Long Qt Syndrome 14 CALM1 DOID:0110655 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations NKX2-6 spondylometaphyseal dysplasia, axial spondylometaphyseal_dysplasia_axial Spondylometaphyseal Dysplasia, Axial C21orf2 atrial fibrillation, familial, 13 atrial_fibrillation_familial_13 Atrial Fibrillation, Familial, 13 SCN1B generalized epilepsy with febrile seizures plus, type 1 generalized_epilepsy_with_febrile_seizures_plus_type_1 Generalized Epilepsy with Febrile Seizures Plus, Type 1 SCN1B cardiomyopathy, dilated, 1dd cardiomyopathy_dilated_1dd Cardiomyopathy, Dilated, 1dd RBM20 DOID:0110447 cardiomyopathy, familial hypertrophic, 11 cardiomyopathy_familial_hypertrophic_11 Cardiomyopathy, Familial Hypertrophic, 11 ACTC1 DOID:0110317 meier-gorlin syndrome 2 meier_gorlin_syndrome_2 Meier-Gorlin Syndrome 2 ORC4 retinitis pigmentosa 76 retinitis_pigmentosa_76 Retinitis Pigmentosa 76 POMGNT1 nemaline myopathy 1 nemaline_myopathy_1 Nemaline Myopathy 1 TPM3 DOID:0110926 noonan syndrome 8 noonan_syndrome_8 Noonan Syndrome 8 RIT1 DOID:0060586 combined oxidative phosphorylation deficiency 16 combined_oxidative_phosphorylation_deficiency_16 Combined Oxidative Phosphorylation Deficiency 16 MRPL44 cardiomyopathy, familial hypertrophic, 10 cardiomyopathy_familial_hypertrophic_10 Cardiomyopathy, Familial Hypertrophic, 10 MYL2 DOID:0110316 cowden syndrome 5 cowden_syndrome_5 Cowden Syndrome 5 PIK3CA auriculocondylar syndrome 2 auriculocondylar_syndrome_2 Auriculocondylar Syndrome 2 PLCB4 seizures, benign familial infantile, 2 seizures_benign_familial_infantile_2 Seizures, Benign Familial Infantile, 2 PRRT2 cardiomyopathy, dilated, 1hh cardiomyopathy_dilated_1hh Cardiomyopathy, Dilated, 1hh BAG3 DOID:0110448 cardiomyopathy, familial restrictive, 1 cardiomyopathy_familial_restrictive_1 Cardiomyopathy, Familial Restrictive, 1 TNNI3 mental retardation, autosomal dominant 38 mental_retardation_autosomal_dominant_38 Mental Retardation, Autosomal Dominant 38 EEF1A2 DOID:0070068 cardiofaciocutaneous syndrome 2 cardiofaciocutaneous_syndrome_2 Cardiofaciocutaneous Syndrome 2 KRAS senior-loken syndrome 6 senior_loken_syndrome_6 Senior-Loken Syndrome 6 CEP290 cardiomyopathy, familial hypertrophic, 8 cardiomyopathy_familial_hypertrophic_8 Cardiomyopathy, Familial Hypertrophic, 8 MYL3 DOID:0110314 coffin-siris syndrome 3 coffin_siris_syndrome_3 Coffin-Siris Syndrome 3 SMARCB1 DOID:0070045 seizures, benign familial neonatal, 2 seizures_benign_familial_neonatal_2 Seizures, Benign Familial Neonatal, 2 KCNQ3 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome COX15 DOID:3652 alazami-yuan syndrome alazami_yuan_syndrome Alazami-Yuan Syndrome TAF6 short qt syndrome 2 short_qt_syndrome_2 Short Qt Syndrome 2 KCNQ1 short qt syndrome 1 short_qt_syndrome_1 Short Qt Syndrome 1 KCNH2 perrault syndrome 4 perrault_syndrome_4 Perrault Syndrome 4 LARS2 cardiomyopathy, familial hypertrophic, 3 cardiomyopathy_familial_hypertrophic_3 Cardiomyopathy, Familial Hypertrophic, 3 TPM1 DOID:0110309 pontocerebellar hypoplasia, type 1b pontocerebellar_hypoplasia_type_1b Pontocerebellar Hypoplasia, Type 1b EXOSC3 DOID:0060266 immunodeficiency, common variable, 2 immunodeficiency_common_variable_2 Immunodeficiency, Common Variable, 2 TNFRSF13B cardiomyopathy, dilated, 1ff cardiomyopathy_dilated_1ff Cardiomyopathy, Dilated, 1ff TNNI3 DOID:0110459 noonan syndrome 7 noonan_syndrome_7 Noonan Syndrome 7 BRAF DOID:0060585 meckel syndrome, type 2 meckel_syndrome_type_2_2 Meckel Syndrome, Type 2 TMEM216 DOID:0070116 retinitis pigmentosa 37 retinitis_pigmentosa_37_2 Retinitis Pigmentosa 37 NR2E3 DOID:0110399 ichthyosis, hystrix-like, with deafness ichthyosis_hystrix_like_with_deafness Ichthyosis, Hystrix-Like, with Deafness GJB2 sucrase-isomaltase deficiency, congenital sucrase_isomaltase_deficiency_congenital Sucrase-Isomaltase Deficiency, Congenital SI melanosis, neurocutaneous melanosis_neurocutaneous Melanosis, Neurocutaneous NRAS cardiomyopathy, dilated, 1r cardiomyopathy_dilated_1r Cardiomyopathy, Dilated, 1r ACTC1 DOID:0110456 moyamoya disease 5 moyamoya_disease_5 Moyamoya Disease 5 ACTA2 immunoglobulin a deficiency 2 immunoglobulin_a_deficiency_2 Immunoglobulin a Deficiency 2 TNFRSF13B leopard syndrome 3 leopard_syndrome_3 Leopard Syndrome 3 BRAF nephronophthisis 11 nephronophthisis_11 Nephronophthisis 11 TMEM67 DOID:0111118 myofibromatosis, infantile, 1 myofibromatosis_infantile_1 Myofibromatosis, Infantile, 1 PDGFRB cardiomyopathy, familial hypertrophic, 9 cardiomyopathy_familial_hypertrophic_9 Cardiomyopathy, Familial Hypertrophic, 9 TTN DOID:0110315 microcephaly 1, primary, autosomal recessive microcephaly_1_primary_autosomal_recessive Microcephaly 1, Primary, Autosomal Recessive MCPH1 thrombocytopenia 5 thrombocytopenia_5 Thrombocytopenia 5 ETV6 multiple acyl-coa dehydrogenase deficiency multiple_acyl_coa_dehydrogenase_deficiency Multiple Acyl-Coa Dehydrogenase Deficiency ETFA DOID:0060358 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive ectodermal_dysplasia_10b_hypohidrotic_hair_tooth_type_autosomal_recessive Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive EDAR DOID:14793 dystonia, juvenile-onset dystonia_juvenile_onset Dystonia, Juvenile-Onset ACTB diabetes insipidus, neurohypophyseal diabetes_insipidus_neurohypophyseal Diabetes Insipidus, Neurohypophyseal AVP DOID:12388 focal segmental glomerulosclerosis 2 focal_segmental_glomerulosclerosis_2 Focal Segmental Glomerulosclerosis 2 TRPC6 DOID:0111129 spinocerebellar ataxia, autosomal recessive 1 spinocerebellar_ataxia_autosomal_recessive_1_2 Spinocerebellar Ataxia, Autosomal Recessive 1 SETX DOID:0050755 pontocerebellar hypoplasia, type 2a pontocerebellar_hypoplasia_type_2a_2 Pontocerebellar Hypoplasia, Type 2a TSEN54 DOID:0060267 epilepsy, familial temporal lobe, 1 epilepsy_familial_temporal_lobe_1 Epilepsy, Familial Temporal Lobe, 1 LGI1 DOID:0060748 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid GATA2 DOID:9119 deafness, autosomal dominant 15 deafness_autosomal_dominant_15 Deafness, Autosomal Dominant 15 POU4F3 DOID:0110546 chondrocalcinosis 2 chondrocalcinosis_2 Chondrocalcinosis 2 ANKH aicardi-goutieres syndrome 3 aicardi_goutieres_syndrome_3 Aicardi-Goutieres Syndrome 3 RNASEH2C fanconi anemia, complementation group g fanconi_anemia_complementation_group_g Fanconi Anemia, Complementation Group G FANCG DOID:0111086 fibrosis of extraocular muscles, congenital, 2 fibrosis_of_extraocular_muscles_congenital_2 Fibrosis of Extraocular Muscles, Congenital, 2 PHOX2A deafness, autosomal recessive 7 deafness_autosomal_recessive_7 Deafness, Autosomal Recessive 7 TMC1 DOID:0110520 congenital disorder of glycosylation, type iii congenital_disorder_of_glycosylation_type_iii Congenital Disorder of Glycosylation, Type Iii COG5 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia corpus_callosum_agenesis_of_with_mental_retardation_ocular_coloboma_and_micrognathia_2 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia IGBP1 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent MAPK8IP1 DOID:9352 ehlers-danlos syndrome, cardiac valvular type ehlers_danlos_syndrome_cardiac_valvular_type Ehlers-Danlos Syndrome, Cardiac Valvular Type COL1A2 ehlers-danlos syndrome, spondylodysplastic type, 3 ehlers_danlos_syndrome_spondylodysplastic_type_3 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 SLC39A13 eiken syndrome eiken_syndrome Eiken Syndrome PTH1R epidermolysis bullosa, nonspecific, autosomal recessive epidermolysis_bullosa_nonspecific_autosomal_recessive Epidermolysis Bullosa, Nonspecific, Autosomal Recessive EXPH5 fanconi-bickel syndrome fanconi_bickel_syndrome Fanconi-Bickel Syndrome LDHA fontaine progeroid syndrome fontaine_progeroid_syndrome Fontaine Progeroid Syndrome SLC25A24 hyperbilirubinemia, transient familial neonatal hyperbilirubinemia_transient_familial_neonatal_2 Hyperbilirubinemia, Transient Familial Neonatal UGT1A1 hyperinsulinemic hypoglycemia, familial, 7 hyperinsulinemic_hypoglycemia_familial_7 Hyperinsulinemic Hypoglycemia, Familial, 7 SLC16A1 hyperlipoproteinemia, type v hyperlipoproteinemia_type_v_2 Hyperlipoproteinemia, Type V APOA5 DOID:1171 immunodeficiency 54 immunodeficiency_54 Immunodeficiency 54 MCM4 lipodystrophy, congenital generalized, type 4 lipodystrophy_congenital_generalized_type_4 Lipodystrophy, Congenital Generalized, Type 4 CAVIN1 DOID:0111138 lipodystrophy, familial partial, type 4 lipodystrophy_familial_partial_type_4 Lipodystrophy, Familial Partial, Type 4 PLIN1 lipodystrophy, familial partial, type 6 lipodystrophy_familial_partial_type_6 Lipodystrophy, Familial Partial, Type 6 LIPE meckel syndrome, type 10 meckel_syndrome_type_10 Meckel Syndrome, Type 10 B9D2 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome mental_retardation_truncal_obesity_retinal_dystrophy_and_micropenis_syndrome Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome INPP5E mental retardation, x-linked, with panhypopituitarism mental_retardation_x_linked_with_panhypopituitarism Mental Retardation, X-Linked, with Panhypopituitarism SOX3 mitochondrial complex v deficiency, nuclear type 4 mitochondrial_complex_v_deficiency_nuclear_type_4 Mitochondrial Complex V Deficiency, Nuclear Type 4 ATP5F1A DOID:0060333 myxoma, intracardiac myxoma_intracardiac Myxoma, Intracardiac PRKAR1A neuropathy, hereditary sensory and autonomic, type iia neuropathy_hereditary_sensory_and_autonomic_type_iia Neuropathy, Hereditary Sensory and Autonomic, Type Iia WNK1 DOID:0070161 obesity, early-onset, with adrenal insufficiency and red hair obesity_early_onset_with_adrenal_insufficiency_and_red_hair Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair POMC palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_46xx_sex_reversal Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal RSPO1 palmoplantar keratoderma i, striate, focal, or diffuse palmoplantar_keratoderma_i_striate_focal_or_diffuse Palmoplantar Keratoderma I, Striate, Focal, or Diffuse DSG1 palmoplantar keratoderma, punctate type ia palmoplantar_keratoderma_punctate_type_ia Palmoplantar Keratoderma, Punctate Type Ia AAGAB DOID:0080214 polydactyly, preaxial iv polydactyly_preaxial_iv Polydactyly, Preaxial Iv GLI3 primary lateral sclerosis, juvenile primary_lateral_sclerosis_juvenile Primary Lateral Sclerosis, Juvenile ALS2 pseudohypoaldosteronism, type iic pseudohypoaldosteronism_type_iic_2 Pseudohypoaldosteronism, Type Iic WNK1 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked rolandic_epilepsy_mental_retardation_and_speech_dyspraxia_x_linked Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked SRPX2 t-cell receptor-alpha/beta deficiency t_cell_receptor_alpha_beta_deficiency T-Cell Receptor-Alpha/beta Deficiency TRAC tumoral calcinosis, hyperphosphatemic, familial, 1 tumoral_calcinosis_hyperphosphatemic_familial_1 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 GALNT3 DOID:0111063 vohwinkel syndrome, variant form vohwinkel_syndrome_variant_form Vohwinkel Syndrome, Variant Form LOR weill-marchesani syndrome 4 weill_marchesani_syndrome_4 Weill-Marchesani Syndrome 4 ADAMTS17 platelet-activating factor acetylhydrolase deficiency platelet_activating_factor_acetylhydrolase_deficiency Platelet-Activating Factor Acetylhydrolase Deficiency PLA2G7 pheochromocytoma pheochromocytoma Pheochromocytoma SDHD medullary cystic kidney disease 2 medullary_cystic_kidney_disease_2 Medullary Cystic Kidney Disease 2 UMOD hypobetalipoproteinemia, familial, 1 hypobetalipoproteinemia_familial_1 Hypobetalipoproteinemia, Familial, 1 APOB DOID:1390 parietal foramina 2 parietal_foramina_2 Parietal Foramina 2 ALX4 hypercholesterolemia, autosomal recessive hypercholesterolemia_autosomal_recessive Hypercholesterolemia, Autosomal Recessive LDLRAP1 DOID:0090105 parietal foramina 1 parietal_foramina_1 Parietal Foramina 1 MSX2 combined immunodeficiency, x-linked combined_immunodeficiency_x_linked Combined Immunodeficiency, X-Linked IL2RG DOID:628 intrinsic factor deficiency intrinsic_factor_deficiency Intrinsic Factor Deficiency GIF lujan-fryns syndrome lujan_fryns_syndrome_2 Lujan-Fryns Syndrome MED12 alpha-methylacyl-coa racemase deficiency alpha_methylacyl_coa_racemase_deficiency Alpha-Methylacyl-Coa Racemase Deficiency AMACR DOID:0060602 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation microcephaly_with_or_without_chorioretinopathy_lymphedema_or_mental_retardation Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation KIF11 DOID:0060349 immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency_centromeric_instability_facial_anomalies_syndrome_2 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 ZBTB24 DOID:0090009 dementia, lewy body dementia_lewy_body Dementia, Lewy Body SNCA DOID:12217 cone dystrophy 3 cone_dystrophy_3 Cone Dystrophy 3 GUCA1A fg syndrome 4 fg_syndrome_4 Fg Syndrome 4 CASK deafness, autosomal dominant 20 deafness_autosomal_dominant_20 Deafness, Autosomal Dominant 20 ACTG1 DOID:0110550 dentinogenesis imperfecta 1 dentinogenesis_imperfecta_1 Dentinogenesis Imperfecta 1 DSPP bardet-biedl syndrome 6 bardet_biedl_syndrome_6 Bardet-Biedl Syndrome 6 MKKS DOID:0110128 jackson-weiss syndrome jackson_weiss_syndrome Jackson-Weiss Syndrome FGFR1 deafness, autosomal recessive 6 deafness_autosomal_recessive_6 Deafness, Autosomal Recessive 6 TMIE DOID:0110512 alzheimer disease 4 alzheimer_disease_4_2 Alzheimer Disease 4 PSEN2 DOID:0110040 deafness, autosomal recessive 42 deafness_autosomal_recessive_42_2 Deafness, Autosomal Recessive 42 ILDR1 DOID:0110500 deafness, autosomal recessive 63 deafness_autosomal_recessive_63 Deafness, Autosomal Recessive 63 LRTOMT DOID:0110515 deafness, autosomal recessive 25 deafness_autosomal_recessive_25 Deafness, Autosomal Recessive 25 GRXCR1 DOID:0110483 dystonia, dopa-responsive dystonia_dopa_responsive Dystonia, Dopa-Responsive GCH1 DOID:0090043 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS1 DOID:0060536 amyotrophic lateral sclerosis 8 amyotrophic_lateral_sclerosis_8 Amyotrophic Lateral Sclerosis 8 VAPB DOID:0050752 c1q deficiency c1q_deficiency C1q Deficiency C1QC acrofacial dysostosis, cincinnati type acrofacial_dysostosis_cincinnati_type Acrofacial Dysostosis, Cincinnati Type POLR1A DOID:0060353 retinitis pigmentosa 10 retinitis_pigmentosa_10_2 Retinitis Pigmentosa 10 IMPDH1 DOID:0110388 deafness, autosomal recessive 67 deafness_autosomal_recessive_67 Deafness, Autosomal Recessive 67 LHFPL5 DOID:0110518 deafness, autosomal recessive 35 deafness_autosomal_recessive_35 Deafness, Autosomal Recessive 35 ESRRB DOID:0110493 myopia 6 myopia_6 Myopia 6 SCO2 deafness, autosomal recessive 74 deafness_autosomal_recessive_74 Deafness, Autosomal Recessive 74 MSRB3 DOID:0110523 deafness, autosomal recessive 15 deafness_autosomal_recessive_15_2 Deafness, Autosomal Recessive 15 GIPC3 DOID:0110470 epilepsy, nocturnal frontal lobe, 1 epilepsy_nocturnal_frontal_lobe_1 Epilepsy, Nocturnal Frontal Lobe, 1 CHRNA4 DOID:0060682 cardiomyopathy, dilated, 3b cardiomyopathy_dilated_3b Cardiomyopathy, Dilated, 3b DMD DOID:0110461 weaver syndrome weaver_syndrome Weaver Syndrome EZH2 DOID:14731 c1q deficiency c1q_deficiency C1q Deficiency C1QB deafness, autosomal recessive 37 deafness_autosomal_recessive_37 Deafness, Autosomal Recessive 37 MYO6 DOID:0110495 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFAF4 DOID:0060536 retinitis pigmentosa 26 retinitis_pigmentosa_26 Retinitis Pigmentosa 26 CERKL DOID:0110368 nephronophthisis 3 nephronophthisis_3 Nephronophthisis 3 NPHP3 DOID:0111114 retinitis pigmentosa 25 retinitis_pigmentosa_25 Retinitis Pigmentosa 25 EYS DOID:0110384 retinitis pigmentosa 11 retinitis_pigmentosa_11 Retinitis Pigmentosa 11 PRPF31 DOID:0110408 long qt syndrome 9 long_qt_syndrome_9 Long Qt Syndrome 9 CAV3 DOID:0110650 deafness, autosomal recessive 59 deafness_autosomal_recessive_59 Deafness, Autosomal Recessive 59 PJVK DOID:0110511 hyperaldosteronism, familial, type iv hyperaldosteronism_familial_type_iv Hyperaldosteronism, Familial, Type Iv CACNA1H glycine encephalopathy glycine_encephalopathy Glycine Encephalopathy AMT DOID:9268 holoprosencephaly 2 holoprosencephaly_2_2 Holoprosencephaly 2 SIX3 DOID:0110872 hyperglycinuria hyperglycinuria Hyperglycinuria SLC36A2 lynch syndrome i lynch_syndrome_i Lynch Syndrome I MSH2 3-methylcrotonyl-coa carboxylase 1 deficiency 3_methylcrotonyl_coa_carboxylase_1_deficiency_2 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency MCCC1 neurofibromatosis, familial spinal neurofibromatosis_familial_spinal Neurofibromatosis, Familial Spinal NF1 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFAF3 DOID:0060536 retinitis pigmentosa 45 retinitis_pigmentosa_45_2 Retinitis Pigmentosa 45 CNGB1 DOID:0110402 deafness, autosomal recessive 68 deafness_autosomal_recessive_68 Deafness, Autosomal Recessive 68 S1PR2 DOID:0110519 progressive familial heart block, type ia progressive_familial_heart_block_type_ia Progressive Familial Heart Block, Type Ia SCN5A DOID:0111074 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent PPP1R3A DOID:9352 amyotrophic lateral sclerosis 20 amyotrophic_lateral_sclerosis_20 Amyotrophic Lateral Sclerosis 20 HNRNPA1 DOID:0060211 joubert syndrome 17 joubert_syndrome_17 Joubert Syndrome 17 CPLANE1 DOID:0110986 deafness, autosomal dominant 41 deafness_autosomal_dominant_41 Deafness, Autosomal Dominant 41 P2RX2 DOID:0110567 parkinson disease 6, autosomal recessive early-onset parkinson_disease_6_autosomal_recessive_early_onset Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 DOID:0060369 keratitis-ichthyosis-deafness syndrome, autosomal dominant keratitis_ichthyosis_deafness_syndrome_autosomal_dominant Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant GJB2 DOID:0060871 left ventricular noncompaction 10 left_ventricular_noncompaction_10 Left Ventricular Noncompaction 10 MYBPC3 charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b MFN2 deafness, autosomal recessive 89 deafness_autosomal_recessive_89 Deafness, Autosomal Recessive 89 KARS DOID:0110534 osteogenesis imperfecta, type xv osteogenesis_imperfecta_type_xv Osteogenesis Imperfecta, Type Xv WNT1 DOID:0110347 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFA10 DOID:3652 deafness, autosomal recessive 24 deafness_autosomal_recessive_24_2 Deafness, Autosomal Recessive 24 RDX DOID:0110482 meckel syndrome, type 11 meckel_syndrome_type_11 Meckel Syndrome, Type 11 TMEM231 pigmented nodular adrenocortical disease, primary, 4 pigmented_nodular_adrenocortical_disease_primary_4 Pigmented Nodular Adrenocortical Disease, Primary, 4 PRKACA usher syndrome, type iic usher_syndrome_type_iic Usher Syndrome, Type Iic ADGRV1 DOID:0110839 pontocerebellar hypoplasia, type 2f pontocerebellar_hypoplasia_type_2f Pontocerebellar Hypoplasia, Type 2f TSEN15 amyotrophy, hereditary neuralgic amyotrophy_hereditary_neuralgic Amyotrophy, Hereditary Neuralgic Sep-09 renal hypodysplasia/aplasia 1 renal_hypodysplasia_aplasia_1 Renal Hypodysplasia/aplasia 1 ITGA8 DOID:14766 amelogenesis imperfecta, type ic amelogenesis_imperfecta_type_ic Amelogenesis Imperfecta, Type Ic ENAM DOID:0110056 glaucoma 1, open angle, a glaucoma_1_open_angle_a Glaucoma 1, Open Angle, a MYOC usher syndrome, type id usher_syndrome_type_id Usher Syndrome, Type Id PCDH15 DOID:0110831 polycystic kidney disease 1 with or without polycystic liver disease polycystic_kidney_disease_1_with_or_without_polycystic_liver_disease Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease PKD1 DOID:0110858 glycogen storage disease ib glycogen_storage_disease_ib Glycogen Storage Disease Ib SLC37A4 arrhythmogenic right ventricular dysplasia, familial, 13 arrhythmogenic_right_ventricular_dysplasia_familial_13 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 CTNNA3 DOID:0110084 acth-independent macronodular adrenal hyperplasia 2 acth_independent_macronodular_adrenal_hyperplasia_2 Acth-Independent Macronodular Adrenal Hyperplasia 2 ARMC5 amelogenesis imperfecta, type ib amelogenesis_imperfecta_type_ib Amelogenesis Imperfecta, Type Ib ENAM DOID:0110052 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant ectodermal_dysplasia_anhidrotic_with_t_cell_immunodeficiency_autosomal_dominant Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant NFKBIA short-rib thoracic dysplasia 11 with or without polydactyly short_rib_thoracic_dysplasia_11_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly WDR34 DOID:0110095 focal segmental glomerulosclerosis 5 focal_segmental_glomerulosclerosis_5 Focal Segmental Glomerulosclerosis 5 INF2 DOID:0111130 renal tubular acidosis, distal, autosomal recessive renal_tubular_acidosis_distal_autosomal_recessive Renal Tubular Acidosis, Distal, Autosomal Recessive ATP6V0A4 thyroid hormone resistance, generalized, autosomal dominant thyroid_hormone_resistance_generalized_autosomal_dominant Thyroid Hormone Resistance, Generalized, Autosomal Dominant THRB DOID:11633 vertical talus, congenital vertical_talus_congenital Vertical Talus, Congenital HOXD10 congenital contractures of the limbs and face, hypotonia, and developmental delay congenital_contractures_of_the_limbs_and_face_hypotonia_and_developmental_delay Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay NALCN frontotemporal dementia and/or amyotrophic lateral sclerosis 2 frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 CHCHD10 DOID:0060214 familial cold autoinflammatory syndrome 1 familial_cold_autoinflammatory_syndrome_1 Familial Cold Autoinflammatory Syndrome 1 NLRP3 DOID:0090062 pachyonychia congenita 2 pachyonychia_congenita_2 Pachyonychia Congenita 2 KRT17 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 megalencephaly_polymicrogyria_polydactyly_hydrocephalus_syndrome_3 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 CCND2 anterior segment dysgenesis 3 anterior_segment_dysgenesis_3 Anterior Segment Dysgenesis 3 FOXC1 dyskeratosis congenita, x-linked dyskeratosis_congenita_x_linked_2 Dyskeratosis Congenita, X-Linked DKC1 DOID:0070025 short-rib thoracic dysplasia 15 with polydactyly short_rib_thoracic_dysplasia_15_with_polydactyly Short-Rib Thoracic Dysplasia 15 with Polydactyly DYNC2LI1 hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic_hypogonadism_17_with_or_without_anosmia Hypogonadotropic Hypogonadism 17 with or Without Anosmia SPRY4 DOID:0090079 cortical dysplasia, complex, with other brain malformations 6 cortical_dysplasia_complex_with_other_brain_malformations_6 Cortical Dysplasia, Complex, with Other Brain Malformations 6 TUBB DOID:0090136 lactate dehydrogenase b deficiency lactate_dehydrogenase_b_deficiency_2 Lactate Dehydrogenase B Deficiency LDHB lymphedema-distichiasis syndrome lymphedema_distichiasis_syndrome Lymphedema-Distichiasis Syndrome FOXC2 glaucoma 1, open angle, g glaucoma_1_open_angle_g Glaucoma 1, Open Angle, G WDR36 facioscapulohumeral muscular dystrophy 2 facioscapulohumeral_muscular_dystrophy_2 Facioscapulohumeral Muscular Dystrophy 2 SMCHD1 short stature, microcephaly, and endocrine dysfunction short_stature_microcephaly_and_endocrine_dysfunction Short Stature, Microcephaly, and Endocrine Dysfunction XRCC4 aicardi-goutieres syndrome 5 aicardi_goutieres_syndrome_5 Aicardi-Goutieres Syndrome 5 SAMHD1 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 cerebellar_ataxia_mental_retardation_and_dysequilibrium_syndrome_3 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 CA8 ichthyosis, congenital, autosomal recessive 2 ichthyosis_congenital_autosomal_recessive_2 Ichthyosis, Congenital, Autosomal Recessive 2 ALOX12B DOID:0060710 glomerulocystic kidney disease with hyperuricemia and isosthenuria glomerulocystic_kidney_disease_with_hyperuricemia_and_isosthenuria Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria UMOD aicardi-goutieres syndrome 4 aicardi_goutieres_syndrome_4 Aicardi-Goutieres Syndrome 4 RNASEH2A deafness, autosomal recessive 9 deafness_autosomal_recessive_9 Deafness, Autosomal Recessive 9 OTOF DOID:0110535 alzheimer disease 3 alzheimer_disease_3 Alzheimer Disease 3 PSEN1 DOID:0110042 paragangliomas 1 paragangliomas_1 Paragangliomas 1 SDHD anemia, sideroblastic, 2, pyridoxine-refractory anemia_sideroblastic_2_pyridoxine_refractory Anemia, Sideroblastic, 2, Pyridoxine-Refractory SLC25A38 glucocorticoid deficiency 1 glucocorticoid_deficiency_1 Glucocorticoid Deficiency 1 MC2R diamond-blackfan anemia 10 diamond_blackfan_anemia_10 Diamond-Blackfan Anemia 10 RPS26 scalp-ear-nipple syndrome scalp_ear_nipple_syndrome_2 Scalp-Ear-Nipple Syndrome KCTD1 focal segmental glomerulosclerosis 9 focal_segmental_glomerulosclerosis_9 Focal Segmental Glomerulosclerosis 9 CRB2 DOID:0111134 senior-loken syndrome 9 senior_loken_syndrome_9 Senior-Loken Syndrome 9 TRAF3IP1 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness MITF smith-mccort dysplasia 2 smith_mccort_dysplasia_2_2 Smith-Mccort Dysplasia 2 RAB33B dowling-degos disease 4 dowling_degos_disease_4 Dowling-Degos Disease 4 POGLUT1 cryptorchidism, unilateral or bilateral cryptorchidism_unilateral_or_bilateral Cryptorchidism, Unilateral or Bilateral INSL3 DOID:11383 deafness, autosomal dominant 9 deafness_autosomal_dominant_9 Deafness, Autosomal Dominant 9 COCH DOID:0110593 mitchell-riley syndrome mitchell_riley_syndrome Mitchell-Riley Syndrome RFX6 van maldergem syndrome 2 van_maldergem_syndrome_2 Van Maldergem Syndrome 2 FAT4 short stature with microcephaly and distinctive facies short_stature_with_microcephaly_and_distinctive_facies Short Stature with Microcephaly and Distinctive Facies CRIPT hypoparathyroidism, familial isolated hypoparathyroidism_familial_isolated_2 Hypoparathyroidism, Familial Isolated GCM2 joubert syndrome 23 joubert_syndrome_23 Joubert Syndrome 23 KIAA0586 DOID:0110992 noonan syndrome 9 noonan_syndrome_9 Noonan Syndrome 9 SOS2 DOID:0060587 brachydactyly, type d brachydactyly_type_d_2 Brachydactyly, Type D HOXD13 DOID:0110971 spinocerebellar ataxia 19 spinocerebellar_ataxia_19 Spinocerebellar Ataxia 19 KCND3 carpenter syndrome 2 carpenter_syndrome_2 Carpenter Syndrome 2 MEGF8 leber congenital amaurosis 15 leber_congenital_amaurosis_15 Leber Congenital Amaurosis 15 TULP1 DOID:0110189 psychomotor retardation, epilepsy, and craniofacial dysmorphism psychomotor_retardation_epilepsy_and_craniofacial_dysmorphism Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism SNIP1 retinitis pigmentosa 20 retinitis_pigmentosa_20 Retinitis Pigmentosa 20 RPE65 DOID:0110353 abdominal obesity-metabolic syndrome 3 abdominal_obesity_metabolic_syndrome_3 Abdominal Obesity-Metabolic Syndrome 3 DYRK1B DOID:0060612 bone marrow failure syndrome 3 bone_marrow_failure_syndrome_3 Bone Marrow Failure Syndrome 3 DNAJC21 meckel syndrome, type 6 meckel_syndrome_type_6 Meckel Syndrome, Type 6 CC2D2A DOID:0070120 congenital heart defects, multiple types, 2 congenital_heart_defects_multiple_types_2 Congenital Heart Defects, Multiple Types, 2 TAB2 multiple synostoses syndrome 1 multiple_synostoses_syndrome_1 Multiple Synostoses Syndrome 1 NOG nephronophthisis-like nephropathy 1 nephronophthisis_like_nephropathy_1 Nephronophthisis-Like Nephropathy 1 XPNPEP3 DOID:0111117 focal segmental glomerulosclerosis 8 focal_segmental_glomerulosclerosis_8 Focal Segmental Glomerulosclerosis 8 ANLN DOID:0111133 mental retardation, x-linked 12 mental_retardation_x_linked_12 Mental Retardation, X-Linked 12 THOC2 hematuria, benign familial hematuria_benign_familial Hematuria, Benign Familial COL4A3 short qt syndrome 3 short_qt_syndrome_3 Short Qt Syndrome 3 KCNJ2 joubert syndrome 5 joubert_syndrome_5 Joubert Syndrome 5 CEP290 DOID:0111000 retinitis pigmentosa 7 retinitis_pigmentosa_7 Retinitis Pigmentosa 7 PRPH2 DOID:0110383 cataract 9, multiple types cataract_9_multiple_types Cataract 9, Multiple Types CRYAA DOID:0110266 premature ovarian failure 9 premature_ovarian_failure_9 Premature Ovarian Failure 9 HFM1 microphthalmia, isolated 8 microphthalmia_isolated_8_2 Microphthalmia, Isolated 8 ALDH1A3 DOID:0060841 thyroid dyshormonogenesis 1 thyroid_dyshormonogenesis_1 Thyroid Dyshormonogenesis 1 SLC5A5 deafness, autosomal recessive 12 deafness_autosomal_recessive_12 Deafness, Autosomal Recessive 12 CDH23 DOID:0110467 retinitis pigmentosa 62 retinitis_pigmentosa_62 Retinitis Pigmentosa 62 MAK DOID:0110380 atrial septal defect 3 atrial_septal_defect_3 Atrial Septal Defect 3 MYH6 DOID:0110108 paget disease of bone 6 paget_disease_of_bone_6 Paget Disease of Bone 6 ZNF687 focal segmental glomerulosclerosis 6 focal_segmental_glomerulosclerosis_6 Focal Segmental Glomerulosclerosis 6 MYO1E DOID:0111131 supranuclear palsy, progressive, 1 supranuclear_palsy_progressive_1 Supranuclear Palsy, Progressive, 1 MAPT DOID:678 meier-gorlin syndrome 3 meier_gorlin_syndrome_3 Meier-Gorlin Syndrome 3 ORC6 nephronophthisis 14 nephronophthisis_14 Nephronophthisis 14 ZNF423 DOID:0111122 leber congenital amaurosis 1 leber_congenital_amaurosis_1 Leber Congenital Amaurosis 1 GUCY2D DOID:0110078 premature ovarian failure 3 premature_ovarian_failure_3 Premature Ovarian Failure 3 FOXL2 microphthalmia, syndromic 2 microphthalmia_syndromic_2 Microphthalmia, Syndromic 2 BCOR cone-rod dystrophy 16 cone_rod_dystrophy_16 Cone-Rod Dystrophy 16 C8orf37 DOID:0111022 uv-sensitive syndrome 3 uv_sensitive_syndrome_3 Uv-Sensitive Syndrome 3 UVSSA joubert syndrome 8 joubert_syndrome_8 Joubert Syndrome 8 ARL13B DOID:0111003 deafness, autosomal recessive 86 deafness_autosomal_recessive_86 Deafness, Autosomal Recessive 86 TBC1D24 fetal akinesia deformation sequence fetal_akinesia_deformation_sequence Fetal Akinesia Deformation Sequence RAPSN leber congenital amaurosis 14 leber_congenital_amaurosis_14 Leber Congenital Amaurosis 14 LRAT DOID:0110188 axenfeld-rieger syndrome, type 1 axenfeld_rieger_syndrome_type_1_2 Axenfeld-Rieger Syndrome, Type 1 PITX2 DOID:0110120 bardet-biedl syndrome 21 bardet_biedl_syndrome_21 Bardet-Biedl Syndrome 21 C8orf37 brachydactyly, type e2 brachydactyly_type_e2 Brachydactyly, Type E2 PTHLH DOID:0110976 ciliary dyskinesia, primary, 2 ciliary_dyskinesia_primary_2 Ciliary Dyskinesia, Primary, 2 DNAAF3 DOID:0110626 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive MPZ DOID:0110195 deafness, autosomal recessive 29 deafness_autosomal_recessive_29 Deafness, Autosomal Recessive 29 CLDN14 DOID:0110487 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFAF5 DOID:0060536 heparin cofactor ii deficiency heparin_cofactor_ii_deficiency Heparin Cofactor Ii Deficiency SERPIND1 arrhythmogenic right ventricular dysplasia, familial, 2 arrhythmogenic_right_ventricular_dysplasia_familial_2 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 RYR2 DOID:0110071 deafness, autosomal dominant 56 deafness_autosomal_dominant_56 Deafness, Autosomal Dominant 56 TNC DOID:0110581 hypophosphatemic rickets, x-linked recessive hypophosphatemic_rickets_x_linked_recessive Hypophosphatemic Rickets, X-Linked Recessive CLCN5 meckel syndrome, type 5 meckel_syndrome_type_5 Meckel Syndrome, Type 5 RPGRIP1L DOID:0070119 fetal akinesia deformation sequence fetal_akinesia_deformation_sequence Fetal Akinesia Deformation Sequence MUSK deafness, autosomal recessive 28 deafness_autosomal_recessive_28 Deafness, Autosomal Recessive 28 TRIOBP DOID:0110486 gastric cancer gastric_cancer Gastric Cancer IRF1 DOID:5517 microphthalmia, syndromic 9 microphthalmia_syndromic_9_2 Microphthalmia, Syndromic 9 STRA6 DOID:0050819 retinitis pigmentosa 12 retinitis_pigmentosa_12 Retinitis Pigmentosa 12 CRB1 DOID:0110358 deafness, autosomal recessive 70 deafness_autosomal_recessive_70_2 Deafness, Autosomal Recessive 70 PNPT1 DOID:0110521 leber congenital amaurosis 4 leber_congenital_amaurosis_4 Leber Congenital Amaurosis 4 AIPL1 DOID:0110332 cone-rod dystrophy 7 cone_rod_dystrophy_7 Cone-Rod Dystrophy 7 RIMS1 DOID:0111012 leber congenital amaurosis 8 leber_congenital_amaurosis_8 Leber Congenital Amaurosis 8 CRB1 DOID:0110079 deafness, autosomal dominant 4b deafness_autosomal_dominant_4b_2 Deafness, Autosomal Dominant 4b CEACAM16 DOID:0110574 nephronophthisis 12 nephronophthisis_12 Nephronophthisis 12 TTC21B DOID:0111119 bardet-biedl syndrome 17 bardet_biedl_syndrome_17 Bardet-Biedl Syndrome 17 LZTFL1 DOID:0110139 nanophthalmos 4 nanophthalmos_4 Nanophthalmos 4 TMEM98 deafness, autosomal dominant 10 deafness_autosomal_dominant_10 Deafness, Autosomal Dominant 10 EYA4 DOID:0110542 deafness, autosomal recessive 18b deafness_autosomal_recessive_18b_2 Deafness, Autosomal Recessive 18b OTOG DOID:0110474 rapp-hodgkin syndrome rapp_hodgkin_syndrome Rapp-Hodgkin Syndrome TP63 DOID:0060330 seckel syndrome 2 seckel_syndrome_2 Seckel Syndrome 2 RBBP8 DOID:0070013 chilblain lupus 1 chilblain_lupus_1 Chilblain Lupus 1 TREX1 DOID:0060386 leber congenital amaurosis 2 leber_congenital_amaurosis_2 Leber Congenital Amaurosis 2 RPE65 DOID:0110016 stargardt disease 4 stargardt_disease_4 Stargardt Disease 4 PROM1 leber congenital amaurosis 13 leber_congenital_amaurosis_13 Leber Congenital Amaurosis 13 RDH12 DOID:0110330 arrhythmogenic right ventricular dysplasia, familial, 5 arrhythmogenic_right_ventricular_dysplasia_familial_5 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 TMEM43 DOID:0110074 deafness, autosomal dominant 13 deafness_autosomal_dominant_13 Deafness, Autosomal Dominant 13 COL11A2 DOID:0110545 hyperproinsulinemia hyperproinsulinemia Hyperproinsulinemia INS hyperparathyroidism 1 hyperparathyroidism_1 Hyperparathyroidism 1 CDC73 retinitis pigmentosa 43 retinitis_pigmentosa_43_2 Retinitis Pigmentosa 43 PDE6A DOID:0110379 retinitis pigmentosa 13 retinitis_pigmentosa_13 Retinitis Pigmentosa 13 PRPF8 DOID:0110403 nephronophthisis 13 nephronophthisis_13 Nephronophthisis 13 WDR19 DOID:0111121 epilepsy, nocturnal frontal lobe, 3 epilepsy_nocturnal_frontal_lobe_3 Epilepsy, Nocturnal Frontal Lobe, 3 CHRNB2 DOID:0060684 usher syndrome, type id usher_syndrome_type_id Usher Syndrome, Type Id CDH23 DOID:0110831 deafness, autosomal recessive 53 deafness_autosomal_recessive_53 Deafness, Autosomal Recessive 53 COL11A2 DOID:0110509 peho-like syndrome peho_like_syndrome Peho-Like Syndrome CCDC88A cataract 14, multiple types cataract_14_multiple_types Cataract 14, Multiple Types GJA3 DOID:0110253 lung cancer lung_cancer Lung Cancer SLC22A18 DOID:3908 retinitis pigmentosa 14 retinitis_pigmentosa_14 Retinitis Pigmentosa 14 TULP1 DOID:0110381 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 ectrodactyly_ectodermal_dysplasia_and_cleft_lip_palate_syndrome_3 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 TP63 DOID:0060783 split-hand/foot malformation 6 split_hand_foot_malformation_6 Split-Hand/foot Malformation 6 WNT10B DOID:0090026 holoprosencephaly 3 holoprosencephaly_3_2 Holoprosencephaly 3 SHH DOID:0110875 leber congenital amaurosis 6 leber_congenital_amaurosis_6 Leber Congenital Amaurosis 6 RPGRIP1 DOID:0110329 epidermolysis bullosa simplex with muscular dystrophy epidermolysis_bullosa_simplex_with_muscular_dystrophy Epidermolysis Bullosa Simplex with Muscular Dystrophy PLEC DOID:0090017 bardet-biedl syndrome 13 bardet_biedl_syndrome_13 Bardet-Biedl Syndrome 13 MKS1 DOID:0110135 holoprosencephaly 4 holoprosencephaly_4_2 Holoprosencephaly 4 TGIF1 DOID:0110880 deafness, autosomal recessive 84a deafness_autosomal_recessive_84a Deafness, Autosomal Recessive 84a PTPRQ DOID:0110529 schizencephaly schizencephaly Schizencephaly SIX3 holoprosencephaly 5 holoprosencephaly_5_2 Holoprosencephaly 5 ZIC2 DOID:0110878 colorblindness, partial, protan series colorblindness_partial_protan_series Colorblindness, Partial, Protan Series OPN1LW DOID:13910 lymphoproliferative syndrome 2 lymphoproliferative_syndrome_2 Lymphoproliferative Syndrome 2 CD27 DOID:0060708 amyotrophic lateral sclerosis 18 amyotrophic_lateral_sclerosis_18 Amyotrophic Lateral Sclerosis 18 PFN1 DOID:0060209 corneal dystrophy, posterior polymorphous, 2 corneal_dystrophy_posterior_polymorphous_2_2 Corneal Dystrophy, Posterior Polymorphous, 2 COL8A2 DOID:0110856 sclerosteosis 2 sclerosteosis_2 Sclerosteosis 2 LRP4 DOID:0060757 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFA1 DOID:0060536 hypotrichosis 7 hypotrichosis_7 Hypotrichosis 7 LIPH DOID:0110704 cardiomyopathy, dilated, 1x cardiomyopathy_dilated_1x Cardiomyopathy, Dilated, 1x FKTN DOID:0110444 cataract 18 cataract_18 Cataract 18 FYCO1 DOID:0110238 amyotrophic lateral sclerosis 19 amyotrophic_lateral_sclerosis_19 Amyotrophic Lateral Sclerosis 19 ERBB4 DOID:0060210 holoprosencephaly 7 holoprosencephaly_7_2 Holoprosencephaly 7 PTCH1 DOID:0110876 cataract 11, multiple types cataract_11_multiple_types Cataract 11, Multiple Types PITX3 DOID:0110249 retinitis pigmentosa 38 retinitis_pigmentosa_38_2 Retinitis Pigmentosa 38 MERTK DOID:0110367 deafness, autosomal dominant 64 deafness_autosomal_dominant_64_2 Deafness, Autosomal Dominant 64 DIABLO DOID:0110585 amyotrophic lateral sclerosis 9 amyotrophic_lateral_sclerosis_9 Amyotrophic Lateral Sclerosis 9 ANG DOID:0060200 amyotrophic lateral sclerosis 11 amyotrophic_lateral_sclerosis_11 Amyotrophic Lateral Sclerosis 11 FIG4 DOID:0060202 myasthenic syndrome, congenital, 10 myasthenic_syndrome_congenital_10 Myasthenic Syndrome, Congenital, 10 DOK7 DOID:0110668 sclerosteosis 1 sclerosteosis_1 Sclerosteosis 1 SOST DOID:0060756 orofaciodigital syndrome vi orofaciodigital_syndrome_vi Orofaciodigital Syndrome Vi CPLANE1 DOID:0060376 emery-dreifuss muscular dystrophy 4, autosomal dominant emery_dreifuss_muscular_dystrophy_4_autosomal_dominant Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant SYNE1 cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e SCN5A DOID:0110457 epilepsy, nocturnal frontal lobe, 5 epilepsy_nocturnal_frontal_lobe_5 Epilepsy, Nocturnal Frontal Lobe, 5 KCNT1 DOID:0060686 antley-bixler syndrome with genital anomalies and disordered steroidogenesis antley_bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis POR brown-vialetto-van laere syndrome 1 brown_vialetto_van_laere_syndrome_1 Brown-Vialetto-Van Laere Syndrome 1 SLC52A3 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency myasthenic_syndrome_congenital_9_associated_with_acetylcholine_receptor_deficiency Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency MUSK DOID:0110670 polycystic kidney disease 2 with or without polycystic liver disease polycystic_kidney_disease_2_with_or_without_polycystic_liver_disease Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease PKD2 DOID:0110859 bronchiectasis with or without elevated sweat chloride 1 bronchiectasis_with_or_without_elevated_sweat_chloride_1 Bronchiectasis with or Without Elevated Sweat Chloride 1 SCNN1B hypercholesterolemia, autosomal dominant, type b hypercholesterolemia_autosomal_dominant_type_b Hypercholesterolemia, Autosomal Dominant, Type B APOB transposition of the great arteries, dextro-looped 1 transposition_of_the_great_arteries_dextro_looped_1 Transposition of the Great Arteries, Dextro-Looped 1 MED13L DOID:0060771 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_3 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency myasthenic_syndrome_congenital_11_associated_with_acetylcholine_receptor_deficiency Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency RAPSN DOID:0110675 mitochondrial dna depletion syndrome 1 mitochondrial_dna_depletion_syndrome_1_mngie_type Mitochondrial Dna Depletion Syndrome 1 TYMP DOID:0080119 histiocytosis-lymphadenopathy plus syndrome histiocytosis_lymphadenopathy_plus_syndrome Histiocytosis-Lymphadenopathy Plus Syndrome SLC29A3 myasthenic syndrome, congenital, 4a, slow-channel myasthenic_syndrome_congenital_4a_slow_channel Myasthenic Syndrome, Congenital, 4a, Slow-Channel CHRNE DOID:0110678 fanconi anemia, complementation group q fanconi_anemia_complementation_group_q Fanconi Anemia, Complementation Group Q ERCC4 DOID:0111093 granulomatous disease, chronic, x-linked granulomatous_disease_chronic_x_linked Granulomatous Disease, Chronic, X-Linked CYBB epileptic encephalopathy, early infantile, 27 epileptic_encephalopathy_early_infantile_27 Epileptic Encephalopathy, Early Infantile, 27 GRIN2B frontotemporal dementia and/or amyotrophic lateral sclerosis 4 frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_4 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 TBK1 DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_3 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 SQSTM1 DOID:0110068 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency disordered_steroidogenesis_due_to_cytochrome_p450_oxidoreductase_deficiency Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency POR epileptic encephalopathy, early infantile, 53 epileptic_encephalopathy_early_infantile_53 Epileptic Encephalopathy, Early Infantile, 53 SYNJ1 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia amyotrophic_lateral_sclerosis_15_with_or_without_frontotemporal_dementia_2 Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia UBQLN2 myasthenic syndrome, congenital, 8 myasthenic_syndrome_congenital_8 Myasthenic Syndrome, Congenital, 8 AGRN DOID:0110657 46,xy sex reversal 9 46xy_sex_reversal_9 46,xy Sex Reversal 9 ZFPM2 reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset reducing_body_myopathy_x_linked_1a_severe_with_infantile_or_early_childhood_onset Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset FHL1 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_4 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 PARN 46,xy sex reversal 1 46xy_sex_reversal_1_2 46,xy Sex Reversal 1 SRY epileptic encephalopathy, early infantile, 30 epileptic_encephalopathy_early_infantile_30 Epileptic Encephalopathy, Early Infantile, 30 SIK1 thrombophilia due to protein s deficiency, autosomal recessive thrombophilia_due_to_protein_s_deficiency_autosomal_recessive Thrombophilia Due to Protein S Deficiency, Autosomal Recessive PROS1 parkinson disease 20, early-onset parkinson_disease_20_early_onset Parkinson Disease 20, Early-Onset SYNJ1 DOID:0060898 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive GDAP1 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia GNRHR DOID:0090078 epileptic encephalopathy, early infantile, 25 epileptic_encephalopathy_early_infantile_25 Epileptic Encephalopathy, Early Infantile, 25 SLC13A5 short-rib thoracic dysplasia 10 with or without polydactyly short_rib_thoracic_dysplasia_10_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly IFT172 DOID:0110091 arthropathy, progressive pseudorheumatoid, of childhood arthropathy_progressive_pseudorheumatoid_of_childhood Arthropathy, Progressive Pseudorheumatoid, of Childhood WISP3 DOID:0090004 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG atrioventricular septal defect 4 atrioventricular_septal_defect_4 Atrioventricular Septal Defect 4 GATA4 short-rib thoracic dysplasia 8 with or without polydactyly short_rib_thoracic_dysplasia_8_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly WDR60 DOID:0110094 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia amyotrophic_lateral_sclerosis_22_with_or_without_frontotemporal_dementia Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia TUBA4A aortic aneurysm, familial thoracic 8 aortic_aneurysm_familial_thoracic_8 Aortic Aneurysm, Familial Thoracic 8 PRKG1 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies_2 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 UNC80 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive ectodermal_dysplasia_11b_hypohidrotic_hair_tooth_type_autosomal_recessive Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive EDARADD chondrodysplasia punctata 1, x-linked recessive chondrodysplasia_punctata_1_x_linked_recessive Chondrodysplasia Punctata 1, X-Linked Recessive ARSE cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 cardioencephalomyopathy_fatal_infantile_due_to_cytochrome_c_oxidase_deficiency_4 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 COA6 cornelia de lange syndrome 5 cornelia_de_lange_syndrome_5 Cornelia De Lange Syndrome 5 HDAC8 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism leukodystrophy_hypomyelinating_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism POLR3B DOID:0060797 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis cardiomyopathy_dilated_with_woolly_hair_keratoderma_and_tooth_agenesis Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis DSP pituitary hormone deficiency, combined, 1 pituitary_hormone_deficiency_combined_1_2 Pituitary Hormone Deficiency, Combined, 1 POU1F1 short-rib thoracic dysplasia 13 with or without polydactyly short_rib_thoracic_dysplasia_13_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly CEP120 DOID:0110093 carney complex, type 1 carney_complex_type_1 Carney Complex, Type 1 PRKAR1A acrodysostosis 2 with or without hormone resistance acrodysostosis_2_with_or_without_hormone_resistance_2 Acrodysostosis 2 with or Without Hormone Resistance PDE4D bethlem myopathy 2 bethlem_myopathy_2 Bethlem Myopathy 2 COL12A1 erythrokeratodermia variabilis et progressiva 2 erythrokeratodermia_variabilis_et_progressiva_2 Erythrokeratodermia Variabilis Et Progressiva 2 GJB4 DOID:0080248 corneal dystrophy, fuchs endothelial, 4 corneal_dystrophy_fuchs_endothelial_4 Corneal Dystrophy, Fuchs Endothelial, 4 SLC4A11 basal ganglia calcification, idiopathic, 4 basal_ganglia_calcification_idiopathic_4 Basal Ganglia Calcification, Idiopathic, 4 PDGFRB maturity-onset diabetes of the young, type 1 maturity_onset_diabetes_of_the_young_type_1 Maturity-Onset Diabetes of the Young, Type 1 HNF4A DOID:0111099 renal tubular acidosis, distal, with progressive nerve deafness renal_tubular_acidosis_distal_with_progressive_nerve_deafness Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness ATP6V1B1 myasthenic syndrome, congenital, 4b, fast-channel myasthenic_syndrome_congenital_4b_fast_channel Myasthenic Syndrome, Congenital, 4b, Fast-Channel CHRNE DOID:0110677 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 spastic paraplegia 78, autosomal recessive spastic_paraplegia_78_autosomal_recessive Spastic Paraplegia 78, Autosomal Recessive ATP13A2 tooth agenesis, selective, 4 tooth_agenesis_selective_4 Tooth Agenesis, Selective, 4 WNT10A myasthenic syndrome, congenital, 20, presynaptic myasthenic_syndrome_congenital_20_presynaptic Myasthenic Syndrome, Congenital, 20, Presynaptic SLC5A7 DOID:0110661 epilepsy, early-onset, vitamin b6-dependent epilepsy_early_onset_vitamin_b6_dependent Epilepsy, Early-Onset, Vitamin B6-Dependent PLPBP hypokalemic periodic paralysis, type 2 hypokalemic_periodic_paralysis_type_2_2 Hypokalemic Periodic Paralysis, Type 2 SCN4A leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFA9 DOID:3652 myasthenic syndrome, congenital, 3b, fast-channel myasthenic_syndrome_congenital_3b_fast_channel Myasthenic Syndrome, Congenital, 3b, Fast-Channel CHRND DOID:0110665 acrodysostosis 1 with or without hormone resistance acrodysostosis_1_with_or_without_hormone_resistance_2 Acrodysostosis 1 with or Without Hormone Resistance PRKAR1A cornelia de lange syndrome 4 cornelia_de_lange_syndrome_4 Cornelia De Lange Syndrome 4 RAD21 pick disease of brain pick_disease_of_brain Pick Disease of Brain MAPT DOID:11870 atrial septal defect 5 atrial_septal_defect_5 Atrial Septal Defect 5 ACTC1 DOID:0110110 spondyloenchondrodysplasia with immune dysregulation spondyloenchondrodysplasia_with_immune_dysregulation Spondyloenchondrodysplasia with Immune Dysregulation ACP5 diamond-blackfan anemia 1 diamond_blackfan_anemia_1 Diamond-Blackfan Anemia 1 RPS19 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy encephalopathy_progressive_early_onset_with_brain_edema_and_or_leukoencephalopathy Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy NAXE fibrosis of extraocular muscles, congenital, 1 fibrosis_of_extraocular_muscles_congenital_1 Fibrosis of Extraocular Muscles, Congenital, 1 KIF21A neutropenia, severe congenital, 4, autosomal recessive neutropenia_severe_congenital_4_autosomal_recessive_2 Neutropenia, Severe Congenital, 4, Autosomal Recessive G6PC3 spondyloepiphyseal dysplasia tarda, x-linked spondyloepiphyseal_dysplasia_tarda_x_linked Spondyloepiphyseal Dysplasia Tarda, X-Linked TRAPPC2 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 cardioencephalomyopathy_fatal_infantile_due_to_cytochrome_c_oxidase_deficiency_2 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 COX15 dyschromatosis universalis hereditaria 3 dyschromatosis_universalis_hereditaria_3 Dyschromatosis Universalis Hereditaria 3 ABCB6 epileptic encephalopathy, early infantile, 44 epileptic_encephalopathy_early_infantile_44 Epileptic Encephalopathy, Early Infantile, 44 UBA5 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 megalencephaly_polymicrogyria_polydactyly_hydrocephalus_syndrome_2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 AKT3 ventricular tachycardia, catecholaminergic polymorphic, 2 ventricular_tachycardia_catecholaminergic_polymorphic_2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 CASQ2 DOID:0060676 corneal dystrophy, fuchs endothelial, 6 corneal_dystrophy_fuchs_endothelial_6 Corneal Dystrophy, Fuchs Endothelial, 6 ZEB1 atrioventricular septal defect 5 atrioventricular_septal_defect_5 Atrioventricular Septal Defect 5 GATA6 arthrogryposis, distal, with impaired proprioception and touch arthrogryposis_distal_with_impaired_proprioception_and_touch Arthrogryposis, Distal, with Impaired Proprioception and Touch PIEZO2 paroxysmal nocturnal hemoglobinuria 1 paroxysmal_nocturnal_hemoglobinuria_1 Paroxysmal Nocturnal Hemoglobinuria 1 PIGA van der woude syndrome 2 van_der_woude_syndrome_2 Van Der Woude Syndrome 2 GRHL3 epileptic encephalopathy, early infantile, 32 epileptic_encephalopathy_early_infantile_32 Epileptic Encephalopathy, Early Infantile, 32 KCNA2 cowden syndrome 6 cowden_syndrome_6 Cowden Syndrome 6 AKT1 epilepsy, familial focal, with variable foci 2 epilepsy_familial_focal_with_variable_foci_2_2 Epilepsy, Familial Focal, with Variable Foci 2 NPRL2 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 hypertrophic_osteoarthropathy_primary_autosomal_recessive_2 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 SLCO2A1 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_2 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 MECOM hennekam lymphangiectasia-lymphedema syndrome 2 hennekam_lymphangiectasia_lymphedema_syndrome_2 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 FAT4 ciliary dyskinesia, primary, 33 ciliary_dyskinesia_primary_33 Ciliary Dyskinesia, Primary, 33 GAS8 DOID:0110619 intellectual developmental disorder with persistence of fetal hemoglobin intellectual_developmental_disorder_with_persistence_of_fetal_hemoglobin Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin BCL11A colorblindness, partial, deutan series colorblindness_partial_deutan_series Colorblindness, Partial, Deutan Series OPN1MW corneal dystrophy, fuchs endothelial, 1 corneal_dystrophy_fuchs_endothelial_1_2 Corneal Dystrophy, Fuchs Endothelial, 1 COL8A2 cortical dysplasia, complex, with other brain malformations 4 cortical_dysplasia_complex_with_other_brain_malformations_4 Cortical Dysplasia, Complex, with Other Brain Malformations 4 TUBG1 DOID:0090138 nemaline myopathy 10 nemaline_myopathy_10 Nemaline Myopathy 10 LMOD3 DOID:0110931 bronchiectasis with or without elevated sweat chloride 2 bronchiectasis_with_or_without_elevated_sweat_chloride_2 Bronchiectasis with or Without Elevated Sweat Chloride 2 SCNN1A congenital heart defects, multiple types, 4 congenital_heart_defects_multiple_types_4 Congenital Heart Defects, Multiple Types, 4 NR2F2 baraitser-winter syndrome 2 baraitser_winter_syndrome_2 Baraitser-Winter Syndrome 2 ACTG1 cutis laxa, autosomal dominant 3 cutis_laxa_autosomal_dominant_3 Cutis Laxa, Autosomal Dominant 3 ALDH18A1 DOID:0070131 hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic_hypogonadism_11_with_or_without_anosmia Hypogonadotropic Hypogonadism 11 with or Without Anosmia TACR3 DOID:0090071 klippel-feil syndrome 1, autosomal dominant klippel_feil_syndrome_1_autosomal_dominant Klippel-Feil Syndrome 1, Autosomal Dominant GDF6 aortic aneurysm, familial thoracic 10 aortic_aneurysm_familial_thoracic_10 Aortic Aneurysm, Familial Thoracic 10 LOX basal ganglia calcification, idiopathic, 6 basal_ganglia_calcification_idiopathic_6 Basal Ganglia Calcification, Idiopathic, 6 XPR1 ciliary dyskinesia, primary, 19 ciliary_dyskinesia_primary_19 Ciliary Dyskinesia, Primary, 19 LRRC6 DOID:0110608 erythrokeratodermia variabilis et progressiva 3 erythrokeratodermia_variabilis_et_progressiva_3 Erythrokeratodermia Variabilis Et Progressiva 3 GJA1 DOID:0080249 epileptic encephalopathy, early infantile, 43 epileptic_encephalopathy_early_infantile_43 Epileptic Encephalopathy, Early Infantile, 43 GABRB3 pachyonychia congenita 3 pachyonychia_congenita_3 Pachyonychia Congenita 3 KRT6A singleton-merten syndrome 1 singleton_merten_syndrome_1 Singleton-Merten Syndrome 1 IFIH1 short-rib thoracic dysplasia 16 with or without polydactyly short_rib_thoracic_dysplasia_16_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly IFT52 thyroid dyshormonogenesis 2a thyroid_dyshormonogenesis_2a Thyroid Dyshormonogenesis 2a TPO diabetes mellitus, insulin-dependent, 20 diabetes_mellitus_insulin_dependent_20 Diabetes Mellitus, Insulin-Dependent, 20 HNF1A DOID:0110757 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young fanconi_renotubular_syndrome_4_with_maturity_onset_diabetes_of_the_young_2 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young HNF4A choroidal dystrophy, central areolar 2 choroidal_dystrophy_central_areolar_2 Choroidal Dystrophy, Central Areolar 2 PRPH2 jervell and lange-nielsen syndrome 2 jervell_and_lange_nielsen_syndrome_2 Jervell and Lange-Nielsen Syndrome 2 KCNE1 glaucoma, primary open angle glaucoma_primary_open_angle Glaucoma, Primary Open Angle OPTN DOID:1070 atrial fibrillation, familial, 10 atrial_fibrillation_familial_10 Atrial Fibrillation, Familial, 10 SCN5A hypotonia, infantile, with psychomotor retardation and characteristic facies 1 hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies_1 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 NALCN migraine, familial hemiplegic, 1 migraine_familial_hemiplegic_1 Migraine, Familial Hemiplegic, 1 CACNA1A bleeding disorder, platelet-type, 21 bleeding_disorder_platelet_type_21 Bleeding Disorder, Platelet-Type, 21 FLI1 emery-dreifuss muscular dystrophy 7, autosomal dominant emery_dreifuss_muscular_dystrophy_7_autosomal_dominant Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant TMEM43 coenzyme q10 deficiency, primary, 1 coenzyme_q10_deficiency_primary_1 Coenzyme Q10 Deficiency, Primary, 1 COQ2 mental retardation, autosomal dominant 13 mental_retardation_autosomal_dominant_13 Mental Retardation, Autosomal Dominant 13 DYNC1H1 DOID:0070043 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome GMPPA epileptic encephalopathy, early infantile, 24 epileptic_encephalopathy_early_infantile_24 Epileptic Encephalopathy, Early Infantile, 24 HCN1 persistent hyperplastic primary vitreous, autosomal recessive persistent_hyperplastic_primary_vitreous_autosomal_recessive Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ATOH7 aortic valve disease 2 aortic_valve_disease_2 Aortic Valve Disease 2 SMAD6 DOID:1712 osteopetrosis, autosomal recessive 4 osteopetrosis_autosomal_recessive_4_2 Osteopetrosis, Autosomal Recessive 4 CLCN7 DOID:0110944 peroxisome biogenesis disorder 6b peroxisome_biogenesis_disorder_6b Peroxisome Biogenesis Disorder 6b PEX10 hyperphosphatasia with mental retardation syndrome 4 hyperphosphatasia_with_mental_retardation_syndrome_4 Hyperphosphatasia with Mental Retardation Syndrome 4 PGAP3 atrial fibrillation, familial, 14 atrial_fibrillation_familial_14 Atrial Fibrillation, Familial, 14 SCN2B deafness, autosomal recessive 36, with or without vestibular involvement deafness_autosomal_recessive_36_with_or_without_vestibular_involvement Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement ESPN spondylocostal dysostosis 1, autosomal recessive spondylocostal_dysostosis_1_autosomal_recessive Spondylocostal Dysostosis 1, Autosomal Recessive DLL3 mental retardation, x-linked 99 mental_retardation_x_linked_99 Mental Retardation, X-Linked 99 USP9X frontotemporal dementia, chromosome 3-linked frontotemporal_dementia_chromosome_3_linked Frontotemporal Dementia, Chromosome 3-Linked CHMP2B 46,xx sex reversal 4 46xx_sex_reversal_4 46,xx Sex Reversal 4 NR5A1 myasthenic syndrome, congenital, 1b, fast-channel myasthenic_syndrome_congenital_1b_fast_channel Myasthenic Syndrome, Congenital, 1b, Fast-Channel CHRNA1 DOID:0110662 cortical dysplasia, complex, with other brain malformations 3 cortical_dysplasia_complex_with_other_brain_malformations_3 Cortical Dysplasia, Complex, with Other Brain Malformations 3 KIF2A DOID:0090134 mitochondrial complex iii deficiency, nuclear type 8 mitochondrial_complex_iii_deficiency_nuclear_type_8 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 LYRM7 DOID:0080117 optic atrophy 10 with or without ataxia, mental retardation, and seizures optic_atrophy_10_with_or_without_ataxia_mental_retardation_and_seizures Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures RTN4IP1 periventricular nodular heterotopia 7 periventricular_nodular_heterotopia_7 Periventricular Nodular Heterotopia 7 NEDD4L tremor, hereditary essential, 5 tremor_hereditary_essential_5 Tremor, Hereditary Essential, 5 TENM4 cataract 6, multiple types cataract_6_multiple_types Cataract 6, Multiple Types EPHA2 DOID:0110229 cortical dysplasia, complex, with other brain malformations 2 cortical_dysplasia_complex_with_other_brain_malformations_2 Cortical Dysplasia, Complex, with Other Brain Malformations 2 KIF5C DOID:0090133 nemaline myopathy 6 nemaline_myopathy_6 Nemaline Myopathy 6 KBTBD13 DOID:0110935 parkinson disease 23, autosomal recessive early-onset parkinson_disease_23_autosomal_recessive_early_onset_2 Parkinson Disease 23, Autosomal Recessive Early-Onset VPS13C DOID:0060896 hennekam lymphangiectasia-lymphedema syndrome 1 hennekam_lymphangiectasia_lymphedema_syndrome_1 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 CCBE1 parkinson disease 19a, juvenile-onset parkinson_disease_19a_juvenile_onset Parkinson Disease 19a, Juvenile-Onset DNAJC6 DOID:0060891 adams-oliver syndrome 6 adams_oliver_syndrome_6_2 Adams-Oliver Syndrome 6 DLL4 advanced sleep phase syndrome, familial, 2 advanced_sleep_phase_syndrome_familial_2_2 Advanced Sleep Phase Syndrome, Familial, 2 CSNK1D dyskeratosis congenita, autosomal recessive 6 dyskeratosis_congenita_autosomal_recessive_6 Dyskeratosis Congenita, Autosomal Recessive 6 PARN DOID:0070024 short-rib thoracic dysplasia 4 with or without polydactyly short_rib_thoracic_dysplasia_4_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly TTC21B DOID:0110088 hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic_hypogonadism_14_with_or_without_anosmia Hypogonadotropic Hypogonadism 14 with or Without Anosmia WDR11 DOID:0090087 microcephaly, short stature, and impaired glucose metabolism 1 microcephaly_short_stature_and_impaired_glucose_metabolism_1 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 TRMT10A brugada syndrome 4 brugada_syndrome_4 Brugada Syndrome 4 CACNB2 DOID:0110221 ciliary dyskinesia, primary, 7 ciliary_dyskinesia_primary_7 Ciliary Dyskinesia, Primary, 7 DNAH11 DOID:0110605 ehlers-danlos syndrome, musculocontractural type, 2 ehlers_danlos_syndrome_musculocontractural_type_2_2 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 DSE erythrokeratodermia variabilis et progressiva 4 erythrokeratodermia_variabilis_et_progressiva_4 Erythrokeratodermia Variabilis Et Progressiva 4 KDSR DOID:0080250 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_4 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 ichthyosis, congenital, autosomal recessive 4a ichthyosis_congenital_autosomal_recessive_4a Ichthyosis, Congenital, Autosomal Recessive 4a ABCA12 DOID:0060712 atrial septal defect 2 atrial_septal_defect_2_2 Atrial Septal Defect 2 GATA4 DOID:0110107 cataract 13 with adult i phenotype cataract_13_with_adult_i_phenotype Cataract 13 with Adult I Phenotype GCNT2 DOID:0110242 popliteal pterygium syndrome, lethal type popliteal_pterygium_syndrome_lethal_type_2 Popliteal Pterygium Syndrome, Lethal Type RIPK4 acromesomelic dysplasia, demirhan type acromesomelic_dysplasia_demirhan_type Acromesomelic Dysplasia, Demirhan Type BMPR1B heterotaxy, visceral, 1, x-linked heterotaxy_visceral_1_x_linked Heterotaxy, Visceral, 1, X-Linked ZIC3 vitamin k-dependent clotting factors, combined deficiency of, 2 vitamin_k_dependent_clotting_factors_combined_deficiency_of_2 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 VKORC1 white sponge nevus 2 white_sponge_nevus_2 White Sponge Nevus 2 KRT13 d-2-hydroxyglutaric aciduria 2 d_2_hydroxyglutaric_aciduria_2 D-2-Hydroxyglutaric Aciduria 2 IDH2 ayme-gripp syndrome ayme_gripp_syndrome Ayme-Gripp Syndrome MAF ciliary dyskinesia, primary, 22 ciliary_dyskinesia_primary_22 Ciliary Dyskinesia, Primary, 22 ZMYND10 DOID:0110597 ciliary dyskinesia, primary, 16 ciliary_dyskinesia_primary_16 Ciliary Dyskinesia, Primary, 16 DNAL1 DOID:0110613 dyskeratosis congenita, autosomal dominant 3 dyskeratosis_congenita_autosomal_dominant_3 Dyskeratosis Congenita, Autosomal Dominant 3 TINF2 DOID:0070018 premature ovarian failure 5 premature_ovarian_failure_5 Premature Ovarian Failure 5 NOBOX precocious puberty, central, 2 precocious_puberty_central_2 Precocious Puberty, Central, 2 MKRN3 46,xy sex reversal 6 46xy_sex_reversal_6 46,xy Sex Reversal 6 MAP3K1 amyloidosis, primary localized cutaneous, 1 amyloidosis_primary_localized_cutaneous_1 Amyloidosis, Primary Localized Cutaneous, 1 OSMR epileptic encephalopathy, early infantile, 51 epileptic_encephalopathy_early_infantile_51 Epileptic Encephalopathy, Early Infantile, 51 MDH2 cataract 15, multiple types cataract_15_multiple_types Cataract 15, Multiple Types MIP DOID:0110251 sclerosing cholangitis, neonatal sclerosing_cholangitis_neonatal Sclerosing Cholangitis, Neonatal DCDC2 tremor, hereditary essential, 4 tremor_hereditary_essential_4_2 Tremor, Hereditary Essential, 4 FUS myopia, high, with cataract and vitreoretinal degeneration myopia_high_with_cataract_and_vitreoretinal_degeneration Myopia, High, with Cataract and Vitreoretinal Degeneration P3H2 peroxisome biogenesis disorder 4a peroxisome_biogenesis_disorder_4a Peroxisome Biogenesis Disorder 4a PEX6 peroxisome biogenesis disorder 7a peroxisome_biogenesis_disorder_7a Peroxisome Biogenesis Disorder 7a PEX26 corneal dystrophy, fuchs endothelial, 8 corneal_dystrophy_fuchs_endothelial_8 Corneal Dystrophy, Fuchs Endothelial, 8 AGBL1 leukodystrophy, hypomyelinating, 11 leukodystrophy_hypomyelinating_11 Leukodystrophy, Hypomyelinating, 11 POLR1C DOID:0060792 myopathy, tubular aggregate, 2 myopathy_tubular_aggregate_2 Myopathy, Tubular Aggregate, 2 ORAI1 peroxisome biogenesis disorder 3a peroxisome_biogenesis_disorder_3a Peroxisome Biogenesis Disorder 3a PEX12 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 cerebellar_ataxia_mental_retardation_and_dysequilibrium_syndrome_2 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 WDR81 hyperphosphatasia with mental retardation syndrome 3 hyperphosphatasia_with_mental_retardation_syndrome_3 Hyperphosphatasia with Mental Retardation Syndrome 3 PGAP2 hypophosphatemic rickets, autosomal recessive, 2 hypophosphatemic_rickets_autosomal_recessive_2_2 Hypophosphatemic Rickets, Autosomal Recessive, 2 ENPP1 spongiform encephalopathy with neuropsychiatric features spongiform_encephalopathy_with_neuropsychiatric_features Spongiform Encephalopathy with Neuropsychiatric Features PRNP cone-rod dystrophy 13 cone_rod_dystrophy_13 Cone-Rod Dystrophy 13 RPGRIP1 DOID:0111016 epileptic encephalopathy, early infantile, 41 epileptic_encephalopathy_early_infantile_41 Epileptic Encephalopathy, Early Infantile, 41 SLC1A2 heterotaxy, visceral, 4, autosomal heterotaxy_visceral_4_autosomal Heterotaxy, Visceral, 4, Autosomal ACVR2B night blindness, congenital stationary, autosomal dominant 1 night_blindness_congenital_stationary_autosomal_dominant_1 Night Blindness, Congenital Stationary, Autosomal Dominant 1 RHO DOID:0110862 ehlers-danlos syndrome, periodontal type, 2 ehlers_danlos_syndrome_periodontal_type_2_2 Ehlers-Danlos Syndrome, Periodontal Type, 2 C1S geleophysic dysplasia 1 geleophysic_dysplasia_1 Geleophysic Dysplasia 1 ADAMTSL2 night blindness, congenital stationary, type 2a night_blindness_congenital_stationary_type_2a Night Blindness, Congenital Stationary, Type 2a CACNA1F DOID:0110871 tooth agenesis, selective, 3 tooth_agenesis_selective_3 Tooth Agenesis, Selective, 3 PAX9 atrial fibrillation, familial, 11 atrial_fibrillation_familial_11 Atrial Fibrillation, Familial, 11 GJA5 microcephaly, short stature, and impaired glucose metabolism 2 microcephaly_short_stature_and_impaired_glucose_metabolism_2 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 PPP1R15B myopia 21, autosomal dominant myopia_21_autosomal_dominant Myopia 21, Autosomal Dominant ZNF644 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis polymicrogyria_perisylvian_with_cerebellar_hypoplasia_and_arthrogryposis Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis PI4KA ventricular septal defect 1 ventricular_septal_defect_1 Ventricular Septal Defect 1 GATA4 dyskeratosis congenita, autosomal recessive 3 dyskeratosis_congenita_autosomal_recessive_3 Dyskeratosis Congenita, Autosomal Recessive 3 WRAP53 DOID:0070019 hypotrichosis-lymphedema-telangiectasia syndrome hypotrichosis_lymphedema_telangiectasia_syndrome Hypotrichosis-Lymphedema-Telangiectasia Syndrome SOX18 peroxisome biogenesis disorder 7b peroxisome_biogenesis_disorder_7b Peroxisome Biogenesis Disorder 7b PEX26 short-rib thoracic dysplasia 2 with or without polydactyly short_rib_thoracic_dysplasia_2_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly IFT80 DOID:0110086 erythrocytosis, familial, 3 erythrocytosis_familial_3 Erythrocytosis, Familial, 3 EGLN1 myasthenic syndrome, congenital, 14 myasthenic_syndrome_congenital_14 Myasthenic Syndrome, Congenital, 14 ALG2 DOID:0110669 weill-marchesani syndrome 1 weill_marchesani_syndrome_1 Weill-Marchesani Syndrome 1 ADAMTS10 ciliary dyskinesia, primary, 29 ciliary_dyskinesia_primary_29 Ciliary Dyskinesia, Primary, 29 CCNO DOID:0110600 cortisone reductase deficiency 1 cortisone_reductase_deficiency_1 Cortisone Reductase Deficiency 1 H6PD DOID:0090141 sick sinus syndrome 1 sick_sinus_syndrome_1 Sick Sinus Syndrome 1 SCN5A bleeding disorder, platelet-type, 15 bleeding_disorder_platelet_type_15 Bleeding Disorder, Platelet-Type, 15 ACTN1 DOID:0111053 cataract 33, multiple types cataract_33_multiple_types Cataract 33, Multiple Types BFSP1 complement component 7 deficiency complement_component_7_deficiency Complement Component 7 Deficiency C7 DOID:0060300 focal segmental glomerulosclerosis 7 focal_segmental_glomerulosclerosis_7 Focal Segmental Glomerulosclerosis 7 PAX2 DOID:0111132 immunoskeletal dysplasia with neurodevelopmental abnormalities immunoskeletal_dysplasia_with_neurodevelopmental_abnormalities Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities EXTL3 migraine, familial hemiplegic, 2 migraine_familial_hemiplegic_2 Migraine, Familial Hemiplegic, 2 ATP1A2 hemochromatosis, type 2a hemochromatosis_type_2a Hemochromatosis, Type 2a HJV DOID:0111027 meier-gorlin syndrome 4 meier_gorlin_syndrome_4 Meier-Gorlin Syndrome 4 CDT1 retinitis pigmentosa 71 retinitis_pigmentosa_71 Retinitis Pigmentosa 71 IFT172 DOID:0110363 epilepsy, familial temporal lobe, 5 epilepsy_familial_temporal_lobe_5 Epilepsy, Familial Temporal Lobe, 5 CPA6 DOID:0060752 leber congenital amaurosis 17 leber_congenital_amaurosis_17 Leber Congenital Amaurosis 17 GDF6 DOID:0110217 premature ovarian failure 7 premature_ovarian_failure_7 Premature Ovarian Failure 7 NR5A1 autoimmune disease, multisystem, infantile-onset, 2 autoimmune_disease_multisystem_infantile_onset_2 Autoimmune Disease, Multisystem, Infantile-Onset, 2 ZAP70 microcephaly 17, primary, autosomal recessive microcephaly_17_primary_autosomal_recessive Microcephaly 17, Primary, Autosomal Recessive CIT senior-loken syndrome 4 senior_loken_syndrome_4 Senior-Loken Syndrome 4 NPHP4 amyotrophic lateral sclerosis 17 amyotrophic_lateral_sclerosis_17 Amyotrophic Lateral Sclerosis 17 CHMP2B DOID:0060208 cyanosis, transient neonatal cyanosis_transient_neonatal Cyanosis, Transient Neonatal HBG2 epileptic encephalopathy, early infantile, 52 epileptic_encephalopathy_early_infantile_52 Epileptic Encephalopathy, Early Infantile, 52 SCN1B mental retardation, x-linked 49 mental_retardation_x_linked_49_2 Mental Retardation, X-Linked 49 CLCN4 mental retardation, x-linked 96 mental_retardation_x_linked_96 Mental Retardation, X-Linked 96 SYP hyperphenylalaninemia, mild, non-bh4-deficient hyperphenylalaninemia_mild_non_bh4_deficient Hyperphenylalaninemia, Mild, Non-Bh4-Deficient DNAJC12 lethal congenital contracture syndrome 7 lethal_congenital_contracture_syndrome_7 Lethal Congenital Contracture Syndrome 7 CNTNAP1 night blindness, congenital stationary, autosomal dominant 3 night_blindness_congenital_stationary_autosomal_dominant_3 Night Blindness, Congenital Stationary, Autosomal Dominant 3 GNAT1 DOID:0110715 treacher collins syndrome 2 treacher_collins_syndrome_2 Treacher Collins Syndrome 2 POLR1D loeys-dietz syndrome 5 loeys_dietz_syndrome_5 Loeys-Dietz Syndrome 5 TGFB3 macular dystrophy with central cone involvement macular_dystrophy_with_central_cone_involvement Macular Dystrophy with Central Cone Involvement MFSD8 mental retardation, autosomal recessive 46 mental_retardation_autosomal_recessive_46 Mental Retardation, Autosomal Recessive 46 NDST1 ciliary dyskinesia, primary, 11 ciliary_dyskinesia_primary_11 Ciliary Dyskinesia, Primary, 11 RSPH4A DOID:0110602 macular dystrophy, patterned, 1 macular_dystrophy_patterned_1 Macular Dystrophy, Patterned, 1 PRPH2 DOID:0060866 cone-rod dystrophy 19 cone_rod_dystrophy_19 Cone-Rod Dystrophy 19 TTLL5 DOID:0111025 hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic_hypogonadism_10_with_or_without_anosmia Hypogonadotropic Hypogonadism 10 with or Without Anosmia TAC3 DOID:0090089 spermatogenic failure, x-linked, 2 spermatogenic_failure_x_linked_2 Spermatogenic Failure, X-Linked, 2 TEX11 aortic aneurysm, familial thoracic 9 aortic_aneurysm_familial_thoracic_9 Aortic Aneurysm, Familial Thoracic 9 MFAP5 epileptic encephalopathy, early infantile, 45 epileptic_encephalopathy_early_infantile_45 Epileptic Encephalopathy, Early Infantile, 45 GABRB1 microphthalmia, isolated 6 microphthalmia_isolated_6_2 Microphthalmia, Isolated 6 PRSS56 DOID:0060835 migraine, familial hemiplegic, 3 migraine_familial_hemiplegic_3 Migraine, Familial Hemiplegic, 3 SCN1A myasthenic syndrome, congenital, 7, presynaptic myasthenic_syndrome_congenital_7_presynaptic Myasthenic Syndrome, Congenital, 7, Presynaptic SYT2 DOID:0110659 peroxisome biogenesis disorder 8b peroxisome_biogenesis_disorder_8b Peroxisome Biogenesis Disorder 8b PEX16 cataract 21, multiple types cataract_21_multiple_types Cataract 21, Multiple Types MAF DOID:0110256 question mark ears, isolated question_mark_ears_isolated Question Mark Ears, Isolated EDN1 maturity-onset diabetes of the young, type 7 maturity_onset_diabetes_of_the_young_type_7 Maturity-Onset Diabetes of the Young, Type 7 KLF11 DOID:0111106 macular dystrophy, vitelliform, 4 macular_dystrophy_vitelliform_4 Macular Dystrophy, Vitelliform, 4 IMPG1 nephrolithiasis/osteoporosis, hypophosphatemic, 1 nephrolithiasis_osteoporosis_hypophosphatemic_1 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 SLC34A1 DOID:0080077 fanconi anemia, complementation group t fanconi_anemia_complementation_group_t Fanconi Anemia, Complementation Group T UBE2T DOID:0111081 leber congenital amaurosis 7 leber_congenital_amaurosis_7 Leber Congenital Amaurosis 7 CRX DOID:0110333 long qt syndrome 10 long_qt_syndrome_10 Long Qt Syndrome 10 SCN4B DOID:0110651 mitochondrial complex iii deficiency, nuclear type 6 mitochondrial_complex_iii_deficiency_nuclear_type_6 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 CYC1 DOID:0080115 mononeuropathy of the median nerve, mild mononeuropathy_of_the_median_nerve_mild Mononeuropathy of the Median Nerve, Mild SH3TC2 myasthenic syndrome, congenital, 12 myasthenic_syndrome_congenital_12 Myasthenic Syndrome, Congenital, 12 GFPT1 DOID:0110660 neu-laxova syndrome 2 neu_laxova_syndrome_2 Neu-Laxova Syndrome 2 PSAT1 DOID:0080075 retinal dystrophy with or without macular staphyloma retinal_dystrophy_with_or_without_macular_staphyloma Retinal Dystrophy with or Without Macular Staphyloma C21orf2 cardiomyopathy, dilated, 1kk cardiomyopathy_dilated_1kk Cardiomyopathy, Dilated, 1kk MYPN DOID:0110445 dyskeratosis congenita, autosomal recessive 1 dyskeratosis_congenita_autosomal_recessive_1 Dyskeratosis Congenita, Autosomal Recessive 1 NOP10 DOID:0070015 muscular dystrophy, congenital, davignon-chauveau type muscular_dystrophy_congenital_davignon_chauveau_type Muscular Dystrophy, Congenital, Davignon-Chauveau Type TRIP4 agammaglobulinemia 2, autosomal recessive agammaglobulinemia_2_autosomal_recessive Agammaglobulinemia 2, Autosomal Recessive IGLL1 basal ganglia calcification, idiopathic, 5 basal_ganglia_calcification_idiopathic_5 Basal Ganglia Calcification, Idiopathic, 5 PDGFB cataract 23, multiple types cataract_23_multiple_types Cataract 23, Multiple Types CRYBA4 DOID:0110271 fibrosis of extraocular muscles, congenital, 5 fibrosis_of_extraocular_muscles_congenital_5 Fibrosis of Extraocular Muscles, Congenital, 5 COL25A1 spondylocostal dysostosis 4, autosomal recessive spondylocostal_dysostosis_4_autosomal_recessive Spondylocostal Dysostosis 4, Autosomal Recessive HES7 coenzyme q10 deficiency, primary, 3 coenzyme_q10_deficiency_primary_3 Coenzyme Q10 Deficiency, Primary, 3 PDSS2 dehydrated hereditary stomatocytosis 2 dehydrated_hereditary_stomatocytosis_2 Dehydrated Hereditary Stomatocytosis 2 KCNN4 retinitis pigmentosa 68 retinitis_pigmentosa_68 Retinitis Pigmentosa 68 SLC7A14 DOID:0110374 deafness, x-linked 1 deafness_x_linked_1 Deafness, X-Linked 1 PRPS1 diabetes mellitus, insulin-dependent, 2 diabetes_mellitus_insulin_dependent_2 Diabetes Mellitus, Insulin-Dependent, 2 INS joubert syndrome 7 joubert_syndrome_7 Joubert Syndrome 7 RPGRIP1L DOID:0111002 cataract 12, multiple types cataract_12_multiple_types Cataract 12, Multiple Types BFSP2 DOID:0110239 cole-carpenter syndrome 2 cole_carpenter_syndrome_2 Cole-Carpenter Syndrome 2 SEC24D heimler syndrome 2 heimler_syndrome_2 Heimler Syndrome 2 PEX6 leukoencephalopathy, progressive, with ovarian failure leukoencephalopathy_progressive_with_ovarian_failure Leukoencephalopathy, Progressive, with Ovarian Failure AARS2 mental retardation, x-linked 104 mental_retardation_x_linked_104 Mental Retardation, X-Linked 104 FRMPD4 retinitis pigmentosa 27 retinitis_pigmentosa_27_2 Retinitis Pigmentosa 27 NRL DOID:0110397 ciliary dyskinesia, primary, 13 ciliary_dyskinesia_primary_13 Ciliary Dyskinesia, Primary, 13 DNAAF1 DOID:0110618 lethal congenital contracture syndrome 9 lethal_congenital_contracture_syndrome_9 Lethal Congenital Contracture Syndrome 9 ADGRG6 nemaline myopathy 4 nemaline_myopathy_4 Nemaline Myopathy 4 TPM2 DOID:0110932 symphalangism, proximal, 1b symphalangism_proximal_1b Symphalangism, Proximal, 1b GDF5 diamond-blackfan anemia 13 diamond_blackfan_anemia_13 Diamond-Blackfan Anemia 13 RPS29 epileptic encephalopathy, early infantile, 34 epileptic_encephalopathy_early_infantile_34 Epileptic Encephalopathy, Early Infantile, 34 SLC12A5 microphthalmia, isolated, with coloboma 7 microphthalmia_isolated_with_coloboma_7_2 Microphthalmia, Isolated, with Coloboma 7 ABCB6 vesicoureteral reflux 2 vesicoureteral_reflux_2 Vesicoureteral Reflux 2 ROBO2 branchiootic syndrome 3 branchiootic_syndrome_3 Branchiootic Syndrome 3 SIX1 ichthyosis, congenital, autosomal recessive 6 ichthyosis_congenital_autosomal_recessive_6 Ichthyosis, Congenital, Autosomal Recessive 6 NIPAL4 DOID:0060715 vesicoureteral reflux 8 vesicoureteral_reflux_8 Vesicoureteral Reflux 8 TNXB atrial septal defect 6 atrial_septal_defect_6 Atrial Septal Defect 6 TLL1 DOID:0110111 cardiomyopathy, dilated, 1nn cardiomyopathy_dilated_1nn Cardiomyopathy, Dilated, 1nn RAF1 DOID:0110432 coffin-siris syndrome 4 coffin_siris_syndrome_4 Coffin-Siris Syndrome 4 SMARCA4 DOID:0070046 episodic pain syndrome, familial, 2 episodic_pain_syndrome_familial_2 Episodic Pain Syndrome, Familial, 2 SCN10A joubert syndrome 18 joubert_syndrome_18 Joubert Syndrome 18 TCTN3 DOID:0110987 pituitary hormone deficiency, combined, 6 pituitary_hormone_deficiency_combined_6 Pituitary Hormone Deficiency, Combined, 6 OTX2 singleton-merten syndrome 2 singleton_merten_syndrome_2 Singleton-Merten Syndrome 2 DDX58 skeletal defects, genital hypoplasia, and mental retardation skeletal_defects_genital_hypoplasia_and_mental_retardation Skeletal Defects, Genital Hypoplasia, and Mental Retardation ZBTB16 dyskeratosis congenita, autosomal recessive 2 dyskeratosis_congenita_autosomal_recessive_2_2 Dyskeratosis Congenita, Autosomal Recessive 2 NHP2 DOID:0070017 microphthalmia, isolated, with coloboma 6 microphthalmia_isolated_with_coloboma_6 Microphthalmia, Isolated, with Coloboma 6 GDF3 multiple synostoses syndrome 2 multiple_synostoses_syndrome_2 Multiple Synostoses Syndrome 2 GDF5 ritscher-schinzel syndrome 2 ritscher_schinzel_syndrome_2 Ritscher-Schinzel Syndrome 2 CCDC22 DOID:0060572 macrothrombocytopenia, autosomal dominant, tubb1-related macrothrombocytopenia_autosomal_dominant_tubb1_related Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related TUBB1 DOID:0090102 diamond-blackfan anemia 7 diamond_blackfan_anemia_7 Diamond-Blackfan Anemia 7 RPL11 orofacial cleft 11 orofacial_cleft_11 Orofacial Cleft 11 BMP4 advanced sleep phase syndrome, familial, 1 advanced_sleep_phase_syndrome_familial_1 Advanced Sleep Phase Syndrome, Familial, 1 PER2 DOID:0110011 fleck retina, familial benign fleck_retina_familial_benign Fleck Retina, Familial Benign PLA2G5 retinitis pigmentosa with or without situs inversus retinitis_pigmentosa_with_or_without_situs_inversus Retinitis Pigmentosa with or Without Situs Inversus ARL2BP DOID:0110419 nephronophthisis 16 nephronophthisis_16 Nephronophthisis 16 ANKS6 DOID:0111124 peroxisome biogenesis disorder 11b peroxisome_biogenesis_disorder_11b Peroxisome Biogenesis Disorder 11b PEX13 arrhythmogenic right ventricular dysplasia, familial, 12 arrhythmogenic_right_ventricular_dysplasia_familial_12 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 JUP DOID:0110083 atrial fibrillation, familial, 3 atrial_fibrillation_familial_3 Atrial Fibrillation, Familial, 3 KCNQ1 cohen-gibson syndrome cohen_gibson_syndrome Cohen-Gibson Syndrome EED hypocalcemia, autosomal dominant 2 hypocalcemia_autosomal_dominant_2 Hypocalcemia, Autosomal Dominant 2 GNA11 DOID:0090108 mental retardation, autosomal dominant 27 mental_retardation_autosomal_dominant_27_2 Mental Retardation, Autosomal Dominant 27 SOX11 DOID:0070057 hypermanganesemia with dystonia 2 hypermanganesemia_with_dystonia_2 Hypermanganesemia with Dystonia 2 SLC39A14 tooth agenesis, selective, 7 tooth_agenesis_selective_7_2 Tooth Agenesis, Selective, 7 LRP6 diamond-blackfan anemia 5 diamond_blackfan_anemia_5 Diamond-Blackfan Anemia 5 RPL35A heterotaxy, visceral, 5, autosomal heterotaxy_visceral_5_autosomal Heterotaxy, Visceral, 5, Autosomal NODAL myasthenic syndrome, congenital, 21, presynaptic myasthenic_syndrome_congenital_21_presynaptic Myasthenic Syndrome, Congenital, 21, Presynaptic SLC18A3 DOID:0110672 warburg micro syndrome 3 warburg_micro_syndrome_3 Warburg Micro Syndrome 3 RAB18 DOID:0110718 cone-rod dystrophy 12 cone_rod_dystrophy_12 Cone-Rod Dystrophy 12 PROM1 DOID:0111019 microphthalmia, isolated, with coloboma 10 microphthalmia_isolated_with_coloboma_10 Microphthalmia, Isolated, with Coloboma 10 RBP4 cone-rod dystrophy 11 cone_rod_dystrophy_11 Cone-Rod Dystrophy 11 RAX2 DOID:0111018 hypomagnesemia, seizures, and mental retardation hypomagnesemia_seizures_and_mental_retardation Hypomagnesemia, Seizures, and Mental Retardation CNNM2 macular dystrophy, vitelliform, 5 macular_dystrophy_vitelliform_5 Macular Dystrophy, Vitelliform, 5 IMPG2 night blindness, congenital stationary, autosomal dominant 2 night_blindness_congenital_stationary_autosomal_dominant_2 Night Blindness, Congenital Stationary, Autosomal Dominant 2 PDE6B DOID:0110863 pulmonary hypertension, primary, 4 pulmonary_hypertension_primary_4 Pulmonary Hypertension, Primary, 4 KCNK3 adams-oliver syndrome 3 adams_oliver_syndrome_3 Adams-Oliver Syndrome 3 RBPJ meier-gorlin syndrome 6 meier_gorlin_syndrome_6 Meier-Gorlin Syndrome 6 GMNN osteopetrosis, autosomal recessive 1 osteopetrosis_autosomal_recessive_1_2 Osteopetrosis, Autosomal Recessive 1 TCIRG1 DOID:0110942 zinc deficiency, transient neonatal zinc_deficiency_transient_neonatal Zinc Deficiency, Transient Neonatal SLC30A2 ichthyosis, congenital, autosomal recessive 3 ichthyosis_congenital_autosomal_recessive_3 Ichthyosis, Congenital, Autosomal Recessive 3 ALOXE3 DOID:0060711 cone-rod dystrophy 20 cone_rod_dystrophy_20 Cone-Rod Dystrophy 20 POC1B DOID:0111026 epileptic encephalopathy, early infantile, 47 epileptic_encephalopathy_early_infantile_47 Epileptic Encephalopathy, Early Infantile, 47 FGF12 orofacial cleft 5 orofacial_cleft_5 Orofacial Cleft 5 MSX1 retinitis pigmentosa 74 retinitis_pigmentosa_74 Retinitis Pigmentosa 74 BBS2 DOID:0110401 epilepsy, nocturnal frontal lobe, 4 epilepsy_nocturnal_frontal_lobe_4 Epilepsy, Nocturnal Frontal Lobe, 4 CHRNA2 spermatogenic failure 8 spermatogenic_failure_8 Spermatogenic Failure 8 NR5A1 ichthyosis, congenital, autosomal recessive 5 ichthyosis_congenital_autosomal_recessive_5 Ichthyosis, Congenital, Autosomal Recessive 5 CYP4F22 DOID:0060714 retinitis pigmentosa 73 retinitis_pigmentosa_73 Retinitis Pigmentosa 73 HGSNAT DOID:0110389 cataract 4, multiple types cataract_4_multiple_types Cataract 4, Multiple Types CRYGD DOID:0110234 ciliary dyskinesia, primary, 34 ciliary_dyskinesia_primary_34 Ciliary Dyskinesia, Primary, 34 DNAJB13 DOID:0110610 retinitis pigmentosa 75 retinitis_pigmentosa_75 Retinitis Pigmentosa 75 AGBL5 DOID:0110361 deafness, autosomal dominant 3b deafness_autosomal_dominant_3b Deafness, Autosomal Dominant 3b GJB6 DOID:0110565 hyperphosphatasia with mental retardation syndrome 6 hyperphosphatasia_with_mental_retardation_syndrome_6 Hyperphosphatasia with Mental Retardation Syndrome 6 PIGY nephronophthisis 15 nephronophthisis_15 Nephronophthisis 15 CEP164 DOID:0111123 epileptic encephalopathy, early infantile, 46 epileptic_encephalopathy_early_infantile_46 Epileptic Encephalopathy, Early Infantile, 46 GRIN2D leber congenital amaurosis 11 leber_congenital_amaurosis_11 Leber Congenital Amaurosis 11 IMPDH1 DOID:0110216 bleeding disorder, platelet-type, 16 bleeding_disorder_platelet_type_16 Bleeding Disorder, Platelet-Type, 16 ITGA2B DOID:0060691 cardiomyopathy, familial hypertrophic, 13 cardiomyopathy_familial_hypertrophic_13 Cardiomyopathy, Familial Hypertrophic, 13 TNNC1 DOID:0110319 cone-rod dystrophy 10 cone_rod_dystrophy_10 Cone-Rod Dystrophy 10 SEMA4A DOID:0111017 ventricular septal defect 3 ventricular_septal_defect_3 Ventricular Septal Defect 3 NKX2-5 coffin-siris syndrome 5 coffin_siris_syndrome_5 Coffin-Siris Syndrome 5 SMARCE1 retinitis pigmentosa 49 retinitis_pigmentosa_49_2 Retinitis Pigmentosa 49 CNGA1 DOID:0110377 seizures, benign familial infantile, 5 seizures_benign_familial_infantile_5 Seizures, Benign Familial Infantile, 5 SCN8A combined oxidative phosphorylation deficiency 29 combined_oxidative_phosphorylation_deficiency_29 Combined Oxidative Phosphorylation Deficiency 29 TXN2 microphthalmia, isolated 4 microphthalmia_isolated_4 Microphthalmia, Isolated 4 GDF6 DOID:0060836 obesity, hyperphagia, and developmental delay obesity_hyperphagia_and_developmental_delay Obesity, Hyperphagia, and Developmental Delay NTRK2 heterotaxy, visceral, 2, autosomal heterotaxy_visceral_2_autosomal Heterotaxy, Visceral, 2, Autosomal CFC1 holoprosencephaly 11 holoprosencephaly_11 Holoprosencephaly 11 CDON DOID:0110877 lissencephaly 6 with microcephaly lissencephaly_6_with_microcephaly_2 Lissencephaly 6 with Microcephaly KATNB1 osteopetrosis, autosomal recessive 8 osteopetrosis_autosomal_recessive_8 Osteopetrosis, Autosomal Recessive 8 SNX10 DOID:0110940 heterotaxy, visceral, 8, autosomal heterotaxy_visceral_8_autosomal Heterotaxy, Visceral, 8, Autosomal PKD1L1 erythrocytosis, familial, 4 erythrocytosis_familial_4 Erythrocytosis, Familial, 4 EPAS1 frontometaphyseal dysplasia 2 frontometaphyseal_dysplasia_2 Frontometaphyseal Dysplasia 2 MAP3K7 zimmermann-laband syndrome 2 zimmermann_laband_syndrome_2 Zimmermann-Laband Syndrome 2 ATP6V1B2 alternating hemiplegia of childhood 1 alternating_hemiplegia_of_childhood_1 Alternating Hemiplegia of Childhood 1 ATP1A2 microphthalmia, isolated 2 microphthalmia_isolated_2 Microphthalmia, Isolated 2 VSX2 DOID:0060839 myasthenic syndrome, congenital, 13 myasthenic_syndrome_congenital_13 Myasthenic Syndrome, Congenital, 13 DPAGT1 DOID:0110676 noonan syndrome 3 noonan_syndrome_3 Noonan Syndrome 3 KRAS DOID:0060581 branchiootorenal syndrome 1 branchiootorenal_syndrome_1 Branchiootorenal Syndrome 1 EYA1 desbuquois dysplasia 2 desbuquois_dysplasia_2 Desbuquois Dysplasia 2 XYLT1 vesicoureteral reflux 3 vesicoureteral_reflux_3 Vesicoureteral Reflux 3 SOX17 mental retardation, autosomal recessive 18 mental_retardation_autosomal_recessive_18 Mental Retardation, Autosomal Recessive 18 MED23 al-raqad syndrome al_raqad_syndrome Al-Raqad Syndrome DCPS amyotrophic lateral sclerosis 12 amyotrophic_lateral_sclerosis_12 Amyotrophic Lateral Sclerosis 12 OPTN DOID:0060203 cardiofaciocutaneous syndrome 4 cardiofaciocutaneous_syndrome_4 Cardiofaciocutaneous Syndrome 4 MAP2K2 cole-carpenter syndrome 1 cole_carpenter_syndrome_1 Cole-Carpenter Syndrome 1 P4HB hyperekplexia 3 hyperekplexia_3 Hyperekplexia 3 SLC6A5 DOID:0060698 agammaglobulinemia 6, autosomal recessive agammaglobulinemia_6_autosomal_recessive Agammaglobulinemia 6, Autosomal Recessive CD79B cataract 5, multiple types cataract_5_multiple_types Cataract 5, Multiple Types HSF4 DOID:0110255 nemaline myopathy 7 nemaline_myopathy_7 Nemaline Myopathy 7 CFL2 DOID:0110934 noonan syndrome 10 noonan_syndrome_10 Noonan Syndrome 10 LZTR1 DOID:0060588 joubert syndrome 16 joubert_syndrome_16 Joubert Syndrome 16 TMEM138 DOID:0110985 retinitis pigmentosa 50 retinitis_pigmentosa_50_2 Retinitis Pigmentosa 50 BEST1 DOID:0110396 cardiomyopathy, familial hypertrophic, 6 cardiomyopathy_familial_hypertrophic_6_2 Cardiomyopathy, Familial Hypertrophic, 6 PRKAG2 DOID:0110312 nephrotic syndrome, type 3 nephrotic_syndrome_type_3_2 Nephrotic Syndrome, Type 3 PLCE1 cardiomyopathy, familial hypertrophic, 17 cardiomyopathy_familial_hypertrophic_17_2 Cardiomyopathy, Familial Hypertrophic, 17 JPH2 DOID:0110323 atrial fibrillation, familial, 12 atrial_fibrillation_familial_12 Atrial Fibrillation, Familial, 12 ABCC9 mental retardation, autosomal recessive 5 mental_retardation_autosomal_recessive_5_2 Mental Retardation, Autosomal Recessive 5 NSUN2 microphthalmia, isolated 3 microphthalmia_isolated_3 Microphthalmia, Isolated 3 RAX DOID:0060842 cardiomyopathy, dilated, 1ee cardiomyopathy_dilated_1ee Cardiomyopathy, Dilated, 1ee MYH6 DOID:0110453 myopathy, centronuclear, 5 myopathy_centronuclear_5 Myopathy, Centronuclear, 5 SPEG nephronophthisis 18 nephronophthisis_18 Nephronophthisis 18 CEP83 DOID:0111125 parkinson disease 1, autosomal dominant parkinson_disease_1_autosomal_dominant Parkinson Disease 1, Autosomal Dominant SNCA DOID:0060367 seizures, scoliosis, and macrocephaly syndrome seizures_scoliosis_and_macrocephaly_syndrome Seizures, Scoliosis, and Macrocephaly Syndrome EXT2 ataxia-oculomotor apraxia 3 ataxia_oculomotor_apraxia_3 Ataxia-Oculomotor Apraxia 3 PIK3R5 DOID:0060557 cardiofaciocutaneous syndrome 3 cardiofaciocutaneous_syndrome_3 Cardiofaciocutaneous Syndrome 3 MAP2K1 ciliary dyskinesia, primary, 18 ciliary_dyskinesia_primary_18 Ciliary Dyskinesia, Primary, 18 DNAAF5 DOID:0110604 peroxisome biogenesis disorder 10a peroxisome_biogenesis_disorder_10a Peroxisome Biogenesis Disorder 10a PEX3 branchiootorenal syndrome 2 branchiootorenal_syndrome_2 Branchiootorenal Syndrome 2 SIX5 microphthalmia, syndromic 12 microphthalmia_syndromic_12 Microphthalmia, Syndromic 12 RARB acne inversa, familial, 1 acne_inversa_familial_1 Acne Inversa, Familial, 1 NCSTN craniodiaphyseal dysplasia, autosomal dominant craniodiaphyseal_dysplasia_autosomal_dominant Craniodiaphyseal Dysplasia, Autosomal Dominant SOST deafness, autosomal dominant 4a deafness_autosomal_dominant_4a Deafness, Autosomal Dominant 4a MYH14 DOID:0110573 tooth agenesis, selective, 1 tooth_agenesis_selective_1 Tooth Agenesis, Selective, 1 MSX1 achromatopsia 7 achromatopsia_7 Achromatopsia 7 ATF6 DOID:0110009 atrial septal defect 9 atrial_septal_defect_9 Atrial Septal Defect 9 GATA6 DOID:0110114 bleeding disorder, platelet-type, 16 bleeding_disorder_platelet_type_16 Bleeding Disorder, Platelet-Type, 16 ITGB3 DOID:0060691 perrault syndrome 5 perrault_syndrome_5 Perrault Syndrome 5 TWNK cone-rod dystrophy 15 cone_rod_dystrophy_15 Cone-Rod Dystrophy 15 CDHR1 DOID:0111021 epileptic encephalopathy, early infantile, 18 epileptic_encephalopathy_early_infantile_18 Epileptic Encephalopathy, Early Infantile, 18 SZT2 facial paresis, hereditary congenital, 3 facial_paresis_hereditary_congenital_3 Facial Paresis, Hereditary Congenital, 3 HOXB1 mental retardation, autosomal dominant 33 mental_retardation_autosomal_dominant_33 Mental Retardation, Autosomal Dominant 33 DPP6 DOID:0070063 deafness, autosomal dominant 40 deafness_autosomal_dominant_40 Deafness, Autosomal Dominant 40 CRYM DOID:0110566 brugada syndrome 7 brugada_syndrome_7 Brugada Syndrome 7 SCN3B DOID:0110224 retinitis pigmentosa 35 retinitis_pigmentosa_35 Retinitis Pigmentosa 35 SEMA4A DOID:0110357 retinitis pigmentosa 61 retinitis_pigmentosa_61 Retinitis Pigmentosa 61 CLRN1 DOID:0110373 retinitis pigmentosa 70 retinitis_pigmentosa_70 Retinitis Pigmentosa 70 PRPF4 DOID:0110392 joubert syndrome 20 joubert_syndrome_20 Joubert Syndrome 20 TMEM231 DOID:0110989 nephrotic syndrome, type 10 nephrotic_syndrome_type_10 Nephrotic Syndrome, Type 10 EMP2 retinitis pigmentosa 36 retinitis_pigmentosa_36 Retinitis Pigmentosa 36 PRCD DOID:0110405 dystonia 26, myoclonic dystonia_26_myoclonic Dystonia 26, Myoclonic KCTD17 DOID:0090036 uv-sensitive syndrome 2 uv_sensitive_syndrome_2_2 Uv-Sensitive Syndrome 2 ERCC8 cataract 31, multiple types cataract_31_multiple_types Cataract 31, Multiple Types CHMP4B DOID:0110265 cataract 34, multiple types cataract_34_multiple_types Cataract 34, Multiple Types FOXE3 DOID:0110230 cardiomyopathy, familial hypertrophic, 20 cardiomyopathy_familial_hypertrophic_20_2 Cardiomyopathy, Familial Hypertrophic, 20 NEXN DOID:0110326 porencephaly 1 porencephaly_1 Porencephaly 1 COL4A1 lymphoproliferative syndrome 1 lymphoproliferative_syndrome_1 Lymphoproliferative Syndrome 1 ITK DOID:0060707 cataract 22, multiple types cataract_22_multiple_types Cataract 22, Multiple Types CRYBB3 DOID:0110268 myasthenic syndrome, congenital, 16 myasthenic_syndrome_congenital_16 Myasthenic Syndrome, Congenital, 16 SCN4A DOID:0110682 bruck syndrome 2 bruck_syndrome_2 Bruck Syndrome 2 PLOD2 cardiomyopathy, familial hypertrophic, 16 cardiomyopathy_familial_hypertrophic_16_2 Cardiomyopathy, Familial Hypertrophic, 16 MYOZ2 DOID:0110322 spermatogenic failure 3 spermatogenic_failure_3 Spermatogenic Failure 3 SLC26A8 spherocytosis, type 2 spherocytosis_type_2 Spherocytosis, Type 2 SPTB DOID:0110917 cardiomyopathy, dilated, 1p cardiomyopathy_dilated_1p Cardiomyopathy, Dilated, 1p PLN DOID:0110439 joubert syndrome 27 joubert_syndrome_27 Joubert Syndrome 27 B9D1 DOID:0110996 cardiomyopathy, familial hypertrophic, 14 cardiomyopathy_familial_hypertrophic_14 Cardiomyopathy, Familial Hypertrophic, 14 MYH6 DOID:0110320 craniosynostosis 3 craniosynostosis_3 Craniosynostosis 3 TCF12 cardiomyopathy, familial hypertrophic, 12 cardiomyopathy_familial_hypertrophic_12 Cardiomyopathy, Familial Hypertrophic, 12 CSRP3 DOID:0110318 ciliary dyskinesia, primary, 23 ciliary_dyskinesia_primary_23 Ciliary Dyskinesia, Primary, 23 ARMC4 DOID:0110609 ciliary dyskinesia, primary, 24 ciliary_dyskinesia_primary_24 Ciliary Dyskinesia, Primary, 24 RSPH1 DOID:0110628 spermatogenic failure 11 spermatogenic_failure_11 Spermatogenic Failure 11 KLHL10 mental retardation, autosomal recessive 14 mental_retardation_autosomal_recessive_14 Mental Retardation, Autosomal Recessive 14 TECR multiple synostoses syndrome 3 multiple_synostoses_syndrome_3 Multiple Synostoses Syndrome 3 FGF9 retinitis pigmentosa 72 retinitis_pigmentosa_72 Retinitis Pigmentosa 72 ZNF408 DOID:0110395 microphthalmia, isolated 7 microphthalmia_isolated_7 Microphthalmia, Isolated 7 GDF3 DOID:0060838 seckel syndrome 5 seckel_syndrome_5 Seckel Syndrome 5 CEP152 DOID:0070012 trichothiodystrophy 3, photosensitive trichothiodystrophy_3_photosensitive Trichothiodystrophy 3, Photosensitive GTF2H5 cowden syndrome 7 cowden_syndrome_7 Cowden Syndrome 7 SEC23B hypercalcemia, infantile, 1 hypercalcemia_infantile_1 Hypercalcemia, Infantile, 1 CYP24A1 cataract 2, multiple types cataract_2_multiple_types Cataract 2, Multiple Types CRYGC DOID:0110235 pachyonychia congenita 4 pachyonychia_congenita_4 Pachyonychia Congenita 4 KRT6B perrault syndrome 3 perrault_syndrome_3 Perrault Syndrome 3 CLPP cardiomyopathy, dilated, 1cc cardiomyopathy_dilated_1cc Cardiomyopathy, Dilated, 1cc NEXN DOID:0110424 trichothiodystrophy 2, photosensitive trichothiodystrophy_2_photosensitive Trichothiodystrophy 2, Photosensitive ERCC3 woolly hair, autosomal dominant woolly_hair_autosomal_dominant Woolly Hair, Autosomal Dominant KRT74 hemochromatosis, type 2b hemochromatosis_type_2b Hemochromatosis, Type 2b HAMP DOID:0111032 hyperchlorhidrosis, isolated hyperchlorhidrosis_isolated Hyperchlorhidrosis, Isolated CA12 multiple fibroadenomas of the breast multiple_fibroadenomas_of_the_breast Multiple Fibroadenomas of the Breast PRLR periodontitis, aggressive, 1 periodontitis_aggressive_1 Periodontitis, Aggressive, 1 CTSC microphthalmia, isolated, with coloboma 3 microphthalmia_isolated_with_coloboma_3 Microphthalmia, Isolated, with Coloboma 3 VSX2 cardiomyopathy, dilated, 1ii cardiomyopathy_dilated_1ii Cardiomyopathy, Dilated, 1ii CRYAB DOID:0110450 osteopetrosis, autosomal recessive 2 osteopetrosis_autosomal_recessive_2_2 Osteopetrosis, Autosomal Recessive 2 TNFSF11 DOID:0110943 keratoconus 1 keratoconus_1 Keratoconus 1 VSX1 atrial standstill 2 atrial_standstill_2 Atrial Standstill 2 NPPA auriculocondylar syndrome 3 auriculocondylar_syndrome_3 Auriculocondylar Syndrome 3 EDN1 mental retardation, autosomal recessive 55 mental_retardation_autosomal_recessive_55 Mental Retardation, Autosomal Recessive 55 PUS3 retinitis pigmentosa 60 retinitis_pigmentosa_60 Retinitis Pigmentosa 60 PRPF6 DOID:0110411 noonan syndrome 6 noonan_syndrome_6 Noonan Syndrome 6 NRAS DOID:0060584 ichthyosis, congenital, autosomal recessive 10 ichthyosis_congenital_autosomal_recessive_10 Ichthyosis, Congenital, Autosomal Recessive 10 PNPLA1 DOID:0060719 schnyder corneal dystrophy schnyder_corneal_dystrophy Schnyder Corneal Dystrophy UBIAD1 DOID:0060456 microcephaly 9, primary, autosomal recessive microcephaly_9_primary_autosomal_recessive Microcephaly 9, Primary, Autosomal Recessive CEP152 hyperekplexia 2 hyperekplexia_2 Hyperekplexia 2 GLRB DOID:0060697 microcephaly 7, primary, autosomal recessive microcephaly_7_primary_autosomal_recessive Microcephaly 7, Primary, Autosomal Recessive STIL brugada syndrome 3 brugada_syndrome_3 Brugada Syndrome 3 CACNA1C DOID:0110220 cataract 17, multiple types cataract_17_multiple_types Cataract 17, Multiple Types CRYBB1 DOID:0110270 retinitis pigmentosa 44 retinitis_pigmentosa_44_2 Retinitis Pigmentosa 44 RGR DOID:0110394 proteus syndrome proteus_syndrome Proteus Syndrome AKT1 DOID:13482 tenorio syndrome tenorio_syndrome Tenorio Syndrome RNF125 microcephaly 6, primary, autosomal recessive microcephaly_6_primary_autosomal_recessive Microcephaly 6, Primary, Autosomal Recessive CENPJ microcephaly 4, primary, autosomal recessive microcephaly_4_primary_autosomal_recessive Microcephaly 4, Primary, Autosomal Recessive KNL1 oguchi disease 2 oguchi_disease_2 Oguchi Disease 2 GRK1 DOID:0110713 cardiomyopathy, dilated, 1gg cardiomyopathy_dilated_1gg Cardiomyopathy, Dilated, 1gg SDHA DOID:0110435 auriculocondylar syndrome 1 auriculocondylar_syndrome_1 Auriculocondylar Syndrome 1 GNAI3 multiple acyl-coa dehydrogenase deficiency multiple_acyl_coa_dehydrogenase_deficiency Multiple Acyl-Coa Dehydrogenase Deficiency ETFB DOID:0060358 cardiomyopathy, dilated, 1jj cardiomyopathy_dilated_1jj Cardiomyopathy, Dilated, 1jj LAMA4 DOID:0110438 pilomatrixoma pilomatrixoma Pilomatrixoma CTNNB1 DOID:5374 pulmonary hypertension, primary, 2 pulmonary_hypertension_primary_2 Pulmonary Hypertension, Primary, 2 SMAD9 cardiomyopathy, dilated, 1l cardiomyopathy_dilated_1l Cardiomyopathy, Dilated, 1l SGCD DOID:0110436 cardiomyopathy, dilated, 1o cardiomyopathy_dilated_1o Cardiomyopathy, Dilated, 1o ABCC9 DOID:0110451 cardiomyopathy, dilated, 1w cardiomyopathy_dilated_1w Cardiomyopathy, Dilated, 1w VCL DOID:0110446 retinitis pigmentosa 46 retinitis_pigmentosa_46_2 Retinitis Pigmentosa 46 IDH3B DOID:0110409 cone dystrophy 4 cone_dystrophy_4 Cone Dystrophy 4 PDE6C nanophthalmos 2 nanophthalmos_2 Nanophthalmos 2 MFRP ovarian dysgenesis 2 ovarian_dysgenesis_2 Ovarian Dysgenesis 2 BMP15 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations GATA6 porencephaly 2 porencephaly_2 Porencephaly 2 COL4A2 trigonocephaly 2 trigonocephaly_2 Trigonocephaly 2 FREM1 trichohepatoenteric syndrome 2 trichohepatoenteric_syndrome_2 Trichohepatoenteric Syndrome 2 SKIV2L immunodeficiency 47 immunodeficiency_47 Immunodeficiency 47 ATP6AP1 maturity-onset diabetes of the young, type 9 maturity_onset_diabetes_of_the_young_type_9 Maturity-Onset Diabetes of the Young, Type 9 PAX4 DOID:0111107 craniosynostosis 1 craniosynostosis_1 Craniosynostosis 1 TWIST1 thrombocythemia 3 thrombocythemia_3 Thrombocythemia 3 JAK2 hypotrichosis 11 hypotrichosis_11 Hypotrichosis 11 SNRPE DOID:0110708 craniosynostosis 6 craniosynostosis_6 Craniosynostosis 6 ZIC1 perrault syndrome 6 perrault_syndrome_6 Perrault Syndrome 6 ERAL1 DOID:0080256 verheij syndrome verheij_syndrome Verheij Syndrome PUF60 hypotrichosis 12 hypotrichosis_12 Hypotrichosis 12 RPL21 DOID:0110709 bartter syndrome, type 1, antenatal bartter_syndrome_type_1_antenatal Bartter Syndrome, Type 1, Antenatal SLC12A1 DOID:0110142 thrombocytopenia 4 thrombocytopenia_4 Thrombocytopenia 4 CYCS ischiocoxopodopatellar syndrome ischiocoxopodopatellar_syndrome Ischiocoxopodopatellar Syndrome TBX4 paragangliomas 2 paragangliomas_2 Paragangliomas 2 SDHAF2 immunodeficiency 43 immunodeficiency_43 Immunodeficiency 43 B2M immunodeficiency 13 immunodeficiency_13 Immunodeficiency 13 UNC119 hemophagocytic lymphohistiocytosis, familial, 5 hemophagocytic_lymphohistiocytosis_familial_5 Hemophagocytic Lymphohistiocytosis, Familial, 5 STXBP2 DOID:0110925 pontocerebellar hypoplasia, type 2d pontocerebellar_hypoplasia_type_2d_2 Pontocerebellar Hypoplasia, Type 2d SEPSECS DOID:0060270 osteogenesis imperfecta, type ix osteogenesis_imperfecta_type_ix Osteogenesis Imperfecta, Type Ix PPIB DOID:0110349 bartter syndrome, type 2, antenatal bartter_syndrome_type_2_antenatal Bartter Syndrome, Type 2, Antenatal KCNJ1 DOID:0110143 apolipoprotein c-iii deficiency apolipoprotein_c_iii_deficiency Apolipoprotein C-Iii Deficiency APOC3 cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e MYH7 DOID:0110457 cat eye syndrome cat_eye_syndrome Cat Eye Syndrome CD96 colorectal cancer, hereditary nonpolyposis, type 4 colorectal_cancer_hereditary_nonpolyposis_type_4 Colorectal Cancer, Hereditary Nonpolyposis, Type 4 PMS2 colorectal cancer, hereditary nonpolyposis, type 5 colorectal_cancer_hereditary_nonpolyposis_type_5 Colorectal Cancer, Hereditary Nonpolyposis, Type 5 MSH6 diabetes mellitus, transient neonatal, 2 diabetes_mellitus_transient_neonatal_2_2 Diabetes Mellitus, Transient Neonatal, 2 ABCC8 generalized epilepsy with febrile seizures plus, type 3 generalized_epilepsy_with_febrile_seizures_plus_type_3 Generalized Epilepsy with Febrile Seizures Plus, Type 3 GABRG2 mental retardation, x-linked, with or without seizures, arx-related mental_retardation_x_linked_with_or_without_seizures_arx_related Mental Retardation, X-Linked, with or Without Seizures, Arx-Related ARX muscular dystrophy-dystroglycanopathy , type a, 1 muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_1 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 POMT1 muscular dystrophy-dystroglycanopathy , type a, 11 muscular_dystrophy_dystroglycanopathy_type_a_11 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 B3GALNT2 muscular dystrophy-dystroglycanopathy , type a, 14 muscular_dystrophy_dystroglycanopathy_type_a_14 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 GMPPB muscular dystrophy-dystroglycanopathy , type a, 2 muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_2 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 POMT2 muscular dystrophy-dystroglycanopathy , type a, 7 muscular_dystrophy_dystroglycanopathy_type_a_7 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 ISPD muscular dystrophy-dystroglycanopathy , type a, 8 muscular_dystrophy_dystroglycanopathy_type_a_8 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 POMGNT2 muscular dystrophy-dystroglycanopathy , type b, 1 muscular_dystrophy_dystroglycanopathy_congenital_with_mental_retardation_type_b_1 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 POMT1 muscular dystrophy-dystroglycanopathy , type b, 14 muscular_dystrophy_dystroglycanopathy_type_b_14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 GMPPB muscular dystrophy-dystroglycanopathy , type b, 2 muscular_dystrophy_dystroglycanopathy_congenital_with_mental_retardation_type_b_2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 POMT2 muscular dystrophy-dystroglycanopathy , type b, 3 muscular_dystrophy_dystroglycanopathy_congenital_with_mental_retardation_type_b_3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 POMGNT1 neuronopathy, distal hereditary motor, type viib neuronopathy_distal_hereditary_motor_type_viib Neuronopathy, Distal Hereditary Motor, Type Viib DCTN1 night blindness, congenital stationary, type 1e night_blindness_congenital_stationary_type_1e Night Blindness, Congenital Stationary, Type 1e GPR179 DOID:0110869 telangiectasia, hereditary hemorrhagic, type 2 telangiectasia_hereditary_hemorrhagic_type_2 Telangiectasia, Hereditary Hemorrhagic, Type 2 ACVRL1 osteogenesis imperfecta, type vii osteogenesis_imperfecta_type_vii Osteogenesis Imperfecta, Type Vii CRTAP DOID:0110337 palmoplantar keratoderma, nonepidermolytic palmoplantar_keratoderma_nonepidermolytic Palmoplantar Keratoderma, Nonepidermolytic KRT1 DOID:0050428 spherocytosis, type 1 spherocytosis_type_1 Spherocytosis, Type 1 ANK1 DOID:0110916 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia ARHGAP26 DOID:0050458 generalized epilepsy with febrile seizures plus, type 7 generalized_epilepsy_with_febrile_seizures_plus_type_7 Generalized Epilepsy with Febrile Seizures Plus, Type 7 SCN9A autoimmune lymphoproliferative syndrome, type iia autoimmune_lymphoproliferative_syndrome_type_iia Autoimmune Lymphoproliferative Syndrome, Type Iia CASP10 DOID:0110115 frontotemporal lobar degeneration with tdp43 inclusions, grn-related frontotemporal_lobar_degeneration_with_tdp43_inclusions_grn_related Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related GRN DOID:0060672 arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis_renal_dysfunction_and_cholestasis_1 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 VPS33B DOID:0050763 left ventricular noncompaction 8 left_ventricular_noncompaction_8 Left Ventricular Noncompaction 8 PRDM16 3-methylcrotonyl-coa carboxylase 2 deficiency 3_methylcrotonyl_coa_carboxylase_2_deficiency 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency MCCC2 factor xiii, a subunit, deficiency of factor_xiii_a_subunit_deficiency_of Factor Xiii, a Subunit, Deficiency of F13A1 factor xiii, b subunit, deficiency of factor_xiii_b_subunit_deficiency_of Factor Xiii, B Subunit, Deficiency of F13B neuropathy, hereditary motor and sensory, type vib neuropathy_hereditary_motor_and_sensory_type_vib Neuropathy, Hereditary Motor and Sensory, Type Vib SLC25A46 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative granulomatous_disease_chronic_autosomal_recessive_cytochrome_b_negative Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative CYBA fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement fibrosis_of_extraocular_muscles_congenital_3a_with_or_without_extraocular_involvement Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement TUBB3 hemophagocytic lymphohistiocytosis, familial, 2 hemophagocytic_lymphohistiocytosis_familial_2 Hemophagocytic Lymphohistiocytosis, Familial, 2 PRF1 DOID:0110922 axenfeld-rieger syndrome, type 3 axenfeld_rieger_syndrome_type_3_2 Axenfeld-Rieger Syndrome, Type 3 FOXC1 DOID:0110122 generalized epilepsy with febrile seizures plus, type 9 generalized_epilepsy_with_febrile_seizures_plus_type_9 Generalized Epilepsy with Febrile Seizures Plus, Type 9 STX1B fructosuria, essential fructosuria_essential Fructosuria, Essential KHK congenital anomalies of kidney and urinary tract 1 congenital_anomalies_of_kidney_and_urinary_tract_1 Congenital Anomalies of Kidney and Urinary Tract 1 DSTYK DOID:0080206 neuropathy, hereditary sensory and autonomic, type viii neuropathy_hereditary_sensory_and_autonomic_type_viii Neuropathy, Hereditary Sensory and Autonomic, Type Viii PRDM12 DOID:0070153 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_2 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 HTRA1 DOID:0111036 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant ectodermal_dysplasia_11a_hypohidrotic_hair_tooth_type_autosomal_dominant Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant EDARADD mental retardation, x-linked, syndromic, raymond type mental_retardation_x_linked_syndromic_raymond_type Mental Retardation, X-Linked, Syndromic, Raymond Type ZDHHC9 vitamin k-dependent clotting factors, combined deficiency of, 1 vitamin_k_dependent_clotting_factors_combined_deficiency_of_1 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 GGCX surfactant metabolism dysfunction, pulmonary, 4 surfactant_metabolism_dysfunction_pulmonary_4 Surfactant Metabolism Dysfunction, Pulmonary, 4 CSF2RA myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy_lactic_acidosis_and_sideroblastic_anemia_2 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis CLCN5 megalencephalic leukoencephalopathy with subcortical cysts 2a megalencephalic_leukoencephalopathy_with_subcortical_cysts_2a Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a HEPACAM usher syndrome, type ij usher_syndrome_type_ij Usher Syndrome, Type Ij CIB2 DOID:0110836 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation megalencephalic_leukoencephalopathy_with_subcortical_cysts_2b_remitting_with_or_without_mental_retardation Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation HEPACAM pontocerebellar hypoplasia, type 2b pontocerebellar_hypoplasia_type_2b_2 Pontocerebellar Hypoplasia, Type 2b TSEN2 DOID:0060268 bartter syndrome, type 5, antenatal, transient bartter_syndrome_type_5_antenatal_transient Bartter Syndrome, Type 5, Antenatal, Transient MAGED2 DOID:0110147 cholestasis, intrahepatic, of pregnancy 3 cholestasis_intrahepatic_of_pregnancy_3_2 Cholestasis, Intrahepatic, of Pregnancy 3 ABCB4 short stature with nonspecific skeletal abnormalities short_stature_with_nonspecific_skeletal_abnormalities Short Stature with Nonspecific Skeletal Abnormalities NPR2 telangiectasia, hereditary hemorrhagic, type 5 telangiectasia_hereditary_hemorrhagic_type_5 Telangiectasia, Hereditary Hemorrhagic, Type 5 GDF2 amelogenesis imperfecta, type ij amelogenesis_imperfecta_type_ij Amelogenesis Imperfecta, Type Ij ACP4 maturity-onset diabetes of the young, type 10 maturity_onset_diabetes_of_the_young_type_10 Maturity-Onset Diabetes of the Young, Type 10 INS DOID:0111108 exudative vitreoretinopathy 5 exudative_vitreoretinopathy_5 Exudative Vitreoretinopathy 5 TSPAN12 bernard-soulier syndrome, type a2, autosomal dominant bernard_soulier_syndrome_type_a2_autosomal_dominant Bernard-Soulier Syndrome, Type A2, Autosomal Dominant GP1BA DOID:0111059 osteogenesis imperfecta, type xiii osteogenesis_imperfecta_type_xiii_2 Osteogenesis Imperfecta, Type Xiii BMP1 DOID:0110342 glycogen storage disease ixc glycogen_storage_disease_ixc Glycogen Storage Disease Ixc PHKG2 DOID:0111043 nephrotic syndrome, type 9 nephrotic_syndrome_type_9 Nephrotic Syndrome, Type 9 COQ8B waardenburg syndrome, type 4c waardenburg_syndrome_type_4c Waardenburg Syndrome, Type 4c SOX10 DOID:0110955 premature ovarian failure 11 premature_ovarian_failure_11 Premature Ovarian Failure 11 ERCC6 amelogenesis imperfecta, hypomaturation type, iia5 amelogenesis_imperfecta_hypomaturation_type_iia5 Amelogenesis Imperfecta, Hypomaturation Type, Iia5 SLC24A4 DOID:0110063 spherocytosis, type 4 spherocytosis_type_4 Spherocytosis, Type 4 SLC4A1 DOID:0110919 hyperlipoproteinemia, type id hyperlipoproteinemia_type_id Hyperlipoproteinemia, Type Id GPIHBP1 hypothyroidism, congenital, nongoitrous, 6 hypothyroidism_congenital_nongoitrous_6 Hypothyroidism, Congenital, Nongoitrous, 6 THRA birk-landau-perez syndrome birk_landau_perez_syndrome Birk-Landau-Perez Syndrome SLC30A9 spherocytosis, type 5 spherocytosis_type_5 Spherocytosis, Type 5 EPB42 DOID:0110920 amelogenesis imperfecta, type ih amelogenesis_imperfecta_type_ih Amelogenesis Imperfecta, Type Ih ITGB6 DOID:0110064 nail disorder, nonsyndromic congenital, 8 nail_disorder_nonsyndromic_congenital_8 Nail Disorder, Nonsyndromic Congenital, 8 COL7A1 DOID:0080086 night blindness, congenital stationary, type 1g night_blindness_congenital_stationary_type_1g Night Blindness, Congenital Stationary, Type 1g GNAT1 DOID:0110714 bile acid malabsorption, primary bile_acid_malabsorption_primary Bile Acid Malabsorption, Primary SLC10A2 amelogenesis imperfecta, hypomaturation type, iia6 amelogenesis_imperfecta_hypomaturation_type_iia6 Amelogenesis Imperfecta, Hypomaturation Type, Iia6 GPR68 maturity-onset diabetes of the young, type 13 maturity_onset_diabetes_of_the_young_type_13 Maturity-Onset Diabetes of the Young, Type 13 KCNJ11 DOID:0111110 maturity-onset diabetes of the young, type 6 maturity_onset_diabetes_of_the_young_type_6 Maturity-Onset Diabetes of the Young, Type 6 NEUROD1 DOID:0111104 vitamin d hydroxylation-deficient rickets, type 1b vitamin_d_hydroxylation_deficient_rickets_type_1b Vitamin D Hydroxylation-Deficient Rickets, Type 1b CYP2R1 albinism, oculocutaneous, type vi albinism_oculocutaneous_type_vi Albinism, Oculocutaneous, Type Vi SLC24A5 hyperuricemic nephropathy, familial juvenile, 4 hyperuricemic_nephropathy_familial_juvenile_4 Hyperuricemic Nephropathy, Familial Juvenile, 4 SEC61A1 3-hydroxyacyl-coa dehydrogenase deficiency 3_hydroxyacyl_coa_dehydrogenase_deficiency 3-Hydroxyacyl-Coa Dehydrogenase Deficiency HADH retinitis pigmentosa 54 retinitis_pigmentosa_54 Retinitis Pigmentosa 54 PCARE DOID:0110364 nephrotic syndrome, type 12 nephrotic_syndrome_type_12_2 Nephrotic Syndrome, Type 12 NUP93 hyperinsulinemic hypoglycemia, familial, 4 hyperinsulinemic_hypoglycemia_familial_4 Hyperinsulinemic Hypoglycemia, Familial, 4 HADH waardenburg syndrome, type 4b waardenburg_syndrome_type_4b Waardenburg Syndrome, Type 4b EDN3 DOID:0110954 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia corpus_callosum_agenesis_of_with_facial_anomalies_and_cerebellar_ataxia Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia FRMD4A anemia, congenital dyserythropoietic, type ib anemia_congenital_dyserythropoietic_type_ib Anemia, Congenital Dyserythropoietic, Type Ib C15orf41 hypothyroidism, congenital, nongoitrous, 5 hypothyroidism_congenital_nongoitrous_5_2 Hypothyroidism, Congenital, Nongoitrous, 5 NKX2-5 preeclampsia/eclampsia 5 preeclampsia_eclampsia_5 Preeclampsia/eclampsia 5 CORIN invasive pneumococcal disease, recurrent isolated, 2 invasive_pneumococcal_disease_recurrent_isolated_2 Invasive Pneumococcal Disease, Recurrent Isolated, 2 IKBKG osteogenesis imperfecta, type xvii osteogenesis_imperfecta_type_xvii Osteogenesis Imperfecta, Type Xvii SPARC DOID:0110338 mitochondrial complex iii deficiency, nuclear type 4 mitochondrial_complex_iii_deficiency_nuclear_type_4 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ DOID:0080113 brachydactyly, type a1, d brachydactyly_type_a1_d Brachydactyly, Type A1, D BMPR1B DOID:0110978 cataract 19, multiple types cataract_19_multiple_types_2 Cataract 19, Multiple Types LIM2 DOID:0110263 neuropathy, hereditary sensory and autonomic, type ic neuropathy_hereditary_sensory_and_autonomic_type_ic Neuropathy, Hereditary Sensory and Autonomic, Type Ic SPTLC2 DOID:0070157 microcephaly 15, primary, autosomal recessive microcephaly_15_primary_autosomal_recessive Microcephaly 15, Primary, Autosomal Recessive MFSD2A pigmented nodular adrenocortical disease, primary, 3 pigmented_nodular_adrenocortical_disease_primary_3 Pigmented Nodular Adrenocortical Disease, Primary, 3 PDE8B adenosine triphosphate, elevated, of erythrocytes adenosine_triphosphate_elevated_of_erythrocytes Adenosine Triphosphate, Elevated, of Erythrocytes PKLR nephrotic syndrome, type 11 nephrotic_syndrome_type_11_2 Nephrotic Syndrome, Type 11 NUP107 pontocerebellar hypoplasia, type 1c pontocerebellar_hypoplasia_type_1c Pontocerebellar Hypoplasia, Type 1c EXOSC8 exudative vitreoretinopathy 2, x-linked exudative_vitreoretinopathy_2_x_linked Exudative Vitreoretinopathy 2, X-Linked NDP mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COX14 DOID:3762 trichothiodystrophy 6, nonphotosensitive trichothiodystrophy_6_nonphotosensitive Trichothiodystrophy 6, Nonphotosensitive GTF2E2 night blindness, congenital stationary, type 1b night_blindness_congenital_stationary_type_1b Night Blindness, Congenital Stationary, Type 1b GRM6 DOID:0110865 mental retardation, autosomal recessive 2 mental_retardation_autosomal_recessive_2 Mental Retardation, Autosomal Recessive 2 CRBN lymphedema, hereditary, ic lymphedema_hereditary_ic Lymphedema, Hereditary, Ic GJC2 van buchem disease, type 2 van_buchem_disease_type_2_2 Van Buchem Disease, Type 2 LRP5 cerebrooculofacioskeletal syndrome 4 cerebrooculofacioskeletal_syndrome_4 Cerebrooculofacioskeletal Syndrome 4 ERCC1 focal cortical dysplasia, type ii focal_cortical_dysplasia_type_ii Focal Cortical Dysplasia, Type Ii TSC2 nystagmus 6, congenital, x-linked nystagmus_6_congenital_x_linked Nystagmus 6, Congenital, X-Linked GPR143 brachydactyly, type a1, c brachydactyly_type_a1_c Brachydactyly, Type A1, C GDF5 DOID:0110977 epiphyseal dysplasia, multiple, 3 epiphyseal_dysplasia_multiple_3 Epiphyseal Dysplasia, Multiple, 3 COL9A3 striatonigral degeneration, infantile striatonigral_degeneration_infantile_2 Striatonigral Degeneration, Infantile NUP62 hypomagnesemia 6, renal hypomagnesemia_6_renal Hypomagnesemia 6, Renal CNNM2 DOID:0060884 hypomagnesemia 4, renal hypomagnesemia_4_renal Hypomagnesemia 4, Renal EGF DOID:0060882 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent HNF1B DOID:9352 amelogenesis imperfecta, type ie amelogenesis_imperfecta_type_ie Amelogenesis Imperfecta, Type Ie AMELX DOID:0110058 charcot-marie-tooth disease, axonal, type 2b2 charcot_marie_tooth_disease_axonal_type_2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 MED25 DOID:0110179 night blindness, congenital stationary, type 1a night_blindness_congenital_stationary_type_1a Night Blindness, Congenital Stationary, Type 1a NYX DOID:0110870 osteogenesis imperfecta, type x osteogenesis_imperfecta_type_x_2 Osteogenesis Imperfecta, Type X SERPINH1 DOID:0110346 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia amyotrophic_lateral_sclerosis_10_with_or_without_frontotemporal_dementia Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia TARDBP DOID:0060201 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent PAX4 DOID:9352 hemophilia a hemophilia_a Hemophilia a F8 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent AKT2 DOID:9352 renal tubular dysgenesis renal_tubular_dysgenesis Renal Tubular Dysgenesis ACE thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 NRAS DOID:3962 spastic paralysis, infantile-onset ascending spastic_paralysis_infantile_onset_ascending_2 Spastic Paralysis, Infantile-Onset Ascending ALS2 developmental delay with short stature, dysmorphic features, and sparse hair developmental_delay_with_short_stature_dysmorphic_features_and_sparse_hair Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair DPH1 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 BBS1 DOID:0110123 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination neurodevelopmental_disorder_with_epilepsy_cataracts_feeding_difficulties_and_delayed_brain_myelination Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination NACC1 septooptic dysplasia septooptic_dysplasia Septooptic Dysplasia HESX1 DOID:0060857 thauvin-robinet-faivre syndrome thauvin_robinet_faivre_syndrome Thauvin-Robinet-Faivre Syndrome FIBP primary aldosteronism, seizures, and neurologic abnormalities primary_aldosteronism_seizures_and_neurologic_abnormalities Primary Aldosteronism, Seizures, and Neurologic Abnormalities CACNA1D episodic ataxia, type 5 episodic_ataxia_type_5_2 Episodic Ataxia, Type 5 CACNB4 DOID:0050993 au-kline syndrome au_kline_syndrome Au-Kline Syndrome HNRNPK spastic paraplegia 15, autosomal recessive spastic_paraplegia_15_autosomal_recessive Spastic Paraplegia 15, Autosomal Recessive ZFYVE26 DOID:0110768 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid FLT3 DOID:9119 epidermolysis bullosa pruriginosa epidermolysis_bullosa_pruriginosa Epidermolysis Bullosa Pruriginosa COL7A1 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency adrenal_hyperplasia_congenital_due_to_21_hydroxylase_deficiency Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency CYP21A2 arterial calcification, generalized, of infancy, 2 arterial_calcification_generalized_of_infancy_2 Arterial Calcification, Generalized, of Infancy, 2 ABCC6 arthrogryposis, distal, type 1a arthrogryposis_distal_type_1a Arthrogryposis, Distal, Type 1a TPM2 bartter syndrome, type 4b, neonatal, with sensorineural deafness bartter_syndrome_type_4b_neonatal_with_sensorineural_deafness Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness CLCNKA DOID:0110146 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction cardiomyopathy_dilated_1aa_with_or_without_left_ventricular_noncompaction Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction ACTN2 DOID:0110428 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction cardiomyopathy_dilated_1c_with_or_without_left_ventricular_noncompaction Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction LDB3 DOID:0110423 cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e TPM1 DOID:0110457 colorectal cancer, hereditary nonpolyposis, type 6 colorectal_cancer_hereditary_nonpolyposis_type_6 Colorectal Cancer, Hereditary Nonpolyposis, Type 6 TGFBR2 colorectal cancer, hereditary nonpolyposis, type 7 colorectal_cancer_hereditary_nonpolyposis_type_7 Colorectal Cancer, Hereditary Nonpolyposis, Type 7 MLH3 cone-rod synaptic disorder, congenital nonprogressive cone_rod_synaptic_disorder_congenital_nonprogressive Cone-Rod Synaptic Disorder, Congenital Nonprogressive CABP4 congenital disorder of glycosylation, type it congenital_disorder_of_glycosylation_type_it Congenital Disorder of Glycosylation, Type It PGM1 congenital heart defects, multiple types, 6 congenital_heart_defects_multiple_types_6 Congenital Heart Defects, Multiple Types, 6 GDF1 corneal dystrophy, lattice type iiia corneal_dystrophy_lattice_type_iiia Corneal Dystrophy, Lattice Type Iiia TGFBI corticosterone methyloxidase type ii deficiency corticosterone_methyloxidase_type_ii_deficiency Corticosterone Methyloxidase Type Ii Deficiency CYP11B2 crisponi/cold-induced sweating syndrome 2 crisponi_cold_induced_sweating_syndrome_2 Crisponi/cold-Induced Sweating Syndrome 2 CLCF1 crisponi/cold-induced sweating syndrome 3 crisponi_cold_induced_sweating_syndrome_3 Crisponi/cold-Induced Sweating Syndrome 3 KLHL7 cutis laxa, autosomal recessive, type ia cutis_laxa_autosomal_recessive_type_ia Cutis Laxa, Autosomal Recessive, Type Ia FBLN5 DOID:0070135 diabetes mellitus, transient neonatal, 3 diabetes_mellitus_transient_neonatal_3 Diabetes Mellitus, Transient Neonatal, 3 KCNJ11 ectodermal dysplasia, hypohidrotic, with immune deficiency ectodermal_dysplasia_hypohidrotic_with_immune_deficiency Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency IKBKG exostoses, multiple, type ii exostoses_multiple_type_ii Exostoses, Multiple, Type Ii EXT2 factor v and factor viii, combined deficiency of, 1 factor_v_and_factor_viii_combined_deficiency_of_1 Factor V and Factor Viii, Combined Deficiency of, 1 LMAN1 glycogen storage disease ixa1 glycogen_storage_disease_ixa1 Glycogen Storage Disease Ixa1 PHKA2 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i granulomatous_disease_chronic_autosomal_recessive_cytochrome_b_positive_type_i Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I NCF1 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii granulomatous_disease_chronic_autosomal_recessive_cytochrome_b_positive_type_ii Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii NCF2 hypoglycemia, leucine-induced hypoglycemia_leucine_induced Hypoglycemia, Leucine-Induced ABCC8 immunodeficiency without anhidrotic ectodermal dysplasia immunodeficiency_without_anhidrotic_ectodermal_dysplasia Immunodeficiency Without Anhidrotic Ectodermal Dysplasia IKBKG leukodystrophy, progressive, early childhood-onset leukodystrophy_progressive_early_childhood_onset Leukodystrophy, Progressive, Early Childhood-Onset ACER3 lipodystrophy, congenital generalized, type 1 lipodystrophy_congenital_generalized_type_1 Lipodystrophy, Congenital Generalized, Type 1 AGPAT2 DOID:0111135 lipodystrophy, congenital generalized, type 2 lipodystrophy_congenital_generalized_type_2 Lipodystrophy, Congenital Generalized, Type 2 BSCL2 DOID:0111136 lymphedema, hereditary, ia lymphedema_hereditary_ia Lymphedema, Hereditary, Ia FLT4 mental retardation, x-linked, syndromic, cabezas type mental_retardation_x_linked_syndromic_cabezas_type Mental Retardation, X-Linked, Syndromic, Cabezas Type CUL4B methemoglobinemia due to deficiency of methemoglobin reductase methemoglobinemia_due_to_deficiency_of_methemoglobin_reductase Methemoglobinemia Due to Deficiency of Methemoglobin Reductase CYB5R3 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COX8A DOID:3762 mitochondrial complex v deficiency, nuclear type 3 mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_3 Mitochondrial Complex V Deficiency, Nuclear Type 3 UQCRC2 DOID:0080114 mitochondrial dna depletion syndrome 12a , autosomal dominant mitochondrial_dna_depletion_syndrome_12a_autosomal_dominant Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant SLC25A4 mitochondrial dna depletion syndrome 12b , autosomal recessive mitochondrial_dna_depletion_syndrome_12b_autosomal_recessive Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive SLC25A4 muscular dystrophy-dystroglycanopathy , type a, 10 muscular_dystrophy_dystroglycanopathy_type_a_10 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 RXYLT1 muscular dystrophy-dystroglycanopathy , type a, 12 muscular_dystrophy_dystroglycanopathy_type_a_12 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 POMK muscular dystrophy-dystroglycanopathy , type a, 5 muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_5 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 FKRP muscular dystrophy-dystroglycanopathy , type a, 6 muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_6 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 LARGE1 muscular dystrophy-dystroglycanopathy , type b, 4 muscular_dystrophy_dystroglycanopathy_congenital_without_mental_retardation_type_b_4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 FKTN muscular dystrophy-dystroglycanopathy , type b, 6 muscular_dystrophy_dystroglycanopathy_congenital_with_mental_retardation_type_b_6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 LARGE1 DOID:0110637 neuronopathy, distal hereditary motor, type iia neuronopathy_distal_hereditary_motor_type_iia Neuronopathy, Distal Hereditary Motor, Type Iia HSPB8 neuronopathy, distal hereditary motor, type iib neuronopathy_distal_hereditary_motor_type_iib Neuronopathy, Distal Hereditary Motor, Type Iib HSPB1 neuronopathy, distal hereditary motor, type iid neuronopathy_distal_hereditary_motor_type_iid Neuronopathy, Distal Hereditary Motor, Type Iid FBXO38 neuropathy, hereditary sensory, type id neuropathy_hereditary_sensory_type_id Neuropathy, Hereditary Sensory, Type Id ATL1 DOID:0070156 neuropathy, hereditary sensory, type if neuropathy_hereditary_sensory_type_if Neuropathy, Hereditary Sensory, Type if ATL3 DOID:0070154 nevus, epidermal nevus_epidermal Nevus, Epidermal FGFR3 DOID:0111162 night blindness, congenital stationary, type 1c night_blindness_congenital_stationary_type_1c Night Blindness, Congenital Stationary, Type 1c TRPM1 DOID:0110867 night blindness, congenital stationary, type 1f night_blindness_congenital_stationary_type_1f Night Blindness, Congenital Stationary, Type 1f LRIT3 DOID:0110864 palmoplantar keratoderma, nonepidermolytic, focal 1 palmoplantar_keratoderma_nonepidermolytic_focal_1 Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 KRT16 parkinson disease 7, autosomal recessive early-onset parkinson_disease_7_autosomal_recessive_early_onset Parkinson Disease 7, Autosomal Recessive Early-Onset PARK7 DOID:0060370 polycystic kidney disease 3 with or without polycystic liver disease polycystic_kidney_disease_3_with_or_without_polycystic_liver_disease Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease GANAB DOID:0110860 progressive familial heart block, type ib progressive_familial_heart_block_type_ib Progressive Familial Heart Block, Type Ib TRPM4 DOID:0111076 pyropoikilocytosis, hereditary pyropoikilocytosis_hereditary_2 Pyropoikilocytosis, Hereditary SPTA1 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 MINPP1 DOID:3962 trichothiodystrophy 4, nonphotosensitive trichothiodystrophy_4_nonphotosensitive Trichothiodystrophy 4, Nonphotosensitive MPLKIP usher syndrome, type ig usher_syndrome_type_ig Usher Syndrome, Type Ig USH1G DOID:0110834 late-onset retinal degeneration late_onset_retinal_degeneration Late-Onset Retinal Degeneration C1QTNF5 DOID:0060869 sveinsson chorioretinal atrophy sveinsson_chorioretinal_atrophy Sveinsson Chorioretinal Atrophy TEAD1 hypothyroidism, congenital, nongoitrous, 4 hypothyroidism_congenital_nongoitrous_4_2 Hypothyroidism, Congenital, Nongoitrous, 4 TSHB tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot JAG1 DOID:6419 deafness, dystonia, and cerebral hypomyelination deafness_dystonia_and_cerebral_hypomyelination Deafness, Dystonia, and Cerebral Hypomyelination BCAP31 wolfram syndrome 1 wolfram_syndrome_1 Wolfram Syndrome 1 WFS1 DOID:0110629 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFB11 DOID:0060536 epidermolysis bullosa, junctional, non-herlitz type epidermolysis_bullosa_junctional_non_herlitz_type Epidermolysis Bullosa, Junctional, Non-Herlitz Type LAMC2 DOID:0060738 pigmented paravenous chorioretinal atrophy pigmented_paravenous_chorioretinal_atrophy Pigmented Paravenous Chorioretinal Atrophy CRB1 anencephaly anencephaly Anencephaly TRIM36 DOID:0060668 monocarboxylate transporter 1 deficiency monocarboxylate_transporter_1_deficiency Monocarboxylate Transporter 1 Deficiency SLC16A1 morbid obesity and spermatogenic failure morbid_obesity_and_spermatogenic_failure Morbid Obesity and Spermatogenic Failure CEP19 keratosis pilaris atrophicans keratosis_pilaris_atrophicans Keratosis Pilaris Atrophicans LRP1 harel-yoon syndrome harel_yoon_syndrome Harel-Yoon Syndrome ATAD3A dyssegmental dysplasia, silverman-handmaker type dyssegmental_dysplasia_silverman_handmaker_type_2 Dyssegmental Dysplasia, Silverman-Handmaker Type HSPG2 DOID:0090032 myopathy, myofibrillar, 7 myopathy_myofibrillar_7 Myopathy, Myofibrillar, 7 KY DOID:0080098 dimethylglycine dehydrogenase deficiency dimethylglycine_dehydrogenase_deficiency Dimethylglycine Dehydrogenase Deficiency DMGDH riboflavin deficiency riboflavin_deficiency Riboflavin Deficiency SLC52A1 pontocerebellar hypoplasia, type 10 pontocerebellar_hypoplasia_type_10 Pontocerebellar Hypoplasia, Type 10 CLP1 DOID:0060279 tumor predisposition syndrome tumor_predisposition_syndrome Tumor Predisposition Syndrome BAP1 spondylocostal dysostosis 3, autosomal recessive spondylocostal_dysostosis_3_autosomal_recessive Spondylocostal Dysostosis 3, Autosomal Recessive LFNG DOID:0050568 grange syndrome grange_syndrome Grange Syndrome YY1AP1 spondyloocular syndrome spondyloocular_syndrome Spondyloocular Syndrome XYLT2 ciliary dyskinesia, primary, 37 ciliary_dyskinesia_primary_37 Ciliary Dyskinesia, Primary, 37 DNAH1 DOID:0080266 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis exocrine_pancreatic_insufficiency_dyserythropoietic_anemia_and_calvarial_hyperostosis Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis COX4I2 myopathy, spheroid body myopathy_spheroid_body Myopathy, Spheroid Body MYOT DOID:0080091 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies intellectual_developmental_disorder_with_dysmorphic_facies_seizures_and_distal_limb_anomalies Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies OTUD6B neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive neuropathy_hereditary_sensory_with_spastic_paraplegia_autosomal_recessive Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive CCT5 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain_eye_or_heart Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart RERE myasthenic syndrome, congenital, 17 myasthenic_syndrome_congenital_17 Myasthenic Syndrome, Congenital, 17 LRP4 DOID:0110674 epilepsy, familial temporal lobe, 8 epilepsy_familial_temporal_lobe_8 Epilepsy, Familial Temporal Lobe, 8 GAL DOID:0060754 cerebellar atrophy, visual impairment, and psychomotor retardation cerebellar_atrophy_visual_impairment_and_psychomotor_retardation Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation EMC1 neurodegeneration due to cerebral folate transport deficiency neurodegeneration_due_to_cerebral_folate_transport_deficiency Neurodegeneration Due to Cerebral Folate Transport Deficiency FOLR1 pituitary adenoma 5, multiple types pituitary_adenoma_5_multiple_types Pituitary Adenoma 5, Multiple Types CDH23 febrile seizures, familial, 11 febrile_seizures_familial_11 Febrile Seizures, Familial, 11 CPA6 pituitary adenoma 4, acth-secreting pituitary_adenoma_4_acth_secreting Pituitary Adenoma 4, Acth-Secreting USP8 sudden cardiac failure, alcohol-induced sudden_cardiac_failure_alcohol_induced Sudden Cardiac Failure, Alcohol-Induced PPA2 masp2 deficiency masp2_deficiency Masp2 Deficiency MASP2 achondroplasia, severe, with developmental delay and acanthosis nigricans achondroplasia_severe_with_developmental_delay_and_acanthosis_nigricans Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans FGFR3 DOID:0111158 encephalopathy, progressive, early-onset, with brain atrophy and spasticity encephalopathy_progressive_early_onset_with_brain_atrophy_and_spasticity Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity TRAPPC12 facial palsy, congenital, with ptosis and velopharyngeal dysfunction facial_palsy_congenital_with_ptosis_and_velopharyngeal_dysfunction Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction TUBB6 exercise intolerance, riboflavin-responsive exercise_intolerance_riboflavin_responsive Exercise Intolerance, Riboflavin-Responsive SLC25A32 retinitis pigmentosa with or without skeletal anomalies retinitis_pigmentosa_with_or_without_skeletal_anomalies Retinitis Pigmentosa with or Without Skeletal Anomalies CWC27 coenzyme q10 deficiency, primary, 8 coenzyme_q10_deficiency_primary_8 Coenzyme Q10 Deficiency, Primary, 8 COQ7 premature ovarian failure 13 premature_ovarian_failure_13 Premature Ovarian Failure 13 MSH5 aplasia of lacrimal and salivary glands aplasia_of_lacrimal_and_salivary_glands Aplasia of Lacrimal and Salivary Glands FGF10 spinocerebellar ataxia, autosomal recessive 26 spinocerebellar_ataxia_autosomal_recessive_26 Spinocerebellar Ataxia, Autosomal Recessive 26 XRCC1 DOID:0080260 mental retardation, autosomal recessive 52 mental_retardation_autosomal_recessive_52 Mental Retardation, Autosomal Recessive 52 LMAN2L testicular germ cell tumor testicular_germ_cell_tumor Testicular Germ Cell Tumor KIT spinocerebellar ataxia, autosomal recessive 25 spinocerebellar_ataxia_autosomal_recessive_25 Spinocerebellar Ataxia, Autosomal Recessive 25 ATG5 DOID:0080259 deafness, autosomal dominant 71 deafness_autosomal_dominant_71 Deafness, Autosomal Dominant 71 DMXL2 neurodevelopmental disorder with microcephaly, ataxia, and seizures neurodevelopmental_disorder_with_microcephaly_ataxia_and_seizures Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures SARS spermatogenic failure 17 spermatogenic_failure_17 Spermatogenic Failure 17 PLCZ1 mental retardation, autosomal recessive 50 mental_retardation_autosomal_recessive_50 Mental Retardation, Autosomal Recessive 50 EDC3 deafness, autosomal recessive 108 deafness_autosomal_recessive_108 Deafness, Autosomal Recessive 108 ROR1 deafness, autosomal dominant 72 deafness_autosomal_dominant_72 Deafness, Autosomal Dominant 72 SLC44A4 hypotonia, infantile, with psychomotor retardation hypotonia_infantile_with_psychomotor_retardation Hypotonia, Infantile, with Psychomotor Retardation CCDC174 spermatogenic failure 22 spermatogenic_failure_22 Spermatogenic Failure 22 MEIOB wilms tumor 5 wilms_tumor_5 Wilms Tumor 5 POU6F2 immunodeficiency 49 immunodeficiency_49 Immunodeficiency 49 BCL11B aniridia 3 aniridia_3 Aniridia 3 TRIM44 immunodeficiency 20 immunodeficiency_20 Immunodeficiency 20 FCGR3A immunodeficiency 52 immunodeficiency_52 Immunodeficiency 52 LAT gapo syndrome gapo_syndrome Gapo Syndrome ANTXR1 spastic paraplegia 18, autosomal recessive spastic_paraplegia_18_autosomal_recessive Spastic Paraplegia 18, Autosomal Recessive ERLIN2 DOID:0110771 dysfibrinogenemia, congenital dysfibrinogenemia_congenital Dysfibrinogenemia, Congenital FGB ck syndrome ck_syndrome Ck Syndrome NSDHL epidermolysis bullosa, junctional, herlitz type epidermolysis_bullosa_junctional_herlitz_type Epidermolysis Bullosa, Junctional, Herlitz Type LAMC2 DOID:0060737 trehalase deficiency trehalase_deficiency Trehalase Deficiency TREH myopathy, myofibrillar, 4 myopathy_myofibrillar_4 Myopathy, Myofibrillar, 4 LDB3 DOID:0080095 congenital disorder of glycosylation, type iy congenital_disorder_of_glycosylation_type_iy Congenital Disorder of Glycosylation, Type Iy SSR4 epilepsy, myoclonic juvenile epilepsy_myoclonic_juvenile Epilepsy, Myoclonic Juvenile EFHC1 deafness, autosomal dominant 6 deafness_autosomal_dominant_6 Deafness, Autosomal Dominant 6 WFS1 DOID:0110584 isolated growth hormone deficiency, type ia isolated_growth_hormone_deficiency_type_ia Isolated Growth Hormone Deficiency, Type Ia GH1 DOID:0060873 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma LTBP2 mental retardation, x-linked, associated with fragile site fraxe mental_retardation_x_linked_associated_with_fragile_site_fraxe Mental Retardation, X-Linked, Associated with Fragile Site Fraxe AFF2 short stature, hearing loss, retinitis pigmentosa, and distinctive facies short_stature_hearing_loss_retinitis_pigmentosa_and_distinctive_facies Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies EXOSC2 dystonia 1, torsion, autosomal dominant dystonia_1_torsion_autosomal_dominant Dystonia 1, Torsion, Autosomal Dominant TOR1A DOID:0060730 epidermolysis bullosa, junctional, herlitz type epidermolysis_bullosa_junctional_herlitz_type Epidermolysis Bullosa, Junctional, Herlitz Type LAMA3 DOID:0060737 mental retardation, x-linked, syndromic, christianson type mental_retardation_x_linked_syndromic_christianson_type_2 Mental Retardation, X-Linked, Syndromic, Christianson Type SLC9A6 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly metaphyseal_dysplasia_with_maxillary_hypoplasia_with_or_without_brachydactyly Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly RUNX2 focal facial dermal dysplasia 4 focal_facial_dermal_dysplasia_4 Focal Facial Dermal Dysplasia 4 CYP26C1 galloway-mowat syndrome 1 galloway_mowat_syndrome_1 Galloway-Mowat Syndrome 1 WDR73 erythrokeratodermia variabilis et progressiva 5 erythrokeratodermia_variabilis_et_progressiva_5 Erythrokeratodermia Variabilis Et Progressiva 5 KRT83 DOID:0080251 geroderma osteodysplasticum geroderma_osteodysplasticum Geroderma Osteodysplasticum GORAB autoimmune disease, multisystem, with facial dysmorphism autoimmune_disease_multisystem_with_facial_dysmorphism Autoimmune Disease, Multisystem, with Facial Dysmorphism ITCH orofaciodigital syndrome iv orofaciodigital_syndrome_iv Orofaciodigital Syndrome Iv TCTN3 DOID:0060374 peeling skin syndrome 1 peeling_skin_syndrome_1 Peeling Skin Syndrome 1 CDSN wagner vitreoretinopathy wagner_vitreoretinopathy Wagner Vitreoretinopathy VCAN spinocerebellar ataxia 37 spinocerebellar_ataxia_37 Spinocerebellar Ataxia 37 DAB1 DOID:0050984 spermatogenic failure 5 spermatogenic_failure_5 Spermatogenic Failure 5 AURKC thyroid cancer, nonmedullary, 4 thyroid_cancer_nonmedullary_4 Thyroid Cancer, Nonmedullary, 4 FOXE1 immunodeficiency 55 immunodeficiency_55 Immunodeficiency 55 GINS1 isolated growth hormone deficiency, type iii isolated_growth_hormone_deficiency_type_iii Isolated Growth Hormone Deficiency, Type Iii BTK DOID:0060875 acth-independent macronodular adrenal hyperplasia acth_independent_macronodular_adrenal_hyperplasia Acth-Independent Macronodular Adrenal Hyperplasia GNAS cockayne syndrome a cockayne_syndrome_a Cockayne Syndrome a ERCC8 myotonia congenita, autosomal recessive myotonia_congenita_autosomal_recessive_2 Myotonia Congenita, Autosomal Recessive CLCN1 epidermolysis bullosa, junctional, non-herlitz type epidermolysis_bullosa_junctional_non_herlitz_type Epidermolysis Bullosa, Junctional, Non-Herlitz Type LAMA3 DOID:0060738 hyperkalemic periodic paralysis hyperkalemic_periodic_paralysis Hyperkalemic Periodic Paralysis SCN4A DOID:14451 esophageal cancer esophageal_cancer Esophageal Cancer TGFBR2 DOID:5041 ankyloblepharon-ectodermal defects-cleft lip/palate ankyloblepharon_ectodermal_defects_cleft_lip_palate Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate TP63 DOID:0090119 xeroderma pigmentosum, complementation group e xeroderma_pigmentosum_complementation_group_e Xeroderma Pigmentosum, Complementation Group E DDB2 sarcosinemia sarcosinemia Sarcosinemia SARDH inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 inclusion_body_myopathy_with_early_onset_paget_disease_with_or_without_frontotemporal_dementia_1 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 VCP neutropenia, severe congenital, 1, autosomal dominant neutropenia_severe_congenital_1_autosomal_dominant_2 Neutropenia, Severe Congenital, 1, Autosomal Dominant ELANE thrombophilia due to protein c deficiency, autosomal dominant thrombophilia_due_to_protein_c_deficiency_autosomal_dominant Thrombophilia Due to Protein C Deficiency, Autosomal Dominant PROC epileptic encephalopathy, early infantile, 13 epileptic_encephalopathy_early_infantile_13 Epileptic Encephalopathy, Early Infantile, 13 SCN8A ectopia lentis 1, isolated, autosomal dominant ectopia_lentis_1_isolated_autosomal_dominant Ectopia Lentis 1, Isolated, Autosomal Dominant FBN1 DOID:0111150 cornelia de lange syndrome 2 cornelia_de_lange_syndrome_2 Cornelia De Lange Syndrome 2 SMC1A neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies neurodevelopmental_disorder_with_microcephaly_hypotonia_and_variable_brain_anomalies Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies PRUNE1 hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic_hypogonadism_3_with_or_without_anosmia Hypogonadotropic Hypogonadism 3 with or Without Anosmia PROKR2 DOID:0090092 galactose epimerase deficiency galactose_epimerase_deficiency Galactose Epimerase Deficiency GALE epileptic encephalopathy, early infantile, 2 epileptic_encephalopathy_early_infantile_2 Epileptic Encephalopathy, Early Infantile, 2 CDKL5 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities encephalopathy_neonatal_severe_with_lactic_acidosis_and_brain_abnormalities Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities LIPT2 myopathy, congenital, with fiber-type disproportion myopathy_congenital_with_fiber_type_disproportion Myopathy, Congenital, with Fiber-Type Disproportion TPM3 myotonia congenita, autosomal dominant myotonia_congenita_autosomal_dominant_2 Myotonia Congenita, Autosomal Dominant CLCN1 mental retardation, x-linked 61 mental_retardation_x_linked_61 Mental Retardation, X-Linked 61 RLIM epileptic encephalopathy, early infantile, 17 epileptic_encephalopathy_early_infantile_17 Epileptic Encephalopathy, Early Infantile, 17 GNAO1 combined oxidative phosphorylation deficiency 32 combined_oxidative_phosphorylation_deficiency_32 Combined Oxidative Phosphorylation Deficiency 32 MRPS34 anterior segment dysgenesis 5 anterior_segment_dysgenesis_5 Anterior Segment Dysgenesis 5 PAX6 epileptic encephalopathy, early infantile, 38 epileptic_encephalopathy_early_infantile_38 Epileptic Encephalopathy, Early Infantile, 38 ARV1 myopathy, myosin storage, autosomal dominant myopathy_myosin_storage_autosomal_dominant Myopathy, Myosin Storage, Autosomal Dominant MYH7 pituitary adenoma 1, multiple types pituitary_adenoma_1_multiple_types Pituitary Adenoma 1, Multiple Types AIP cornea plana 2, autosomal recessive cornea_plana_2_autosomal_recessive Cornea Plana 2, Autosomal Recessive KERA peroxisome biogenesis disorder 1a peroxisome_biogenesis_disorder_1a Peroxisome Biogenesis Disorder 1a PEX1 frontometaphyseal dysplasia 1 frontometaphyseal_dysplasia_1 Frontometaphyseal Dysplasia 1 FLNA epileptic encephalopathy, early infantile, 3 epileptic_encephalopathy_early_infantile_3 Epileptic Encephalopathy, Early Infantile, 3 SLC25A22 kleefstra syndrome 1 kleefstra_syndrome_1 Kleefstra Syndrome 1 EHMT1 perrault syndrome 1 perrault_syndrome_1 Perrault Syndrome 1 HSD17B4 3-methylglutaconic aciduria, type ix 3_methylglutaconic_aciduria_type_ix 3-Methylglutaconic Aciduria, Type Ix TIMM50 amyloidosis, familial visceral amyloidosis_familial_visceral Amyloidosis, Familial Visceral B2M DOID:0050636 anemia, x-linked, with or without neutropenia and/or platelet abnormalities anemia_x_linked_with_or_without_neutropenia_and_or_platelet_abnormalities Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities GATA1 congenital disorder of glycosylation, type ii congenital_disorder_of_glycosylation_type_ii_2 Congenital Disorder of Glycosylation, Type Ii COG7 DOID:0050571 congenital disorder of glycosylation, type iig congenital_disorder_of_glycosylation_type_iig Congenital Disorder of Glycosylation, Type Iig COG1 ehlers-danlos syndrome, arthrochalasia type, 1 ehlers_danlos_syndrome_arthrochalasia_type_1 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 COL1A1 mitochondrial complex v deficiency, nuclear type 1 mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_1 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 DOID:0050768 mitochondrial complex v deficiency, nuclear type 3 mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_3 Mitochondrial Complex V Deficiency, Nuclear Type 3 ATP5F1E DOID:0080114 optic disc anomalies with retinal and/or macular dystrophy optic_disc_anomalies_with_retinal_and_or_macular_dystrophy Optic Disc Anomalies with Retinal and/or Macular Dystrophy SIX6 renal hypodysplasia/aplasia 3 renal_hypodysplasia_aplasia_3 Renal Hypodysplasia/aplasia 3 GREB1L schimmelpenning-feuerstein-mims syndrome schimmelpenning_feuerstein_mims_syndrome Schimmelpenning-Feuerstein-Mims Syndrome KRAS spondyloepimetaphyseal dysplasia, shohat type spondyloepimetaphyseal_dysplasia_shohat_type_2 Spondyloepimetaphyseal Dysplasia, Shohat Type DDRGK1 duane retraction syndrome 2 duane_retraction_syndrome_2 Duane Retraction Syndrome 2 CHN1 nephronophthisis 2 nephronophthisis_2 Nephronophthisis 2 INVS DOID:0111113 carboxypeptidase n deficiency carboxypeptidase_n_deficiency Carboxypeptidase N Deficiency CPN1 cataract 1, multiple types cataract_1_multiple_types Cataract 1, Multiple Types GJA8 DOID:0110231 anterior segment dysgenesis 4 anterior_segment_dysgenesis_4 Anterior Segment Dysgenesis 4 PITX2 DOID:0050786 lipoid congenital adrenal hyperplasia lipoid_congenital_adrenal_hyperplasia Lipoid Congenital Adrenal Hyperplasia STAR DOID:0050811 preeclampsia/eclampsia 4 preeclampsia_eclampsia_4 Preeclampsia/eclampsia 4 STOX1 nephrotic syndrome, type 2 nephrotic_syndrome_type_2 Nephrotic Syndrome, Type 2 NPHS2 cervical cancer cervical_cancer Cervical Cancer FGFR3 DOID:4362 schinzel-giedion midface retraction syndrome schinzel_giedion_midface_retraction_syndrome Schinzel-Giedion Midface Retraction Syndrome SETBP1 oocyte maturation defect 2 oocyte_maturation_defect_2 Oocyte Maturation Defect 2 TUBB8 patent ductus arteriosus 3 patent_ductus_arteriosus_3 Patent Ductus Arteriosus 3 PRDM6 leukodystrophy and acquired microcephaly with or without dystonia leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia Leukodystrophy and Acquired Microcephaly with or Without Dystonia PLEKHG2 paget disease of bone 3 paget_disease_of_bone_3 Paget Disease of Bone 3 SQSTM1 cataract 46, juvenile-onset cataract_46_juvenile_onset_2 Cataract 46, Juvenile-Onset LEMD2 DOID:0110243 retinitis pigmentosa 77 retinitis_pigmentosa_77 Retinitis Pigmentosa 77 REEP6 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency SCO1 DOID:3762 3mc syndrome 2 3mc_syndrome_2 3mc Syndrome 2 COLEC11 DOID:0060576 behr syndrome behr_syndrome Behr Syndrome OPA1 helix syndrome helix_syndrome Helix Syndrome CLDN10 deafness, autosomal dominant 2a deafness_autosomal_dominant_2a Deafness, Autosomal Dominant 2a KCNQ4 DOID:0110558 hyperekplexia 1 hyperekplexia_1 Hyperekplexia 1 GLRA1 DOID:0060696 deafness, autosomal dominant 17 deafness_autosomal_dominant_17 Deafness, Autosomal Dominant 17 MYH9 DOID:0110548 thrombophilia due to protein s deficiency, autosomal dominant thrombophilia_due_to_protein_s_deficiency_autosomal_dominant Thrombophilia Due to Protein S Deficiency, Autosomal Dominant PROS1 muscular dystrophy-dystroglycanopathy , type b, 5 muscular_dystrophy_dystroglycanopathy_congenital_with_or_without_mental_retardation_type_b_5 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 FKRP DOID:0110635 diabetes insipidus, nephrogenic, x-linked diabetes_insipidus_nephrogenic_x_linked Diabetes Insipidus, Nephrogenic, X-Linked AVPR2 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema dehydrated_hereditary_stomatocytosis_1_with_or_without_pseudohyperkalemia_and_or_perinatal_edema Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema PIEZO1 orofaciodigital syndrome i orofaciodigital_syndrome_i Orofaciodigital Syndrome I OFD1 DOID:0060316 spermatogenic failure 18 spermatogenic_failure_18 Spermatogenic Failure 18 DNAH1 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia amyotrophic_lateral_sclerosis_6_with_or_without_frontotemporal_dementia_2 Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia FUS neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures neurodevelopmental_disorder_mitochondrial_with_abnormal_movements_and_lactic_acidosis_with_or_without_seizures Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures WARS2 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder congenital_heart_defects_dysmorphic_facial_features_and_intellectual_developmental_disorder Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder CDK13 immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency_centromeric_instability_facial_anomalies_syndrome_1 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 DNMT3B DOID:0090008 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency glucocorticoid_deficiency_4_with_or_without_mineralocorticoid_deficiency_2 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency NNT cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 cardioencephalomyopathy_fatal_infantile_due_to_cytochrome_c_oxidase_deficiency_1 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 SCO2 epidermolysis bullosa dystrophica, autosomal dominant epidermolysis_bullosa_dystrophica_autosomal_dominant Epidermolysis Bullosa Dystrophica, Autosomal Dominant COL7A1 DOID:0080224 noonan syndrome-like disorder with loose anagen hair 2 noonan_syndrome_like_disorder_with_loose_anagen_hair_2 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 PPP1CB reducing body myopathy, x-linked 1b, with late childhood or adult onset reducing_body_myopathy_x_linked_1b_with_late_childhood_or_adult_onset Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset FHL1 language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia language_delay_and_attention_deficit_hyperactivity_disorder_cognitive_impairment_with_or_without_cardiac_arrhythmia Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia GNB5 amyloidosis, familial visceral amyloidosis_familial_visceral Amyloidosis, Familial Visceral APOA1 DOID:0050636 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy growth_retardation_intellectual_developmental_disorder_hypotonia_and_hepatopathy Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy IARS hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic_hypogonadism_5_with_or_without_anosmia Hypogonadotropic Hypogonadism 5 with or Without Anosmia CHD7 DOID:0090084 immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency_centromeric_instability_facial_anomalies_syndrome_3 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 CDCA7 DOID:0090010 skin creases, congenital symmetric circumferential, 2 skin_creases_congenital_symmetric_circumferential_2 Skin Creases, Congenital Symmetric Circumferential, 2 MAPRE2 sifrim-hitz-weiss syndrome sifrim_hitz_weiss_syndrome Sifrim-Hitz-Weiss Syndrome CHD4 porokeratosis 8, disseminated superficial actinic type porokeratosis_8_disseminated_superficial_actinic_type Porokeratosis 8, Disseminated Superficial Actinic Type SLC17A9 intellectual developmental disorder with dysmorphic facies and ptosis intellectual_developmental_disorder_with_dysmorphic_facies_and_ptosis Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis BRPF1 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis midface_hypoplasia_hearing_impairment_elliptocytosis_and_nephrocalcinosis Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis AMMECR1 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency myasthenic_syndrome_congenital_4c_associated_with_acetylcholine_receptor_deficiency Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency CHRNE DOID:0110679 myasthenic syndrome, congenital, 1a, slow-channel myasthenic_syndrome_congenital_1a_slow_channel Myasthenic Syndrome, Congenital, 1a, Slow-Channel CHRNA1 DOID:0110681 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy complement_hyperactivation_angiopathic_thrombosis_and_protein_losing_enteropathy Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy CD55 muscular dystrophy, congenital, with cataracts and intellectual disability muscular_dystrophy_congenital_with_cataracts_and_intellectual_disability Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability INPP5K DOID:0080197 pulmonary hypertension, primary, 1 pulmonary_hypertension_primary_1 Pulmonary Hypertension, Primary, 1 BMPR2 neurodevelopmental disorder with hypotonia, seizures, and absent language neurodevelopmental_disorder_with_hypotonia_seizures_and_absent_language Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language HECW2 galloway-mowat syndrome 3 galloway_mowat_syndrome_3 Galloway-Mowat Syndrome 3 OSGEP DOID:0080245 microcephaly 2, primary, autosomal recessive, with or without cortical malformations microcephaly_2_primary_autosomal_recessive_with_or_without_cortical_malformations Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations WDR62 ehlers-danlos syndrome, musculocontractural type, 1 ehlers_danlos_syndrome_musculocontractural_type_1_2 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 CHST14 microcephaly, short stature, and limb abnormalities microcephaly_short_stature_and_limb_abnormalities Microcephaly, Short Stature, and Limb Abnormalities DONSON lopes-maciel-rodan syndrome lopes_maciel_rodan_syndrome Lopes-Maciel-Rodan Syndrome HTT avascular necrosis of femoral head, primary, 1 avascular_necrosis_of_femoral_head_primary_1 Avascular Necrosis of Femoral Head, Primary, 1 COL2A1 combined oxidative phosphorylation deficiency 33 combined_oxidative_phosphorylation_deficiency_33 Combined Oxidative Phosphorylation Deficiency 33 C1QBP okur-chung neurodevelopmental syndrome okur_chung_neurodevelopmental_syndrome Okur-Chung Neurodevelopmental Syndrome CSNK2A1 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies diarrhea_3_secretory_sodium_congenital_with_or_without_other_congenital_anomalies Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies SPINT2 DOID:0060781 epileptic encephalopathy, early infantile, 14 epileptic_encephalopathy_early_infantile_14 Epileptic Encephalopathy, Early Infantile, 14 KCNT1 keratosis follicularis spinulosa decalvans, x-linked keratosis_follicularis_spinulosa_decalvans_x_linked Keratosis Follicularis Spinulosa Decalvans, X-Linked MBTPS2 cerebroretinal microangiopathy with calcifications and cysts 2 cerebroretinal_microangiopathy_with_calcifications_and_cysts_2 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 STN1 hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic_hypogonadism_6_with_or_without_anosmia Hypogonadotropic Hypogonadism 6 with or Without Anosmia FGF8 DOID:0090086 hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic_hypogonadism_4_with_or_without_anosmia Hypogonadotropic Hypogonadism 4 with or Without Anosmia PROK2 DOID:0090077 oocyte maturation defect 4 oocyte_maturation_defect_4 Oocyte Maturation Defect 4 PATL2 skin creases, congenital symmetric circumferential, 1 skin_creases_congenital_symmetric_circumferential_1 Skin Creases, Congenital Symmetric Circumferential, 1 TUBB porokeratosis 7, multiple types porokeratosis_7_multiple_types Porokeratosis 7, Multiple Types MVD preimplantation embryonic lethality 2 preimplantation_embryonic_lethality_2 Preimplantation Embryonic Lethality 2 PADI6 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies neurodevelopmental_disorder_with_progressive_microcephaly_spasticity_and_brain_anomalies Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies PLAA immunodeficiency 11b with atopic dermatitis immunodeficiency_11b_with_atopic_dermatitis Immunodeficiency 11b with Atopic Dermatitis CARD11 lung disease, immunodeficiency, and chromosome breakage syndrome lung_disease_immunodeficiency_and_chromosome_breakage_syndrome Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome NSMCE3 mental retardation, x-linked 97 mental_retardation_x_linked_97 Mental Retardation, X-Linked 97 ZNF711 symphalangism, proximal, 1a symphalangism_proximal_1a Symphalangism, Proximal, 1a NOG glaucoma 3, primary congenital, e glaucoma_3_primary_congenital_e Glaucoma 3, Primary Congenital, E TEK sudden cardiac failure, infantile sudden_cardiac_failure_infantile Sudden Cardiac Failure, Infantile PPA2 galloway-mowat syndrome 2, x-linked galloway_mowat_syndrome_2_x_linked Galloway-Mowat Syndrome 2, X-Linked LAGE3 mental retardation, x-linked 106 mental_retardation_x_linked_106 Mental Retardation, X-Linked 106 OGT DOID:0080240 mitral valve prolapse 2 mitral_valve_prolapse_2 Mitral Valve Prolapse 2 DCHS1 congenital heart defects and skeletal malformations syndrome congenital_heart_defects_and_skeletal_malformations_syndrome Congenital Heart Defects and Skeletal Malformations Syndrome ABL1 ectodermal dysplasia 13, hair/tooth type ectodermal_dysplasia_13_hair_tooth_type Ectodermal Dysplasia 13, Hair/tooth Type KREMEN1 peroxisome biogenesis disorder 3b peroxisome_biogenesis_disorder_3b Peroxisome Biogenesis Disorder 3b PEX12 intellectual developmental disorder with neuropsychiatric features intellectual_developmental_disorder_with_neuropsychiatric_features Intellectual Developmental Disorder with Neuropsychiatric Features SLC45A1 myopathy due to myoadenylate deaminase deficiency myopathy_due_to_myoadenylate_deaminase_deficiency Myopathy Due to Myoadenylate Deaminase Deficiency AMPD1 cerebral palsy, spastic quadriplegic, 3 cerebral_palsy_spastic_quadriplegic_3 Cerebral Palsy, Spastic Quadriplegic, 3 ADD3 auditory neuropathy and optic atrophy auditory_neuropathy_and_optic_atrophy Auditory Neuropathy and Optic Atrophy FDXR epileptic encephalopathy, early infantile, 56 epileptic_encephalopathy_early_infantile_56 Epileptic Encephalopathy, Early Infantile, 56 YWHAG galloway-mowat syndrome 4 galloway_mowat_syndrome_4 Galloway-Mowat Syndrome 4 TP53RK DOID:0080246 mental retardation, x-linked 105 mental_retardation_x_linked_105 Mental Retardation, X-Linked 105 USP27X spermatogenic failure 16 spermatogenic_failure_16 Spermatogenic Failure 16 SUN5 anterior segment dysgenesis 8 anterior_segment_dysgenesis_8 Anterior Segment Dysgenesis 8 CPAMD8 myopathy, congenital, with fiber-type disproportion myopathy_congenital_with_fiber_type_disproportion Myopathy, Congenital, with Fiber-Type Disproportion ACTA1 preimplantation embryonic lethality 1 preimplantation_embryonic_lethality_1 Preimplantation Embryonic Lethality 1 TLE6 vacterl association, x-linked, with or without hydrocephalus vacterl_association_x_linked_with_or_without_hydrocephalus Vacterl Association, X-Linked, with or Without Hydrocephalus ZIC3 mental retardation, autosomal recessive 34, with variant lissencephaly mental_retardation_autosomal_recessive_34_with_variant_lissencephaly Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly CRADD congenital heart defects and ectodermal dysplasia congenital_heart_defects_and_ectodermal_dysplasia Congenital Heart Defects and Ectodermal Dysplasia PRKD1 hypercalcemia, infantile, 2 hypercalcemia_infantile_2 Hypercalcemia, Infantile, 2 SLC34A1 tooth agenesis, selective, 9 tooth_agenesis_selective_9 Tooth Agenesis, Selective, 9 GREM2 ichthyosis, congenital, autosomal recessive 13 ichthyosis_congenital_autosomal_recessive_13 Ichthyosis, Congenital, Autosomal Recessive 13 SDR9C7 DOID:0080257 pilarowski-bjornsson syndrome pilarowski_bjornsson_syndrome Pilarowski-Bjornsson Syndrome CHD1 mental retardation, autosomal recessive 60 mental_retardation_autosomal_recessive_60 Mental Retardation, Autosomal Recessive 60 TAF13 mental retardation, autosomal recessive 51 mental_retardation_autosomal_recessive_51 Mental Retardation, Autosomal Recessive 51 HNMT thyroid dyshormonogenesis 3 thyroid_dyshormonogenesis_3 Thyroid Dyshormonogenesis 3 TG tooth agenesis, selective, 8 tooth_agenesis_selective_8 Tooth Agenesis, Selective, 8 WNT10B cardiac valvular defect, developmental cardiac_valvular_defect_developmental Cardiac Valvular Defect, Developmental PLD1 woolly hair, autosomal recessive 3 woolly_hair_autosomal_recessive_3_2 Woolly Hair, Autosomal Recessive 3 KRT25 anauxetic dysplasia 2 anauxetic_dysplasia_2 Anauxetic Dysplasia 2 POP1 mental retardation, autosomal dominant 46 mental_retardation_autosomal_dominant_46 Mental Retardation, Autosomal Dominant 46 KCNQ5 DOID:0080237 cardiomyopathy, familial hypertrophic, 25 cardiomyopathy_familial_hypertrophic_25 Cardiomyopathy, Familial Hypertrophic, 25 TCAP DOID:0110328 brachycephaly, trichomegaly, and developmental delay brachycephaly_trichomegaly_and_developmental_delay Brachycephaly, Trichomegaly, and Developmental Delay RPS23 epiphyseal dysplasia, multiple, 7 epiphyseal_dysplasia_multiple_7 Epiphyseal Dysplasia, Multiple, 7 CANT1 myopathy, myofibrillar, 8 myopathy_myofibrillar_8 Myopathy, Myofibrillar, 8 PYROXD1 myopia 25, autosomal dominant myopia_25_autosomal_dominant Myopia 25, Autosomal Dominant P4HA2 porokeratosis 9, multiple types porokeratosis_9_multiple_types Porokeratosis 9, Multiple Types FDPS mental retardation, autosomal dominant 41 mental_retardation_autosomal_dominant_41 Mental Retardation, Autosomal Dominant 41 TBL1XR1 DOID:0070071 diamond-blackfan anemia 6 diamond_blackfan_anemia_6 Diamond-Blackfan Anemia 6 RPL5 epilepsy, progressive myoclonic, 1b epilepsy_progressive_myoclonic_1b_2 Epilepsy, Progressive Myoclonic, 1b PRICKLE1 retinitis pigmentosa 78 retinitis_pigmentosa_78 Retinitis Pigmentosa 78 ARHGEF18 deafness, autosomal recessive 107 deafness_autosomal_recessive_107 Deafness, Autosomal Recessive 107 WBP2 peroxisome biogenesis disorder 2b peroxisome_biogenesis_disorder_2b Peroxisome Biogenesis Disorder 2b PEX5 galloway-mowat syndrome 5 galloway_mowat_syndrome_5 Galloway-Mowat Syndrome 5 TPRKB DOID:0080247 myopia 24, autosomal dominant myopia_24_autosomal_dominant Myopia 24, Autosomal Dominant SLC39A5 myopathy, congenital, with fiber-type disproportion myopathy_congenital_with_fiber_type_disproportion Myopathy, Congenital, with Fiber-Type Disproportion SELENON polycystic kidney disease 5 polycystic_kidney_disease_5 Polycystic Kidney Disease 5 DZIP1L DOID:0080273 renal-hepatic-pancreatic dysplasia 1 renal_hepatic_pancreatic_dysplasia_1 Renal-Hepatic-Pancreatic Dysplasia 1 NPHP3 mental retardation, autosomal dominant 34 mental_retardation_autosomal_dominant_34 Mental Retardation, Autosomal Dominant 34 COL4A3BP DOID:0070064 testicular germ cell tumor testicular_germ_cell_tumor Testicular Germ Cell Tumor STK11 testicular germ cell tumor testicular_germ_cell_tumor Testicular Germ Cell Tumor FGFR3 psoriasis 2 psoriasis_2 Psoriasis 2 CARD14 robinow syndrome, autosomal dominant 1 robinow_syndrome_autosomal_dominant_1 Robinow Syndrome, Autosomal Dominant 1 WNT5A DOID:0060766 cataract 20, multiple types cataract_20_multiple_types Cataract 20, Multiple Types CRYGS DOID:0110240 oocyte maturation defect 3 oocyte_maturation_defect_3 Oocyte Maturation Defect 3 ZP3 myopia 22, autosomal dominant myopia_22_autosomal_dominant Myopia 22, Autosomal Dominant PRIMPOL thyroid dyshormonogenesis 4 thyroid_dyshormonogenesis_4 Thyroid Dyshormonogenesis 4 IYD creatine phosphokinase, elevated serum creatine_phosphokinase_elevated_serum Creatine Phosphokinase, Elevated Serum CAV3 spinocerebellar ataxia 44 spinocerebellar_ataxia_44 Spinocerebellar Ataxia 44 GRM1 DOID:0080286 ataxia, sensory, 1, autosomal dominant ataxia_sensory_1_autosomal_dominant Ataxia, Sensory, 1, Autosomal Dominant RNF170 DOID:0111170 congenital disorder of glycosylation, type il congenital_disorder_of_glycosylation_type_il Congenital Disorder of Glycosylation, Type Il ALG9 lissencephaly 8 lissencephaly_8 Lissencephaly 8 TMTC3 seckel syndrome 9 seckel_syndrome_9 Seckel Syndrome 9 TRAIP DOID:0070005 heimler syndrome 1 heimler_syndrome_1 Heimler Syndrome 1 PEX1 joubert syndrome 32 joubert_syndrome_32 Joubert Syndrome 32 SUFU DOID:0080278 fraser syndrome 2 fraser_syndrome_2 Fraser Syndrome 2 FREM2 3mc syndrome 3 3mc_syndrome_3 3mc Syndrome 3 COLEC10 DOID:0060577 branchiootic syndrome 1 branchiootic_syndrome_1 Branchiootic Syndrome 1 EYA1 fibrochondrogenesis 1 fibrochondrogenesis_1 Fibrochondrogenesis 1 COL11A1 hypotrichosis 1 hypotrichosis_1 Hypotrichosis 1 APCDD1 DOID:0110698 colorectal cancer colorectal_cancer Colorectal Cancer PDGFRL DOID:9256 colorectal cancer, hereditary nonpolyposis, type 2 colorectal_cancer_hereditary_nonpolyposis_type_2 Colorectal Cancer, Hereditary Nonpolyposis, Type 2 MLH1 glycogen storage disease ic glycogen_storage_disease_ic Glycogen Storage Disease Ic SLC37A4 muscular dystrophy-dystroglycanopathy , type a, 3 muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_3 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 POMGNT1 myoclonic epilepsy of unverricht and lundborg myoclonic_epilepsy_of_unverricht_and_lundborg Myoclonic Epilepsy of Unverricht and Lundborg CSTB telangiectasia, hereditary hemorrhagic, type 1 telangiectasia_hereditary_hemorrhagic_type_1 Telangiectasia, Hereditary Hemorrhagic, Type 1 ENG vitamin d hydroxylation-deficient rickets, type 1a vitamin_d_hydroxylation_deficient_rickets_type_1a Vitamin D Hydroxylation-Deficient Rickets, Type 1a CYP27B1 ehlers-danlos syndrome, kyphoscoliotic type, 1 ehlers_danlos_syndrome_kyphoscoliotic_type_1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 PLOD1 bile acid synthesis defect, congenital, 6 bile_acid_synthesis_defect_congenital_6 Bile Acid Synthesis Defect, Congenital, 6 ACOX2 DOID:0111067 amelogenesis imperfecta, type iiia amelogenesis_imperfecta_type_iiia Amelogenesis Imperfecta, Type Iiia FAM83H DOID:0110055 cutis laxa, autosomal recessive, type iid cutis_laxa_autosomal_recessive_type_iid Cutis Laxa, Autosomal Recessive, Type Iid ATP6V1A DOID:0070129 cutis laxa, autosomal recessive, type iic cutis_laxa_autosomal_recessive_type_iic Cutis Laxa, Autosomal Recessive, Type Iic ATP6V1E1 DOID:0070140 parkinson disease 22, autosomal dominant parkinson_disease_22_autosomal_dominant Parkinson Disease 22, Autosomal Dominant CHCHD2 neuronopathy, distal hereditary motor, type ix neuronopathy_distal_hereditary_motor_type_ix Neuronopathy, Distal Hereditary Motor, Type Ix WARS ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 DNAI1 DOID:0110594 cerebrooculofacioskeletal syndrome 1 cerebrooculofacioskeletal_syndrome_1 Cerebrooculofacioskeletal Syndrome 1 ERCC6 tn polyagglutination syndrome tn_polyagglutination_syndrome Tn Polyagglutination Syndrome C1GALT1C1 joubert syndrome 33 joubert_syndrome_33 Joubert Syndrome 33 PIBF1 DOID:0080279 orofaciodigital syndrome xvi orofaciodigital_syndrome_xvi Orofaciodigital Syndrome Xvi TMEM107 DOID:0080254 trichorhinophalangeal syndrome, type iii trichorhinophalangeal_syndrome_type_iii Trichorhinophalangeal Syndrome, Type Iii TRPS1 bartter syndrome, type 4a, neonatal, with sensorineural deafness bartter_syndrome_type_4a_neonatal_with_sensorineural_deafness Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness BSND DOID:0110145 amyloidosis, familial visceral amyloidosis_familial_visceral Amyloidosis, Familial Visceral LYZ DOID:0050636 mehmo syndrome mehmo_syndrome Mehmo Syndrome EIF2S3 DOID:0060801 cartilage-hair hypoplasia cartilage_hair_hypoplasia Cartilage-Hair Hypoplasia RMRP DOID:14773 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome KCNQ1OT1 DOID:5572 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid JAK2 DOID:9119 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial CASP10 DOID:0060060 lung cancer lung_cancer Lung Cancer EGFR DOID:3908 neurodegeneration, childhood-onset, with brain atrophy neurodegeneration_childhood_onset_with_brain_atrophy Neurodegeneration, Childhood-Onset, with Brain Atrophy UBTF schimmelpenning-feuerstein-mims syndrome schimmelpenning_feuerstein_mims_syndrome Schimmelpenning-Feuerstein-Mims Syndrome HRAS beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome H19 DOID:5572 amyloidosis, familial visceral amyloidosis_familial_visceral Amyloidosis, Familial Visceral FGA DOID:0050636 arterial calcification, generalized, of infancy, 1 arterial_calcification_generalized_of_infancy_1 Arterial Calcification, Generalized, of Infancy, 1 ENPP1 arthrogryposis, distal, type 1b arthrogryposis_distal_type_1b Arthrogryposis, Distal, Type 1b MYBPC1 cholestasis, intrahepatic, of pregnancy, 1 cholestasis_intrahepatic_of_pregnancy_1 Cholestasis, Intrahepatic, of Pregnancy, 1 ATP8B1 ehlers-danlos syndrome, spondylodysplastic type, 1 ehlers_danlos_syndrome_spondylodysplastic_type_1 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 B4GALT7 ehlers-danlos syndrome, spondylodysplastic type, 2 ehlers_danlos_syndrome_spondylodysplastic_type_2 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 B3GALT6 glycosylphosphatidylinositol biosynthesis defect 11 glycosylphosphatidylinositol_biosynthesis_defect_11 Glycosylphosphatidylinositol Biosynthesis Defect 11 PIGW mental retardation, autosomal dominant 48 mental_retardation_autosomal_dominant_48 Mental Retardation, Autosomal Dominant 48 RAC1 DOID:0080235 mental retardation, autosomal dominant 49 mental_retardation_autosomal_dominant_49 Mental Retardation, Autosomal Dominant 49 TRIP12 DOID:0080234 metachromatic leukodystrophy due to saposin b deficiency metachromatic_leukodystrophy_due_to_saposin_b_deficiency Metachromatic Leukodystrophy Due to Saposin B Deficiency PSAP nephrotic syndrome, type 4 nephrotic_syndrome_type_4 Nephrotic Syndrome, Type 4 WT1 neuronopathy, distal hereditary motor, type va neuronopathy_distal_hereditary_motor_type_va Neuronopathy, Distal Hereditary Motor, Type Va GARS neuronopathy, distal hereditary motor, type va neuronopathy_distal_hereditary_motor_type_va Neuronopathy, Distal Hereditary Motor, Type Va BSCL2 neuropathy, hereditary sensory and autonomic, type ia neuropathy_hereditary_sensory_and_autonomic_type_ia Neuropathy, Hereditary Sensory and Autonomic, Type Ia SPTLC1 DOID:0070152 nystagmus 1, congenital, x-linked nystagmus_1_congenital_x_linked_2 Nystagmus 1, Congenital, X-Linked FRMD7 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy OPA1 trichoepithelioma, multiple familial, 1 trichoepithelioma_multiple_familial_1 Trichoepithelioma, Multiple Familial, 1 CYLD retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CRX DOID:10584 pseudohyperkalemia, familial, 2, due to red cell leak pseudohyperkalemia_familial_2_due_to_red_cell_leak Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak ABCB6 ectodermal dysplasia-syndactyly syndrome 1 ectodermal_dysplasia_syndactyly_syndrome_1 Ectodermal Dysplasia-Syndactyly Syndrome 1 NECTIN4 charcot-marie-tooth disease, axonal, type 2b charcot_marie_tooth_disease_axonal_type_2b Charcot-Marie-Tooth Disease, Axonal, Type 2b RAB7A DOID:0110159 neuropathy, ataxia, and retinitis pigmentosa neuropathy_ataxia_and_retinitis_pigmentosa Neuropathy, Ataxia, and Retinitis Pigmentosa MT-ATP6 lung cancer lung_cancer Lung Cancer IRF1 DOID:3908 pseudohypoparathyroidism, type ib pseudohypoparathyroidism_type_ib_2 Pseudohypoparathyroidism, Type Ib GNAS-AS1 DOID:0080222 breast cancer breast_cancer Breast Cancer CDH1 DOID:3459 prostate cancer prostate_cancer Prostate Cancer AR DOID:10286 breast cancer breast_cancer Breast Cancer ATM DOID:3459 neutrophilia, hereditary neutrophilia_hereditary Neutrophilia, Hereditary CSF3R DOID:0090120 tumoral calcinosis, hyperphosphatemic, familial, 1 tumoral_calcinosis_hyperphosphatemic_familial_1 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 FGF23 DOID:0111063 butyrylcholinesterase deficiency butyrylcholinesterase_deficiency Butyrylcholinesterase Deficiency BCHE juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia CBL DOID:0050458 spinocerebellar ataxia 8 spinocerebellar_ataxia_8 Spinocerebellar Ataxia 8 ATXN8OS DOID:0050959 budd-chiari syndrome budd_chiari_syndrome Budd-Chiari Syndrome JAK2 DOID:11512 lung cancer lung_cancer Lung Cancer KRAS DOID:3908 pancreatitis, hereditary pancreatitis_hereditary Pancreatitis, Hereditary CFTR colorectal cancer colorectal_cancer Colorectal Cancer TP53 DOID:9256 osteogenesis imperfecta, type i osteogenesis_imperfecta_type_i_2 Osteogenesis Imperfecta, Type I COL1A2 DOID:0110334 breast cancer breast_cancer Breast Cancer BARD1 DOID:3459 brunner syndrome brunner_syndrome Brunner Syndrome MAOA DOID:0060693 colorectal cancer colorectal_cancer Colorectal Cancer APC DOID:9256 breast cancer breast_cancer Breast Cancer TP53 DOID:3459 pancreatic cancer pancreatic_cancer Pancreatic Cancer SMAD4 DOID:4905 bladder cancer bladder_cancer Bladder Cancer HRAS DOID:4007 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia NRAS DOID:0050458 aplastic anemia aplastic_anemia Aplastic Anemia SBDS DOID:12449 breast-ovarian cancer, familial 2 breast_ovarian_cancer_familial_2_2 Breast-Ovarian Cancer, Familial 2 BRCA2 prostate cancer prostate_cancer Prostate Cancer BRCA2 DOID:10286 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset GBA DOID:14330 epidermolysis bullosa simplex with nail dystrophy epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis Bullosa Simplex with Nail Dystrophy PLEC leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ATP6 DOID:3652 breast-ovarian cancer, familial 4 breast_ovarian_cancer_familial_4 Breast-Ovarian Cancer, Familial 4 RAD51D leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND5 DOID:3652 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND3 DOID:3652 pancreatic cancer 3 pancreatic_cancer_3 Pancreatic Cancer 3 PALB2 encephalopathy, acute, infection-induced 4 encephalopathy_acute_infection_induced_4_2 Encephalopathy, Acute, Infection-Induced 4 CPT2 epilepsy, idiopathic generalized 9 epilepsy_idiopathic_generalized_9 Epilepsy, Idiopathic Generalized 9 CACNB4 dermatitis, atopic, 2 dermatitis_atopic_2_2 Dermatitis, Atopic, 2 FLG DOID:0110098 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia KRAS DOID:0050458 autism 17 autism_17 Autism 17 SHANK2 autism 18 autism_18 Autism 18 CHD8 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma TP53 DOID:916 deafness, autosomal recessive 1a deafness_autosomal_recessive_1a Deafness, Autosomal Recessive 1a GJB3 DOID:0110475 pancreatic cancer pancreatic_cancer Pancreatic Cancer TP53 DOID:4905 lung cancer lung_cancer Lung Cancer ERBB2 DOID:3908 bardet-biedl syndrome 15 bardet_biedl_syndrome_15 Bardet-Biedl Syndrome 15 WDPCP DOID:0110137 bardet-biedl syndrome 18 bardet_biedl_syndrome_18 Bardet-Biedl Syndrome 18 BBIP1 DOID:0110140 colorectal cancer colorectal_cancer Colorectal Cancer AXIN2 DOID:9256 trichotillomania trichotillomania Trichotillomania SLITRK1 DOID:0050587 ichthyosis vulgaris ichthyosis_vulgaris Ichthyosis Vulgaris FLG DOID:1702 osteoporosis osteoporosis Osteoporosis COL1A2 DOID:11476 deafness, autosomal dominant 66 deafness_autosomal_dominant_66 Deafness, Autosomal Dominant 66 CD164 DOID:0110587 colchicine resistance colchicine_resistance Colchicine Resistance ABCB1 ehlers-danlos syndrome, classic type, 1 ehlers_danlos_syndrome_classic_type_1 Ehlers-Danlos Syndrome, Classic Type, 1 COL1A1 skin/hair/eye pigmentation, variation in, 3 skin_hair_eye_pigmentation_variation_in_3 Skin/hair/eye Pigmentation, Variation in, 3 TYR deafness, autosomal recessive 91 deafness_autosomal_recessive_91 Deafness, Autosomal Recessive 91 SERPINB6 DOID:0110536 bronchiectasis with or without elevated sweat chloride 1 bronchiectasis_with_or_without_elevated_sweat_chloride_1 Bronchiectasis with or Without Elevated Sweat Chloride 1 CFTR spinocerebellar ataxia 2 spinocerebellar_ataxia_2 Spinocerebellar Ataxia 2 ATXN2 DOID:0060204 angelman syndrome angelman_syndrome Angelman Syndrome UBE3A DOID:1932 deafness, autosomal recessive 44 deafness_autosomal_recessive_44 Deafness, Autosomal Recessive 44 ADCY1 DOID:0110501 mannose-binding lectin deficiency mannose_binding_lectin_deficiency Mannose-Binding Lectin Deficiency MBL2 prostate cancer/brain cancer susceptibility prostate_cancer_brain_cancer_susceptibility Prostate Cancer/brain Cancer Susceptibility EPHB2 bardet-biedl syndrome 14 bardet_biedl_syndrome_14 Bardet-Biedl Syndrome 14 CEP290 DOID:0110136 autism x-linked 3 autism_x_linked_3 Autism X-Linked 3 MECP2 autism x-linked 2 autism_x_linked_2 Autism X-Linked 2 NLGN4X retinitis pigmentosa 23 retinitis_pigmentosa_23 Retinitis Pigmentosa 23 OFD1 DOID:0110412 medulloblastoma medulloblastoma Medulloblastoma SUFU DOID:0050902 endometrial cancer endometrial_cancer Endometrial Cancer MSH6 DOID:2871 pancreatic cancer pancreatic_cancer Pancreatic Cancer KRAS DOID:4905 caudal duplication anomaly caudal_duplication_anomaly Caudal Duplication Anomaly AXIN1 mitochondrial myopathy with lactic acidosis mitochondrial_myopathy_with_lactic_acidosis Mitochondrial Myopathy with Lactic Acidosis PNPLA8 peroxisome biogenesis disorder 14b peroxisome_biogenesis_disorder_14b Peroxisome Biogenesis Disorder 14b PEX11B machado-joseph disease machado_joseph_disease Machado-Joseph Disease ATXN3 DOID:1440 meckel syndrome, type 8 meckel_syndrome_type_8 Meckel Syndrome, Type 8 TCTN2 DOID:0070122 deafness, autosomal recessive 101 deafness_autosomal_recessive_101 Deafness, Autosomal Recessive 101 GRXCR2 DOID:0110462 cranioectodermal dysplasia 3 cranioectodermal_dysplasia_3 Cranioectodermal Dysplasia 3 IFT43 seckel syndrome 8 seckel_syndrome_8 Seckel Syndrome 8 DNA2 DOID:0070009 glycine encephalopathy glycine_encephalopathy Glycine Encephalopathy GCSH DOID:9268 joubert syndrome 22 joubert_syndrome_22 Joubert Syndrome 22 PDE6D DOID:0110991 microphthalmia, syndromic 13 microphthalmia_syndromic_13 Microphthalmia, Syndromic 13 HMGB3 bladder cancer bladder_cancer Bladder Cancer RB1 DOID:4007 deafness, autosomal dominant 44 deafness_autosomal_dominant_44 Deafness, Autosomal Dominant 44 CCDC50 DOID:0110569 retinal dystrophy and obesity retinal_dystrophy_and_obesity Retinal Dystrophy and Obesity TUB retinitis pigmentosa 51 retinitis_pigmentosa_51 Retinitis Pigmentosa 51 TTC8 DOID:0110398 deafness, autosomal recessive 98 deafness_autosomal_recessive_98 Deafness, Autosomal Recessive 98 TSPEAR DOID:0110540 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 PAX5 alpha-thalassemia alpha_thalassemia_2 Alpha-Thalassemia HBA2 DOID:1099 lung cancer lung_cancer Lung Cancer PIK3CA DOID:3908 deafness, autosomal recessive 61 deafness_autosomal_recessive_61 Deafness, Autosomal Recessive 61 SLC26A5 DOID:0110513 rhabdoid tumor predisposition syndrome 2 rhabdoid_tumor_predisposition_syndrome_2 Rhabdoid Tumor Predisposition Syndrome 2 SMARCA4 adrenocortical carcinoma, hereditary adrenocortical_carcinoma_hereditary Adrenocortical Carcinoma, Hereditary TP53 DOID:3948 ullrich congenital muscular dystrophy 2 ullrich_congenital_muscular_dystrophy_2 Ullrich Congenital Muscular Dystrophy 2 COL12A1 epilepsy, familial adult myoclonic, 5 epilepsy_familial_adult_myoclonic_5 Epilepsy, Familial Adult Myoclonic, 5 CNTN2 osteogenic sarcoma osteogenic_sarcoma Osteogenic Sarcoma CHEK2 DOID:3347 inflammatory skin and bowel disease, neonatal, 1 inflammatory_skin_and_bowel_disease_neonatal_1 Inflammatory Skin and Bowel Disease, Neonatal, 1 ADAM17 maple syrup urine disease, mild variant maple_syrup_urine_disease_mild_variant Maple Syrup Urine Disease, Mild Variant PPM1K vitamin b12 plasma level quantitative trait locus 1 vitamin_b12_plasma_level_quantitative_trait_locus_1 Vitamin B12 Plasma Level Quantitative Trait Locus 1 FUT2 hermansky-pudlak syndrome 6 hermansky_pudlak_syndrome_6 Hermansky-Pudlak Syndrome 6 HPS6 DOID:0060544 myasthenic syndrome, congenital, 22 myasthenic_syndrome_congenital_22 Myasthenic Syndrome, Congenital, 22 PREPL acne inversa, familial, 3 acne_inversa_familial_3 Acne Inversa, Familial, 3 PSEN1 weill-marchesani syndrome 2 weill_marchesani_syndrome_2 Weill-Marchesani Syndrome 2 FBN1 wiskott-aldrich syndrome 2 wiskott_aldrich_syndrome_2 Wiskott-Aldrich Syndrome 2 WIPF1 fibromatosis, gingival, 1 fibromatosis_gingival_1 Fibromatosis, Gingival, 1 SOS1 agammaglobulinemia 7, autosomal recessive agammaglobulinemia_7_autosomal_recessive Agammaglobulinemia 7, Autosomal Recessive PIK3R1 febrile seizures, familial, 4 febrile_seizures_familial_4 Febrile Seizures, Familial, 4 ADGRV1 hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic_hypogonadism_12_with_or_without_anosmia Hypogonadotropic Hypogonadism 12 with or Without Anosmia GNRH1 DOID:0090072 fetal hemoglobin quantitative trait locus 6 fetal_hemoglobin_quantitative_trait_locus_6 Fetal Hemoglobin Quantitative Trait Locus 6 KLF1 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome partial_lipodystrophy_congenital_cataracts_and_neurodegeneration_syndrome Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome CAV1 fazio-londe disease fazio_londe_disease Fazio-Londe Disease SLC52A3 spondylocostal dysostosis 6, autosomal recessive spondylocostal_dysostosis_6_autosomal_recessive Spondylocostal Dysostosis 6, Autosomal Recessive RIPPLY2 agammaglobulinemia 4, autosomal recessive agammaglobulinemia_4_autosomal_recessive Agammaglobulinemia 4, Autosomal Recessive BLNK seckel syndrome 4 seckel_syndrome_4 Seckel Syndrome 4 CENPJ DOID:0070010 paget disease of bone 2, early-onset paget_disease_of_bone_2_early_onset Paget Disease of Bone 2, Early-Onset TNFRSF11A complement factor b deficiency complement_factor_b_deficiency Complement Factor B Deficiency CFB diamond-blackfan anemia 17 diamond_blackfan_anemia_17 Diamond-Blackfan Anemia 17 RPS27 diamond-blackfan anemia 16 diamond_blackfan_anemia_16 Diamond-Blackfan Anemia 16 RPL27 diamond-blackfan anemia 11 diamond_blackfan_anemia_11 Diamond-Blackfan Anemia 11 RPL26 cognitive impairment with or without cerebellar ataxia cognitive_impairment_with_or_without_cerebellar_ataxia Cognitive Impairment with or Without Cerebellar Ataxia SCN8A pancreatic cancer 2 pancreatic_cancer_2 Pancreatic Cancer 2 BRCA2 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency MT-CO1 DOID:3762 hermansky-pudlak syndrome 10 hermansky_pudlak_syndrome_10 Hermansky-Pudlak Syndrome 10 AP3D1 renal hypodysplasia/aplasia 2 renal_hypodysplasia_aplasia_2 Renal Hypodysplasia/aplasia 2 FGF20 inflammatory bowel disease 19 inflammatory_bowel_disease_19 Inflammatory Bowel Disease 19 IRGM DOID:0110890 lissencephaly 7 with cerebellar hypoplasia lissencephaly_7_with_cerebellar_hypoplasia Lissencephaly 7 with Cerebellar Hypoplasia CDK5 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency MT-CO2 DOID:3762 n-acetylaspartate deficiency n_acetylaspartate_deficiency N-Acetylaspartate Deficiency NAT8L pancreatic cancer 4 pancreatic_cancer_4 Pancreatic Cancer 4 BRCA1 deafness, autosomal recessive 104 deafness_autosomal_recessive_104 Deafness, Autosomal Recessive 104 RIPOR2 DOID:0110465 deafness, autosomal recessive 102 deafness_autosomal_recessive_102 Deafness, Autosomal Recessive 102 EPS8 DOID:0110463 deafness, autosomal recessive 103 deafness_autosomal_recessive_103 Deafness, Autosomal Recessive 103 CLIC5 DOID:0110464 orofacial cleft 15 orofacial_cleft_15 Orofacial Cleft 15 DLX4 retinitis pigmentosa 67 retinitis_pigmentosa_67 Retinitis Pigmentosa 67 NEK2 DOID:0110359 mirror movements 3 mirror_movements_3 Mirror Movements 3 DNAL4 immunodeficiency 37 immunodeficiency_37 Immunodeficiency 37 BCL10 schwannomatosis 1 schwannomatosis_1_2 Schwannomatosis 1 SMARCB1 seckel syndrome 6 seckel_syndrome_6 Seckel Syndrome 6 CEP63 DOID:0070006 hydrolethalus syndrome 2 hydrolethalus_syndrome_2 Hydrolethalus Syndrome 2 KIF7 cataract 45 cataract_45 Cataract 45 SIPA1L3 DOID:0110262 guillain-barre syndrome, familial guillain_barre_syndrome_familial Guillain-Barre Syndrome, Familial PMP22 prostate cancer prostate_cancer Prostate Cancer ZFHX3 DOID:10286 lymphoma, hodgkin, classic lymphoma_hodgkin_classic Lymphoma, Hodgkin, Classic KLHDC8B DOID:8567 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes MT-ND4 DOID:3687 pallister-hall syndrome pallister_hall_syndrome Pallister-Hall Syndrome GLI3 DOID:9248 basal laminar drusen basal_laminar_drusen Basal Laminar Drusen CFH DOID:0060746 deafness, autosomal recessive 77 deafness_autosomal_recessive_77 Deafness, Autosomal Recessive 77 LOXHD1 DOID:0110525 stroke, ischemic stroke_ischemic Stroke, Ischemic F2 DOID:3526 hermansky-pudlak syndrome 1 hermansky_pudlak_syndrome_1 Hermansky-Pudlak Syndrome 1 HPS1 DOID:0060539 deafness, autosomal recessive 22 deafness_autosomal_recessive_22 Deafness, Autosomal Recessive 22 OTOA DOID:0110480 charge syndrome charge_syndrome Charge Syndrome SEMA3E DOID:0050834 fraser syndrome 1 fraser_syndrome_1 Fraser Syndrome 1 FRAS1 DOID:0090001 ehlers-danlos syndrome, classic type, 1 ehlers_danlos_syndrome_classic_type_1 Ehlers-Danlos Syndrome, Classic Type, 1 COL5A2 retinitis pigmentosa 19 retinitis_pigmentosa_19 Retinitis Pigmentosa 19 ABCA4 DOID:0110354 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_2 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 TERC skin/hair/eye pigmentation, variation in, 1 skin_hair_eye_pigmentation_variation_in_1 Skin/hair/eye Pigmentation, Variation in, 1 OCA2 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency myasthenic_syndrome_congenital_2c_associated_with_acetylcholine_receptor_deficiency Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency CHRNB1 DOID:0110680 endometrial cancer endometrial_cancer Endometrial Cancer MSH3 DOID:2871 glioma susceptibility 3 glioma_susceptibility_3 Glioma Susceptibility 3 BRCA2 diamond-blackfan anemia 12 diamond_blackfan_anemia_12 Diamond-Blackfan Anemia 12 RPL15 lipodystrophy, congenital generalized, type 3 lipodystrophy_congenital_generalized_type_3 Lipodystrophy, Congenital Generalized, Type 3 CAV1 DOID:0111137 coronary artery disease, autosomal dominant, 1 coronary_artery_disease_autosomal_dominant_1 Coronary Artery Disease, Autosomal Dominant, 1 MEF2A fanconi renotubular syndrome 2 fanconi_renotubular_syndrome_2 Fanconi Renotubular Syndrome 2 SLC34A1 mitochondrial complex iii deficiency, nuclear type 7 mitochondrial_complex_iii_deficiency_nuclear_type_7 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 UQCC2 DOID:0080116 premature ovarian failure 2a premature_ovarian_failure_2a Premature Ovarian Failure 2a DIAPH2 agammaglobulinemia 5, autosomal dominant agammaglobulinemia_5_autosomal_dominant Agammaglobulinemia 5, Autosomal Dominant LRRC8A pregnancy loss, recurrent 2 pregnancy_loss_recurrent_2 Pregnancy Loss, Recurrent 2 F2 diabetes mellitus, noninsulin-dependent, 5 diabetes_mellitus_noninsulin_dependent_5 Diabetes Mellitus, Noninsulin-Dependent, 5 TBC1D4 orofacial cleft 10 orofacial_cleft_10 Orofacial Cleft 10 SUMO1 coloboma, ocular, autosomal recessive coloboma_ocular_autosomal_recessive Coloboma, Ocular, Autosomal Recessive SALL2 ventricular fibrillation, paroxysmal familial, 2 ventricular_fibrillation_paroxysmal_familial_2 Ventricular Fibrillation, Paroxysmal Familial, 2 DPP6 hermansky-pudlak syndrome 4 hermansky_pudlak_syndrome_4 Hermansky-Pudlak Syndrome 4 HPS4 DOID:0060542 schizophrenia 18 schizophrenia_18 Schizophrenia 18 SLC1A1 DOID:0070093 trichothiodystrophy 5, nonphotosensitive trichothiodystrophy_5_nonphotosensitive Trichothiodystrophy 5, Nonphotosensitive RNF113A immunodeficiency 25 immunodeficiency_25 Immunodeficiency 25 CD247 meckel syndrome, type 9 meckel_syndrome_type_9 Meckel Syndrome, Type 9 B9D1 fetal akinesia deformation sequence fetal_akinesia_deformation_sequence Fetal Akinesia Deformation Sequence DOK7 saethre-chotzen syndrome saethre_chotzen_syndrome Saethre-Chotzen Syndrome FGFR2 DOID:14768 retinitis pigmentosa 28 retinitis_pigmentosa_28 Retinitis Pigmentosa 28 FAM161A DOID:0110365 wolfram syndrome 2 wolfram_syndrome_2 Wolfram Syndrome 2 CISD2 DOID:0110630 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes MT-ND6 DOID:3687 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes MT-ND5 DOID:3687 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent GCGR DOID:9352 fanconi anemia, complementation group n fanconi_anemia_complementation_group_n Fanconi Anemia, Complementation Group N PALB2 DOID:0111094 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent SLC2A2 DOID:9352 brugada syndrome 5 brugada_syndrome_5 Brugada Syndrome 5 SCN1B DOID:0110222 cerebral cavernous malformations 3 cerebral_cavernous_malformations_3 Cerebral Cavernous Malformations 3 PDCD10 DOID:0060671 microcephalic osteodysplastic primordial dwarfism, type ii microcephalic_osteodysplastic_primordial_dwarfism_type_ii Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii PCNT DOID:0060609 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent GPD2 DOID:9352 fanconi anemia, complementation group e fanconi_anemia_complementation_group_e Fanconi Anemia, Complementation Group E FANCE DOID:0111084 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent KCNJ11 DOID:9352 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFB9 DOID:0060536 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent WFS1 DOID:9352 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset GLUD2 DOID:14330 mass syndrome mass_syndrome Mass Syndrome FBN1 colorectal cancer colorectal_cancer Colorectal Cancer NRAS DOID:9256 medulloblastoma medulloblastoma Medulloblastoma BRCA2 DOID:0050902 leber congenital amaurosis 10 leber_congenital_amaurosis_10 Leber Congenital Amaurosis 10 CEP290 DOID:0110291 aplastic anemia aplastic_anemia Aplastic Anemia PRF1 DOID:12449 osteofibrous dysplasia osteofibrous_dysplasia Osteofibrous Dysplasia MET hawkinsinuria hawkinsinuria Hawkinsinuria HPD spastic paraplegia 50, autosomal recessive spastic_paraplegia_50_autosomal_recessive Spastic Paraplegia 50, Autosomal Recessive AP4M1 DOID:0110802 fanconi anemia, complementation group f fanconi_anemia_complementation_group_f Fanconi Anemia, Complementation Group F FANCF DOID:0111088 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 KIR3DL1 fanconi anemia, complementation group b fanconi_anemia_complementation_group_b Fanconi Anemia, Complementation Group B FANCB DOID:0111098 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS4 DOID:0060536 leber congenital amaurosis 5 leber_congenital_amaurosis_5 Leber Congenital Amaurosis 5 LCA5 DOID:0110215 gastric cancer gastric_cancer Gastric Cancer PIK3CA DOID:5517 endometrial cancer endometrial_cancer Endometrial Cancer MLH3 DOID:2871 nemaline myopathy 2 nemaline_myopathy_2 Nemaline Myopathy 2 NEB DOID:0110928 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFA11 DOID:0060536 mesothelioma, malignant mesothelioma_malignant Mesothelioma, Malignant BCL10 DOID:1790 maturity-onset diabetes of the young, type 4 maturity_onset_diabetes_of_the_young_type_4 Maturity-Onset Diabetes of the Young, Type 4 PDX1 DOID:0111103 mental retardation, autosomal dominant 7 mental_retardation_autosomal_dominant_7 Mental Retardation, Autosomal Dominant 7 DYRK1A DOID:0070037 vasculopathy, retinal, with cerebral leukodystrophy vasculopathy_retinal_with_cerebral_leukodystrophy Vasculopathy, Retinal, with Cerebral Leukodystrophy TREX1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes MT-ND1 DOID:3687 paragangliomas 3 paragangliomas_3 Paragangliomas 3 SDHC renal-hepatic-pancreatic dysplasia 2 renal_hepatic_pancreatic_dysplasia_2 Renal-Hepatic-Pancreatic Dysplasia 2 NEK8 koolen-de vries syndrome koolen_de_vries_syndrome Koolen-De Vries Syndrome KANSL1 DOID:0070076 peroxisome biogenesis disorder 5a peroxisome_biogenesis_disorder_5a Peroxisome Biogenesis Disorder 5a PEX2 joubert syndrome 21 joubert_syndrome_21 Joubert Syndrome 21 CSPP1 DOID:0110990 ciliary dyskinesia, primary, 15 ciliary_dyskinesia_primary_15 Ciliary Dyskinesia, Primary, 15 CCDC40 DOID:0110623 mental retardation, autosomal dominant 22 mental_retardation_autosomal_dominant_22 Mental Retardation, Autosomal Dominant 22 ZBTB18 DOID:0070052 periodic fever, menstrual cycle-dependent periodic_fever_menstrual_cycle_dependent_2 Periodic Fever, Menstrual Cycle-Dependent HTR1A meckel syndrome, type 4 meckel_syndrome_type_4_2 Meckel Syndrome, Type 4 CEP290 DOID:0070118 mental retardation, autosomal recessive 58 mental_retardation_autosomal_recessive_58 Mental Retardation, Autosomal Recessive 58 ELP2 anterior segment dysgenesis 6 anterior_segment_dysgenesis_6 Anterior Segment Dysgenesis 6 CYP1B1 ciliary dyskinesia, primary, 21 ciliary_dyskinesia_primary_21 Ciliary Dyskinesia, Primary, 21 DRC1 DOID:0110596 spinocerebellar ataxia 17 spinocerebellar_ataxia_17 Spinocerebellar Ataxia 17 TBP DOID:0050967 barrett esophagus barrett_esophagus Barrett Esophagus ASCC1 DOID:9206 cataract 3, multiple types cataract_3_multiple_types Cataract 3, Multiple Types CRYBB2 DOID:0110269 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFS7 DOID:3652 barrett esophagus barrett_esophagus Barrett Esophagus CTHRC1 DOID:9206 rothmund-thomson syndrome rothmund_thomson_syndrome Rothmund-Thomson Syndrome RECQL4 DOID:2732 feingold syndrome 2 feingold_syndrome_2 Feingold Syndrome 2 MIR17HG hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma APC DOID:916 hemophagocytic lymphohistiocytosis, familial, 3 hemophagocytic_lymphohistiocytosis_familial_3 Hemophagocytic Lymphohistiocytosis, Familial, 3 UNC13D DOID:0110923 colorectal cancer colorectal_cancer Colorectal Cancer DCC DOID:9256 iminoglycinuria iminoglycinuria Iminoglycinuria SLC6A19 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma IGF2R DOID:916 meningioma, familial meningioma_familial Meningioma, Familial PDGFB DOID:4586 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFA12 DOID:3652 spastic paraplegia, intellectual disability, nystagmus, and obesity spastic_paraplegia_intellectual_disability_nystagmus_and_obesity Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity KIDINS220 bile acid synthesis defect, congenital, 5 bile_acid_synthesis_defect_congenital_5 Bile Acid Synthesis Defect, Congenital, 5 ABCD3 DOID:0111066 breasts and/or nipples, aplasia or hypoplasia of, 2 breasts_and_or_nipples_aplasia_or_hypoplasia_of_2 Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 PTPRF coumarin resistance coumarin_resistance Coumarin Resistance F9 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic IL21R neuronopathy, distal hereditary motor, type vb neuronopathy_distal_hereditary_motor_type_vb Neuronopathy, Distal Hereditary Motor, Type Vb REEP1 osteogenesis imperfecta, type xii osteogenesis_imperfecta_type_xii_2 Osteogenesis Imperfecta, Type Xii SP7 DOID:0110348 preterm premature rupture of the membranes preterm_premature_rupture_of_the_membranes Preterm Premature Rupture of the Membranes SERPINH1 DOID:0111144 stickler syndrome, type v stickler_syndrome_type_v Stickler Syndrome, Type V COL9A2 thyroid carcinoma, hurthle cell thyroid_carcinoma_hurthle_cell Thyroid Carcinoma, Hurthle Cell NDUFA13 DOID:8161 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 GPC3 DOID:5176 fanconi anemia, complementation group l fanconi_anemia_complementation_group_l Fanconi Anemia, Complementation Group L FANCL DOID:0111082 woodhouse-sakati syndrome woodhouse_sakati_syndrome_2 Woodhouse-Sakati Syndrome DCAF17 ewing sarcoma ewing_sarcoma Ewing Sarcoma EWSR1 DOID:5614 colorectal cancer colorectal_cancer Colorectal Cancer CTNNB1 DOID:9256 hajdu-cheney syndrome hajdu_cheney_syndrome Hajdu-Cheney Syndrome NOTCH2 DOID:2736 burn-mckeown syndrome burn_mckeown_syndrome Burn-Mckeown Syndrome TXNL4A fundus albipunctatus fundus_albipunctatus Fundus Albipunctatus RHO DOID:11105 stargardt disease 3 stargardt_disease_3 Stargardt Disease 3 ELOVL4 central hypoventilation syndrome, congenital central_hypoventilation_syndrome_congenital Central Hypoventilation Syndrome, Congenital EDN3 DOID:0060731 deafness, autosomal recessive 79 deafness_autosomal_recessive_79 Deafness, Autosomal Recessive 79 TPRN DOID:0110526 complement component 6 deficiency complement_component_6_deficiency Complement Component 6 Deficiency C6 DOID:0060299 osteogenesis imperfecta, type vi osteogenesis_imperfecta_type_vi Osteogenesis Imperfecta, Type Vi SERPINF1 DOID:0110350 warburg micro syndrome 1 warburg_micro_syndrome_1 Warburg Micro Syndrome 1 RAB3GAP1 DOID:0110716 alpha-thalassemia alpha_thalassemia_2 Alpha-Thalassemia HBA1 DOID:1099 premature ovarian failure 1 premature_ovarian_failure_1 Premature Ovarian Failure 1 FMR1 DOID:5426 warburg micro syndrome 4 warburg_micro_syndrome_4 Warburg Micro Syndrome 4 TBC1D20 DOID:0110719 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 BRCA2 DOID:5176 deafness, autosomal recessive 49 deafness_autosomal_recessive_49 Deafness, Autosomal Recessive 49 MARVELD2 DOID:0110506 filippi syndrome filippi_syndrome Filippi Syndrome CKAP2L hypotrichosis 6 hypotrichosis_6 Hypotrichosis 6 DSG4 DOID:0110703 deafness, autosomal recessive 30 deafness_autosomal_recessive_30 Deafness, Autosomal Recessive 30 MYO3A DOID:0110489 bardet-biedl syndrome 16 bardet_biedl_syndrome_16 Bardet-Biedl Syndrome 16 SDCCAG8 DOID:0110138 c1q deficiency c1q_deficiency C1q Deficiency C1QA auditory neuropathy, autosomal dominant, 1 auditory_neuropathy_autosomal_dominant_1 Auditory Neuropathy, Autosomal Dominant, 1 DIAPH3 DOID:0060690 deafness, autosomal dominant 28 deafness_autosomal_dominant_28 Deafness, Autosomal Dominant 28 GRHL2 DOID:0110557 gilbert syndrome gilbert_syndrome Gilbert Syndrome UGT1A1 DOID:2739 leber congenital amaurosis 3 leber_congenital_amaurosis_3 Leber Congenital Amaurosis 3 SPATA7 DOID:0110331 bardet-biedl syndrome 8 bardet_biedl_syndrome_8 Bardet-Biedl Syndrome 8 TTC8 DOID:0110130 thrombocytopenia 2 thrombocytopenia_2 Thrombocytopenia 2 ANKRD26 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFAF1 DOID:0060536 elliptocytosis 1 elliptocytosis_1_2 Elliptocytosis 1 EPB41 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFAF2 DOID:0060536 lubs x-linked mental retardation syndrome lubs_x_linked_mental_retardation_syndrome Lubs X-Linked Mental Retardation Syndrome MECP2 DOID:0060799 deafness, autosomal dominant 23 deafness_autosomal_dominant_23 Deafness, Autosomal Dominant 23 SIX1 DOID:0110553 ciliary dyskinesia, primary, 25 ciliary_dyskinesia_primary_25 Ciliary Dyskinesia, Primary, 25 DNAAF4 DOID:0110615 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent GCK DOID:9352 kahrizi syndrome kahrizi_syndrome Kahrizi Syndrome SRD5A3 DOID:0050807 mental retardation, autosomal dominant 20 mental_retardation_autosomal_dominant_20 Mental Retardation, Autosomal Dominant 20 MEF2C DOID:0070050 cardiomyopathy, familial restrictive, 3 cardiomyopathy_familial_restrictive_3 Cardiomyopathy, Familial Restrictive, 3 TNNT2 microcephaly 5, primary, autosomal recessive microcephaly_5_primary_autosomal_recessive Microcephaly 5, Primary, Autosomal Recessive ASPM microcephaly 3, primary, autosomal recessive microcephaly_3_primary_autosomal_recessive Microcephaly 3, Primary, Autosomal Recessive CDK5RAP2 deafness, autosomal recessive 39 deafness_autosomal_recessive_39 Deafness, Autosomal Recessive 39 HGF DOID:0110497 melanoma-astrocytoma syndrome melanoma_astrocytoma_syndrome_2 Melanoma-Astrocytoma Syndrome CDKN2A breast cancer breast_cancer Breast Cancer SLC22A18 DOID:3459 pilomatrixoma pilomatrixoma Pilomatrixoma MUTYH DOID:5374 breast cancer breast_cancer Breast Cancer TSG101 DOID:3459 glaucoma 1, open angle, f glaucoma_1_open_angle_f Glaucoma 1, Open Angle, F ASB10 glass syndrome glass_syndrome Glass Syndrome SATB2 DOID:0060428 pitt-hopkins-like syndrome 2 pitt_hopkins_like_syndrome_2 Pitt-Hopkins-Like Syndrome 2 NRXN1 sudden infant death syndrome sudden_infant_death_syndrome Sudden Infant Death Syndrome SCN5A DOID:9007 abcd syndrome abcd_syndrome Abcd Syndrome EDNRB DOID:0050600 barrett esophagus barrett_esophagus Barrett Esophagus MSR1 DOID:9206 epileptic encephalopathy, early infantile, 54 epileptic_encephalopathy_early_infantile_54 Epileptic Encephalopathy, Early Infantile, 54 HNRNPU short-rib thoracic dysplasia 17 with or without polydactyly short_rib_thoracic_dysplasia_17_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly TCTEX1D2 neural tube defects neural_tube_defects Neural Tube Defects VANGL1 DOID:0080074 prostate cancer prostate_cancer Prostate Cancer KLF6 DOID:10286 senior-loken syndrome 7 senior_loken_syndrome_7 Senior-Loken Syndrome 7 SDCCAG8 prostate cancer, hereditary, 1 prostate_cancer_hereditary_1 Prostate Cancer, Hereditary, 1 RNASEL adams-oliver syndrome 2 adams_oliver_syndrome_2 Adams-Oliver Syndrome 2 DOCK6 ectopia lentis et pupillae ectopia_lentis_et_pupillae Ectopia Lentis Et Pupillae ADAMTSL4 greenberg dysplasia greenberg_dysplasia Greenberg Dysplasia LBR diamond-blackfan anemia 4 diamond_blackfan_anemia_4 Diamond-Blackfan Anemia 4 RPS17 oculodentodigital dysplasia, autosomal recessive oculodentodigital_dysplasia_autosomal_recessive Oculodentodigital Dysplasia, Autosomal Recessive GJA1 cone-rod dystrophy and hearing loss cone_rod_dystrophy_and_hearing_loss Cone-Rod Dystrophy and Hearing Loss CEP78 sarcoma, synovial sarcoma_synovial Sarcoma, Synovial SSX1 DOID:5485 ciliary dyskinesia, primary, 35 ciliary_dyskinesia_primary_35 Ciliary Dyskinesia, Primary, 35 TTC25 DOID:0110620 fanconi anemia, complementation group p fanconi_anemia_complementation_group_p Fanconi Anemia, Complementation Group P SLX4 DOID:0111092 cone-rod dystrophy 9 cone_rod_dystrophy_9 Cone-Rod Dystrophy 9 ADAM9 DOID:0111020 seckel syndrome 1 seckel_syndrome_1 Seckel Syndrome 1 ATR DOID:0070007 systemic lupus erythematosus systemic_lupus_erythematosus Systemic Lupus Erythematosus PTPN22 DOID:9074 schizencephaly schizencephaly Schizencephaly EMX2 deafness, autosomal recessive 31 deafness_autosomal_recessive_31 Deafness, Autosomal Recessive 31 WHRN DOID:0110490 breast cancer breast_cancer Breast Cancer RB1CC1 DOID:3459 anterior segment dysgenesis 1 anterior_segment_dysgenesis_1 Anterior Segment Dysgenesis 1 PITX3 DOID:0060605 joubert syndrome 14 joubert_syndrome_14 Joubert Syndrome 14 TMEM237 DOID:0110983 robinow-sorauf syndrome robinow_sorauf_syndrome_2 Robinow-Sorauf Syndrome TWIST1 joubert syndrome 13 joubert_syndrome_13 Joubert Syndrome 13 TCTN1 DOID:0110982 spastic paraplegia 47, autosomal recessive spastic_paraplegia_47_autosomal_recessive Spastic Paraplegia 47, Autosomal Recessive AP4B1 DOID:0110799 abruzzo-erickson syndrome abruzzo_erickson_syndrome_2 Abruzzo-Erickson Syndrome TBX22 deafness, autosomal recessive 76 deafness_autosomal_recessive_76 Deafness, Autosomal Recessive 76 SYNE4 DOID:0110524 joubert syndrome 15 joubert_syndrome_15 Joubert Syndrome 15 CEP41 DOID:0110984 deafness, autosomal recessive 16 deafness_autosomal_recessive_16 Deafness, Autosomal Recessive 16 STRC DOID:0110471 leber congenital amaurosis 12 leber_congenital_amaurosis_12 Leber Congenital Amaurosis 12 RD3 DOID:0110080 lissencephaly 4 lissencephaly_4 Lissencephaly 4 NDE1 deafness, autosomal recessive 21 deafness_autosomal_recessive_21 Deafness, Autosomal Recessive 21 TECTA DOID:0110479 warburg micro syndrome 2 warburg_micro_syndrome_2 Warburg Micro Syndrome 2 RAB3GAP2 DOID:0110717 deafness, autosomal dominant 5 deafness_autosomal_dominant_5 Deafness, Autosomal Dominant 5 GSDME DOID:0110575 amyotrophic lateral sclerosis 2, juvenile amyotrophic_lateral_sclerosis_2_juvenile Amyotrophic Lateral Sclerosis 2, Juvenile ALS2 DOID:0060194 spastic paraplegia 52, autosomal recessive spastic_paraplegia_52_autosomal_recessive Spastic Paraplegia 52, Autosomal Recessive AP4S1 DOID:0110804 hepatic adenomas, familial hepatic_adenomas_familial Hepatic Adenomas, Familial HNF1A deafness, autosomal recessive 93 deafness_autosomal_recessive_93 Deafness, Autosomal Recessive 93 CABP2 DOID:0110537 meningioma, familial meningioma_familial Meningioma, Familial NF2 DOID:4586 deafness, autosomal dominant 67 deafness_autosomal_dominant_67 Deafness, Autosomal Dominant 67 OSBPL2 DOID:0110588 retinitis pigmentosa 31 retinitis_pigmentosa_31 Retinitis Pigmentosa 31 TOPORS DOID:0110391 arrhythmogenic right ventricular dysplasia, familial, 1 arrhythmogenic_right_ventricular_dysplasia_familial_1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 TGFB3 DOID:0110070 immunodeficiency 19 immunodeficiency_19 Immunodeficiency 19 CD3D DOID:0060016 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma CASP8 DOID:916 immunodeficiency 18 immunodeficiency_18 Immunodeficiency 18 CD3E DOID:0060017 gastric cancer gastric_cancer Gastric Cancer FGFR2 DOID:5517 breast cancer breast_cancer Breast Cancer KRAS DOID:3459 achromatopsia 4 achromatopsia_4 Achromatopsia 4 GNAT2 DOID:0110010 epilepsy, idiopathic generalized 10 epilepsy_idiopathic_generalized_10_2 Epilepsy, Idiopathic Generalized 10 GABRD DOID:4890 robinow syndrome, autosomal dominant 2 robinow_syndrome_autosomal_dominant_2 Robinow Syndrome, Autosomal Dominant 2 DVL1 DOID:0060765 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid DNMT3A DOID:9119 colorectal cancer colorectal_cancer Colorectal Cancer EP300 DOID:9256 mesothelioma, malignant mesothelioma_malignant Mesothelioma, Malignant WT1 DOID:1790 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome GATA2 DOID:0050908 bladder cancer bladder_cancer Bladder Cancer KRAS DOID:4007 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck TNFRSF10B DOID:5520 townes-brocks syndrome 1 townes_brocks_syndrome_1 Townes-Brocks Syndrome 1 SALL1 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFS3 DOID:3652 aural atresia, congenital aural_atresia_congenital Aural Atresia, Congenital TSHZ1 epilepsy, familial focal, with variable foci 3 epilepsy_familial_focal_with_variable_foci_3 Epilepsy, Familial Focal, with Variable Foci 3 NPRL3 cornelia de lange syndrome 3 cornelia_de_lange_syndrome_3 Cornelia De Lange Syndrome 3 SMC3 short-rib thoracic dysplasia 14 with polydactyly short_rib_thoracic_dysplasia_14_with_polydactyly Short-Rib Thoracic Dysplasia 14 with Polydactyly KIAA0586 DOID:0110096 ciliary dyskinesia, primary, 28 ciliary_dyskinesia_primary_28 Ciliary Dyskinesia, Primary, 28 SPAG1 DOID:0110607 hypoplastic left heart syndrome 1 hypoplastic_left_heart_syndrome_1 Hypoplastic Left Heart Syndrome 1 GJA1 deafness, autosomal recessive 18a deafness_autosomal_recessive_18a Deafness, Autosomal Recessive 18a USH1C DOID:0110473 mosaic variegated aneuploidy syndrome 2 mosaic_variegated_aneuploidy_syndrome_2 Mosaic Variegated Aneuploidy Syndrome 2 CEP57 DOID:0080142 luscan-lumish syndrome luscan_lumish_syndrome Luscan-Lumish Syndrome SETD2 atrial fibrillation, familial, 7 atrial_fibrillation_familial_7 Atrial Fibrillation, Familial, 7 KCNA5 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid KRAS DOID:9119 newfoundland rod-cone dystrophy newfoundland_rod_cone_dystrophy Newfoundland Rod-Cone Dystrophy RLBP1 DOID:0111015 ciliary dyskinesia, primary, 30 ciliary_dyskinesia_primary_30 Ciliary Dyskinesia, Primary, 30 CCDC151 DOID:0110624 ciliary dyskinesia, primary, 27 ciliary_dyskinesia_primary_27 Ciliary Dyskinesia, Primary, 27 CCDC65 DOID:0110611 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration hypoprebetalipoproteinemia_acanthocytosis_retinitis_pigmentosa_and_pallidal_degeneration Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration PANK2 ciliary dyskinesia, primary, 32 ciliary_dyskinesia_primary_32 Ciliary Dyskinesia, Primary, 32 RSPH3 DOID:0110603 immunodeficiency-centromeric instability-facial anomalies syndrome 4 immunodeficiency_centromeric_instability_facial_anomalies_syndrome_4 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 HELLS DOID:0090011 glaucoma 1, open angle, o glaucoma_1_open_angle_o Glaucoma 1, Open Angle, O NTF4 epidermolysis bullosa simplex, generalized, with scarring and hair loss epidermolysis_bullosa_simplex_generalized_with_scarring_and_hair_loss Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss KLHL24 epileptic encephalopathy, early infantile, 37 epileptic_encephalopathy_early_infantile_37 Epileptic Encephalopathy, Early Infantile, 37 FRRS1L high molecular weight kininogen deficiency high_molecular_weight_kininogen_deficiency_2 High Molecular Weight Kininogen Deficiency KNG1 immunodeficiency, common variable, 1 immunodeficiency_common_variable_1 Immunodeficiency, Common Variable, 1 ICOS neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset neurodegeneration_with_ataxia_dystonia_and_gaze_palsy_childhood_onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset SQSTM1 cowden syndrome 3 cowden_syndrome_3 Cowden Syndrome 3 SDHD ciliary dyskinesia, primary, 6 ciliary_dyskinesia_primary_6 Ciliary Dyskinesia, Primary, 6 NME8 DOID:0110606 mental retardation, autosomal recessive 42 mental_retardation_autosomal_recessive_42 Mental Retardation, Autosomal Recessive 42 PGAP1 arthrogryposis, renal dysfunction, and cholestasis 2 arthrogryposis_renal_dysfunction_and_cholestasis_2 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 VIPAS39 dystonia 28, childhood-onset dystonia_28_childhood_onset Dystonia 28, Childhood-Onset KMT2B craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome craniofacial_dysmorphism_skeletal_anomalies_and_mental_retardation_syndrome Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome TMCO1 atrial fibrillation, familial, 6 atrial_fibrillation_familial_6 Atrial Fibrillation, Familial, 6 NPPA senior-loken syndrome 5 senior_loken_syndrome_5 Senior-Loken Syndrome 5 IQCB1 linear skin defects with multiple congenital anomalies 2 linear_skin_defects_with_multiple_congenital_anomalies_2 Linear Skin Defects with Multiple Congenital Anomalies 2 COX7B aortic valve disease 1 aortic_valve_disease_1 Aortic Valve Disease 1 NOTCH1 DOID:62 cone-rod dystrophy, x-linked, 3 cone_rod_dystrophy_x_linked_3_2 Cone-Rod Dystrophy, X-Linked, 3 CACNA1F DOID:0111007 cone-rod dystrophy, x-linked, 1 cone_rod_dystrophy_x_linked_1_2 Cone-Rod Dystrophy, X-Linked, 1 RPGR DOID:0111008 peroxisome biogenesis disorder 6a peroxisome_biogenesis_disorder_6a Peroxisome Biogenesis Disorder 6a PEX10 ectodermal dysplasia 9, hair/nail type ectodermal_dysplasia_9_hair_nail_type Ectodermal Dysplasia 9, Hair/nail Type HOXC13 diamond-blackfan anemia 15 with mandibulofacial dysostosis diamond_blackfan_anemia_15_with_mandibulofacial_dysostosis_2 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis RPS28 hydatidiform mole, recurrent, 2 hydatidiform_mole_recurrent_2 Hydatidiform Mole, Recurrent, 2 KHDC3L de sanctis-cacchione syndrome de_sanctis_cacchione_syndrome De Sanctis-Cacchione Syndrome ERCC6 epileptic encephalopathy, early infantile, 48 epileptic_encephalopathy_early_infantile_48 Epileptic Encephalopathy, Early Infantile, 48 AP3B2 retinitis pigmentosa and erythrocytic microcytosis retinitis_pigmentosa_and_erythrocytic_microcytosis Retinitis Pigmentosa and Erythrocytic Microcytosis TRNT1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ataxia_combined_cerebellar_and_peripheral_with_hearing_loss_and_diabetes_mellitus Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus DNAJC3 ciliary dyskinesia, primary, 36, x-linked ciliary_dyskinesia_primary_36_x_linked Ciliary Dyskinesia, Primary, 36, X-Linked PIH1D3 simpson-golabi-behmel syndrome, type 2 simpson_golabi_behmel_syndrome_type_2 Simpson-Golabi-Behmel Syndrome, Type 2 OFD1 candidiasis, familial, 9 candidiasis_familial_9 Candidiasis, Familial, 9 IL17RC mental retardation, anterior maxillary protrusion, and strabismus mental_retardation_anterior_maxillary_protrusion_and_strabismus Mental Retardation, Anterior Maxillary Protrusion, and Strabismus SOBP mental retardation, autosomal dominant 29 mental_retardation_autosomal_dominant_29 Mental Retardation, Autosomal Dominant 29 SETBP1 DOID:0070059 mental retardation, autosomal dominant 30 mental_retardation_autosomal_dominant_30 Mental Retardation, Autosomal Dominant 30 ZMYND11 DOID:0070060 mental retardation, autosomal dominant 40 mental_retardation_autosomal_dominant_40 Mental Retardation, Autosomal Dominant 40 CHAMP1 DOID:0070070 ciliary dyskinesia, primary, 20 ciliary_dyskinesia_primary_20 Ciliary Dyskinesia, Primary, 20 CCDC114 DOID:0110625 myoglobinuria, acute recurrent, autosomal recessive myoglobinuria_acute_recurrent_autosomal_recessive Myoglobinuria, Acute Recurrent, Autosomal Recessive LPIN1 ciliary dyskinesia, primary, 14 ciliary_dyskinesia_primary_14 Ciliary Dyskinesia, Primary, 14 CCDC39 DOID:0110598 cleft palate, cardiac defects, and mental retardation cleft_palate_cardiac_defects_and_mental_retardation Cleft Palate, Cardiac Defects, and Mental Retardation MEIS2 dowling-degos disease 2 dowling_degos_disease_2 Dowling-Degos Disease 2 POFUT1 heterotaxy, visceral, 6, autosomal heterotaxy_visceral_6_autosomal Heterotaxy, Visceral, 6, Autosomal CFAP53 sessile serrated polyposis cancer syndrome sessile_serrated_polyposis_cancer_syndrome Sessile Serrated Polyposis Cancer Syndrome RNF43 ciliary dyskinesia, primary, 26 ciliary_dyskinesia_primary_26 Ciliary Dyskinesia, Primary, 26 CFAP298 DOID:0110627 gillessen-kaesbach-nishimura syndrome gillessen_kaesbach_nishimura_syndrome Gillessen-Kaesbach-Nishimura Syndrome ALG9 immunodeficiency 51 immunodeficiency_51 Immunodeficiency 51 IL17RA robinow syndrome, autosomal dominant 3 robinow_syndrome_autosomal_dominant_3 Robinow Syndrome, Autosomal Dominant 3 DVL3 DOID:0060767 cataract 39, multiple types cataract_39_multiple_types Cataract 39, Multiple Types CRYGB DOID:0110236 peroxisome biogenesis disorder 4b peroxisome_biogenesis_disorder_4b Peroxisome Biogenesis Disorder 4b PEX6 cortisone reductase deficiency 2 cortisone_reductase_deficiency_2 Cortisone Reductase Deficiency 2 HSD11B1 DOID:0090140 diamond-blackfan anemia 8 diamond_blackfan_anemia_8 Diamond-Blackfan Anemia 8 RPS7 joubert syndrome 25 joubert_syndrome_25 Joubert Syndrome 25 CEP104 DOID:0110994 cone-rod dystrophy 18 cone_rod_dystrophy_18 Cone-Rod Dystrophy 18 RAB28 DOID:0111024 kabuki syndrome 2 kabuki_syndrome_2 Kabuki Syndrome 2 KDM6A holoprosencephaly 9 holoprosencephaly_9_2 Holoprosencephaly 9 GLI2 DOID:0110873 cerebral palsy, spastic quadriplegic, 2 cerebral_palsy_spastic_quadriplegic_2 Cerebral Palsy, Spastic Quadriplegic, 2 KANK1 deafness, x-linked 4 deafness_x_linked_4 Deafness, X-Linked 4 SMPX mental retardation, autosomal recessive 27 mental_retardation_autosomal_recessive_27 Mental Retardation, Autosomal Recessive 27 LINS1 peroxisome biogenesis disorder 11a peroxisome_biogenesis_disorder_11a Peroxisome Biogenesis Disorder 11a PEX13 ciliary dyskinesia, primary, 9 ciliary_dyskinesia_primary_9 Ciliary Dyskinesia, Primary, 9 DNAI2 DOID:0110622 glaucoma 3, primary congenital, d glaucoma_3_primary_congenital_d Glaucoma 3, Primary Congenital, D LTBP2 microcephaly and chorioretinopathy, autosomal recessive, 3 microcephaly_and_chorioretinopathy_autosomal_recessive_3 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 TUBGCP4 diamond-blackfan anemia 3 diamond_blackfan_anemia_3 Diamond-Blackfan Anemia 3 RPS24 ciliary dyskinesia, primary, 17 ciliary_dyskinesia_primary_17 Ciliary Dyskinesia, Primary, 17 CCDC103 DOID:0110621 klippel-feil syndrome 2, autosomal recessive klippel_feil_syndrome_2_autosomal_recessive Klippel-Feil Syndrome 2, Autosomal Recessive MEOX1 meester-loeys syndrome meester_loeys_syndrome Meester-Loeys Syndrome BGN mental retardation, autosomal dominant 43 mental_retardation_autosomal_dominant_43 Mental Retardation, Autosomal Dominant 43 HIVEP2 DOID:0070073 diamond-blackfan anemia 9 diamond_blackfan_anemia_9 Diamond-Blackfan Anemia 9 RPS10 mental retardation, autosomal dominant 39 mental_retardation_autosomal_dominant_39 Mental Retardation, Autosomal Dominant 39 MYT1L DOID:0070069 hypospadias 2, x-linked hypospadias_2_x_linked Hypospadias 2, X-Linked MAMLD1 immunodeficiency, common variable, 12 immunodeficiency_common_variable_12 Immunodeficiency, Common Variable, 12 NFKB1 hypobetalipoproteinemia, familial, 2 hypobetalipoproteinemia_familial_2 Hypobetalipoproteinemia, Familial, 2 ANGPTL3 DOID:0111061 mental retardation, autosomal recessive 44 mental_retardation_autosomal_recessive_44 Mental Retardation, Autosomal Recessive 44 METTL23 microphthalmia, isolated, with coloboma 9 microphthalmia_isolated_with_coloboma_9 Microphthalmia, Isolated, with Coloboma 9 TENM3 premature ovarian failure 8 premature_ovarian_failure_8 Premature Ovarian Failure 8 STAG3 ciliary dyskinesia, primary, 5 ciliary_dyskinesia_primary_5 Ciliary Dyskinesia, Primary, 5 HYDIN DOID:0110617 peroxisome biogenesis disorder 13a peroxisome_biogenesis_disorder_13a Peroxisome Biogenesis Disorder 13a PEX14 polymicrogyria, bilateral perisylvian, autosomal recessive polymicrogyria_bilateral_perisylvian_autosomal_recessive Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive ADGRG1 diaphragmatic hernia 3 diaphragmatic_hernia_3 Diaphragmatic Hernia 3 ZFPM2 microcephaly and chorioretinopathy, autosomal recessive, 2 microcephaly_and_chorioretinopathy_autosomal_recessive_2 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 PLK4 peroxisome biogenesis disorder 8a peroxisome_biogenesis_disorder_8a_2 Peroxisome Biogenesis Disorder 8a PEX16 mirror movements 2 mirror_movements_2 Mirror Movements 2 RAD51 peeling skin syndrome 5 peeling_skin_syndrome_5 Peeling Skin Syndrome 5 SERPINB8 ciliary dyskinesia, primary, 12 ciliary_dyskinesia_primary_12 Ciliary Dyskinesia, Primary, 12 RSPH9 DOID:0110601 immunodeficiency 32b immunodeficiency_32b Immunodeficiency 32b IRF8 specific granule deficiency 2 specific_granule_deficiency_2 Specific Granule Deficiency 2 SMARCD2 deafness, autosomal recessive 84b deafness_autosomal_recessive_84b Deafness, Autosomal Recessive 84b OTOGL DOID:0110530 mental retardation, autosomal recessive 56 mental_retardation_autosomal_recessive_56 Mental Retardation, Autosomal Recessive 56 ZC3H14 retinitis pigmentosa 41 retinitis_pigmentosa_41 Retinitis Pigmentosa 41 PROM1 DOID:0110376 ciliary dyskinesia, primary, 10 ciliary_dyskinesia_primary_10 Ciliary Dyskinesia, Primary, 10 DNAAF2 DOID:0110612 bleeding disorder, platelet-type, 13 bleeding_disorder_platelet_type_13 Bleeding Disorder, Platelet-Type, 13 TBXA2R epilepsy, familial adult myoclonic, 2 epilepsy_familial_adult_myoclonic_2 Epilepsy, Familial Adult Myoclonic, 2 ADRA2B mental retardation, autosomal recessive 47 mental_retardation_autosomal_recessive_47 Mental Retardation, Autosomal Recessive 47 FMN2 nephrotic syndrome, type 8 nephrotic_syndrome_type_8 Nephrotic Syndrome, Type 8 ARHGDIA heme oxygenase 1 deficiency heme_oxygenase_1_deficiency_2 Heme Oxygenase 1 Deficiency HMOX1 complement component c1s deficiency complement_component_c1s_deficiency Complement Component C1s Deficiency C1S mental retardation, x-linked 21 mental_retardation_x_linked_21 Mental Retardation, X-Linked 21 IL1RAPL1 myopia 23, autosomal recessive myopia_23_autosomal_recessive Myopia 23, Autosomal Recessive LRPAP1 retinitis pigmentosa 56 retinitis_pigmentosa_56 Retinitis Pigmentosa 56 IMPG2 DOID:0110371 spermatogenic failure 9 spermatogenic_failure_9 Spermatogenic Failure 9 DPY19L2 anemia, sideroblastic, 4 anemia_sideroblastic_4 Anemia, Sideroblastic, 4 HSPA9 hemophagocytic lymphohistiocytosis, familial, 4 hemophagocytic_lymphohistiocytosis_familial_4 Hemophagocytic Lymphohistiocytosis, Familial, 4 STX11 DOID:0110924 retinitis pigmentosa 69 retinitis_pigmentosa_69 Retinitis Pigmentosa 69 KIZ DOID:0110410 cutis laxa, autosomal dominant 2 cutis_laxa_autosomal_dominant_2 Cutis Laxa, Autosomal Dominant 2 FBLN5 DOID:0070136 elliptocytosis 3 elliptocytosis_3 Elliptocytosis 3 SPTB deafness, autosomal recessive 1b deafness_autosomal_recessive_1b Deafness, Autosomal Recessive 1b GJB6 DOID:0110476 dowling-degos disease 1 dowling_degos_disease_1 Dowling-Degos Disease 1 KRT5 peroxisome biogenesis disorder 2a peroxisome_biogenesis_disorder_2a Peroxisome Biogenesis Disorder 2a PEX5 spermatogenic failure 12 spermatogenic_failure_12 Spermatogenic Failure 12 NANOS1 immunodeficiency 36 immunodeficiency_36 Immunodeficiency 36 PIK3R1 focal segmental glomerulosclerosis 3 focal_segmental_glomerulosclerosis_3 Focal Segmental Glomerulosclerosis 3 CD2AP joubert syndrome 10 joubert_syndrome_10 Joubert Syndrome 10 OFD1 DOID:0110981 adams-oliver syndrome 1 adams_oliver_syndrome_1 Adams-Oliver Syndrome 1 ARHGAP31 agammaglobulinemia 3, autosomal recessive agammaglobulinemia_3_autosomal_recessive Agammaglobulinemia 3, Autosomal Recessive CD79A joubert syndrome 28 joubert_syndrome_28 Joubert Syndrome 28 MKS1 DOID:0110997 retinal cone dystrophy 4 retinal_cone_dystrophy_4 Retinal Cone Dystrophy 4 CACNA2D4 lethal congenital contracture syndrome 4 lethal_congenital_contracture_syndrome_4 Lethal Congenital Contracture Syndrome 4 MYBPC1 DOID:0060654 myasthenic syndrome, congenital, 19 myasthenic_syndrome_congenital_19 Myasthenic Syndrome, Congenital, 19 COL13A1 DOID:0110673 deafness, autosomal recessive 105 deafness_autosomal_recessive_105 Deafness, Autosomal Recessive 105 CDC14A DOID:0110466 myoclonus, intractable, neonatal myoclonus_intractable_neonatal Myoclonus, Intractable, Neonatal KIF5A immunodeficiency 44 immunodeficiency_44 Immunodeficiency 44 STAT2 melanoma, cutaneous malignant 8 melanoma_cutaneous_malignant_8 Melanoma, Cutaneous Malignant 8 MITF rhabdomyosarcoma, embryonal, 2 rhabdomyosarcoma_embryonal_2 Rhabdomyosarcoma, Embryonal, 2 DICER1 retinitis pigmentosa 79 retinitis_pigmentosa_79 Retinitis Pigmentosa 79 HK1 ichthyosis, congenital, autosomal recessive 12 ichthyosis_congenital_autosomal_recessive_12 Ichthyosis, Congenital, Autosomal Recessive 12 CASP14 nephronophthisis 20 nephronophthisis_20 Nephronophthisis 20 MAPKBP1 DOID:0111127 osteopetrosis, autosomal recessive 5 osteopetrosis_autosomal_recessive_5_2 Osteopetrosis, Autosomal Recessive 5 OSTM1 DOID:0110939 premature ovarian failure 6 premature_ovarian_failure_6 Premature Ovarian Failure 6 FIGLA urofacial syndrome 2 urofacial_syndrome_2 Urofacial Syndrome 2 LRIG2 joubert syndrome 24 joubert_syndrome_24 Joubert Syndrome 24 TCTN2 DOID:0110993 sarcoma, synovial sarcoma_synovial Sarcoma, Synovial SSX2 DOID:5485 metaphyseal anadysplasia 2 metaphyseal_anadysplasia_2 Metaphyseal Anadysplasia 2 MMP9 deafness, autosomal dominant 50 deafness_autosomal_dominant_50 Deafness, Autosomal Dominant 50 MIR96 DOID:0110576 spherocytosis, type 3 spherocytosis_type_3 Spherocytosis, Type 3 SPTA1 DOID:0110918 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations NKX2-5 retinitis pigmentosa 47 retinitis_pigmentosa_47_2 Retinitis Pigmentosa 47 SAG DOID:0110369 nephronophthisis 19 nephronophthisis_19 Nephronophthisis 19 DCDC2 DOID:0111126 hypereosinophilic syndrome, idiopathic hypereosinophilic_syndrome_idiopathic Hypereosinophilic Syndrome, Idiopathic PDGFRA joubert syndrome 26 joubert_syndrome_26 Joubert Syndrome 26 KIAA0556 DOID:0110995 hypotrichosis 4 hypotrichosis_4 Hypotrichosis 4 HR DOID:0110701 glucocorticoid deficiency 2 glucocorticoid_deficiency_2 Glucocorticoid Deficiency 2 MRAP joubert syndrome 4 joubert_syndrome_4 Joubert Syndrome 4 NPHP1 DOID:0110999 cleft lip/palate-ectodermal dysplasia syndrome cleft_lip_palate_ectodermal_dysplasia_syndrome_2 Cleft Lip/palate-Ectodermal Dysplasia Syndrome NECTIN1 DOID:0060773 cataract 40 cataract_40 Cataract 40 NHS DOID:0110272 schwannomatosis 1 schwannomatosis_1_2 Schwannomatosis 1 NF2 dementia, lewy body dementia_lewy_body Dementia, Lewy Body SNCB DOID:12217 lymphoproliferative syndrome, x-linked, 2 lymphoproliferative_syndrome_x_linked_2 Lymphoproliferative Syndrome, X-Linked, 2 XIAP DOID:0060706 cfhr5 deficiency cfhr5_deficiency Cfhr5 Deficiency CFHR5 okt4 epitope deficiency okt4_epitope_deficiency Okt4 Epitope Deficiency CD4 hypotrichosis 2 hypotrichosis_2 Hypotrichosis 2 CDSN DOID:0110699 thrombocytopenia 3 thrombocytopenia_3 Thrombocytopenia 3 FYB1 sengers syndrome sengers_syndrome Sengers Syndrome AGK DOID:0080132 usher syndrome, type ic usher_syndrome_type_ic Usher Syndrome, Type Ic USH1C DOID:0110830 nephronophthisis 7 nephronophthisis_7 Nephronophthisis 7 GLIS2 DOID:0111116 osteogenesis imperfecta, type xi osteogenesis_imperfecta_type_xi_2 Osteogenesis Imperfecta, Type Xi FKBP10 DOID:0110351 cataract 10, multiple types cataract_10_multiple_types Cataract 10, Multiple Types CRYBA1 DOID:0110258 osteogenesis imperfecta, type viii osteogenesis_imperfecta_type_viii Osteogenesis Imperfecta, Type Viii P3H1 DOID:0110336 hyperglycinuria hyperglycinuria Hyperglycinuria SLC6A19 corneal dystrophy, posterior polymorphous, 3 corneal_dystrophy_posterior_polymorphous_3 Corneal Dystrophy, Posterior Polymorphous, 3 ZEB1 DOID:0110857 pancreatic cancer pancreatic_cancer Pancreatic Cancer STK11 DOID:4905 charcot-marie-tooth disease, axonal, type 2cc charcot_marie_tooth_disease_axonal_type_2cc_2 Charcot-Marie-Tooth Disease, Axonal, Type 2cc NEFH DOID:0110180 deafness, autosomal recessive 4, with enlarged vestibular aqueduct deafness_autosomal_recessive_4_with_enlarged_vestibular_aqueduct Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 DOID:0110498 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome COX10 DOID:3652 coumarin resistance coumarin_resistance Coumarin Resistance CYP2C9 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot TBX1 DOID:6419 lung cancer lung_cancer Lung Cancer PPP2R1B DOID:3908 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFAF6 DOID:3652 colorectal cancer colorectal_cancer Colorectal Cancer FGFR3 DOID:9256 pick disease of brain pick_disease_of_brain Pick Disease of Brain PSEN1 DOID:11870 deafness, autosomal recessive 4, with enlarged vestibular aqueduct deafness_autosomal_recessive_4_with_enlarged_vestibular_aqueduct Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 DOID:0110498 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS3 DOID:0060536 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome SF3B1 DOID:0050908 arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain KRAS DOID:0060688 palmoplantar keratoderma, epidermolytic palmoplantar_keratoderma_epidermolytic Palmoplantar Keratoderma, Epidermolytic KRT1 DOID:0080223 gastric cancer gastric_cancer Gastric Cancer KLF6 DOID:5517 left ventricular noncompaction 1 left_ventricular_noncompaction_1 Left Ventricular Noncompaction 1 DTNA lipodystrophy, partial, acquired lipodystrophy_partial_acquired Lipodystrophy, Partial, Acquired LMNB2 autoimmune lymphoproliferative syndrome, type iii autoimmune_lymphoproliferative_syndrome_type_iii Autoimmune Lymphoproliferative Syndrome, Type Iii PRKCD DOID:0110119 neuronopathy, distal hereditary motor, type viia neuronopathy_distal_hereditary_motor_type_viia Neuronopathy, Distal Hereditary Motor, Type Viia SLC5A7 vas deferens, congenital bilateral aplasia of, x-linked vas_deferens_congenital_bilateral_aplasia_of_x_linked Vas Deferens, Congenital Bilateral Aplasia of, X-Linked ADGRG2 fetal hemoglobin quantitative trait locus 1 fetal_hemoglobin_quantitative_trait_locus_1 Fetal Hemoglobin Quantitative Trait Locus 1 HBG2 pontocerebellar hypoplasia, type 1a pontocerebellar_hypoplasia_type_1a_2 Pontocerebellar Hypoplasia, Type 1a VRK1 DOID:0060265 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_5 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B alpha-fetoprotein, hereditary persistence of alpha_fetoprotein_hereditary_persistence_of Alpha-Fetoprotein, Hereditary Persistence of AFP mitochondrial complex iii deficiency, nuclear type 2 mitochondrial_complex_iii_deficiency_nuclear_type_2 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 DOID:0060351 amelogenesis imperfecta, hypomaturation type, iia3 amelogenesis_imperfecta_hypomaturation_type_iia3 Amelogenesis Imperfecta, Hypomaturation Type, Iia3 WDR72 DOID:0110061 amelogenesis imperfecta, hypomaturation type, iia2 amelogenesis_imperfecta_hypomaturation_type_iia2 Amelogenesis Imperfecta, Hypomaturation Type, Iia2 MMP20 DOID:0110060 meier-gorlin syndrome 7 meier_gorlin_syndrome_7 Meier-Gorlin Syndrome 7 CDC45 polycystic liver disease 1 with or without kidney cysts polycystic_liver_disease_1_with_or_without_kidney_cysts Polycystic Liver Disease 1 with or Without Kidney Cysts PRKCSH night blindness, congenital stationary, type 1h night_blindness_congenital_stationary_type_1h Night Blindness, Congenital Stationary, Type 1h GNB3 DOID:0110866 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_1 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 HOXA11 usher syndrome, type iid usher_syndrome_type_iid Usher Syndrome, Type Iid WHRN DOID:0110840 cone-rod dystrophy 21 cone_rod_dystrophy_21 Cone-Rod Dystrophy 21 DRAM2 krabbe disease, atypical, due to saposin a deficiency krabbe_disease_atypical_due_to_saposin_a_deficiency_2 Krabbe Disease, Atypical, Due to Saposin a Deficiency PSAP amelogenesis imperfecta, hypomaturation type, iia1 amelogenesis_imperfecta_hypomaturation_type_iia1 Amelogenesis Imperfecta, Hypomaturation Type, Iia1 KLK4 maturity-onset diabetes of the young, type 11 maturity_onset_diabetes_of_the_young_type_11 Maturity-Onset Diabetes of the Young, Type 11 BLK DOID:0111109 ehlers-danlos syndrome, arthrochalasia type, 2 ehlers_danlos_syndrome_arthrochalasia_type_2_2 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 COL1A2 three m syndrome 2 three_m_syndrome_2 Three M Syndrome 2 OBSL1 nemaline myopathy 11, autosomal recessive nemaline_myopathy_11_autosomal_recessive Nemaline Myopathy 11, Autosomal Recessive MYPN DOID:0110933 46,xy sex reversal 2 46xy_sex_reversal_2 46,xy Sex Reversal 2 NR0B1 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome hypotrichosis_lymphedema_telangiectasia_renal_defect_syndrome Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome SOX18 keratosis palmoplantaris striata ii keratosis_palmoplantaris_striata_ii Keratosis Palmoplantaris Striata Ii DSP corneal dystrophy, fuchs endothelial, 3 corneal_dystrophy_fuchs_endothelial_3 Corneal Dystrophy, Fuchs Endothelial, 3 TCF4 ectopia lentis 2, isolated, autosomal recessive ectopia_lentis_2_isolated_autosomal_recessive Ectopia Lentis 2, Isolated, Autosomal Recessive ADAMTSL4 DOID:0111149 hemoglobin h disease hemoglobin_h_disease Hemoglobin H Disease HBA1 DOID:0110031 pigmented nodular adrenocortical disease, primary, 1 pigmented_nodular_adrenocortical_disease_primary_1 Pigmented Nodular Adrenocortical Disease, Primary, 1 PRKAR1A spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 USP9Y hydrocephalus, nonsyndromic, autosomal recessive 2 hydrocephalus_nonsyndromic_autosomal_recessive_2 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 MPDZ lymphedema, hereditary, iii lymphedema_hereditary_iii Lymphedema, Hereditary, Iii PIEZO1 pseudoxanthoma elasticum, forme fruste pseudoxanthoma_elasticum_forme_fruste Pseudoxanthoma Elasticum, Forme Fruste ABCC6 congenital disorder of glycosylation, type iq congenital_disorder_of_glycosylation_type_iq Congenital Disorder of Glycosylation, Type Iq SRD5A3 thyroid hormone resistance, generalized, autosomal recessive thyroid_hormone_resistance_generalized_autosomal_recessive Thyroid Hormone Resistance, Generalized, Autosomal Recessive THRB macular degeneration, x-linked atrophic macular_degeneration_x_linked_atrophic Macular Degeneration, X-Linked Atrophic RPGR peroxisome biogenesis disorder 12a peroxisome_biogenesis_disorder_12a Peroxisome Biogenesis Disorder 12a PEX19 epileptic encephalopathy, early infantile, 12 epileptic_encephalopathy_early_infantile_12 Epileptic Encephalopathy, Early Infantile, 12 PLCB1 bleeding disorder, platelet-type, 17 bleeding_disorder_platelet_type_17 Bleeding Disorder, Platelet-Type, 17 GFI1B DOID:0111049 spastic paraplegia 51, autosomal recessive spastic_paraplegia_51_autosomal_recessive Spastic Paraplegia 51, Autosomal Recessive AP4E1 epileptic encephalopathy, early infantile, 5 epileptic_encephalopathy_early_infantile_5 Epileptic Encephalopathy, Early Infantile, 5 SPTAN1 microphthalmia, isolated, with coloboma 6 microphthalmia_isolated_with_coloboma_6 Microphthalmia, Isolated, with Coloboma 6 GDF6 coffin-siris syndrome 2 coffin_siris_syndrome_2 Coffin-Siris Syndrome 2 ARID1A DOID:0070044 microphthalmia, isolated, with coloboma 5 microphthalmia_isolated_with_coloboma_5 Microphthalmia, Isolated, with Coloboma 5 SHH oocyte maturation defect 1 oocyte_maturation_defect_1 Oocyte Maturation Defect 1 ZP1 retinitis pigmentosa 7 retinitis_pigmentosa_7 Retinitis Pigmentosa 7 ROM1 DOID:0110383 mitochondrial complex iii deficiency, nuclear type 3 mitochondrial_complex_iii_deficiency_nuclear_type_3 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 UQCRB DOID:0080112 atrial septal defect 8 atrial_septal_defect_8 Atrial Septal Defect 8 CITED2 DOID:0110113 cardiomyopathy, familial hypertrophic, 18 cardiomyopathy_familial_hypertrophic_18 Cardiomyopathy, Familial Hypertrophic, 18 PLN DOID:0110324 ichthyosis, congenital, autosomal recessive 9 ichthyosis_congenital_autosomal_recessive_9 Ichthyosis, Congenital, Autosomal Recessive 9 CERS3 DOID:0060718 amelogenesis imperfecta, type ia amelogenesis_imperfecta_type_ia Amelogenesis Imperfecta, Type Ia LAMB3 DOID:0110054 ichthyosis, congenital, autosomal recessive 8 ichthyosis_congenital_autosomal_recessive_8 Ichthyosis, Congenital, Autosomal Recessive 8 LIPN DOID:0060717 peeling skin syndrome 4 peeling_skin_syndrome_4 Peeling Skin Syndrome 4 CSTA specific granule deficiency 1 specific_granule_deficiency_1 Specific Granule Deficiency 1 CEBPE microcephaly 8, primary, autosomal recessive microcephaly_8_primary_autosomal_recessive Microcephaly 8, Primary, Autosomal Recessive CEP135 ovarian cancer ovarian_cancer Ovarian Cancer PRKN DOID:2394 panhypopituitarism, x-linked panhypopituitarism_x_linked_2 Panhypopituitarism, X-Linked SOX3 amelogenesis imperfecta, hypomaturation type, iia4 amelogenesis_imperfecta_hypomaturation_type_iia4 Amelogenesis Imperfecta, Hypomaturation Type, Iia4 ODAPH DOID:0110062 metaphyseal dysplasia without hypotrichosis metaphyseal_dysplasia_without_hypotrichosis Metaphyseal Dysplasia Without Hypotrichosis RMRP retinitis pigmentosa 57 retinitis_pigmentosa_57 Retinitis Pigmentosa 57 PDE6G DOID:0110407 pulmonary hypertension, primary, 3 pulmonary_hypertension_primary_3 Pulmonary Hypertension, Primary, 3 CAV1 deafness, autosomal recessive 1a deafness_autosomal_recessive_1a Deafness, Autosomal Recessive 1a GJB6 DOID:0110475 hypospadias 1, x-linked hypospadias_1_x_linked Hypospadias 1, X-Linked AR parkinson disease 4, autosomal dominant parkinson_disease_4_autosomal_dominant Parkinson Disease 4, Autosomal Dominant SNCA DOID:0060895 surfactant metabolism dysfunction, pulmonary, 5 surfactant_metabolism_dysfunction_pulmonary_5 Surfactant Metabolism Dysfunction, Pulmonary, 5 CSF2RB jawad syndrome jawad_syndrome Jawad Syndrome RBBP8 ventricular septal defect 2 ventricular_septal_defect_2 Ventricular Septal Defect 2 CITED2 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy neurodevelopmental_disorder_with_microcephaly_epilepsy_and_brain_atrophy Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy TRAPPC6B immunodeficiency, common variable, 7 immunodeficiency_common_variable_7 Immunodeficiency, Common Variable, 7 CR2 fanconi anemia, complementation group s fanconi_anemia_complementation_group_s Fanconi Anemia, Complementation Group S BRCA1 immunodeficiency, common variable, 6 immunodeficiency_common_variable_6 Immunodeficiency, Common Variable, 6 CD81 immunodeficiency, common variable, 4 immunodeficiency_common_variable_4 Immunodeficiency, Common Variable, 4 TNFRSF13C deafness, autosomal dominant 69 deafness_autosomal_dominant_69 Deafness, Autosomal Dominant 69 KITLG DOID:0110590 immunodeficiency, common variable, 5 immunodeficiency_common_variable_5 Immunodeficiency, Common Variable, 5 MS4A1 ovarian dysgenesis 3 ovarian_dysgenesis_3 Ovarian Dysgenesis 3 PSMC3IP immunodeficiency, common variable, 3 immunodeficiency_common_variable_3 Immunodeficiency, Common Variable, 3 CD19 lymphedema, hereditary, id lymphedema_hereditary_id Lymphedema, Hereditary, Id VEGFC diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent ABCC8 DOID:9352 cowden syndrome 4 cowden_syndrome_4 Cowden Syndrome 4 KLLN spermatogenic failure 4 spermatogenic_failure_4 Spermatogenic Failure 4 SYCP3 lipase deficiency, combined lipase_deficiency_combined_2 Lipase Deficiency, Combined LMF1 fibrochondrogenesis 2 fibrochondrogenesis_2 Fibrochondrogenesis 2 COL11A2 retinal cone dystrophy 3a retinal_cone_dystrophy_3a Retinal Cone Dystrophy 3a PDE6H cataract 36 cataract_36 Cataract 36 TDRD7 DOID:0110247 cataract 38 cataract_38 Cataract 38 AGK DOID:0110245 amelogenesis imperfecta, type if amelogenesis_imperfecta_type_if Amelogenesis Imperfecta, Type if AMBN DOID:0110065 glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 ERBB2 cerebrooculofacioskeletal syndrome 3 cerebrooculofacioskeletal_syndrome_3 Cerebrooculofacioskeletal Syndrome 3 ERCC5 breast cancer breast_cancer Breast Cancer BRCA1 DOID:3459 pseudoxanthoma elasticum pseudoxanthoma_elasticum Pseudoxanthoma Elasticum XYLT2 DOID:2738 prostate cancer prostate_cancer Prostate Cancer MAD1L1 DOID:10286 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency TMEM126B DOID:0060536 colorectal cancer colorectal_cancer Colorectal Cancer FLCN DOID:9256 erythrocytosis, familial, 1 erythrocytosis_familial_1 Erythrocytosis, Familial, 1 JAK2 DOID:0060652 atrioventricular septal defect 2 atrioventricular_septal_defect_2 Atrioventricular Septal Defect 2 CRELD1 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFV2 DOID:0060536 moyamoya disease 2 moyamoya_disease_2 Moyamoya Disease 2 RNF213 autoimmune disease 6 autoimmune_disease_6 Autoimmune Disease 6 SIAE myelofibrosis myelofibrosis Myelofibrosis SH2B3 DOID:4971 hypertension, essential hypertension_essential Hypertension, Essential PTGIS DOID:10825 pseudoxanthoma elasticum pseudoxanthoma_elasticum Pseudoxanthoma Elasticum XYLT1 DOID:2738 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFA2 DOID:3652 schizophrenia 4 schizophrenia_4 Schizophrenia 4 PRODH DOID:0070080 hirschsprung disease 2 hirschsprung_disease_2 Hirschsprung Disease 2 EDNRB multiple system atrophy 1 multiple_system_atrophy_1 Multiple System Atrophy 1 COQ2 DOID:4752 anhaptoglobinemia anhaptoglobinemia Anhaptoglobinemia HP systemic lupus erythematosus systemic_lupus_erythematosus Systemic Lupus Erythematosus TREX1 DOID:9074 van buchem disease van_buchem_disease Van Buchem Disease SOST DOID:0080036 diabetes mellitus, ketosis-prone diabetes_mellitus_ketosis_prone Diabetes Mellitus, Ketosis-Prone PAX4 DOID:1837 alveolar soft part sarcoma alveolar_soft_part_sarcoma Alveolar Soft Part Sarcoma ASPSCR1 DOID:4239 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome BCS1L DOID:3652 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma PDGFRL DOID:916 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency TIMMDC1 DOID:0060536 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 NR0B2 DOID:9970 colorectal cancer colorectal_cancer Colorectal Cancer DLC1 DOID:9256 endometrial cancer endometrial_cancer Endometrial Cancer PTEN DOID:2871 schizophrenia schizophrenia Schizophrenia RTN4R DOID:5419 colorectal cancer 10 colorectal_cancer_10 Colorectal Cancer 10 POLD1 hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic_hypogonadism_16_with_or_without_anosmia Hypogonadotropic Hypogonadism 16 with or Without Anosmia SEMA3A DOID:0090080 fundus albipunctatus fundus_albipunctatus Fundus Albipunctatus PRPH2 DOID:11105 epilepsy, childhood absence 5 epilepsy_childhood_absence_5 Epilepsy, Childhood Absence 5 GABRB3 thyrotoxic periodic paralysis 2 thyrotoxic_periodic_paralysis_2 Thyrotoxic Periodic Paralysis 2 KCNJ18 epilepsy, childhood absence 6 epilepsy_childhood_absence_6 Epilepsy, Childhood Absence 6 CACNA1H hypogonadotropic hypogonadism 15 with or without anosmia hypogonadotropic_hypogonadism_15_with_or_without_anosmia Hypogonadotropic Hypogonadism 15 with or Without Anosmia HS6ST1 DOID:0090075 aortic aneurysm, familial thoracic 11 aortic_aneurysm_familial_thoracic_11 Aortic Aneurysm, Familial Thoracic 11 FOXE3 melanoma, cutaneous malignant 10 melanoma_cutaneous_malignant_10 Melanoma, Cutaneous Malignant 10 POT1 macular degeneration, age-related, 13 macular_degeneration_age_related_13 Macular Degeneration, Age-Related, 13 CFI DOID:0110025 paraganglioma and gastric stromal sarcoma paraganglioma_and_gastric_stromal_sarcoma Paraganglioma and Gastric Stromal Sarcoma SDHC epilepsy, idiopathic generalized 8 epilepsy_idiopathic_generalized_8_2 Epilepsy, Idiopathic Generalized 8 CASR focal segmental glomerulosclerosis 4 focal_segmental_glomerulosclerosis_4 Focal Segmental Glomerulosclerosis 4 APOL1 sick sinus syndrome 3 sick_sinus_syndrome_3 Sick Sinus Syndrome 3 MYH6 psoriasis 15, pustular psoriasis_15_pustular Psoriasis 15, Pustular AP1S3 macular degeneration, age-related, 15 macular_degeneration_age_related_15 Macular Degeneration, Age-Related, 15 C9 DOID:0110027 melanoma, cutaneous malignant 5 melanoma_cutaneous_malignant_5_2 Melanoma, Cutaneous Malignant 5 MC1R asperger syndrome, x-linked 1 asperger_syndrome_x_linked_1 Asperger Syndrome, X-Linked 1 NLGN3 colorectal cancer 1 colorectal_cancer_1 Colorectal Cancer 1 GALNT12 macular degeneration, age-related, 4 macular_degeneration_age_related_4 Macular Degeneration, Age-Related, 4 CFH DOID:0110017 epilepsy, idiopathic generalized 14 epilepsy_idiopathic_generalized_14 Epilepsy, Idiopathic Generalized 14 SLC12A5 autism x-linked 6 autism_x_linked_6 Autism X-Linked 6 TMLHE autism x-linked 5 autism_x_linked_5_2 Autism X-Linked 5 RPL10 ovalocytosis, southeast asian ovalocytosis_southeast_asian Ovalocytosis, Southeast Asian SLC4A1 hirschsprung disease 3 hirschsprung_disease_3 Hirschsprung Disease 3 GDNF bardet-biedl syndrome 20 bardet_biedl_syndrome_20 Bardet-Biedl Syndrome 20 IFT74 epilepsy, idiopathic generalized 13 epilepsy_idiopathic_generalized_13 Epilepsy, Idiopathic Generalized 13 GABRA1 melanoma, cutaneous malignant 6 melanoma_cutaneous_malignant_6 Melanoma, Cutaneous Malignant 6 XRCC3 microcephaly 11, primary, autosomal recessive microcephaly_11_primary_autosomal_recessive Microcephaly 11, Primary, Autosomal Recessive PHC1 orofacial cleft 6 orofacial_cleft_6 Orofacial Cleft 6 IRF6 alzheimer disease 18 alzheimer_disease_18 Alzheimer Disease 18 ADAM10 DOID:0110050 autism x-linked 1 autism_x_linked_1 Autism X-Linked 1 NLGN3 myopathy, centronuclear, 1 myopathy_centronuclear_1 Myopathy, Centronuclear, 1 MTMR14 yao syndrome yao_syndrome Yao Syndrome NOD2 hirschsprung disease 4 hirschsprung_disease_4 Hirschsprung Disease 4 EDN3 craniosynostosis 5 craniosynostosis_5 Craniosynostosis 5 ALX4 vitiligo-associated multiple autoimmune disease susceptibility 1 vitiligo_associated_multiple_autoimmune_disease_susceptibility_1 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 NLRP1 DOID:12306 acne inversa, familial, 2, with or without dowling-degos disease acne_inversa_familial_2_with_or_without_dowling_degos_disease Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease PSENEN aspartate aminotransferase, serum level of, quantitative trait locus 1 aspartate_aminotransferase_serum_level_of_quantitative_trait_locus_1 Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1 GOT1 colorectal cancer, hereditary nonpolyposis, type 8 colorectal_cancer_hereditary_nonpolyposis_type_8 Colorectal Cancer, Hereditary Nonpolyposis, Type 8 EPCAM complement component 8 deficiency, type i complement_component_8_deficiency_type_i Complement Component 8 Deficiency, Type I C8A DOID:0060301 complement component 8 deficiency, type ii complement_component_8_deficiency_type_ii Complement Component 8 Deficiency, Type Ii C8B DOID:0060302 epiphyseal dysplasia, multiple, 2 epiphyseal_dysplasia_multiple_2 Epiphyseal Dysplasia, Multiple, 2 COL9A2 hemolytic uremic syndrome, atypical 1 hemolytic_uremic_syndrome_atypical_1 Hemolytic Uremic Syndrome, Atypical 1 CFHR3 DOID:0080301 hemolytic uremic syndrome, atypical 1 hemolytic_uremic_syndrome_atypical_1 Hemolytic Uremic Syndrome, Atypical 1 CFHR1 DOID:0080301 invasive pneumococcal disease, recurrent isolated, 1 invasive_pneumococcal_disease_recurrent_isolated_1 Invasive Pneumococcal Disease, Recurrent Isolated, 1 IRAK4 keratosis palmoplantaris striata iii keratosis_palmoplantaris_striata_iii Keratosis Palmoplantaris Striata Iii KRT1 maturity-onset diabetes of the young, type 8, with exocrine dysfunction maturity_onset_diabetes_of_the_young_type_8_with_exocrine_dysfunction_2 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction CEL DOID:0111105 mental retardation, fra12a type mental_retardation_fra12a_type Mental Retardation, Fra12a Type DIP2B methemoglobinemia and ambiguous genitalia methemoglobinemia_and_ambiguous_genitalia Methemoglobinemia and Ambiguous Genitalia CYB5A muscular dystrophy, limb-girdle, type 2a muscular_dystrophy_limb_girdle_type_2a Muscular Dystrophy, Limb-Girdle, Type 2a TOR1AIP1 DOID:0110275 nephrotic syndrome, type 6 nephrotic_syndrome_type_6 Nephrotic Syndrome, Type 6 PTPRO neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_recessive Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive GRIN1 neuropathy, hereditary sensory and autonomic, type iib neuropathy_hereditary_sensory_and_autonomic_type_iib Neuropathy, Hereditary Sensory and Autonomic, Type Iib RETREG1 DOID:0070150 night blindness, congenital stationary, type 1d night_blindness_congenital_stationary_type_1d Night Blindness, Congenital Stationary, Type 1d SLC24A1 DOID:0110868 osteogenesis imperfecta, type xiv osteogenesis_imperfecta_type_xiv Osteogenesis Imperfecta, Type Xiv TMEM38B DOID:0110343 periventricular heterotopia with microcephaly, autosomal recessive periventricular_heterotopia_with_microcephaly_autosomal_recessive Periventricular Heterotopia with Microcephaly, Autosomal Recessive ARFGEF2 polycystic liver disease 2 with or without kidney cysts polycystic_liver_disease_2_with_or_without_kidney_cysts Polycystic Liver Disease 2 with or Without Kidney Cysts SEC63 polyposis syndrome, hereditary mixed, 2 polyposis_syndrome_hereditary_mixed_2 Polyposis Syndrome, Hereditary Mixed, 2 BMPR1A short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies short_stature_facial_dysmorphism_and_skeletal_anomalies_with_or_without_cardiac_anomalies Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies BMP2 short-rib thoracic dysplasia 19 with or without polydactyly short_rib_thoracic_dysplasia_19_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly IFT81 DOID:0080295 stickler syndrome, type iv stickler_syndrome_type_iv Stickler Syndrome, Type Iv COL9A1 three m syndrome 3 three_m_syndrome_3 Three M Syndrome 3 CCDC8 waardenburg syndrome, type 2d waardenburg_syndrome_type_2d Waardenburg Syndrome, Type 2d SNAI2 DOID:0110952 wilms tumor 2 wilms_tumor_2 Wilms Tumor 2 H19 hemorrhage, intracerebral hemorrhage_intracerebral Hemorrhage, Intracerebral COL4A1 eosinophil peroxidase deficiency eosinophil_peroxidase_deficiency Eosinophil Peroxidase Deficiency EPX leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid BCR DOID:8552 glioma susceptibility 9 glioma_susceptibility_9 Glioma Susceptibility 9 POT1 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 ARL6 DOID:0110123 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome BBS1 DOID:1935 erythrocyte amp deaminase deficiency erythrocyte_amp_deaminase_deficiency Erythrocyte Amp Deaminase Deficiency AMPD3 ovarian cancer ovarian_cancer Ovarian Cancer CTNNB1 DOID:2394 rhabdomyosarcoma 2 rhabdomyosarcoma_2 Rhabdomyosarcoma 2 PAX3 DOID:4051 rhabdomyosarcoma 2 rhabdomyosarcoma_2 Rhabdomyosarcoma 2 FOXO1 DOID:4051 spinocerebellar ataxia, x-linked 1 spinocerebellar_ataxia_x_linked_1 Spinocerebellar Ataxia, X-Linked 1 ATP2B3 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor SDHB DOID:9253 breast cancer breast_cancer Breast Cancer AKT1 DOID:3459 rhabdomyosarcoma 2 rhabdomyosarcoma_2 Rhabdomyosarcoma 2 PAX7 DOID:4051 hyperthyroxinemia, familial dysalbuminemic hyperthyroxinemia_familial_dysalbuminemic Hyperthyroxinemia, Familial Dysalbuminemic ALB gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor SDHC DOID:9253 neural tube defects neural_tube_defects Neural Tube Defects VANGL2 DOID:0080074 medulloblastoma medulloblastoma Medulloblastoma CTNNB1 DOID:0050902 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia NUMA1 DOID:0060318 premature ovarian failure 2b premature_ovarian_failure_2b Premature Ovarian Failure 2b POF1B ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ectodermal_dysplasia_12_hypohidrotic_hair_tooth_nail_type Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type KDF1 neural tube defects, folate-sensitive neural_tube_defects_folate_sensitive Neural Tube Defects, Folate-Sensitive MTHFD1 advanced sleep phase syndrome, familial, 3 advanced_sleep_phase_syndrome_familial_3 Advanced Sleep Phase Syndrome, Familial, 3 PER3 DOID:0110013 bone mineral density quantitative trait locus 1 bone_mineral_density_quantitative_trait_locus_1 Bone Mineral Density Quantitative Trait Locus 1 LRP5 ectodermal dysplasia 7, hair/nail type ectodermal_dysplasia_7_hair_nail_type Ectodermal Dysplasia 7, Hair/nail Type KRT74 macular degeneration, age-related, 9 macular_degeneration_age_related_9 Macular Degeneration, Age-Related, 9 C3 DOID:0110021 spinal muscular atrophy with congenital bone fractures 2 spinal_muscular_atrophy_with_congenital_bone_fractures_2 Spinal Muscular Atrophy with Congenital Bone Fractures 2 ASCC1 long qt syndrome 11 long_qt_syndrome_11 Long Qt Syndrome 11 AKAP9 DOID:0110652 mitochondrial dna depletion syndrome 15 mitochondrial_dna_depletion_syndrome_15 Mitochondrial Dna Depletion Syndrome 15 TFAM wolfram syndrome wolfram_syndrome Wolfram Syndrome WFS1 DOID:10632 growth restriction, severe, with distinctive facies growth_restriction_severe_with_distinctive_facies Growth Restriction, Severe, with Distinctive Facies IGF2 specific language impairment 5 specific_language_impairment_5 Specific Language Impairment 5 TM4SF20 spinocerebellar ataxia, autosomal recessive 13 spinocerebellar_ataxia_autosomal_recessive_13 Spinocerebellar Ataxia, Autosomal Recessive 13 GRM1 DOID:0080062 chorea, childhood-onset, with psychomotor retardation chorea_childhood_onset_with_psychomotor_retardation Chorea, Childhood-Onset, with Psychomotor Retardation GPR88 inflammatory bowel disease 10 inflammatory_bowel_disease_10 Inflammatory Bowel Disease 10 ATG16L1 DOID:0110885 townes-brocks syndrome 2 townes_brocks_syndrome_2 Townes-Brocks Syndrome 2 DACT1 chilblain lupus 2 chilblain_lupus_2 Chilblain Lupus 2 SAMHD1 deafness, congenital heart defects, and posterior embryotoxon deafness_congenital_heart_defects_and_posterior_embryotoxon Deafness, Congenital Heart Defects, and Posterior Embryotoxon JAG1 spinocerebellar ataxia 8 spinocerebellar_ataxia_8 Spinocerebellar Ataxia 8 ATXN8 DOID:0050959 premature ovarian failure 12 premature_ovarian_failure_12 Premature Ovarian Failure 12 SYCE1 cardiomyopathy, familial hypertrophic, 19 cardiomyopathy_familial_hypertrophic_19_2 Cardiomyopathy, Familial Hypertrophic, 19 CALR3 DOID:0110325 uncombable hair syndrome 3 uncombable_hair_syndrome_3 Uncombable Hair Syndrome 3 TCHH mental retardation, autosomal recessive 45 mental_retardation_autosomal_recessive_45 Mental Retardation, Autosomal Recessive 45 FBXO31 spermatogenic failure 21 spermatogenic_failure_21 Spermatogenic Failure 21 BRDT uncombable hair syndrome 2 uncombable_hair_syndrome_2 Uncombable Hair Syndrome 2 TGM3 thrombocytopenia, anemia, and myelofibrosis thrombocytopenia_anemia_and_myelofibrosis Thrombocytopenia, Anemia, and Myelofibrosis MPIG6B spermatogenic failure 14 spermatogenic_failure_14 Spermatogenic Failure 14 ZMYND15 spermatogenic failure 15 spermatogenic_failure_15 Spermatogenic Failure 15 SYCE1 spermatogenic failure 13 spermatogenic_failure_13 Spermatogenic Failure 13 TAF4B partington x-linked mental retardation syndrome partington_x_linked_mental_retardation_syndrome Partington X-Linked Mental Retardation Syndrome ARX DOID:14744 sotos syndrome 3 sotos_syndrome_3 Sotos Syndrome 3 APC2 shaheen syndrome shaheen_syndrome Shaheen Syndrome COG6 cerebellar atrophy, developmental delay, and seizures cerebellar_atrophy_developmental_delay_and_seizures Cerebellar Atrophy, Developmental Delay, and Seizures KCNMA1 liebenberg syndrome liebenberg_syndrome Liebenberg Syndrome PITX1 psoriasis 13 psoriasis_13 Psoriasis 13 TRAF3IP2 schizophrenia 19 schizophrenia_19 Schizophrenia 19 RBM12 DOID:0080281 immunodeficiency 53 immunodeficiency_53 Immunodeficiency 53 RELB immunodeficiency 45 immunodeficiency_45 Immunodeficiency 45 IFNAR2 thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 NKX2-1 DOID:3969 encephalopathy, acute, infection-induced 2 encephalopathy_acute_infection_induced_2 Encephalopathy, Acute, Infection-Induced 2 TLR3 encephalopathy, acute, infection-induced 6 encephalopathy_acute_infection_induced_6 Encephalopathy, Acute, Infection-Induced 6 TICAM1 encephalopathy, acute, infection-induced 7 encephalopathy_acute_infection_induced_7 Encephalopathy, Acute, Infection-Induced 7 IRF3 gaucher disease, type iiic gaucher_disease_type_iiic Gaucher Disease, Type Iiic GBA parkinson disease 11, autosomal dominant parkinson_disease_11_autosomal_dominant Parkinson Disease 11, Autosomal Dominant GIGYF2 parkinson disease 13, autosomal dominant parkinson_disease_13_autosomal_dominant Parkinson Disease 13, Autosomal Dominant HTRA2 parkinson disease 18, autosomal dominant parkinson_disease_18_autosomal_dominant Parkinson Disease 18, Autosomal Dominant EIF4G1 parkinson disease 5, autosomal dominant parkinson_disease_5_autosomal_dominant Parkinson Disease 5, Autosomal Dominant UCHL1 spondylometaphyseal dysplasia, corner fracture type spondylometaphyseal_dysplasia_corner_fracture_type_2 Spondylometaphyseal Dysplasia, Corner Fracture Type FN1 thyroid carcinoma, familial medullary thyroid_carcinoma_familial_medullary Thyroid Carcinoma, Familial Medullary NTRK1 DOID:3973 sc phocomelia syndrome sc_phocomelia_syndrome Sc Phocomelia Syndrome ESCO2 DOID:0050536 watson syndrome watson_syndrome Watson Syndrome NF1 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot ZFPM2 DOID:6419 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent HNF4A DOID:9352 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related myopathy_myofibrillar_fatal_infantile_hypertonic_alpha_b_crystallin_related Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related CRYAB retinal arterial macroaneurysm with supravalvular pulmonic stenosis retinal_arterial_macroaneurysm_with_supravalvular_pulmonic_stenosis Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis IGFBP7 fanconi anemia, complementation group w fanconi_anemia_complementation_group_w Fanconi Anemia, Complementation Group W RFWD3 neurodevelopmental disorder with midbrain and hindbrain malformations neurodevelopmental_disorder_with_midbrain_and_hindbrain_malformations Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations ARHGEF2 spinocerebellar ataxia, autosomal recessive 21 spinocerebellar_ataxia_autosomal_recessive_21 Spinocerebellar Ataxia, Autosomal Recessive 21 SCYL1 DOID:0111155 myeloproliferative disorder, chronic, with eosinophilia myeloproliferative_disorder_chronic_with_eosinophilia Myeloproliferative Disorder, Chronic, with Eosinophilia PDGFRB glioma susceptibility 2 glioma_susceptibility_2 Glioma Susceptibility 2 PTEN spermatogenic failure 23 spermatogenic_failure_23 Spermatogenic Failure 23 TEX14 myopathy, congenital, with neuropathy and deafness myopathy_congenital_with_neuropathy_and_deafness Myopathy, Congenital, with Neuropathy and Deafness SPTBN4 complement component 4, partial deficiency of complement_component_4_partial_deficiency_of Complement Component 4, Partial Deficiency of SERPING1 epileptic encephalopathy, early infantile, 57 epileptic_encephalopathy_early_infantile_57 Epileptic Encephalopathy, Early Infantile, 57 KCNT2 meckel syndrome 13 meckel_syndrome_13 Meckel Syndrome 13 TMEM107 DOID:0080276 orofaciodigital syndrome xv orofaciodigital_syndrome_xv Orofaciodigital Syndrome Xv KIAA0753 polydactyly, postaxial, type a7 polydactyly_postaxial_type_a7 Polydactyly, Postaxial, Type A7 IQCE retinitis pigmentosa 81 retinitis_pigmentosa_81 Retinitis Pigmentosa 81 IFT43 DOID:0080292 spermatogenic failure 20 spermatogenic_failure_20 Spermatogenic Failure 20 CFAP44 spinocerebellar ataxia 46 spinocerebellar_ataxia_46 Spinocerebellar Ataxia 46 PLD3 DOID:0080288 prostate cancer, hereditary, 12 prostate_cancer_hereditary_12 Prostate Cancer, Hereditary, 12 EHBP1 testicular germ cell tumor testicular_germ_cell_tumor Testicular Germ Cell Tumor BCL10 deafness, autosomal recessive 26 deafness_autosomal_recessive_26 Deafness, Autosomal Recessive 26 GAB1 DOID:0110484 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome BBS4 DOID:1935 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFS8 DOID:3652 esophageal cancer esophageal_cancer Esophageal Cancer WWOX DOID:5041 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome SDHA DOID:3652 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita DKC1 DOID:2729 colorectal cancer colorectal_cancer Colorectal Cancer MLH3 DOID:9256 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 HRAS DOID:3962 colorectal cancer colorectal_cancer Colorectal Cancer BAX DOID:9256 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary RNF139 DOID:4450 ventricular tachycardia, catecholaminergic polymorphic, 4 ventricular_tachycardia_catecholaminergic_polymorphic_4 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 CALM1 DOID:0060678 colorectal cancer colorectal_cancer Colorectal Cancer MCC DOID:9256 hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic_hypogonadism_9_with_or_without_anosmia Hypogonadotropic Hypogonadism 9 with or Without Anosmia NSMF DOID:0090085 vertebral, cardiac, renal, and limb defects syndrome 2 vertebral_cardiac_renal_and_limb_defects_syndrome_2 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 KYNU cardiomyopathy, dilated, 1i cardiomyopathy_dilated_1i Cardiomyopathy, Dilated, 1i DES DOID:0110431 spermatogenic failure 10 spermatogenic_failure_10 Spermatogenic Failure 10 Sep-12 alzheimer disease 2 alzheimer_disease_2_2 Alzheimer Disease 2 APOE DOID:0110035 rahman syndrome rahman_syndrome Rahman Syndrome HIST1H1E renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary FLCN DOID:4450 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid KIT DOID:9119 albinism, ocular, with sensorineural deafness albinism_ocular_with_sensorineural_deafness Albinism, Ocular, with Sensorineural Deafness MITF amelogenesis imperfecta, type iiib amelogenesis_imperfecta_type_iiib Amelogenesis Imperfecta, Type Iiib AMTN DOID:0080243 arthrogryposis multiplex congenita, neurogenic type arthrogryposis_multiplex_congenita_neurogenic_type_2 Arthrogryposis Multiplex Congenita, Neurogenic Type ERGIC1 DOID:0090124 diamond-blackfan anemia-like diamond_blackfan_anemia_like Diamond-Blackfan Anemia-Like EPO encephalopathy, acute, infection-induced 5 encephalopathy_acute_infection_induced_5 Encephalopathy, Acute, Infection-Induced 5 TRAF3 epileptic encephalopathy, early infantile, 61 epileptic_encephalopathy_early_infantile_61 Epileptic Encephalopathy, Early Infantile, 61 ADAM22 hyperostosis cranialis interna hyperostosis_cranialis_interna Hyperostosis Cranialis Interna SLC39A14 immunodeficiency, common variable, 14 immunodeficiency_common_variable_14 Immunodeficiency, Common Variable, 14 IRF2BP2 macular dystrophy, retinal, 1, north carolina type macular_dystrophy_retinal_1_north_carolina_type Macular Dystrophy, Retinal, 1, North Carolina Type DHS6S1 marsili syndrome marsili_syndrome Marsili Syndrome ZFHX2 mental retardation, x-linked 100 mental_retardation_x_linked_100 Mental Retardation, X-Linked 100 KIF4A mental retardation, x-linked 107 mental_retardation_x_linked_107 Mental Retardation, X-Linked 107 CXorf56 microcephaly 19, primary, autosomal recessive microcephaly_19_primary_autosomal_recessive Microcephaly 19, Primary, Autosomal Recessive COPB2 microcephaly 21, primary, autosomal recessive microcephaly_21_primary_autosomal_recessive Microcephaly 21, Primary, Autosomal Recessive NCAPD2 microcephaly 23, primary, autosomal recessive microcephaly_23_primary_autosomal_recessive Microcephaly 23, Primary, Autosomal Recessive NCAPH mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency FASTKD2 DOID:3762 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COA7 DOID:3762 neurodegeneration with brain iron accumulation 7 neurodegeneration_with_brain_iron_accumulation_7 Neurodegeneration with Brain Iron Accumulation 7 REPS1 neurodegeneration with brain iron accumulation 8 neurodegeneration_with_brain_iron_accumulation_8 Neurodegeneration with Brain Iron Accumulation 8 CRAT neurodevelopmental disorder with brain, liver, and lung abnormalities neurodevelopmental_disorder_with_brain_liver_and_lung_abnormalities Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities FARSB neuronopathy, distal hereditary motor, type iic neuronopathy_distal_hereditary_motor_type_iic Neuronopathy, Distal Hereditary Motor, Type Iic HSPB3 orofaciodigital syndrome xvii orofaciodigital_syndrome_xvii Orofaciodigital Syndrome Xvii INTU DOID:0080289 orofaciodigital syndrome xviii orofaciodigital_syndrome_xviii Orofaciodigital Syndrome Xviii IFT57 renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated TFE3 short-rib thoracic dysplasia 20 with polydactyly short_rib_thoracic_dysplasia_20_with_polydactyly Short-Rib Thoracic Dysplasia 20 with Polydactyly INTU spermatogenic failure 26 spermatogenic_failure_26 Spermatogenic Failure 26 TSGA10 spermatogenic failure 27 spermatogenic_failure_27 Spermatogenic Failure 27 AK7 spondyloepimetaphyseal dysplasia, di rocco type spondyloepimetaphyseal_dysplasia_di_rocco_type Spondyloepimetaphyseal Dysplasia, Di Rocco Type UFSP2 synpolydactyly 2 synpolydactyly_2 Synpolydactyly 2 FBLN1 uruguay faciocardiomusculoskeletal syndrome uruguay_faciocardiomusculoskeletal_syndrome Uruguay Faciocardiomusculoskeletal Syndrome FHL1 myotonia congenita myotonia_congenita Myotonia Congenita CLCN1 DOID:2106 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease POMGNT1 pentosuria pentosuria Pentosuria DCXR ventricular fibrillation, paroxysmal familial, 1 ventricular_fibrillation_paroxysmal_familial_1 Ventricular Fibrillation, Paroxysmal Familial, 1 SCN5A deafness, autosomal dominant 25 deafness_autosomal_dominant_25 Deafness, Autosomal Dominant 25 SLC17A8 DOID:0110555 pituitary adenoma 3, multiple types pituitary_adenoma_3_multiple_types Pituitary Adenoma 3, Multiple Types GNAS brain malformations with or without urinary tract defects brain_malformations_with_or_without_urinary_tract_defects Brain Malformations with or Without Urinary Tract Defects NFIA pulmonary venoocclusive disease 1, autosomal dominant pulmonary_venoocclusive_disease_1_autosomal_dominant Pulmonary Venoocclusive Disease 1, Autosomal Dominant BMPR2 alkuraya-kucinskas syndrome alkuraya_kucinskas_syndrome Alkuraya-Kucinskas Syndrome KIAA1109 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies BPTF brittle cornea syndrome 1 brittle_cornea_syndrome_1 Brittle Cornea Syndrome 1 ZNF469 pancreatic agenesis 1 pancreatic_agenesis_1 Pancreatic Agenesis 1 PDX1 deafness, autosomal recessive 57 deafness_autosomal_recessive_57 Deafness, Autosomal Recessive 57 PDZD7 immunodeficiency, developmental delay, and hypohomocysteinemia immunodeficiency_developmental_delay_and_hypohomocysteinemia Immunodeficiency, Developmental Delay, and Hypohomocysteinemia NFE2L2 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome MKKS DOID:1935 linear skin defects with multiple congenital anomalies 3 linear_skin_defects_with_multiple_congenital_anomalies_3 Linear Skin Defects with Multiple Congenital Anomalies 3 NDUFB11 thrombophilia due to thrombin defect thrombophilia_due_to_thrombin_defect Thrombophilia Due to Thrombin Defect F2 autoinflammation with arthritis and dyskeratosis autoinflammation_with_arthritis_and_dyskeratosis Autoinflammation with Arthritis and Dyskeratosis NLRP1 cone-rod dystrophy 5 cone_rod_dystrophy_5 Cone-Rod Dystrophy 5 PITPNM3 DOID:0111010 long qt syndrome 5 long_qt_syndrome_5 Long Qt Syndrome 5 KCNE1 DOID:0110647 thyroid dyshormonogenesis 5 thyroid_dyshormonogenesis_5 Thyroid Dyshormonogenesis 5 DUOXA2 frontometaphyseal dysplasia frontometaphyseal_dysplasia Frontometaphyseal Dysplasia FLNA long qt syndrome 6 long_qt_syndrome_6 Long Qt Syndrome 6 KCNE2 DOID:0110648 microcephaly-micromelia syndrome microcephaly_micromelia_syndrome Microcephaly-Micromelia Syndrome DONSON sedoheptulokinase deficiency sedoheptulokinase_deficiency Sedoheptulokinase Deficiency SHPK complement component 5 deficiency complement_component_5_deficiency Complement Component 5 Deficiency C5 DOID:8158 spastic paraplegia 33, autosomal dominant spastic_paraplegia_33_autosomal_dominant Spastic Paraplegia 33, Autosomal Dominant ZFYVE27 DOID:0110784 basan syndrome basan_syndrome Basan Syndrome SMARCAD1 chitayat syndrome chitayat_syndrome Chitayat Syndrome ERF hereditary hemorrhagic telangiectasia hereditary_hemorrhagic_telangiectasia Hereditary Hemorrhagic Telangiectasia ENG DOID:1270 long qt syndrome 13 long_qt_syndrome_13 Long Qt Syndrome 13 KCNJ5 DOID:0110654 rhabdomyosarcoma, embryonal, 1 rhabdomyosarcoma_embryonal_1 Rhabdomyosarcoma, Embryonal, 1 SLC22A18 esophageal cancer esophageal_cancer Esophageal Cancer RNF6 DOID:5041 hyperekplexia hyperekplexia Hyperekplexia GLRA1 DOID:0060695 emery-dreifuss muscular dystrophy 5, autosomal dominant emery_dreifuss_muscular_dystrophy_5_autosomal_dominant Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant SYNE2 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies global_developmental_delay_absent_or_hypoplastic_corpus_callosum_and_dysmorphic_facies Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies ZNF148 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold intellectual_developmental_disorder_with_gastrointestinal_difficulties_and_high_pain_threshold Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold PPM1D complement component 2 deficiency complement_component_2_deficiency Complement Component 2 Deficiency C2 DOID:0060295 hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic_hypogonadism_18_with_or_without_anosmia Hypogonadotropic Hypogonadism 18 with or Without Anosmia IL17RD DOID:0090076 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay short_stature_rhizomelic_with_microcephaly_micrognathia_and_developmental_delay Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay ARCN1 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease platelet_abnormalities_with_eosinophilia_and_immune_mediated_inflammatory_disease Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease ARPC1B renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary VHL DOID:4450 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 deafness_autosomal_dominant_39_with_dentinogenesis_imperfecta_1 Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 DSPP nephrolithiasis/osteoporosis, hypophosphatemic, 2 nephrolithiasis_osteoporosis_hypophosphatemic_2 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 SLC9A3R1 DOID:0080078 epileptic encephalopathy, early infantile, 49 epileptic_encephalopathy_early_infantile_49 Epileptic Encephalopathy, Early Infantile, 49 DENND5A retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CNGA1 DOID:10584 gaze palsy, familial horizontal, with progressive scoliosis, 2 gaze_palsy_familial_horizontal_with_progressive_scoliosis_2 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 DCC epileptic encephalopathy, infantile or early childhood, 1 epileptic_encephalopathy_infantile_or_early_childhood_1 Epileptic Encephalopathy, Infantile or Early Childhood, 1 PPP3CA heterotaxy, visceral, 7, autosomal heterotaxy_visceral_7_autosomal Heterotaxy, Visceral, 7, Autosomal MMP21 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 PPARG DOID:9970 epileptic encephalopathy, early infantile, 29 epileptic_encephalopathy_early_infantile_29 Epileptic Encephalopathy, Early Infantile, 29 AARS klippel-feil syndrome 3, autosomal dominant klippel_feil_syndrome_3_autosomal_dominant Klippel-Feil Syndrome 3, Autosomal Dominant GDF3 patent ductus arteriosus 2 patent_ductus_arteriosus_2 Patent Ductus Arteriosus 2 TFAP2B 46,xy sex reversal 7 46xy_sex_reversal_7_2 46,xy Sex Reversal 7 DHH intellectual developmental disorder with cardiac arrhythmia intellectual_developmental_disorder_with_cardiac_arrhythmia Intellectual Developmental Disorder with Cardiac Arrhythmia GNB5 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy spastic_ataxia_8_autosomal_recessive_with_hypomyelinating_leukodystrophy Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy NKX6-2 mental retardation, autosomal recessive 57 mental_retardation_autosomal_recessive_57 Mental Retardation, Autosomal Recessive 57 MBOAT7 duane retraction syndrome 3 with or without deafness duane_retraction_syndrome_3_with_or_without_deafness Duane Retraction Syndrome 3 with or Without Deafness MAFB shashi-pena syndrome shashi_pena_syndrome Shashi-Pena Syndrome ASXL2 microcephaly, seizures, spasticity, and brain calcifications microcephaly_seizures_spasticity_and_brain_calcifications Microcephaly, Seizures, Spasticity, and Brain Calcifications PCDH12 mosaic variegated aneuploidy syndrome 3 mosaic_variegated_aneuploidy_syndrome_3 Mosaic Variegated Aneuploidy Syndrome 3 TRIP13 vertebral, cardiac, renal, and limb defects syndrome 1 vertebral_cardiac_renal_and_limb_defects_syndrome_1 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 HAAO myopathy, centronuclear, 3 myopathy_centronuclear_3 Myopathy, Centronuclear, 3 MYF6 skraban-deardorff syndrome skraban_deardorff_syndrome Skraban-Deardorff Syndrome WDR26 long qt syndrome 12 long_qt_syndrome_12 Long Qt Syndrome 12 SNTA1 DOID:0110653 hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic_hypogonadism_22_with_or_without_anosmia_2 Hypogonadotropic Hypogonadism 22 with or Without Anosmia FEZF1 DOID:0090081 sacral defect with anterior meningocele sacral_defect_with_anterior_meningocele Sacral Defect with Anterior Meningocele VANGL1 ichthyosis, congenital, autosomal recessive 14 ichthyosis_congenital_autosomal_recessive_14 Ichthyosis, Congenital, Autosomal Recessive 14 SULT2B1 DOID:0080258 macular degeneration, early-onset macular_degeneration_early_onset Macular Degeneration, Early-Onset FBN2 atrial fibrillation, familial, 9 atrial_fibrillation_familial_9 Atrial Fibrillation, Familial, 9 KCNJ2 multiple mitochondrial dysfunctions syndrome 5 multiple_mitochondrial_dysfunctions_syndrome_5 Multiple Mitochondrial Dysfunctions Syndrome 5 ISCA1 DOID:0080274 atrioventricular septal defect 3 atrioventricular_septal_defect_3 Atrioventricular Septal Defect 3 GJA1 atrial fibrillation, familial, 4 atrial_fibrillation_familial_4 Atrial Fibrillation, Familial, 4 KCNE2 brugada syndrome 9 brugada_syndrome_9 Brugada Syndrome 9 KCND3 DOID:0110226 hemangioma, capillary infantile hemangioma_capillary_infantile Hemangioma, Capillary Infantile FLT4 mental retardation, autosomal dominant 45 mental_retardation_autosomal_dominant_45 Mental Retardation, Autosomal Dominant 45 CIC DOID:0080236 joubert syndrome 31 joubert_syndrome_31 Joubert Syndrome 31 CEP120 DOID:0080277 deafness, autosomal dominant 2b deafness_autosomal_dominant_2b Deafness, Autosomal Dominant 2b GJB3 DOID:0110559 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 GJA5 al kaissi syndrome al_kaissi_syndrome Al Kaissi Syndrome CDK10 mental retardation, autosomal recessive 59 mental_retardation_autosomal_recessive_59 Mental Retardation, Autosomal Recessive 59 IMPA1 mental retardation, autosomal recessive 54 mental_retardation_autosomal_recessive_54 Mental Retardation, Autosomal Recessive 54 TNIK stankiewicz-isidor syndrome stankiewicz_isidor_syndrome Stankiewicz-Isidor Syndrome PSMD12 cardiomyopathy, dilated, 1u cardiomyopathy_dilated_1u Cardiomyopathy, Dilated, 1u PSEN1 DOID:0110455 stargardt disease 1 stargardt_disease_1_2 Stargardt Disease 1 CNGB3 craniometaphyseal dysplasia, autosomal recessive craniometaphyseal_dysplasia_autosomal_recessive Craniometaphyseal Dysplasia, Autosomal Recessive GJA1 cardiomyopathy, familial hypertrophic, 15 cardiomyopathy_familial_hypertrophic_15 Cardiomyopathy, Familial Hypertrophic, 15 VCL DOID:0110321 retinitis pigmentosa 48 retinitis_pigmentosa_48_2 Retinitis Pigmentosa 48 GUCA1B DOID:0110382 brugada syndrome 2 brugada_syndrome_2 Brugada Syndrome 2 GPD1L DOID:0110219 cardiomyopathy, dilated, 1z cardiomyopathy_dilated_1z Cardiomyopathy, Dilated, 1z TNNC1 DOID:0110434 agammaglobulinemia 8, autosomal dominant agammaglobulinemia_8_autosomal_dominant Agammaglobulinemia 8, Autosomal Dominant TCF3 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome ARL6 DOID:1935 kleefstra syndrome 2 kleefstra_syndrome_2 Kleefstra Syndrome 2 KMT2C seckel syndrome 10 seckel_syndrome_10 Seckel Syndrome 10 NSMCE2 DOID:0070008 fraser syndrome 3 fraser_syndrome_3 Fraser Syndrome 3 GRIP1 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations TBX1 thrombocythemia 1 thrombocythemia_1 Thrombocythemia 1 THPO trigonocephaly 1 trigonocephaly_1 Trigonocephaly 1 FGFR1 myosin storage myopathy myosin_storage_myopathy Myosin Storage Myopathy MYH7 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid NPM1 DOID:9119 bare lymphocyte syndrome, type i bare_lymphocyte_syndrome_type_i Bare Lymphocyte Syndrome, Type I TAPBP DOID:0060009 bare lymphocyte syndrome, type i bare_lymphocyte_syndrome_type_i Bare Lymphocyte Syndrome, Type I TAP1 DOID:0060009 deafness, autosomal dominant 51 deafness_autosomal_dominant_51 Deafness, Autosomal Dominant 51 TJP2 DOID:0110577 hyperlipidemia, familial combined hyperlipidemia_familial_combined Hyperlipidemia, Familial Combined LPL DOID:13809 acroleukopathy, symmetric acroleukopathy_symmetric Acroleukopathy, Symmetric AIP mental retardation, autosomal dominant 54 mental_retardation_autosomal_dominant_54 Mental Retardation, Autosomal Dominant 54 CAMK2B DOID:0080230 muscular dystrophy-dystroglycanopathy , type a, 13 muscular_dystrophy_dystroglycanopathy_type_a_13 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 B4GAT1 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures neurodevelopmental_disorder_with_spastic_quadriplegia_and_brain_abnormalities_with_or_without_seizures Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures WDR45B neuropathy, hereditary sensory, type iic neuropathy_hereditary_sensory_type_iic Neuropathy, Hereditary Sensory, Type Iic KIF1A DOID:0070147 schimmelpenning-feuerstein-mims syndrome schimmelpenning_feuerstein_mims_syndrome Schimmelpenning-Feuerstein-Mims Syndrome NRAS usher syndrome, type iiib usher_syndrome_type_iiib Usher Syndrome, Type Iiib HARS DOID:0110842 inflammatory bowel disease 28, autosomal recessive inflammatory_bowel_disease_28_autosomal_recessive Inflammatory Bowel Disease 28, Autosomal Recessive IL10RA cardiac arrhythmia, ankyrin-b-related cardiac_arrhythmia_ankyrin_b_related Cardiac Arrhythmia, Ankyrin-B-Related ANK2 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay congenital_anomalies_of_kidney_and_urinary_tract_syndrome_with_or_without_hearing_loss_abnormal_ears_or_developmental_delay Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay PBX1 neurodevelopmental disorder with severe motor impairment and absent language neurodevelopmental_disorder_with_severe_motor_impairment_and_absent_language Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language DHX30 polycystic liver disease 4 with or without kidney cysts polycystic_liver_disease_4_with_or_without_kidney_cysts Polycystic Liver Disease 4 with or Without Kidney Cysts LRP5 polycystic liver disease 3 with or without kidney cysts polycystic_liver_disease_3_with_or_without_kidney_cysts Polycystic Liver Disease 3 with or Without Kidney Cysts ALG8 exudative vitreoretinopathy 4 exudative_vitreoretinopathy_4 Exudative Vitreoretinopathy 4 LRP5 leukoencephalopathy, brain calcifications, and cysts leukoencephalopathy_brain_calcifications_and_cysts Leukoencephalopathy, Brain Calcifications, and Cysts SNORD118 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia combined_immunodeficiency_and_megaloblastic_anemia_with_or_without_hyperhomocysteinemia Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia MTHFD1 glycosylphosphatidylinositol biosynthesis defect 15 glycosylphosphatidylinositol_biosynthesis_defect_15 Glycosylphosphatidylinositol Biosynthesis Defect 15 GPAA1 mental retardation, x-linked, syndromic, houge type mental_retardation_x_linked_syndromic_houge_type Mental Retardation, X-Linked, Syndromic, Houge Type CNKSR2 amyotrophic lateral sclerosis 5, juvenile amyotrophic_lateral_sclerosis_5_juvenile Amyotrophic Lateral Sclerosis 5, Juvenile SPG11 joint laxity, short stature, and myopia joint_laxity_short_stature_and_myopia Joint Laxity, Short Stature, and Myopia GZF1 mental retardation, x-linked 103 mental_retardation_x_linked_103 Mental Retardation, X-Linked 103 KLHL15 retinitis pigmentosa 80 retinitis_pigmentosa_80 Retinitis Pigmentosa 80 IFT140 hypophosphatemic rickets, autosomal recessive, 1 hypophosphatemic_rickets_autosomal_recessive_1_2 Hypophosphatemic Rickets, Autosomal Recessive, 1 DMP1 spondylocostal dysostosis 2, autosomal recessive spondylocostal_dysostosis_2_autosomal_recessive Spondylocostal Dysostosis 2, Autosomal Recessive MESP2 complement component 4a deficiency complement_component_4a_deficiency Complement Component 4a Deficiency C4A DOID:0060297 myopia 26, x-linked, female-limited myopia_26_x_linked_female_limited Myopia 26, X-Linked, Female-Limited ARR3 microcephaly and chorioretinopathy, autosomal recessive, 1 microcephaly_and_chorioretinopathy_autosomal_recessive_1 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 TUBGCP6 amyotrophic lateral sclerosis 23 amyotrophic_lateral_sclerosis_23 Amyotrophic Lateral Sclerosis 23 ANXA11 DOID:0080225 macrocephaly/megalencephaly syndrome, autosomal recessive macrocephaly_megalencephaly_syndrome_autosomal_recessive Macrocephaly/megalencephaly Syndrome, Autosomal Recessive TBC1D7 uv-sensitive syndrome 1 uv_sensitive_syndrome_1 Uv-Sensitive Syndrome 1 ERCC6 joubert syndrome 30 joubert_syndrome_30 Joubert Syndrome 30 ARMC9 DOID:0080275 short-rib thoracic dysplasia 18 with polydactyly short_rib_thoracic_dysplasia_18_with_polydactyly Short-Rib Thoracic Dysplasia 18 with Polydactyly IFT43 DOID:0080293 left ventricular noncompaction 7 left_ventricular_noncompaction_7 Left Ventricular Noncompaction 7 MIB1 deafness, autosomal dominant 73 deafness_autosomal_dominant_73 Deafness, Autosomal Dominant 73 PTPRQ coffin-siris syndrome 6 coffin_siris_syndrome_6 Coffin-Siris Syndrome 6 ARID2 DOID:0080297 deafness, autosomal recessive 106 deafness_autosomal_recessive_106_2 Deafness, Autosomal Recessive 106 EPS8L2 spermatogenic failure 19 spermatogenic_failure_19 Spermatogenic Failure 19 CFAP43 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency APOPT1 DOID:3762 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency PET100 DOID:3762 agammaglobulinemia 1, autosomal recessive agammaglobulinemia_1_autosomal_recessive Agammaglobulinemia 1, Autosomal Recessive IGHM epileptic encephalopathy, infantile or early childhood, 2 epileptic_encephalopathy_infantile_or_early_childhood_2 Epileptic Encephalopathy, Infantile or Early Childhood, 2 GABRB2 exudative vitreoretinopathy 7 exudative_vitreoretinopathy_7 Exudative Vitreoretinopathy 7 CTNNB1 DOID:0080264 glycosylphosphatidylinositol biosynthesis defect 16 glycosylphosphatidylinositol_biosynthesis_defect_16 Glycosylphosphatidylinositol Biosynthesis Defect 16 PIGC epileptic encephalopathy, early infantile, 58 epileptic_encephalopathy_early_infantile_58 Epileptic Encephalopathy, Early Infantile, 58 NTRK2 blepharocheilodontic syndrome 2 blepharocheilodontic_syndrome_2 Blepharocheilodontic Syndrome 2 CTNND1 spermatogenic failure 7 spermatogenic_failure_7 Spermatogenic Failure 7 CATSPER1 3mc syndrome 1 3mc_syndrome_1 3mc Syndrome 1 MASP1 DOID:0060575 nephrotic syndrome 15 nephrotic_syndrome_15 Nephrotic Syndrome 15 MAGI2 DOID:0080271 spinocerebellar ataxia 45 spinocerebellar_ataxia_45 Spinocerebellar Ataxia 45 FAT2 DOID:0080287 mental retardation, autosomal dominant 52 mental_retardation_autosomal_dominant_52 Mental Retardation, Autosomal Dominant 52 ASH1L DOID:0080231 mental retardation, autosomal dominant 56 mental_retardation_autosomal_dominant_56 Mental Retardation, Autosomal Dominant 56 CLTC DOID:0080226 mental retardation, autosomal dominant 50 mental_retardation_autosomal_dominant_50 Mental Retardation, Autosomal Dominant 50 NAA15 DOID:0080233 developmental delay, intellectual disability, obesity, and dysmorphic features developmental_delay_intellectual_disability_obesity_and_dysmorphic_features Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features PHIP branchiootic syndrome branchiootic_syndrome Branchiootic Syndrome EYA1 DOID:0060232 elsahy-waters syndrome elsahy_waters_syndrome Elsahy-Waters Syndrome CDH11 choroidal dystrophy, central areolar, 1 choroidal_dystrophy_central_areolar_1_2 Choroidal Dystrophy, Central Areolar, 1 GUCY2D DOID:980 esophageal cancer esophageal_cancer Esophageal Cancer LZTS1 DOID:5041 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome SDCCAG8 DOID:1935 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ROM1 DOID:10584 colorectal cancer colorectal_cancer Colorectal Cancer PTPRJ DOID:9256 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy KCNT1 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion TPM3 DOID:0080102 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND4 DOID:705 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND6 DOID:705 peters-plus syndrome peters_plus_syndrome_2 Peters-Plus Syndrome PAX6 DOID:0080201 renal-hepatic-pancreatic dysplasia renal_hepatic_pancreatic_dysplasia Renal-Hepatic-Pancreatic Dysplasia NPHP3 DOID:0060259 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome WDR73 DOID:0060364 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND1 DOID:705 diabetes insipidus, nephrogenic, autosomal diabetes_insipidus_nephrogenic_autosomal Diabetes Insipidus, Nephrogenic, Autosomal AVPR2 DOID:12387 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid ETV6 DOID:9119 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND5 DOID:705 unverricht-lundborg syndrome unverricht_lundborg_syndrome Unverricht-Lundborg Syndrome CSTB DOID:3535 colorectal cancer colorectal_cancer Colorectal Cancer RAD54B DOID:9256 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome NSD1 DOID:5572 wilms tumor 6 wilms_tumor_6 Wilms Tumor 6 REST nasopharyngeal carcinoma 3 nasopharyngeal_carcinoma_3_2 Nasopharyngeal Carcinoma 3 MST1R epilepsy, idiopathic generalized 11 epilepsy_idiopathic_generalized_11 Epilepsy, Idiopathic Generalized 11 CLCN2 craniosynostosis 7 craniosynostosis_7 Craniosynostosis 7 SMAD6 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 BRAF DOID:3490 iga nephropathy 3 iga_nephropathy_3 Iga Nephropathy 3 SPRY2 renal dysplasia, cystic renal_dysplasia_cystic Renal Dysplasia, Cystic BICC1 aplastic anemia aplastic_anemia Aplastic Anemia TERT DOID:12449 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-CYB DOID:705 hypertriglyceridemia, familial hypertriglyceridemia_familial Hypertriglyceridemia, Familial LIPI leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-CO3 DOID:705 erythromelalgia erythromelalgia Erythromelalgia SCN9A DOID:9240 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome BRCA1 DOID:5683 arterial calcification of infancy arterial_calcification_of_infancy Arterial Calcification of Infancy ENPP1 DOID:0050644 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome BRCA2 DOID:5683 peters-plus syndrome peters_plus_syndrome_2 Peters-Plus Syndrome CYP1B1 DOID:0080201 early myoclonic encephalopathy early_myoclonic_encephalopathy Early Myoclonic Encephalopathy SLC25A22 DOID:308 amyloidosis, primary localized cutaneous, 3 amyloidosis_primary_localized_cutaneous_3 Amyloidosis, Primary Localized Cutaneous, 3 GPNMB bare lymphocyte syndrome, type i bare_lymphocyte_syndrome_type_i Bare Lymphocyte Syndrome, Type I TAP2 DOID:0060009 cardiomyopathy, familial hypertrophic, 1 cardiomyopathy_familial_hypertrophic_1 Cardiomyopathy, Familial Hypertrophic, 1 MYLK2 DOID:0110307 cardiomyopathy, familial hypertrophic, 1 cardiomyopathy_familial_hypertrophic_1 Cardiomyopathy, Familial Hypertrophic, 1 CAV3 DOID:0110307 charcot-marie-tooth disease, dominant intermediate g charcot_marie_tooth_disease_dominant_intermediate_g Charcot-Marie-Tooth Disease, Dominant Intermediate G NEFL DOID:0080294 colorectal cancer colorectal_cancer Colorectal Cancer PTPN12 DOID:9256 combined oxidative phosphorylation deficiency 36 combined_oxidative_phosphorylation_deficiency_36 Combined Oxidative Phosphorylation Deficiency 36 MRPS2 congenital disorder of glycosylation with defective fucosylation congenital_disorder_of_glycosylation_with_defective_fucosylation Congenital Disorder of Glycosylation with Defective Fucosylation FUT8 congenital heart defects, multiple types, 5 congenital_heart_defects_multiple_types_5 Congenital Heart Defects, Multiple Types, 5 GATA5 cutis laxa, autosomal recessive, type iia cutis_laxa_autosomal_recessive_type_iia Cutis Laxa, Autosomal Recessive, Type Iia ATP6V0A2 DOID:0070134 deafness, autosomal dominant 34, with or without inflammation deafness_autosomal_dominant_34_with_or_without_inflammation Deafness, Autosomal Dominant 34, with or Without Inflammation NLRP3 developmental delay and seizures with or without movement abnormalities developmental_delay_and_seizures_with_or_without_movement_abnormalities Developmental Delay and Seizures with or Without Movement Abnormalities DHDDS dyskeratosis congenita, autosomal dominant 1 dyskeratosis_congenita_autosomal_dominant_1 Dyskeratosis Congenita, Autosomal Dominant 1 TERC DOID:0070014 ehlers-danlos syndrome, classic-like, 2 ehlers_danlos_syndrome_classic_like_2 Ehlers-Danlos Syndrome, Classic-Like, 2 AEBP1 epidermolysis bullosa simplex, autosomal recessive 1 epidermolysis_bullosa_simplex_autosomal_recessive_1 Epidermolysis Bullosa Simplex, Autosomal Recessive 1 KRT5 epidermolysis bullosa simplex, localized epidermolysis_bullosa_simplex_localized Epidermolysis Bullosa Simplex, Localized ITGB4 epidermolysis bullosa with congenital localized absence of skin and deformity of nails epidermolysis_bullosa_with_congenital_localized_absence_of_skin_and_deformity_of_nails Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails COL7A1 epilepsy, familial focal, with variable foci 4 epilepsy_familial_focal_with_variable_foci_4 Epilepsy, Familial Focal, with Variable Foci 4 SCN3A epileptic encephalopathy, early infantile, 59 epileptic_encephalopathy_early_infantile_59 Epileptic Encephalopathy, Early Infantile, 59 GABBR2 epileptic encephalopathy, early infantile, 60 epileptic_encephalopathy_early_infantile_60 Epileptic Encephalopathy, Early Infantile, 60 CNPY3 epileptic encephalopathy, early infantile, 62 epileptic_encephalopathy_early_infantile_62 Epileptic Encephalopathy, Early Infantile, 62 SCN3A epileptic encephalopathy, early infantile, 63 epileptic_encephalopathy_early_infantile_63 Epileptic Encephalopathy, Early Infantile, 63 CPLX1 epileptic encephalopathy, early infantile, 64 epileptic_encephalopathy_early_infantile_64 Epileptic Encephalopathy, Early Infantile, 64 RHOBTB2 epileptic encephalopathy, early infantile, 65 epileptic_encephalopathy_early_infantile_65 Epileptic Encephalopathy, Early Infantile, 65 CYFIP2 erythrocytosis, familial, 5 erythrocytosis_familial_5 Erythrocytosis, Familial, 5 EPO DOID:0080290 esophageal cancer esophageal_cancer Esophageal Cancer DCC DOID:5041 geleophysic dysplasia 3 geleophysic_dysplasia_3 Geleophysic Dysplasia 3 LTBP3 hydrocephalus, nonsyndromic, autosomal recessive 1 hydrocephalus_nonsyndromic_autosomal_recessive_1 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 CCDC88C hyperekplexia 4 hyperekplexia_4 Hyperekplexia 4 ATAD1 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome hypotonia_ataxia_developmental_delay_and_tooth_enamel_defect_syndrome Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome CTBP1 insulinomatosis and diabetes mellitus insulinomatosis_and_diabetes_mellitus Insulinomatosis and Diabetes Mellitus MAFA jaberi-elahi syndrome jaberi_elahi_syndrome Jaberi-Elahi Syndrome GTPBP2 keratoconus 9 keratoconus_9 Keratoconus 9 TUBA3D keratoendotheliitis fugax hereditaria keratoendotheliitis_fugax_hereditaria Keratoendotheliitis Fugax Hereditaria NLRP3 leber congenital amaurosis with early-onset deafness leber_congenital_amaurosis_with_early_onset_deafness Leber Congenital Amaurosis with Early-Onset Deafness TUBB4B leukodystrophy, hypomyelinating, 14 leukodystrophy_hypomyelinating_14 Leukodystrophy, Hypomyelinating, 14 UFM1 DOID:0080296 leukodystrophy, hypomyelinating, 15 leukodystrophy_hypomyelinating_15 Leukodystrophy, Hypomyelinating, 15 EPRS leukodystrophy, hypomyelinating, 16 leukodystrophy_hypomyelinating_16 Leukodystrophy, Hypomyelinating, 16 TMEM106B lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial RAD54B DOID:0060060 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial PRF1 DOID:0060060 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial RAD54L DOID:0060060 mental retardation, autosomal dominant 51 mental_retardation_autosomal_dominant_51 Mental Retardation, Autosomal Dominant 51 KMT5B DOID:0080232 mental retardation, autosomal dominant 53 mental_retardation_autosomal_dominant_53 Mental Retardation, Autosomal Dominant 53 CAMK2A DOID:0080228 mental retardation, autosomal dominant 55, with seizures mental_retardation_autosomal_dominant_55_with_seizures Mental Retardation, Autosomal Dominant 55, with Seizures NUS1 mental retardation, autosomal recessive 61 mental_retardation_autosomal_recessive_61 Mental Retardation, Autosomal Recessive 61 RUSC2 DOID:0080239 methylmalonic aciduria and homocystinuria, cblc type methylmalonic_aciduria_and_homocystinuria_cblc_type Methylmalonic Aciduria and Homocystinuria, Cblc Type PRDX1 DOID:0050715 microcephaly 20, primary, autosomal recessive microcephaly_20_primary_autosomal_recessive Microcephaly 20, Primary, Autosomal Recessive KIF14 microcephaly 22, primary, autosomal recessive microcephaly_22_primary_autosomal_recessive Microcephaly 22, Primary, Autosomal Recessive NCAPD3 multiple mitochondrial dysfunctions syndrome 6 multiple_mitochondrial_dysfunctions_syndrome_6 Multiple Mitochondrial Dysfunctions Syndrome 6 PMPCB multiple synostoses syndrome 4 multiple_synostoses_syndrome_4 Multiple Synostoses Syndrome 4 GDF6 myopathy, centronuclear, 6, with fiber-type disproportion myopathy_centronuclear_6_with_fiber_type_disproportion Myopathy, Centronuclear, 6, with Fiber-Type Disproportion MAP3K20 nephrolithiasis, x-linked recessive, with renal failure nephrolithiasis_x_linked_recessive_with_renal_failure Nephrolithiasis, X-Linked Recessive, with Renal Failure CLCN5 nephrotic syndrome 16 nephrotic_syndrome_16 Nephrotic Syndrome 16 KANK2 DOID:0080272 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter neurodevelopmental_disorder_with_ataxic_gait_absent_speech_and_decreased_cortical_white_matter Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter RAB11B neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features neurodevelopmental_disorder_with_movement_abnormalities_abnormal_gait_and_autistic_features Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features ZSWIM6 neurodevelopmental disorder with poor language and loss of hand skills neurodevelopmental_disorder_with_poor_language_and_loss_of_hand_skills Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills GABBR2 oguchi disease 1 oguchi_disease_1 Oguchi Disease 1 SAG DOID:0110712 optic atrophy 5 optic_atrophy_5 Optic Atrophy 5 DNM1L osteogenesis imperfecta, type xviii osteogenesis_imperfecta_type_xviii Osteogenesis Imperfecta, Type Xviii TENT5A pontocerebellar hypoplasia, type 11 pontocerebellar_hypoplasia_type_11 Pontocerebellar Hypoplasia, Type 11 TBC1D23 rh-null, amorph type rh_null_amorph_type Rh-Null, Amorph Type RHCE shwachman-diamond syndrome 2 shwachman_diamond_syndrome_2 Shwachman-Diamond Syndrome 2 EFL1 spermatogenic failure 24 spermatogenic_failure_24 Spermatogenic Failure 24 CFAP69 spermatogenic failure 25 spermatogenic_failure_25 Spermatogenic Failure 25 TEX15 spinal muscular atrophy, type i, with congenital bone fractures spinal_muscular_atrophy_type_i_with_congenital_bone_fractures Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures TRIP4 spinocerebellar ataxia 47 spinocerebellar_ataxia_47 Spinocerebellar Ataxia 47 PUM1 sweeney-cox syndrome sweeney_cox_syndrome Sweeney-Cox Syndrome TWIST1 thrombocythemia 1 thrombocythemia_1 Thrombocythemia 1 SH2B3 thrombocythemia 1 thrombocythemia_1 Thrombocythemia 1 CALR ververi-brady syndrome ververi_brady_syndrome Ververi-Brady Syndrome QRICH1 multiple familial trichoepithelioma multiple_familial_trichoepithelioma Multiple Familial Trichoepithelioma CYLD proximal symphalangism proximal_symphalangism Proximal Symphalangism NOG DOID:0050788 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion ACTA1 DOID:0080102 fibrochondrogenesis fibrochondrogenesis Fibrochondrogenesis COL11A1 DOID:0060465 essential thrombocythemia essential_thrombocythemia Essential Thrombocythemia THPO DOID:2224 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND4L DOID:705 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ATP6 DOID:705 severe congenital neutropenia autosomal dominant severe_congenital_neutropenia_autosomal_dominant Severe Congenital Neutropenia Autosomal Dominant ELANE leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND2 DOID:705 hydrops fetalis, nonimmune, and/or atrial septal defect hydrops_fetalis_nonimmune_and_or_atrial_septal_defect Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect EPHB4 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome BBS2 DOID:1935 lymphoma, mucosa-associated lymphoid type lymphoma_mucosa_associated_lymphoid_type Lymphoma, Mucosa-Associated Lymphoid Type BCL10 DOID:0050909 maleylacetoacetate isomerase deficiency maleylacetoacetate_isomerase_deficiency Maleylacetoacetate Isomerase Deficiency GSTZ1 uv-sensitive syndrome uv_sensitive_syndrome Uv-Sensitive Syndrome ERCC6 DOID:0060240 hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex APCDD1 pendred syndrome pendred_syndrome Pendred Syndrome FOXI1 DOID:0060744 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion SELENON DOID:0080102 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CLRN1 DOID:10584 usher syndrome, type i usher_syndrome_type_i_2 Usher Syndrome, Type I USH1C DOID:0110833 hypokalemic periodic paralysis, type 1 hypokalemic_periodic_paralysis_type_1_2 Hypokalemic Periodic Paralysis, Type 1 SCN4A DOID:14452 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome BBS10 DOID:1935 hereditary night blindness hereditary_night_blindness Hereditary Night Blindness SAG DOID:8498 distal hereditary motor neuropathy, type v distal_hereditary_motor_neuropathy_type_v_2 Distal Hereditary Motor Neuropathy, Type V GARS epileptic encephalopathy, early infantile, 55 epileptic_encephalopathy_early_infantile_55 Epileptic Encephalopathy, Early Infantile, 55 PIGP bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome BBS12 DOID:1935 precocious puberty, central, 1 precocious_puberty_central_1 Precocious Puberty, Central, 1 KISS1R myocardial infarction myocardial_infarction Myocardial Infarction MIAT DOID:5844 essential thrombocythemia essential_thrombocythemia Essential Thrombocythemia CALR DOID:2224 refsum disease, classic refsum_disease_classic Refsum Disease, Classic PEX7 DOID:10582 myoclonic epilepsy associated with ragged-red fibers myoclonic_epilepsy_associated_with_ragged_red_fibers Myoclonic Epilepsy Associated with Ragged-Red Fibers MT-TK DOID:310 infantile nephronophthisis infantile_nephronophthisis Infantile Nephronophthisis INVS coloboma of macula coloboma_of_macula Coloboma of Macula PAX6 DOID:12270 cataract 42 cataract_42 Cataract 42 CRYBA2 DOID:0110237 cockayne syndrome type i cockayne_syndrome_type_i Cockayne Syndrome Type I ERCC8 hypocalcemic vitamin d-dependent rickets hypocalcemic_vitamin_d_dependent_rickets Hypocalcemic Vitamin D-Dependent Rickets CYP27B1 polydactyly, postaxial, type a6 polydactyly_postaxial_type_a6 Polydactyly, Postaxial, Type A6 ZNF141 myoclonic epilepsy associated with ragged-red fibers myoclonic_epilepsy_associated_with_ragged_red_fibers Myoclonic Epilepsy Associated with Ragged-Red Fibers MT-TL1 DOID:310 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes MAX deafness enamel hypoplasia nail defects deafness_enamel_hypoplasia_nail_defects Deafness Enamel Hypoplasia Nail Defects PEX1 methylmalonic aciduria, transient, due to transcobalamin receptor defect methylmalonic_aciduria_transient_due_to_transcobalamin_receptor_defect Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect CD320 toe syndactyly, telecanthus, and anogenital and renal malformations toe_syndactyly_telecanthus_and_anogenital_and_renal_malformations Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations CCNQ inflammatory bowel disease 25, autosomal recessive inflammatory_bowel_disease_25_autosomal_recessive Inflammatory Bowel Disease 25, Autosomal Recessive IL10RB neurilemmomatosis neurilemmomatosis Neurilemmomatosis SMARCB1 DOID:3204 musculocontractural ehlers-danlos syndrome musculocontractural_ehlers_danlos_syndrome Musculocontractural Ehlers-Danlos Syndrome CHST14 thyroid cancer, nonmedullary, 5 thyroid_cancer_nonmedullary_5 Thyroid Cancer, Nonmedullary, 5 HABP2 distal hereditary motor neuropathy, type v distal_hereditary_motor_neuropathy_type_v_2 Distal Hereditary Motor Neuropathy, Type V BSCL2 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TMEM237 DOID:0110980 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TCTN2 DOID:0110980 peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX12 DOID:0050444 chondrosarcoma, extraskeletal myxoid chondrosarcoma_extraskeletal_myxoid Chondrosarcoma, Extraskeletal Myxoid NR4A3 DOID:6496 diabetes mellitus, permanent neonatal diabetes_mellitus_permanent_neonatal Diabetes Mellitus, Permanent Neonatal PDX1 DOID:0060639 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome BBS7 DOID:1935 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RPGR DOID:10584 essential thrombocythemia essential_thrombocythemia Essential Thrombocythemia SH2B3 DOID:2224 salivary gland adenoma, pleomorphic salivary_gland_adenoma_pleomorphic Salivary Gland Adenoma, Pleomorphic PLAG1 spinocerebellar ataxia 20 spinocerebellar_ataxia_20 Spinocerebellar Ataxia 20 SCA20 DOID:0050971 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 UBQLN2 DOID:332 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS19 DOID:1339 neuroblastoma neuroblastoma Neuroblastoma ALK DOID:769 achromatopsia achromatopsia Achromatopsia CNGB3 DOID:13911 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome BBS9 DOID:1935 retinal dystrophy with or without extraocular anomalies retinal_dystrophy_with_or_without_extraocular_anomalies Retinal Dystrophy with or Without Extraocular Anomalies RCBTB1 carcinoid tumors, intestinal carcinoid_tumors_intestinal Carcinoid Tumors, Intestinal SDHD thrombocythemia 2 thrombocythemia_2 Thrombocythemia 2 MPL bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome BBS5 DOID:1935 adenosine monophosphate deaminase 1 deficiency adenosine_monophosphate_deaminase_1_deficiency Adenosine Monophosphate Deaminase 1 Deficiency AMPD1 agammaglobulinemia, non-bruton type agammaglobulinemia_non_bruton_type Agammaglobulinemia, Non-Bruton Type IGHM autosomal recessive chorioretinopathy-microcephaly syndrome autosomal_recessive_chorioretinopathy_microcephaly_syndrome Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome TUBGCP6 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant ectodermal_dysplasia_10a_hypohidrotic_hair_nail_type_autosomal_dominant Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant EDARADD ehlers-danlos syndrome, classic type, 2 ehlers_danlos_syndrome_classic_type_2 Ehlers-Danlos Syndrome, Classic Type, 2 COL5A2 hemoglobin se disease hemoglobin_se_disease Hemoglobin Se Disease HBB immunodeficiency by defective expression of hla class 1 immunodeficiency_by_defective_expression_of_hla_class_1 Immunodeficiency by Defective Expression of Hla Class 1 TAPBP immunodeficiency by defective expression of hla class 1 immunodeficiency_by_defective_expression_of_hla_class_1 Immunodeficiency by Defective Expression of Hla Class 1 TAP2 immunodeficiency by defective expression of hla class 1 immunodeficiency_by_defective_expression_of_hla_class_1 Immunodeficiency by Defective Expression of Hla Class 1 TAP1 myoclonic epilepsy associated with ragged-red fibers myoclonic_epilepsy_associated_with_ragged_red_fibers Myoclonic Epilepsy Associated with Ragged-Red Fibers MT-TP DOID:310 myoclonic epilepsy associated with ragged-red fibers myoclonic_epilepsy_associated_with_ragged_red_fibers Myoclonic Epilepsy Associated with Ragged-Red Fibers MT-TF DOID:310 neuropathy, hereditary sensory and autonomic, type iia neuropathy_hereditary_sensory_and_autonomic_type_iia Neuropathy, Hereditary Sensory and Autonomic, Type Iia SCN9A DOID:0070161 neuropathy, hereditary sensory and autonomic, type iia neuropathy_hereditary_sensory_and_autonomic_type_iia Neuropathy, Hereditary Sensory and Autonomic, Type Iia RETREG1 DOID:0070161 neuropathy, hereditary sensory and autonomic, type iia neuropathy_hereditary_sensory_and_autonomic_type_iia Neuropathy, Hereditary Sensory and Autonomic, Type Iia KIF1A DOID:0070161 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RHO DOID:10584 exudative vitreoretinopathy 1 exudative_vitreoretinopathy_1 Exudative Vitreoretinopathy 1 LRP5 DOID:13025 achromatopsia achromatopsia Achromatopsia CNGA3 DOID:13911 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa USH2A DOID:10584 rett syndrome rett_syndrome Rett Syndrome CDKL5 DOID:1206 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PDE6B DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ABCA4 DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SNRNP200 DOID:10584 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome TTC8 DOID:1935 brugada syndrome brugada_syndrome Brugada Syndrome SCN5A DOID:0050451 catecholaminergic polymorphic ventricular tachycardia catecholaminergic_polymorphic_ventricular_tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia CASQ2 DOID:0060674 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RP1 DOID:10584 autosomal dominant polycystic kidney disease autosomal_dominant_polycystic_kidney_disease Autosomal Dominant Polycystic Kidney Disease PKD2 DOID:898 congenital ichthyosiform erythroderma congenital_ichthyosiform_erythroderma Congenital Ichthyosiform Erythroderma TGM1 DOID:1699 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome POMT1 DOID:0050560 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome FKTN DOID:0050560 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS24 DOID:1339 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita RTEL1 DOID:2729 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis LCA5 DOID:14791 catecholaminergic polymorphic ventricular tachycardia catecholaminergic_polymorphic_ventricular_tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia RYR2 DOID:0060674 pancreatic agenesis pancreatic_agenesis Pancreatic Agenesis PDX1 DOID:0050877 hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic_hypogonadism_1_with_or_without_anosmia Hypogonadotropic Hypogonadism 1 with or Without Anosmia ANOS1 DOID:0090094 colorectal cancer colorectal_cancer Colorectal Cancer MLH1 DOID:9256 pituitary adenoma 2, growth hormone-secreting pituitary_adenoma_2_growth_hormone_secreting Pituitary Adenoma 2, Growth Hormone-Secreting GPR101 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRPH2 DOID:10584 macular dystrophy, patterned, 2 macular_dystrophy_patterned_2 Macular Dystrophy, Patterned, 2 CTNNA1 DOID:0060864 hemophagocytic lymphohistiocytosis hemophagocytic_lymphohistiocytosis Hemophagocytic Lymphohistiocytosis PRF1 DOID:0050120 hyperparathyroidism 4 hyperparathyroidism_4 Hyperparathyroidism 4 GCM2 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations GDF1 adiponectin, serum level of, quantitative trait locus 1 adiponectin_serum_level_of_quantitative_trait_locus_1 Adiponectin, Serum Level of, Quantitative Trait Locus 1 ADIPOQ colorectal cancer colorectal_cancer Colorectal Cancer BRAF DOID:9256 stargardt disease stargardt_disease Stargardt Disease ABCA4 DOID:0050817 townes-brocks syndrome townes_brocks_syndrome Townes-Brocks Syndrome SALL1 DOID:0050887 essential thrombocythemia essential_thrombocythemia Essential Thrombocythemia MPL DOID:2224 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome FKRP DOID:0050560 axenfeld-rieger syndrome axenfeld_rieger_syndrome Axenfeld-Rieger Syndrome PITX2 DOID:14686 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis AIPL1 DOID:14791 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis CRB1 DOID:14791 chronic granulomatous disease chronic_granulomatous_disease Chronic Granulomatous Disease CYBB DOID:3265 congenital ichthyosiform erythroderma congenital_ichthyosiform_erythroderma Congenital Ichthyosiform Erythroderma ALOX12B DOID:1699 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CRB1 DOID:10584 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis NMNAT1 DOID:14791 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa EYS DOID:10584 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis SPATA7 DOID:14791 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa TULP1 DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PDE6A DOID:10584 dysplastic nevus syndrome dysplastic_nevus_syndrome Dysplastic Nevus Syndrome CDKN2A DOID:10041 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCC DOID:13636 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome LZTFL1 DOID:1935 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome BBIP1 DOID:1935 ovarian cancer ovarian_cancer Ovarian Cancer BRCA1 DOID:2394 catecholaminergic polymorphic ventricular tachycardia catecholaminergic_polymorphic_ventricular_tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia TRDN DOID:0060674 cardiofaciocutaneous syndrome 1 cardiofaciocutaneous_syndrome_1 Cardiofaciocutaneous Syndrome 1 MAP2K2 DOID:0060233 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 KCNH2 DOID:0110644 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis RPE65 DOID:14791 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness CACNA1F DOID:0050534 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita CTC1 DOID:2729 mantle cell lymphoma mantle_cell_lymphoma Mantle Cell Lymphoma ATM DOID:0050746 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis RPGRIP1 DOID:14791 familial cold autoinflammatory syndrome familial_cold_autoinflammatory_syndrome Familial Cold Autoinflammatory Syndrome NLRP3 DOID:0090061 infantile myofibromatosis infantile_myofibromatosis Infantile Myofibromatosis PDGFRB DOID:0080109 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness GRM6 DOID:0050534 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL5 DOID:1339 hemophagocytic lymphohistiocytosis hemophagocytic_lymphohistiocytosis Hemophagocytic Lymphohistiocytosis STXBP2 DOID:0050120 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita TINF2 DOID:2729 chronic granulomatous disease chronic_granulomatous_disease Chronic Granulomatous Disease NCF4 DOID:3265 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic TP53 DOID:1040 exudative vitreoretinopathy exudative_vitreoretinopathy Exudative Vitreoretinopathy LRP5 DOID:0050535 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome TRIM32 DOID:1935 chronic granulomatous disease chronic_granulomatous_disease Chronic Granulomatous Disease CYBA DOID:3265 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CERKL DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RPE65 DOID:10584 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 KRAS DOID:3490 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa MERTK DOID:10584 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 SOS1 DOID:3490 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa TOPORS DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CNGB1 DOID:10584 cardiofaciocutaneous syndrome 1 cardiofaciocutaneous_syndrome_1 Cardiofaciocutaneous Syndrome 1 MAP2K1 DOID:0060233 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RDH12 DOID:10584 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 SCN5A DOID:0110644 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND6 DOID:3652 hereditary hemorrhagic telangiectasia hereditary_hemorrhagic_telangiectasia Hereditary Hemorrhagic Telangiectasia ACVRL1 DOID:1270 mosaic variegated aneuploidy syndrome mosaic_variegated_aneuploidy_syndrome Mosaic Variegated Aneuploidy Syndrome CEP57 exudative vitreoretinopathy exudative_vitreoretinopathy Exudative Vitreoretinopathy FZD4 DOID:0050535 keratosis follicularis spinulosa decalvans keratosis_follicularis_spinulosa_decalvans Keratosis Follicularis Spinulosa Decalvans MBTPS2 branchiootorenal syndrome branchiootorenal_syndrome Branchiootorenal Syndrome EYA1 DOID:14702 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis CEP290 DOID:14791 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL11 DOID:1339 cowden disease cowden_disease Cowden Disease PTEN DOID:6457 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung TP53 DOID:5411 cowden disease cowden_disease Cowden Disease PIK3CA DOID:6457 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita NHP2 DOID:2729 brugada syndrome brugada_syndrome Brugada Syndrome CACNA1C DOID:0050451 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PCARE DOID:10584 branchiootorenal syndrome branchiootorenal_syndrome Branchiootorenal Syndrome SIX1 DOID:14702 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 RAF1 DOID:3490 hereditary spherocytosis hereditary_spherocytosis Hereditary Spherocytosis SPTB DOID:12971 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome DLL4 DOID:0060227 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita PARN DOID:2729 dowling-degos disease dowling_degos_disease Dowling-Degos Disease KRT5 DOID:0060256 familial isolated pituitary adenoma familial_isolated_pituitary_adenoma Familial Isolated Pituitary Adenoma AIP retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RLBP1 DOID:10584 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHB brittle cornea syndrome 2 brittle_cornea_syndrome_2 Brittle Cornea Syndrome 2 ZNF469 DOID:14775 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 TMEM67 DOID:0070115 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 AHI1 DOID:0110980 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis IQCB1 DOID:14791 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND4 DOID:3652 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TMEM67 DOID:0110980 childhood hepatocellular carcinoma childhood_hepatocellular_carcinoma Childhood Hepatocellular Carcinoma MET hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHC meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 CEP290 DOID:0070115 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 RPGRIP1L DOID:0070115 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PROM1 DOID:10584 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND3 DOID:705 familial sick sinus syndrome familial_sick_sinus_syndrome Familial Sick Sinus Syndrome SCN5A tooth agenesis tooth_agenesis Tooth Agenesis LRP6 DOID:0050591 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 MKS1 DOID:0110980 tuberous sclerosis 1 tuberous_sclerosis_1_2 Tuberous Sclerosis 1 TSC2 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 SLC25A22 DOID:0050709 achromatopsia achromatopsia Achromatopsia ATF6 DOID:13911 cockayne syndrome type ii cockayne_syndrome_type_ii Cockayne Syndrome Type Ii ERCC6 porokeratosis porokeratosis Porokeratosis MVD DOID:3805 isolated ectopia lentis isolated_ectopia_lentis Isolated Ectopia Lentis FBN1 DOID:0111148 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCG DOID:13636 band heterotopia band_heterotopia Band Heterotopia PAFAH1B1 DOID:0111169 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome RAD51C DOID:5683 alport syndrome, autosomal dominant alport_syndrome_autosomal_dominant Alport Syndrome, Autosomal Dominant COL4A4 DOID:0110032 congenital ichthyosiform erythroderma congenital_ichthyosiform_erythroderma Congenital Ichthyosiform Erythroderma NIPAL4 DOID:1699 juvenile nephronophthisis juvenile_nephronophthisis Juvenile Nephronophthisis NPHP1 neonatal marfan syndrome neonatal_marfan_syndrome Neonatal Marfan Syndrome FBN1 neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX5 corneal dystrophy, posterior polymorphous, 1 corneal_dystrophy_posterior_polymorphous_1 Corneal Dystrophy, Posterior Polymorphous, 1 ZEB1 DOID:0110855 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRCD DOID:10584 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia GATA1 DOID:1339 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCI DOID:13636 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa BEST1 DOID:10584 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation MYL4 DOID:0050650 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCD2 DOID:13636 infantile myofibromatosis infantile_myofibromatosis Infantile Myofibromatosis NOTCH3 DOID:0080109 mosaic variegated aneuploidy syndrome mosaic_variegated_aneuploidy_syndrome Mosaic Variegated Aneuploidy Syndrome BUB1B noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 RIT1 DOID:3490 hereditary methemoglobinemia hereditary_methemoglobinemia Hereditary Methemoglobinemia CYB5R3 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCF DOID:13636 noonan syndrome with multiple lentigines noonan_syndrome_with_multiple_lentigines Noonan Syndrome with Multiple Lentigines PTPN11 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCL DOID:13636 cardiofaciocutaneous syndrome 1 cardiofaciocutaneous_syndrome_1 Cardiofaciocutaneous Syndrome 1 KRAS DOID:0060233 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 GNAO1 DOID:0050709 rett syndrome rett_syndrome Rett Syndrome GABBR2 DOID:1206 mitochondrial neurogastrointestinal encephalomyopathy mitochondrial_neurogastrointestinal_encephalomyopathy Mitochondrial Neurogastrointestinal Encephalomyopathy TYMP hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHD familial glucocorticoid deficiency familial_glucocorticoid_deficiency Familial Glucocorticoid Deficiency MC2R mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency MT-CO3 DOID:3762 cerebellar hypoplasia with endosteal sclerosis cerebellar_hypoplasia_with_endosteal_sclerosis Cerebellar Hypoplasia with Endosteal Sclerosis POLR3B usher syndrome, type i usher_syndrome_type_i_2 Usher Syndrome, Type I PCDH15 DOID:0110833 usher syndrome, type i usher_syndrome_type_i_2 Usher Syndrome, Type I CDH23 DOID:0110833 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma KRAS DOID:4851 peho syndrome peho_syndrome Peho Syndrome KIF1A usher syndrome, type i usher_syndrome_type_i_2 Usher Syndrome, Type I USH1G DOID:0110833 griscelli syndrome, type 3 griscelli_syndrome_type_3_2 Griscelli Syndrome, Type 3 MYO5A DOID:0060834 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability CC2D1A DOID:0060308 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes GRIN2A DOID:3329 deafness, aminoglycoside-induced deafness_aminoglycoside_induced Deafness, Aminoglycoside-Induced MT-RNR1 malignant hyperthermia of anesthesia malignant_hyperthermia_of_anesthesia Malignant Hyperthermia of Anesthesia RYR1 metachromatic leukodystrophy, adult form metachromatic_leukodystrophy_adult_form Metachromatic Leukodystrophy, Adult Form ARSA metachromatic leukodystrophy, juvenile form metachromatic_leukodystrophy_juvenile_form Metachromatic Leukodystrophy, Juvenile Form ARSA metachromatic leukodystrophy, late infantile form metachromatic_leukodystrophy_late_infantile_form Metachromatic Leukodystrophy, Late Infantile Form ARSA polydactyly cleft lip palate psychomotor retardation polydactyly_cleft_lip_palate_psychomotor_retardation Polydactyly Cleft Lip Palate Psychomotor Retardation CPLANE1 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly DYNC2H1 DOID:0110085 visceral myopathy visceral_myopathy Visceral Myopathy LMOD1 DOID:0060610 hemoglobin e disease hemoglobin_e_disease Hemoglobin E Disease HBB DOID:5379 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 NRAS DOID:3490 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND1 DOID:3652 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND2 DOID:3652 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa GUCA1A DOID:10584 factor v and factor viii, combined deficiency of, 2 factor_v_and_factor_viii_combined_deficiency_of_2 Factor V and Factor Viii, Combined Deficiency of, 2 LMAN1 neural tube defects neural_tube_defects Neural Tube Defects PARD3 DOID:0080074 noonan syndrome with multiple lentigines noonan_syndrome_with_multiple_lentigines Noonan Syndrome with Multiple Lentigines RAF1 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHAF2 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa AHI1 DOID:10584 emery-dreifuss muscular dystrophy, x-linked emery_dreifuss_muscular_dystrophy_x_linked Emery-Dreifuss Muscular Dystrophy, X-Linked EMD hypohidrotic ectodermal dysplasia autosomal recessive hypohidrotic_ectodermal_dysplasia_autosomal_recessive Hypohidrotic Ectodermal Dysplasia Autosomal Recessive EDAR tay-sachs disease, b1 variant tay_sachs_disease_b1_variant Tay-Sachs Disease, B1 Variant HEXA vas deferens, congenital bilateral aplasia of vas_deferens_congenital_bilateral_aplasia_of Vas Deferens, Congenital Bilateral Aplasia of ADGRG2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb GPSM2 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation hemorrhagic_disease_due_to_alpha_1_antitrypsin_pittsburgh_mutation_2 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation SERPINA1 hypocalcified amelogenesis imperfecta hypocalcified_amelogenesis_imperfecta Hypocalcified Amelogenesis Imperfecta FAM83H mild hemophilia a mild_hemophilia_a Mild Hemophilia a F8 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly IFT140 DOID:0110085 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 CC2D2A DOID:0070115 hypotrichosis simplex of the scalp hypotrichosis_simplex_of_the_scalp Hypotrichosis Simplex of the Scalp CDSN hyperinsulinism due to hnf4a deficiency hyperinsulinism_due_to_hnf4a_deficiency Hyperinsulinism Due to Hnf4a Deficiency HNF4A familial paroxysmal nonkinesigenic dyskinesia familial_paroxysmal_nonkinesigenic_dyskinesia Familial Paroxysmal Nonkinesigenic Dyskinesia PNKD wiedemann-steiner syndrome wiedemann_steiner_syndrome Wiedemann-Steiner Syndrome SMC1A hydrocephalus with stenosis of the aqueduct of sylvius hydrocephalus_with_stenosis_of_the_aqueduct_of_sylvius Hydrocephalus with Stenosis of the Aqueduct of Sylvius L1CAM hereditary sensory and autonomic neuropathy type 1 hereditary_sensory_and_autonomic_neuropathy_type_1 Hereditary Sensory and Autonomic Neuropathy Type 1 SPTLC1 DOID:0070162 hypoplastic amelogenesis imperfecta hypoplastic_amelogenesis_imperfecta Hypoplastic Amelogenesis Imperfecta LAMB3 osteosclerotic metaphyseal dysplasia osteosclerotic_metaphyseal_dysplasia Osteosclerotic Metaphyseal Dysplasia LRRK1 desbuquois dysplasia 1 desbuquois_dysplasia_1 Desbuquois Dysplasia 1 XYLT1 severe congenital neutropenia autosomal dominant severe_congenital_neutropenia_autosomal_dominant Severe Congenital Neutropenia Autosomal Dominant TCIRG1 mitochondrial neurogastrointestinal encephalomyopathy mitochondrial_neurogastrointestinal_encephalomyopathy Mitochondrial Neurogastrointestinal Encephalomyopathy POLG autosomal dominant epilepsy with auditory features autosomal_dominant_epilepsy_with_auditory_features Autosomal Dominant Epilepsy with Auditory Features LGI1 myoclonic epilepsy associated with ragged-red fibers myoclonic_epilepsy_associated_with_ragged_red_fibers Myoclonic Epilepsy Associated with Ragged-Red Fibers MT-ND5 DOID:310 martsolf syndrome martsolf_syndrome Martsolf Syndrome RAB3GAP1 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 B9D1 DOID:0110980 short-rib thoracic dysplasia 3 with or without polydactyly short_rib_thoracic_dysplasia_3_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly WDR34 DOID:0110087 usher syndrome, type i usher_syndrome_type_i_2 Usher Syndrome, Type I CIB2 DOID:0110833 nonaka myopathy nonaka_myopathy Nonaka Myopathy SQSTM1 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 KIAA0586 DOID:0110980 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes MT-TL1 DOID:3687 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 TCTN2 DOID:0070115 isolated aniridia isolated_aniridia Isolated Aniridia PAX6 short-rib thoracic dysplasia 6 with or without polydactyly short_rib_thoracic_dysplasia_6_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly DYNC2H1 DOID:0110092 familial short qt syndrome familial_short_qt_syndrome Familial Short Qt Syndrome KCNH2 familial short qt syndrome familial_short_qt_syndrome Familial Short Qt Syndrome KCNJ2 familial short qt syndrome familial_short_qt_syndrome Familial Short Qt Syndrome KCNQ1 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma BRAF meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 GMNN DOID:0060306 hemoglobin c disease hemoglobin_c_disease Hemoglobin C Disease HBB DOID:2859 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 CDKL5 DOID:0050709 visceral myopathy visceral_myopathy Visceral Myopathy MYLK DOID:0060610 gastric cancer gastric_cancer Gastric Cancer KRAS DOID:5517 glaucoma 3, primary congenital, a glaucoma_3_primary_congenital_a Glaucoma 3, Primary Congenital, a LTBP2 DOID:11211 andersen cardiodysrhythmic periodic paralysis andersen_cardiodysrhythmic_periodic_paralysis Andersen Cardiodysrhythmic Periodic Paralysis KCNJ5 DOID:0050434 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa IFT140 DOID:10584 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome NPHP1 DOID:1935 kuru kuru Kuru PRNP DOID:648 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-TW DOID:3652 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy NDUFS2 DOID:705 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a SLX4 DOID:13636 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-TK DOID:3652 asthma asthma Asthma ADRB2 DOID:2841 short-rib thoracic dysplasia 3 with or without polydactyly short_rib_thoracic_dysplasia_3_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly WDR60 DOID:0110087 shwachman-diamond syndrome 1 shwachman_diamond_syndrome_1 Shwachman-Diamond Syndrome 1 SRP54 DOID:0060479 budd-chiari syndrome budd_chiari_syndrome Budd-Chiari Syndrome F5 DOID:11512 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-TL1 DOID:3652 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 CSPP1 DOID:0070115 asthma asthma Asthma IL13 DOID:2841 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 SQSTM1 DOID:0060213 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes GABRG2 DOID:3329 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa UNC119 DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SCAPER DOID:10584 cardiomyopathy, infantile histiocytoid cardiomyopathy_infantile_histiocytoid Cardiomyopathy, Infantile Histiocytoid MT-CYB DOID:0080198 allergic rhinitis allergic_rhinitis Allergic Rhinitis IL13 DOID:4481 atrophoderma vermiculata atrophoderma_vermiculata Atrophoderma Vermiculata LRP1 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb LOXHD1 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb SLC26A4 childhood apraxia of speech childhood_apraxia_of_speech Childhood Apraxia of Speech FOXP2 chondrodysplasia punctata, brachytelephalangic, autosomal chondrodysplasia_punctata_brachytelephalangic_autosomal Chondrodysplasia Punctata, Brachytelephalangic, Autosomal ARSE combined pituitary hormone deficiencies, genetic forms combined_pituitary_hormone_deficiencies_genetic_forms Combined Pituitary Hormone Deficiencies, Genetic Forms PROP1 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome congenital_cataract_hypertrophic_cardiomyopathy_mitochondrial_myopathy_syndrome Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome AGK cutis laxa, autosomal dominant 1 cutis_laxa_autosomal_dominant_1 Cutis Laxa, Autosomal Dominant 1 FBLN5 DOID:0070142 dextrocardia with situs inversus dextrocardia_with_situs_inversus Dextrocardia with Situs Inversus PKD1L1 diabetes and deafness, maternally inherited diabetes_and_deafness_maternally_inherited Diabetes and Deafness, Maternally Inherited MT-TL1 diabetes and deafness, maternally inherited diabetes_and_deafness_maternally_inherited Diabetes and Deafness, Maternally Inherited MT-TK diabetes and deafness, maternally inherited diabetes_and_deafness_maternally_inherited Diabetes and Deafness, Maternally Inherited MT-TE ehlers-danlos syndrome, periodontal type, 1 ehlers_danlos_syndrome_periodontal_type_1_2 Ehlers-Danlos Syndrome, Periodontal Type, 1 C1S familial drusen familial_drusen Familial Drusen EFEMP1 familial or sporadic hemiplegic migraine familial_or_sporadic_hemiplegic_migraine Familial or Sporadic Hemiplegic Migraine ATP1A2 familial thyroid dyshormonogenesis familial_thyroid_dyshormonogenesis Familial Thyroid Dyshormonogenesis TG fatal infantile cytochrome c oxidase deficiency fatal_infantile_cytochrome_c_oxidase_deficiency Fatal Infantile Cytochrome C Oxidase Deficiency SCO2 female infertility due to zona pellucida defect female_infertility_due_to_zona_pellucida_defect Female Infertility Due to Zona Pellucida Defect ZP1 fibular hypoplasia and complex brachydactyly fibular_hypoplasia_and_complex_brachydactyly Fibular Hypoplasia and Complex Brachydactyly BMPR1B DOID:0050790 glycogen storage disease due to liver phosphorylase kinase deficiency glycogen_storage_disease_due_to_liver_phosphorylase_kinase_deficiency Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency PHKG2 hemoglobin e-beta-thalassemia syndrome hemoglobin_e_beta_thalassemia_syndrome Hemoglobin E-Beta-Thalassemia Syndrome HBB hemoglobinopathy toms river hemoglobinopathy_toms_river Hemoglobinopathy Toms River HBG2 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome RAD51D DOID:5683 hereditary combined deficiency of vitamin k-dependent clotting factors hereditary_combined_deficiency_of_vitamin_k_dependent_clotting_factors Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors GGCX hydatidiform mole, recurrent, 1 hydatidiform_mole_recurrent_1 Hydatidiform Mole, Recurrent, 1 KHDC3L hypertrichosis, congenital generalized, with or without gingival hyperplasia hypertrichosis_congenital_generalized_with_or_without_gingival_hyperplasia Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia ABCA5 hypohidrotic ectodermal dysplasia autosomal recessive hypohidrotic_ectodermal_dysplasia_autosomal_recessive Hypohidrotic Ectodermal Dysplasia Autosomal Recessive EDARADD hypohidrotic ectodermal dysplasia with immunodeficiency hypohidrotic_ectodermal_dysplasia_with_immunodeficiency Hypohidrotic Ectodermal Dysplasia with Immunodeficiency IKBKG immunodeficiency due to a late component of complement deficiency immunodeficiency_due_to_a_late_component_of_complement_deficiency Immunodeficiency Due to a Late Component of Complement Deficiency C6 infantile nephronophthisis infantile_nephronophthisis Infantile Nephronophthisis ANKS6 isolated congenital megalocornea isolated_congenital_megalocornea Isolated Congenital Megalocornea CHRDL1 isolated focal non-epidermolytic palmoplantar keratoderma isolated_focal_non_epidermolytic_palmoplantar_keratoderma Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma TRPV3 keratoderma, palmoplantar, with deafness keratoderma_palmoplantar_with_deafness Keratoderma, Palmoplantar, with Deafness MT-TS1 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-TV DOID:3652 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid TGM6 DOID:9119 melorheostosis with osteopoikilosis melorheostosis_with_osteopoikilosis Melorheostosis with Osteopoikilosis LEMD3 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COA3 DOID:3762 mitochondrial myopathy with diabetes mitochondrial_myopathy_with_diabetes Mitochondrial Myopathy with Diabetes MT-TE mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes MT-TF DOID:3687 mitochondrial myopathy, infantile, transient mitochondrial_myopathy_infantile_transient Mitochondrial Myopathy, Infantile, Transient MT-TE mucopolysaccharidosis type 2, severe form mucopolysaccharidosis_type_2_severe_form Mucopolysaccharidosis Type 2, Severe Form IDS multiple benign circumferential skin creases on limbs multiple_benign_circumferential_skin_creases_on_limbs Multiple Benign Circumferential Skin Creases on Limbs TUBB radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome radio_ulnar_synostosis_amegakaryocytic_thrombocytopenia_syndrome Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome HOXA11 renal hypodysplasia/aplasia 3 renal_hypodysplasia_aplasia_3 Renal Hypodysplasia/aplasia 3 FREM2 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly IFT80 DOID:0110085 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly TTC21B DOID:0110085 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly WDR19 DOID:0110085 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly WDR34 DOID:0110085 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly WDR60 DOID:0110085 short-rib thoracic dysplasia 6 with or without polydactyly short_rib_thoracic_dysplasia_6_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly TRAF3IP1 DOID:0110092 spondylodysplastic ehlers-danlos syndrome spondylodysplastic_ehlers_danlos_syndrome Spondylodysplastic Ehlers-Danlos Syndrome B4GALT7 tumoral calcinosis, hyperphosphatemic, familial, 1 tumoral_calcinosis_hyperphosphatemic_familial_1 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 KL DOID:0111063 x-linked intellectual disability, siderius type x_linked_intellectual_disability_siderius_type X-Linked Intellectual Disability, Siderius Type PHF8 aplastic anemia aplastic_anemia Aplastic Anemia IFNG DOID:12449 lung cancer lung_cancer Lung Cancer CASP8 DOID:3908 asthma asthma Asthma ALOX5 DOID:2841 exfoliation syndrome exfoliation_syndrome Exfoliation Syndrome LOXL1 DOID:13641 systemic lupus erythematosus systemic_lupus_erythematosus Systemic Lupus Erythematosus FCGR2B DOID:9074 keratosis, seborrheic keratosis_seborrheic Keratosis, Seborrheic FGFR3 DOID:6498 obsessive-compulsive disorder obsessive_compulsive_disorder Obsessive-Compulsive Disorder SLC6A4 DOID:10933 schizophrenia schizophrenia Schizophrenia COMT DOID:5419 hematuria, benign familial hematuria_benign_familial Hematuria, Benign Familial COL4A4 systemic lupus erythematosus systemic_lupus_erythematosus Systemic Lupus Erythematosus DNASE1 DOID:9074 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent INSR DOID:9352 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-ND1 DOID:0060536 alzheimer disease alzheimer_disease Alzheimer Disease A2M DOID:10652 intervertebral disc disease intervertebral_disc_disease Intervertebral Disc Disease COL9A3 systemic lupus erythematosus systemic_lupus_erythematosus Systemic Lupus Erythematosus FCGR2A DOID:9074 myocardial infarction myocardial_infarction Myocardial Infarction OLR1 DOID:5844 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder DRD4 DOID:1094 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid SETBP1 DOID:8552 microvascular complications of diabetes 1 microvascular_complications_of_diabetes_1 Microvascular Complications of Diabetes 1 VEGFA DOID:13207 alcohol dependence alcohol_dependence Alcohol Dependence ADH1B DOID:0050741 asthma asthma Asthma CCL11 DOID:2841 kawasaki disease kawasaki_disease Kawasaki Disease ITPKC DOID:13378 schizophrenia schizophrenia Schizophrenia HTR2A DOID:5419 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 amyotrophic_lateral_sclerosis_parkinsonism_dementia_complex_1 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 TRPM7 myopathy, lactic acidosis, and sideroblastic anemia 3 myopathy_lactic_acidosis_and_sideroblastic_anemia_3 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 MT-ATP6 46,xy sex reversal 8 46xy_sex_reversal_8_2 46,xy Sex Reversal 8 AKR1C4 hypertrophic neuropathy of dejerine-sottas hypertrophic_neuropathy_of_dejerine_sottas Hypertrophic Neuropathy of Dejerine-Sottas GJB1 DOID:0050540 ataxia and polyneuropathy, adult-onset ataxia_and_polyneuropathy_adult_onset Ataxia and Polyneuropathy, Adult-Onset MT-ATP6 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations ZFPM2 systemic lupus erythematosus systemic_lupus_erythematosus Systemic Lupus Erythematosus CTLA4 DOID:9074 psoriatic arthritis psoriatic_arthritis Psoriatic Arthritis LTA DOID:9008 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 NEFH DOID:332 kaposi sarcoma kaposi_sarcoma Kaposi Sarcoma IL6 DOID:8632 asthma asthma Asthma TNF DOID:2841 neural tube defects neural_tube_defects Neural Tube Defects TBXT DOID:0080074 pulmonary fibrosis, idiopathic pulmonary_fibrosis_idiopathic Pulmonary Fibrosis, Idiopathic MUC5B DOID:0050156 chromosome 2q37 deletion syndrome chromosome_2q37_deletion_syndrome Chromosome 2q37 Deletion Syndrome HDAC4 rheumatoid arthritis, systemic juvenile rheumatoid_arthritis_systemic_juvenile Rheumatoid Arthritis, Systemic Juvenile IL6 nonarteritic anterior ischemic optic neuropathy nonarteritic_anterior_ischemic_optic_neuropathy Nonarteritic Anterior Ischemic Optic Neuropathy GP1BA DOID:12010 meningioma, familial meningioma_familial Meningioma, Familial SUFU DOID:4586 breast cancer breast_cancer Breast Cancer ESR1 DOID:3459 major depressive disorder major_depressive_disorder Major Depressive Disorder HTR2A DOID:1470 pseudofolliculitis barbae pseudofolliculitis_barbae Pseudofolliculitis Barbae KRT75 osteoporosis osteoporosis Osteoporosis LRP5 DOID:11476 cystic fibrosis cystic_fibrosis Cystic Fibrosis TGFB1 DOID:1485 breast cancer breast_cancer Breast Cancer CASP8 DOID:3459 schizophrenia schizophrenia Schizophrenia MTHFR DOID:5419 spinal muscular atrophy, type iii spinal_muscular_atrophy_type_iii Spinal Muscular Atrophy, Type Iii SMN2 prostate cancer prostate_cancer Prostate Cancer CDH1 DOID:10286 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CXCL12 angioedema induced by ace inhibitors angioedema_induced_by_ace_inhibitors Angioedema Induced by Ace Inhibitors XPNPEP2 obsessive-compulsive disorder obsessive_compulsive_disorder Obsessive-Compulsive Disorder HTR2A DOID:10933 rheumatoid arthritis, systemic juvenile rheumatoid_arthritis_systemic_juvenile Rheumatoid Arthritis, Systemic Juvenile MIF mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-ND3 DOID:0060536 striatonigral degeneration, infantile, mitochondrial striatonigral_degeneration_infantile_mitochondrial Striatonigral Degeneration, Infantile, Mitochondrial MT-ATP6 severe cutaneous adverse reaction severe_cutaneous_adverse_reaction Severe Cutaneous Adverse Reaction HLA-B DOID:0050426 breast cancer breast_cancer Breast Cancer XRCC3 DOID:3459 osteoporosis osteoporosis Osteoporosis CALCR DOID:11476 myocardial infarction myocardial_infarction Myocardial Infarction LTA DOID:5844 osteoporosis osteoporosis Osteoporosis COL1A1 DOID:11476 myocardial infarction myocardial_infarction Myocardial Infarction LGALS2 DOID:5844 myocardial infarction myocardial_infarction Myocardial Infarction LRP8 DOID:5844 myocardial infarction myocardial_infarction Myocardial Infarction F7 DOID:5844 breast cancer breast_cancer Breast Cancer PHB DOID:3459 asthma asthma Asthma MUC7 DOID:2841 major depressive disorder major_depressive_disorder Major Depressive Disorder TPH2 DOID:1470 schizophrenia schizophrenia Schizophrenia DRD3 DOID:5419 gastric cancer gastric_cancer Gastric Cancer ERBB2 DOID:5517 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent RETN DOID:9352 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder DRD5 DOID:1094 helicobacter pylori infection helicobacter_pylori_infection Helicobacter Pylori Infection IFNGR1 breast cancer breast_cancer Breast Cancer RAD54L DOID:3459 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset MAPT DOID:14330 alcohol dependence alcohol_dependence Alcohol Dependence ADH1C DOID:0050741 lung cancer lung_cancer Lung Cancer CYP2A6 DOID:3908 celiac disease 3 celiac_disease_3 Celiac Disease 3 CTLA4 dengue virus dengue_virus Dengue Virus CD209 hypertension, essential hypertension_essential Hypertension, Essential AGT DOID:10825 lung cancer lung_cancer Lung Cancer FASLG DOID:3908 asthma asthma Asthma HNMT DOID:2841 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent SLC30A8 DOID:9352 bardet-biedl syndrome 14 bardet_biedl_syndrome_14 Bardet-Biedl Syndrome 14 TMEM67 DOID:0110136 microvascular complications of diabetes 5 microvascular_complications_of_diabetes_5 Microvascular Complications of Diabetes 5 PON1 DOID:8947 neuroblastoma neuroblastoma Neuroblastoma KIF1B DOID:769 buruli ulcer buruli_ulcer Buruli Ulcer SLC11A1 DOID:0050456 neural tube defects, folate-sensitive neural_tube_defects_folate_sensitive Neural Tube Defects, Folate-Sensitive MTHFR spondyloarthropathy 1 spondyloarthropathy_1 Spondyloarthropathy 1 HLA-B DOID:7147 microvascular complications of diabetes 3 microvascular_complications_of_diabetes_3 Microvascular Complications of Diabetes 3 ACE body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 GHRL DOID:9970 intervertebral disc disease intervertebral_disc_disease Intervertebral Disc Disease CILP alzheimer disease alzheimer_disease Alzheimer Disease PLAU DOID:10652 high density lipoprotein cholesterol level quantitative trait locus 12 high_density_lipoprotein_cholesterol_level_quantitative_trait_locus_12 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 12 LIPC asthma asthma Asthma SCGB3A2 DOID:2841 blood group, junior system blood_group_junior_system Blood Group, Junior System ABCG2 hyperlipidemia, combined, 1 hyperlipidemia_combined_1 Hyperlipidemia, Combined, 1 USF1 body mass index quantitative trait locus 9 body_mass_index_quantitative_trait_locus_9 Body Mass Index Quantitative Trait Locus 9 MC3R white blood cell count quantitative trait locus 1 white_blood_cell_count_quantitative_trait_locus_1 White Blood Cell Count Quantitative Trait Locus 1 ACKR1 systemic lupus erythematosus 10 systemic_lupus_erythematosus_10 Systemic Lupus Erythematosus 10 IRF5 body mass index quantitative trait locus 18 body_mass_index_quantitative_trait_locus_18 Body Mass Index Quantitative Trait Locus 18 MRAP2 body mass index quantitative trait locus 10 body_mass_index_quantitative_trait_locus_10 Body Mass Index Quantitative Trait Locus 10 FFAR4 body mass index quantitative trait locus 12 body_mass_index_quantitative_trait_locus_12 Body Mass Index Quantitative Trait Locus 12 PCSK1 body mass index quantitative trait locus 4 body_mass_index_quantitative_trait_locus_4 Body Mass Index Quantitative Trait Locus 4 UCP2 microvascular complications of diabetes 7 microvascular_complications_of_diabetes_7 Microvascular Complications of Diabetes 7 HFE inflammatory bowel disease 13 inflammatory_bowel_disease_13 Inflammatory Bowel Disease 13 ABCB1 DOID:0110893 autoimmune thyroid disease 3 autoimmune_thyroid_disease_3 Autoimmune Thyroid Disease 3 TG human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 IL10 intervertebral disc disease intervertebral_disc_disease Intervertebral Disc Disease ASPN accelerated tumor formation accelerated_tumor_formation Accelerated Tumor Formation MDM2 microvascular complications of diabetes 6 microvascular_complications_of_diabetes_6 Microvascular Complications of Diabetes 6 SOD2 stroke, ischemic stroke_ischemic Stroke, Ischemic F5 DOID:3526 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 ADRB3 DOID:9970 hypertension, essential hypertension_essential Hypertension, Essential ADD1 DOID:10825 microvascular complications of diabetes 2 microvascular_complications_of_diabetes_2 Microvascular Complications of Diabetes 2 EPO hepatitis c virus hepatitis_c_virus Hepatitis C Virus IFNG inflammatory bowel disease 17 inflammatory_bowel_disease_17 Inflammatory Bowel Disease 17 IL23R DOID:0110883 autism 15 autism_15 Autism 15 CNTNAP2 hypercalciuria, absorptive, 2 hypercalciuria_absorptive_2 Hypercalciuria, Absorptive, 2 ADCY10 prostate cancer, hereditary, 13 prostate_cancer_hereditary_13 Prostate Cancer, Hereditary, 13 MSMB hemangioma, capillary infantile hemangioma_capillary_infantile Hemangioma, Capillary Infantile ANTXR1 coronary heart disease 5 coronary_heart_disease_5 Coronary Heart Disease 5 KALRN hypertension, essential hypertension_essential Hypertension, Essential GNB3 DOID:10825 celiac disease 4 celiac_disease_4 Celiac Disease 4 MYO9B pulmonary hypertension, neonatal pulmonary_hypertension_neonatal Pulmonary Hypertension, Neonatal CPS1 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma CTNNB1 DOID:916 pancreatic cancer 1 pancreatic_cancer_1 Pancreatic Cancer 1 PALLD west nile virus west_nile_virus West Nile Virus CCR5 polysubstance abuse polysubstance_abuse Polysubstance Abuse FAAH colorectal cancer 3 colorectal_cancer_3 Colorectal Cancer 3 SMAD7 neuroblastoma 2 neuroblastoma_2 Neuroblastoma 2 PHOX2B sarcoidosis 2 sarcoidosis_2 Sarcoidosis 2 BTNL2 autism 16 autism_16 Autism 16 SLC9A9 tobacco addiction tobacco_addiction Tobacco Addiction SLC6A3 DOID:0050742 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 PRPH DOID:332 leber optic atrophy and dystonia leber_optic_atrophy_and_dystonia Leber Optic Atrophy and Dystonia MT-ND6 leber optic atrophy and dystonia leber_optic_atrophy_and_dystonia Leber Optic Atrophy and Dystonia MT-ND4 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial BRAF DOID:0060060 pancreatitis, hereditary pancreatitis_hereditary Pancreatitis, Hereditary PRSS2 paroxysmal nonkinesigenic dyskinesia 1 paroxysmal_nonkinesigenic_dyskinesia_1 Paroxysmal Nonkinesigenic Dyskinesia 1 PNKD DOID:0090049 dementia, lewy body dementia_lewy_body Dementia, Lewy Body GBA DOID:12217 myeloma, multiple myeloma_multiple Myeloma, Multiple CCND1 DOID:9538 tobacco addiction tobacco_addiction Tobacco Addiction GABBR2 DOID:0050742 leprosy 3 leprosy_3 Leprosy 3 TLR2 DOID:1024 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent PPARG DOID:9352 myocardial infarction myocardial_infarction Myocardial Infarction ITGB3 DOID:5844 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent IRS2 DOID:9352 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent HNF1A DOID:9352 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent ENPP1 DOID:9352 myocardial infarction myocardial_infarction Myocardial Infarction PSMA6 DOID:5844 graft-versus-host disease graft_versus_host_disease_2 Graft-Versus-Host Disease IL10 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent TCF7L2 DOID:9352 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent PTPN1 DOID:9352 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic IL4R myocardial infarction myocardial_infarction Myocardial Infarction GCLC DOID:5844 uric acid concentration, serum, quantitative trait locus 1 uric_acid_concentration_serum_quantitative_trait_locus_1 Uric Acid Concentration, Serum, Quantitative Trait Locus 1 ABCG2 skin/hair/eye pigmentation, variation in, 5 skin_hair_eye_pigmentation_variation_in_5 Skin/hair/eye Pigmentation, Variation in, 5 SLC45A2 uric acid concentration, serum, quantitative trait locus 4 uric_acid_concentration_serum_quantitative_trait_locus_4 Uric Acid Concentration, Serum, Quantitative Trait Locus 4 SLC17A3 bilirubin, serum level of, quantitative trait locus 1 bilirubin_serum_level_of_quantitative_trait_locus_1 Bilirubin, Serum Level of, Quantitative Trait Locus 1 UGT1A1 neural tube defects, folate-sensitive neural_tube_defects_folate_sensitive Neural Tube Defects, Folate-Sensitive MTR epileptic encephalopathy, early infantile, 21 epileptic_encephalopathy_early_infantile_21 Epileptic Encephalopathy, Early Infantile, 21 NECAP1 asperger syndrome, x-linked 2 asperger_syndrome_x_linked_2 Asperger Syndrome, X-Linked 2 NLGN4X macular degeneration, age-related, 8 macular_degeneration_age_related_8 Macular Degeneration, Age-Related, 8 ARMS2 DOID:0110020 asthma-related traits 7 asthma_related_traits_7 Asthma-Related Traits 7 CHI3L1 macular degeneration, age-related, 7 macular_degeneration_age_related_7 Macular Degeneration, Age-Related, 7 HTRA1 DOID:0110019 asthma-related traits 5 asthma_related_traits_5 Asthma-Related Traits 5 IRAK3 macular degeneration, age-related, 5 macular_degeneration_age_related_5_2 Macular Degeneration, Age-Related, 5 ERCC6 DOID:0110028 asthma-related traits 1 asthma_related_traits_1 Asthma-Related Traits 1 PTGDR asthma-related traits 2 asthma_related_traits_2 Asthma-Related Traits 2 NPSR1 microvascular complications of diabetes 4 microvascular_complications_of_diabetes_4 Microvascular Complications of Diabetes 4 IL1RN melanoma, cutaneous malignant 9 melanoma_cutaneous_malignant_9_2 Melanoma, Cutaneous Malignant 9 TERT diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent LIPC DOID:9352 autism x-linked 4 autism_x_linked_4 Autism X-Linked 4 PTCHD1 basal cell carcinoma 7 basal_cell_carcinoma_7 Basal Cell Carcinoma 7 TP53 inflammatory bowel disease 14 inflammatory_bowel_disease_14 Inflammatory Bowel Disease 14 IRF5 DOID:0110895 pregnancy loss, recurrent 3 pregnancy_loss_recurrent_3 Pregnancy Loss, Recurrent 3 ANXA5 coronary heart disease 6 coronary_heart_disease_6 Coronary Heart Disease 6 MMP3 smoking as a quantitative trait locus 3 smoking_as_a_quantitative_trait_locus_3 Smoking As a Quantitative Trait Locus 3 CHRNA3 smoking as a quantitative trait locus 3 smoking_as_a_quantitative_trait_locus_3 Smoking As a Quantitative Trait Locus 3 CHRNA5 intervertebral disc disease intervertebral_disc_disease Intervertebral Disc Disease THBS2 diabetes mellitus, insulin-dependent, 5 diabetes_mellitus_insulin_dependent_5 Diabetes Mellitus, Insulin-Dependent, 5 SUMO4 hemorrhage, intracerebral hemorrhage_intracerebral Hemorrhage, Intracerebral COL4A2 multiple sclerosis 5 multiple_sclerosis_5 Multiple Sclerosis 5 TNFRSF1A alzheimer disease 9 alzheimer_disease_9 Alzheimer Disease 9 ABCA7 major affective disorder 7 major_affective_disorder_7_2 Major Affective Disorder 7 XBP1 autism 19 autism_19 Autism 19 EIF4E schizophrenia 9 schizophrenia_9 Schizophrenia 9 DISC1 DOID:0070085 glucocorticoid therapy, response to glucocorticoid_therapy_response_to Glucocorticoid Therapy, Response to GLCCI1 glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 TP53 autoimmune disease 1 autoimmune_disease_1 Autoimmune Disease 1 FOXD3 deafness, autosomal recessive 12 deafness_autosomal_recessive_12 Deafness, Autosomal Recessive 12 ATP2B2 DOID:0110467 thiourea tasting thiourea_tasting Thiourea Tasting TAS2R38 hypertension, diastolic hypertension_diastolic Hypertension, Diastolic KCNMB1 glaucoma 3, primary congenital, a glaucoma_3_primary_congenital_a Glaucoma 3, Primary Congenital, a MYOC DOID:11211 leprosy 5 leprosy_5 Leprosy 5 TLR1 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 TLR3 aspergillosis aspergillosis Aspergillosis CLEC7A DOID:13564 alcohol dependence alcohol_dependence Alcohol Dependence GABRA2 DOID:0050741 lung cancer lung_cancer Lung Cancer ERCC6 DOID:3908 epileptic encephalopathy, early infantile, 6 epileptic_encephalopathy_early_infantile_6 Epileptic Encephalopathy, Early Infantile, 6 SCN9A DOID:0060171 melioidosis melioidosis Melioidosis TLR5 DOID:5052 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent PDX1 DOID:9352 pheochromocytoma pheochromocytoma Pheochromocytoma GDNF body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 ADRB2 DOID:9970 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset TBP DOID:14330 chitotriosidase deficiency chitotriosidase_deficiency Chitotriosidase Deficiency CHIT1 breast cancer breast_cancer Breast Cancer HMMR DOID:3459 bombay phenotype bombay_phenotype Bombay Phenotype FUT1 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 ENPP1 DOID:9970 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CCL11 gallbladder disease 4 gallbladder_disease_4 Gallbladder Disease 4 ABCG8 myocardial infarction myocardial_infarction Myocardial Infarction ESR1 DOID:5844 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CD209 myocardial infarction myocardial_infarction Myocardial Infarction GCLM DOID:5844 alzheimer disease alzheimer_disease Alzheimer Disease MPO DOID:10652 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 CARTPT DOID:9970 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 HLA-C anxiety anxiety Anxiety SLC6A4 DOID:2030 hypertension, essential hypertension_essential Hypertension, Essential AGTR1 DOID:10825 hepatitis c virus hepatitis_c_virus Hepatitis C Virus IFNL3 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset ATXN2 DOID:14330 tobacco addiction tobacco_addiction Tobacco Addiction CHRNA4 DOID:0050742 major depressive disorder major_depressive_disorder Major Depressive Disorder FKBP5 DOID:1470 alzheimer disease alzheimer_disease Alzheimer Disease NOS3 DOID:10652 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CCL2 von hippel-lindau syndrome von_hippel_lindau_syndrome Von Hippel-Lindau Syndrome CCND1 DOID:14175 hepatitis c virus hepatitis_c_virus Hepatitis C Virus CCR5 long qt syndrome 2 long_qt_syndrome_2 Long Qt Syndrome 2 ALG10 DOID:0110645 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent HMGA1 DOID:9352 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent IGF2BP2 DOID:9352 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CX3CR1 asthma asthma Asthma PLA2G7 DOID:2841 high density lipoprotein cholesterol level quantitative trait locus 6 high_density_lipoprotein_cholesterol_level_quantitative_trait_locus_6 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 SCARB1 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial APOA2 DOID:13810 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent MTNR1B DOID:9352 stroke, ischemic stroke_ischemic Stroke, Ischemic PRKCH DOID:3526 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 IL4R colorectal cancer colorectal_cancer Colorectal Cancer AKT1 DOID:9256 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic MS4A2 hypertension, essential hypertension_essential Hypertension, Essential ECE1 DOID:10825 systemic lupus erythematosus 9 systemic_lupus_erythematosus_9 Systemic Lupus Erythematosus 9 CR2 neural tube defects, folate-sensitive neural_tube_defects_folate_sensitive Neural Tube Defects, Folate-Sensitive MTRR body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 UCP1 DOID:9970 macular degeneration, age-related, 12 macular_degeneration_age_related_12 Macular Degeneration, Age-Related, 12 CX3CR1 DOID:0110024 fanconi anemia, complementation group u fanconi_anemia_complementation_group_u_2 Fanconi Anemia, Complementation Group U XRCC2 DOID:0111085 migraine with or without aura 13 migraine_with_or_without_aura_13_2 Migraine with or Without Aura 13 KCNK18 transferrin serum level quantitative trait locus 2 transferrin_serum_level_quantitative_trait_locus_2 Transferrin Serum Level Quantitative Trait Locus 2 HFE sodium serum level quantitative trait locus 1 sodium_serum_level_quantitative_trait_locus_1 Sodium Serum Level Quantitative Trait Locus 1 TRPV4 coronary heart disease 7 coronary_heart_disease_7 Coronary Heart Disease 7 CD36 cardiomyopathy, dilated, 1m cardiomyopathy_dilated_1m Cardiomyopathy, Dilated, 1m CSRP3 DOID:0110449 memory quantitative trait locus memory_quantitative_trait_locus Memory Quantitative Trait Locus WWC1 camptosynpolydactyly, complex camptosynpolydactyly_complex Camptosynpolydactyly, Complex BHLHA9 beta-aminoisobutyric aciduria beta_aminoisobutyric_aciduria Beta-Aminoisobutyric Aciduria AGXT2 macular degeneration, age-related, 1 macular_degeneration_age_related_1 Macular Degeneration, Age-Related, 1 APOE DOID:4448 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 AGRP DOID:9970 dyslexia 1 dyslexia_1 Dyslexia 1 DNAAF4 porphyria variegata porphyria_variegata Porphyria Variegata HFE DOID:4346 protein z deficiency protein_z_deficiency Protein Z Deficiency PROZ albinism, oculocutaneous, type ii albinism_oculocutaneous_type_ii Albinism, Oculocutaneous, Type Ii MC1R DOID:0070096 alcohol sensitivity, acute alcohol_sensitivity_acute Alcohol Sensitivity, Acute ALDH2 arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain IL6 DOID:0060688 asthma, nasal polyps, and aspirin intolerance asthma_nasal_polyps_and_aspirin_intolerance Asthma, Nasal Polyps, and Aspirin Intolerance TBX21 asthma, nasal polyps, and aspirin intolerance asthma_nasal_polyps_and_aspirin_intolerance Asthma, Nasal Polyps, and Aspirin Intolerance PTGER2 autoimmune thyroid disease 3 autoimmune_thyroid_disease_3 Autoimmune Thyroid Disease 3 ZFAT bacteremia 2 bacteremia_2 Bacteremia 2 CISH chromosome 2p16.3 deletion syndrome chromosome_2p163_deletion_syndrome Chromosome 2p16.3 Deletion Syndrome NRXN1 deafness, aminoglycoside-induced deafness_aminoglycoside_induced Deafness, Aminoglycoside-Induced TRMU encephalopathy, acute, infection-induced 1 encephalopathy_acute_infection_induced_1 Encephalopathy, Acute, Infection-Induced 1 UNC93B1 hemorrhage, intracerebral hemorrhage_intracerebral Hemorrhage, Intracerebral ACE hepatitis c virus hepatitis_c_virus Hepatitis C Virus PTPRC hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial PPP1R17 DOID:13810 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial ITIH4 DOID:13810 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial EPHX2 DOID:13810 hypertension, essential hypertension_essential Hypertension, Essential CYP3A5 DOID:10825 inflammatory bowel disease 1 inflammatory_bowel_disease_1 Inflammatory Bowel Disease 1 IL6 DOID:0110892 invasive pneumococcal disease, recurrent isolated, 1 invasive_pneumococcal_disease_recurrent_isolated_1 Invasive Pneumococcal Disease, Recurrent Isolated, 1 TIRAP macular degeneration, age-related, 14 macular_degeneration_age_related_14 Macular Degeneration, Age-Related, 14 C2 DOID:0110026 myeloma, multiple myeloma_multiple Myeloma, Multiple LIG4 DOID:9538 nephrolithiasis, uric acid nephrolithiasis_uric_acid Nephrolithiasis, Uric Acid ZNF365 neural tube defects neural_tube_defects Neural Tube Defects CCL2 DOID:0080074 skin/hair/eye pigmentation, variation in, 2 skin_hair_eye_pigmentation_variation_in_2 Skin/hair/eye Pigmentation, Variation in, 2 MC1R tuberous sclerosis 2 tuberous_sclerosis_2 Tuberous Sclerosis 2 IFNG usher syndrome, type iia usher_syndrome_type_iia Usher Syndrome, Type Iia PDZD7 DOID:0110838 schizophrenia schizophrenia Schizophrenia SYN2 DOID:5419 breast cancer breast_cancer Breast Cancer PPM1D DOID:3459 macular degeneration, age-related, 1 macular_degeneration_age_related_1 Macular Degeneration, Age-Related, 1 CFHR3 DOID:4448 hypertension, essential hypertension_essential Hypertension, Essential NOS3 DOID:10825 alzheimer disease alzheimer_disease Alzheimer Disease HFE DOID:10652 hemochromatosis, type 1 hemochromatosis_type_1_2 Hemochromatosis, Type 1 BMP2 DOID:2352 tobacco addiction tobacco_addiction Tobacco Addiction CYP2A6 DOID:0050742 myocardial infarction myocardial_infarction Myocardial Infarction F13A1 DOID:5844 ovarian cancer ovarian_cancer Ovarian Cancer AKT1 DOID:2394 meningioma, familial meningioma_familial Meningioma, Familial PTEN DOID:4586 celiac disease 1 celiac_disease_1 Celiac Disease 1 HLA-DQB1 DOID:10608 neural tube defects neural_tube_defects Neural Tube Defects FUZ DOID:0080074 stroke, ischemic stroke_ischemic Stroke, Ischemic ALOX5AP DOID:3526 fasting plasma glucose level quantitative trait locus 5 fasting_plasma_glucose_level_quantitative_trait_locus_5 Fasting Plasma Glucose Level Quantitative Trait Locus 5 GCKR alcohol dependence alcohol_dependence Alcohol Dependence HTR2A DOID:0050741 increased analgesia from kappa-opioid receptor agonist, female-specific increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific Increased Analgesia from Kappa-Opioid Receptor Agonist, Female-Specific MC1R skin/hair/eye pigmentation, variation in, 10 skin_hair_eye_pigmentation_variation_in_10 Skin/hair/eye Pigmentation, Variation in, 10 TPCN2 skin/hair/eye pigmentation, variation in, 1 skin_hair_eye_pigmentation_variation_in_1 Skin/hair/eye Pigmentation, Variation in, 1 HERC2 skin/hair/eye pigmentation, variation in, 11 skin_hair_eye_pigmentation_variation_in_11 Skin/hair/eye Pigmentation, Variation in, 11 TYRP1 skin/hair/eye pigmentation, variation in, 8 skin_hair_eye_pigmentation_variation_in_8 Skin/hair/eye Pigmentation, Variation in, 8 IRF4 skin/hair/eye pigmentation, variation in, 9 skin_hair_eye_pigmentation_variation_in_9 Skin/hair/eye Pigmentation, Variation in, 9 ASIP blood group, dombrock system blood_group_dombrock_system Blood Group, Dombrock System ART4 soluble interleukin-6 receptor, serum level of, quantitative trait locus soluble_interleukin_6_receptor_serum_level_of_quantitative_trait_locus Soluble Interleukin-6 Receptor, Serum Level of, Quantitative Trait Locus IL6R schizophrenia schizophrenia Schizophrenia CHI3L1 DOID:5419 diabetes mellitus, insulin-dependent, 22 diabetes_mellitus_insulin_dependent_22 Diabetes Mellitus, Insulin-Dependent, 22 CCR5 DOID:0110759 low density lipoprotein cholesterol level quantitative trait locus 6 low_density_lipoprotein_cholesterol_level_quantitative_trait_locus_6 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 SORT1 diabetes mellitus, insulin-dependent, 12 diabetes_mellitus_insulin_dependent_12 Diabetes Mellitus, Insulin-Dependent, 12 CTLA4 apocrine gland secretion, variation in apocrine_gland_secretion_variation_in Apocrine Gland Secretion, Variation in ABCC11 diabetes mellitus, insulin-dependent, 10 diabetes_mellitus_insulin_dependent_10_2 Diabetes Mellitus, Insulin-Dependent, 10 IL2RA blood group--wright antigen blood_group_wright_antigen Blood Group--Wright Antigen SLC4A1 interleukin 6, serum level of, quantitative trait locus interleukin_6_serum_level_of_quantitative_trait_locus Interleukin 6, Serum Level of, Quantitative Trait Locus IL6R blood group, gerbich system blood_group_gerbich_system Blood Group, Gerbich System GYPC systemic lupus erythematosus 6 systemic_lupus_erythematosus_6 Systemic Lupus Erythematosus 6 ITGAM webb-dattani syndrome webb_dattani_syndrome Webb-Dattani Syndrome ARNT2 c3hex, ability to smell c3hex_ability_to_smell C3hex, Ability to Smell OR2J3 systemic lupus erythematosus 1 systemic_lupus_erythematosus_1 Systemic Lupus Erythematosus 1 TLR5 systemic lupus erythematosus 2 systemic_lupus_erythematosus_2 Systemic Lupus Erythematosus 2 PDCD1 tremor, hereditary essential, 1 tremor_hereditary_essential_1_2 Tremor, Hereditary Essential, 1 DRD3 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome NDN DOID:11983 glaucoma, normal tension glaucoma_normal_tension Glaucoma, Normal Tension OPA1 kallikrein, decreased urinary activity of kallikrein_decreased_urinary_activity_of Kallikrein, Decreased Urinary Activity of KLK1 eculizumab, poor response to eculizumab_poor_response_to Eculizumab, Poor Response to C5 raph blood group system raph_blood_group_system Raph Blood Group System CD151 glycerol quantitative trait locus glycerol_quantitative_trait_locus Glycerol Quantitative Trait Locus AQP7 glaucoma, normal tension glaucoma_normal_tension Glaucoma, Normal Tension OPTN parkinson-dementia syndrome parkinson_dementia_syndrome Parkinson-Dementia Syndrome MAPT blood group, i system blood_group_i_system Blood Group, I System GCNT2 hair morphology 1 hair_morphology_1 Hair Morphology 1 EDAR short sleeper short_sleeper Short Sleeper BHLHE41 resting heart rate, variation in resting_heart_rate_variation_in Resting Heart Rate, Variation in ADRB1 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 POMC DOID:9970 severe cutaneous adverse reaction severe_cutaneous_adverse_reaction Severe Cutaneous Adverse Reaction HLA-A DOID:0050426 osteoporosis osteoporosis Osteoporosis PDLIM4 DOID:11476 aplastic anemia aplastic_anemia Aplastic Anemia NBN DOID:12449 osteogenic sarcoma osteogenic_sarcoma Osteogenic Sarcoma RB1 DOID:3347 macular degeneration, age-related, 1 macular_degeneration_age_related_1 Macular Degeneration, Age-Related, 1 CFHR1 DOID:4448 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CCL3L1 myocardial infarction myocardial_infarction Myocardial Infarction TNFSF4 DOID:5844 endometrial cancer endometrial_cancer Endometrial Cancer CDH1 DOID:2871 colorectal cancer colorectal_cancer Colorectal Cancer CCND1 DOID:9256 iminoglycinuria iminoglycinuria Iminoglycinuria SLC6A20 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CXCR1 stroke, ischemic stroke_ischemic Stroke, Ischemic NOS3 DOID:3526 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial ABCA1 DOID:13810 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome SNRPN DOID:11983 medulloblastoma medulloblastoma Medulloblastoma PTCH2 DOID:0050902 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 IFNG body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 PPARGC1B DOID:9970 ovarian cancer ovarian_cancer Ovarian Cancer CDH1 DOID:2394 celiac disease 1 celiac_disease_1 Celiac Disease 1 HLA-DQA1 DOID:10608 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary HNF1B DOID:4450 mast cell disease mast_cell_disease Mast Cell Disease KIT DOID:350 brugada syndrome 8 brugada_syndrome_8 Brugada Syndrome 8 HCN4 DOID:0110225 colorectal cancer colorectal_cancer Colorectal Cancer SRC DOID:9256 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 SDC3 DOID:9970 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 SLC6A14 DOID:9970 pheochromocytoma pheochromocytoma Pheochromocytoma KIF1B bacteremia 1 bacteremia_1 Bacteremia 1 TIRAP blood group--kell system blood_group_kell_system Blood Group--Kell System KEL blood group--swann system blood_group_swann_system Blood Group--Swann System SLC4A1 blood group, colton system blood_group_colton_system Blood Group, Colton System AQP1 blood group, cromer system blood_group_cromer_system Blood Group, Cromer System CD55 blood group, diego system blood_group_diego_system_2 Blood Group, Diego System SLC4A1 blood group, globoside system blood_group_globoside_system Blood Group, Globoside System B3GALNT1 DOID:1242 blood group, john milton hagen system blood_group_john_milton_hagen_system Blood Group, John Milton Hagen System SEMA7A blood group, kidd system blood_group_kidd_system_2 Blood Group, Kidd System SLC14A1 creutzfeldt-jakob disease creutzfeldt_jakob_disease Creutzfeldt-Jakob Disease HLA-DQB1 DOID:5435 diabetes mellitus, noninsulin-dependent, 1 diabetes_mellitus_noninsulin_dependent_1_2 Diabetes Mellitus, Noninsulin-Dependent, 1 CAPN10 epiphyseal dysplasia, multiple, 6 epiphyseal_dysplasia_multiple_6 Epiphyseal Dysplasia, Multiple, 6 COL9A1 gastric cancer, hereditary diffuse gastric_cancer_hereditary_diffuse Gastric Cancer, Hereditary Diffuse IL1RN gastric cancer, hereditary diffuse gastric_cancer_hereditary_diffuse Gastric Cancer, Hereditary Diffuse IL1B glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 IDH1 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial GHR DOID:13810 hypothalamic hamartomas hypothalamic_hamartomas Hypothalamic Hamartomas GLI3 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic PLA2G7 intervertebral disc disease intervertebral_disc_disease Intervertebral Disc Disease COL11A1 leprosy 2 leprosy_2 Leprosy 2 PRKN leprosy 4 leprosy_4 Leprosy 4 LTA macular degeneration, age-related, 14 macular_degeneration_age_related_14 Macular Degeneration, Age-Related, 14 CFB DOID:0110026 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset ADH1C DOID:14330 skin/hair/eye pigmentation, variation in, 6 skin_hair_eye_pigmentation_variation_in_6 Skin/hair/eye Pigmentation, Variation in, 6 SLC24A4 skin/hair/eye pigmentation, variation in, 7 skin_hair_eye_pigmentation_variation_in_7 Skin/hair/eye Pigmentation, Variation in, 7 KITLG meningioma, familial meningioma_familial Meningioma, Familial MN1 DOID:4586 heinz body anemias heinz_body_anemias Heinz Body Anemias HBA1 cardiomyopathy, dilated, 1bb cardiomyopathy_dilated_1bb Cardiomyopathy, Dilated, 1bb DSG2 DOID:0110458 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome FOXRED1 DOID:3652 hyperglycinuria hyperglycinuria Hyperglycinuria SLC6A20 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome TET2 DOID:0050908 neuroblastoma neuroblastoma Neuroblastoma NME1 DOID:769 central hypoventilation syndrome, congenital central_hypoventilation_syndrome_congenital Central Hypoventilation Syndrome, Congenital GDNF DOID:0060731 bronchiectasis with or without elevated sweat chloride 3 bronchiectasis_with_or_without_elevated_sweat_chloride_3 Bronchiectasis with or Without Elevated Sweat Chloride 3 SCNN1G plasma triglyceride level quantitative trait locus plasma_triglyceride_level_quantitative_trait_locus Plasma Triglyceride Level Quantitative Trait Locus ANGPTL4 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary OGG1 DOID:4450 hypoplastic left heart syndrome 2 hypoplastic_left_heart_syndrome_2 Hypoplastic Left Heart Syndrome 2 NKX2-5 vacterl association with hydrocephalus vacterl_association_with_hydrocephalus Vacterl Association with Hydrocephalus PTEN cowden syndrome 2 cowden_syndrome_2 Cowden Syndrome 2 SDHB fucosyltransferase 6 deficiency fucosyltransferase_6_deficiency_2 Fucosyltransferase 6 Deficiency FUT6 cardiomyopathy, dilated, 1v cardiomyopathy_dilated_1v Cardiomyopathy, Dilated, 1v PSEN2 DOID:0110427 colorectal cancer colorectal_cancer Colorectal Cancer BUB1B DOID:9256 retinitis pigmentosa 30 retinitis_pigmentosa_30 Retinitis Pigmentosa 30 FSCN2 DOID:0110406 sarcoidosis 1 sarcoidosis_1 Sarcoidosis 1 HLA-DRB1 DOID:11335 chromosome 5q deletion syndrome chromosome_5q_deletion_syndrome Chromosome 5q Deletion Syndrome RPS14 DOID:0090016 coumarin resistance coumarin_resistance Coumarin Resistance CYP2A6 drug metabolism, poor, cyp2c19-related drug_metabolism_poor_cyp2c19_related Drug Metabolism, Poor, Cyp2c19-Related CYP2C19 nevus, epidermal nevus_epidermal Nevus, Epidermal PIK3CA DOID:0111162 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome ASXL1 DOID:0050908 colorectal cancer colorectal_cancer Colorectal Cancer ODC1 DOID:9256 porphyria cutanea tarda porphyria_cutanea_tarda Porphyria Cutanea Tarda HFE DOID:5230 pigmented nodular adrenocortical disease, primary, 2 pigmented_nodular_adrenocortical_disease_primary_2 Pigmented Nodular Adrenocortical Disease, Primary, 2 PDE11A heinz body anemias heinz_body_anemias Heinz Body Anemias HBA2 brugada syndrome 6 brugada_syndrome_6 Brugada Syndrome 6 KCNE3 DOID:0110223 candidiasis, familial, 4 candidiasis_familial_4 Candidiasis, Familial, 4 CLEC7A pancreatic agenesis 2 pancreatic_agenesis_2 Pancreatic Agenesis 2 PTF1A beta-thalassemia beta_thalassemia_2 Beta-Thalassemia HBB-LCR DOID:12241 schizencephaly schizencephaly Schizencephaly SHH usher syndrome, type iic usher_syndrome_type_iic Usher Syndrome, Type Iic PDZD7 DOID:0110839 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 SIM1 DOID:9970 lung cancer lung_cancer Lung Cancer MAP3K8 DOID:3908 diabetes mellitus, transient neonatal, 1 diabetes_mellitus_transient_neonatal_1 Diabetes Mellitus, Transient Neonatal, 1 HYMAI DOID:0060334 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 PRCC DOID:4465 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 CCDC28B DOID:0110123 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy LMNA DOID:12930 bone mineral density quantitative trait locus 16 bone_mineral_density_quantitative_trait_locus_16 Bone Mineral Density Quantitative Trait Locus 16 WNT1 paroxysmal nocturnal hemoglobinuria 2 paroxysmal_nocturnal_hemoglobinuria_2 Paroxysmal Nocturnal Hemoglobinuria 2 PIGT hypertriglyceridemia, familial hypertriglyceridemia_familial Hypertriglyceridemia, Familial APOA5 systemic lupus erythematosus 11 systemic_lupus_erythematosus_11 Systemic Lupus Erythematosus 11 STAT4 pregnancy loss, recurrent 1 pregnancy_loss_recurrent_1 Pregnancy Loss, Recurrent 1 F5 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary HNF1A DOID:4450 zellweger syndrome zellweger_syndrome Zellweger Syndrome PEX1 DOID:905 pulmonary hypertension pulmonary_hypertension Pulmonary Hypertension BMPR2 DOID:6432 colorectal cancer colorectal_cancer Colorectal Cancer TLR2 DOID:9256 bartter syndrome, type 4b, neonatal, with sensorineural deafness bartter_syndrome_type_4b_neonatal_with_sensorineural_deafness Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness CLCNKB DOID:0110146 carotid intimal medial thickness 1 carotid_intimal_medial_thickness_1 Carotid Intimal Medial Thickness 1 PPARG chromosome 16p12.1 deletion syndrome, 520-kb chromosome_16p121_deletion_syndrome_520_kb Chromosome 16p12.1 Deletion Syndrome, 520-Kb FRA16E DOID:0060399 efavirenz, poor metabolism of efavirenz_poor_metabolism_of Efavirenz, Poor Metabolism of CYP2B6 epidermolysis bullosa dystrophica, autosomal recessive epidermolysis_bullosa_dystrophica_autosomal_recessive Epidermolysis Bullosa Dystrophica, Autosomal Recessive MMP1 epilepsy, juvenile absence 1 epilepsy_juvenile_absence_1 Epilepsy, Juvenile Absence 1 EFHC1 erythrocytosis, familial, 1 erythrocytosis_familial_1 Erythrocytosis, Familial, 1 SH2B3 DOID:0060652 gastric cancer, hereditary diffuse gastric_cancer_hereditary_diffuse Gastric Cancer, Hereditary Diffuse KRAS histiocytoma, angiomatoid fibrous histiocytoma_angiomatoid_fibrous Histiocytoma, Angiomatoid Fibrous CREB1 lung cancer lung_cancer Lung Cancer PRKN DOID:3908 ventricular tachycardia, familial ventricular_tachycardia_familial Ventricular Tachycardia, Familial GNAI2 familial adenomatous polyposis familial_adenomatous_polyposis Familial Adenomatous Polyposis APC DOID:0050424 hypophosphatasia hypophosphatasia Hypophosphatasia ALPL DOID:14213 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid TERT DOID:9119 lutheran null lutheran_null Lutheran Null BCAM dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy TTN DOID:12930 colorectal cancer colorectal_cancer Colorectal Cancer AURKA DOID:9256 multiple sclerosis multiple_sclerosis Multiple Sclerosis PDCD1 DOID:2377 thiopurines, poor metabolism of, 2 thiopurines_poor_metabolism_of_2 Thiopurines, Poor Metabolism of, 2 NUDT15 thyrotoxic periodic paralysis 1 thyrotoxic_periodic_paralysis_1 Thyrotoxic Periodic Paralysis 1 CACNA1S legionnaire disease legionnaire_disease Legionnaire Disease TLR5 thiopurines, poor metabolism of, 1 thiopurines_poor_metabolism_of_1 Thiopurines, Poor Metabolism of, 1 TPMT DOID:0080172 psoriasis 1 psoriasis_1 Psoriasis 1 HLA-C cardiac conduction defect cardiac_conduction_defect Cardiac Conduction Defect AKAP10 cystic fibrosis cystic_fibrosis Cystic Fibrosis FCGR2A DOID:1485 epidermolysis bullosa dystrophica epidermolysis_bullosa_dystrophica Epidermolysis Bullosa Dystrophica COL7A1 DOID:4959 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy TNNT2 DOID:12930 prostate cancer prostate_cancer Prostate Cancer MSR1 DOID:10286 epilepsy, idiopathic generalized 10 epilepsy_idiopathic_generalized_10_2 Epilepsy, Idiopathic Generalized 10 EFHC1 DOID:4890 chromosome 16p13.3 deletion syndrome, proximal chromosome_16p133_deletion_syndrome_proximal Chromosome 16p13.3 Deletion Syndrome, Proximal CREBBP DOID:1933 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy DES DOID:12930 pulmonary fibrosis, idiopathic pulmonary_fibrosis_idiopathic Pulmonary Fibrosis, Idiopathic TERT DOID:0050156 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy MYBPC3 DOID:12930 bone mineral density quantitative trait locus 17 bone_mineral_density_quantitative_trait_locus_17 Bone Mineral Density Quantitative Trait Locus 17 LGR4 thrombophilia due to thrombin defect thrombophilia_due_to_thrombin_defect Thrombophilia Due to Thrombin Defect MTHFR colorectal cancer colorectal_cancer Colorectal Cancer PLA2G2A DOID:9256 radin blood group antigen radin_blood_group_antigen Radin Blood Group Antigen ERMAP juvenile retinoschisis juvenile_retinoschisis Juvenile Retinoschisis RS1 mitochondrial complex iii deficiency mitochondrial_complex_iii_deficiency Mitochondrial Complex Iii Deficiency BCS1L DOID:0111139 giant axonal neuropathy giant_axonal_neuropathy Giant Axonal Neuropathy GAN acetylation, slow acetylation_slow Acetylation, Slow NAT2 amyotrophic lateral sclerosis 24 amyotrophic_lateral_sclerosis_24 Amyotrophic Lateral Sclerosis 24 NEK1 amyotrophic lateral sclerosis 25 amyotrophic_lateral_sclerosis_25 Amyotrophic Lateral Sclerosis 25 KIF5A beta-glucopyranoside tasting beta_glucopyranoside_tasting Beta-Glucopyranoside Tasting TAS2R16 blepharospasm, benign essential blepharospasm_benign_essential Blepharospasm, Benign Essential DRD5 body mass index quantitative trait locus 19 body_mass_index_quantitative_trait_locus_19 Body Mass Index Quantitative Trait Locus 19 ADCY3 encephalopathy, acute, infection-induced 8 encephalopathy_acute_infection_induced_8 Encephalopathy, Acute, Infection-Induced 8 TBK1 epilepsy, juvenile myoclonic 10 epilepsy_juvenile_myoclonic_10 Epilepsy, Juvenile Myoclonic 10 ICK influenza, severe influenza_severe Influenza, Severe IFITM3 mucopolysaccharidosis iv mucopolysaccharidosis_iv Mucopolysaccharidosis Iv GALNS DOID:12804 spastic paraplegia 10 spastic_paraplegia_10 Spastic Paraplegia 10 KIF5A paget's disease of bone pagets_disease_of_bone Paget's Disease of Bone SQSTM1 DOID:5408 miller-dieker lissencephaly syndrome miller_dieker_lissencephaly_syndrome Miller-Dieker Lissencephaly Syndrome PAFAH1B1 DOID:0060469 spastic paraplegia 15 spastic_paraplegia_15 Spastic Paraplegia 15 ZFYVE26 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial BCL10 DOID:0060060 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy RBM20 DOID:12930 multiple sclerosis multiple_sclerosis Multiple Sclerosis HLA-DRB1 DOID:2377 pseudohypoparathyroidism pseudohypoparathyroidism Pseudohypoparathyroidism GNAS DOID:4184 breast cancer breast_cancer Breast Cancer ERBB2 DOID:3459 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita TERC DOID:2729 thyroxine-binding globulin quantitative trait locus thyroxine_binding_globulin_quantitative_trait_locus Thyroxine-Binding Globulin Quantitative Trait Locus SERPINA7 multiple sclerosis multiple_sclerosis Multiple Sclerosis HLA-DQB1 DOID:2377 hemoglobin, high altitude adaptation hemoglobin_high_altitude_adaptation Hemoglobin, High Altitude Adaptation EGLN1 bone mineral density quantitative trait locus 15 bone_mineral_density_quantitative_trait_locus_15 Bone Mineral Density Quantitative Trait Locus 15 MIR2861 bone mineral density quantitative trait locus 12 bone_mineral_density_quantitative_trait_locus_12 Bone Mineral Density Quantitative Trait Locus 12 UGT2B17 charcot-marie-tooth disease, axonal, type 2k charcot_marie_tooth_disease_axonal_type_2k Charcot-Marie-Tooth Disease, Axonal, Type 2k JPH1 DOID:0110167 yt blood group antigen yt_blood_group_antigen Yt Blood Group Antigen ACHE body mass index quantitative trait locus 14 body_mass_index_quantitative_trait_locus_14 Body Mass Index Quantitative Trait Locus 14 FTO avascular necrosis of femoral head, primary, 2 avascular_necrosis_of_femoral_head_primary_2 Avascular Necrosis of Femoral Head, Primary, 2 TRPV4 impdh2 enzyme activity, variation in impdh2_enzyme_activity_variation_in Impdh2 Enzyme Activity, Variation in IMPDH2 blood group, p1pk system blood_group_p1pk_system Blood Group, P1pk System B3GALNT1 aniridia 2 aniridia_2 Aniridia 2 ELP4 ehlers-danlos syndrome, classic type ehlers_danlos_syndrome_classic_type Ehlers-Danlos Syndrome, Classic Type COL5A1 glucocorticoid deficiency 5 glucocorticoid_deficiency_5 Glucocorticoid Deficiency 5 TXNRD2 actn3 deficiency actn3_deficiency Actn3 Deficiency ACTN3 chordoma chordoma Chordoma CHDM DOID:3302 recessive dystrophic epidermolysis bullosa recessive_dystrophic_epidermolysis_bullosa Recessive Dystrophic Epidermolysis Bullosa COL7A1 DOID:0060642 ataxia with vitamin e deficiency ataxia_with_vitamin_e_deficiency Ataxia with Vitamin E Deficiency TTPA wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome wilms_tumor_aniridia_genitourinary_anomalies_and_mental_retardation_syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome WT1 DOID:14515 kartagener syndrome kartagener_syndrome Kartagener Syndrome DNAI1 DOID:0050144 spastic paraplegia 3 spastic_paraplegia_3 Spastic Paraplegia 3 ATL1 spastic paraplegia 5a spastic_paraplegia_5a Spastic Paraplegia 5a CYP7B1 mucopolysaccharidosis iii mucopolysaccharidosis_iii Mucopolysaccharidosis Iii NAGLU DOID:12801 osteochondrodysplasia osteochondrodysplasia Osteochondrodysplasia SLC26A2 DOID:2256 simpson-golabi-behmel syndrome simpson_golabi_behmel_syndrome Simpson-Golabi-Behmel Syndrome GPC3 DOID:0060248 protein s deficiency protein_s_deficiency Protein S Deficiency PROS1 DOID:2451 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia RARA DOID:0060318 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy PLN DOID:12930 otospondylomegaepiphyseal dysplasia otospondylomegaepiphyseal_dysplasia Otospondylomegaepiphyseal Dysplasia COL11A2 DOID:0080026 thrombocytopenia, paris-trousseau type thrombocytopenia_paris_trousseau_type Thrombocytopenia, Paris-Trousseau Type TCPT nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma TP53 DOID:9261 chromosome 16p11.2 duplication syndrome chromosome_16p112_duplication_syndrome Chromosome 16p11.2 Duplication Syndrome DUP16P11.2 DOID:0060430 thrombophilia thrombophilia Thrombophilia F2 DOID:2452 3-methylglutaconic aciduria 3_methylglutaconic_aciduria 3-Methylglutaconic Aciduria AUH DOID:0060336 cataract 30 cataract_30 Cataract 30 VIM DOID:0110248 wolf-hirschhorn syndrome wolf_hirschhorn_syndrome Wolf-Hirschhorn Syndrome NSD2 DOID:0050460 galactosemia galactosemia Galactosemia GALK1 DOID:9870 kleefstra syndrome kleefstra_syndrome Kleefstra Syndrome EHMT1 DOID:0070075 medium-chain acyl-coenzyme a dehydrogenase deficiency medium_chain_acyl_coenzyme_a_dehydrogenase_deficiency Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency ACADM thrombophilia due to thrombin defect thrombophilia_due_to_thrombin_defect Thrombophilia Due to Thrombin Defect HABP2 pten hamartoma tumor syndrome pten_hamartoma_tumor_syndrome Pten Hamartoma Tumor Syndrome PTEN DOID:0080191 hyperinsulinemic hypoglycemia hyperinsulinemic_hypoglycemia Hyperinsulinemic Hypoglycemia KCNJ11 DOID:13317 brittle bone disorder brittle_bone_disorder Brittle Bone Disorder COL1A1 DOID:12347 3mc syndrome 3mc_syndrome 3mc Syndrome COLEC11 DOID:0060225 robinow syndrome robinow_syndrome Robinow Syndrome WNT5A DOID:0060254 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive ectodermal_dysplasia_10b_hypohidrotic_hair_tooth_type_autosomal_recessive Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive EDA DOID:14793 homocystinuria due to cbs deficiency homocystinuria_due_to_cbs_deficiency Homocystinuria Due to Cbs Deficiency CBS peeling skin syndrome peeling_skin_syndrome Peeling Skin Syndrome CDSN DOID:0060283 charcot-marie-tooth disease type 2c charcot_marie_tooth_disease_type_2c Charcot-Marie-Tooth Disease Type 2c TRPV4 infantile-onset ascending hereditary spastic paralysis infantile_onset_ascending_hereditary_spastic_paralysis Infantile-Onset Ascending Hereditary Spastic Paralysis ALS2 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome KCNQ1 DOID:5572 spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations COL2A1 DOID:0050813 charcot-marie-tooth disease type 2f charcot_marie_tooth_disease_type_2f Charcot-Marie-Tooth Disease Type 2f HSPB1 x-linked charcot-marie-tooth disease x_linked_charcot_marie_tooth_disease X-Linked Charcot-Marie-Tooth Disease GJB1 charcot-marie-tooth disease type 2k charcot_marie_tooth_disease_type_2k Charcot-Marie-Tooth Disease Type 2k GDAP1 megalocornea megalocornea Megalocornea CHRDL1 DOID:0060305 trichorhinophalangeal syndrome, type ii trichorhinophalangeal_syndrome_type_ii_2 Trichorhinophalangeal Syndrome, Type Ii EXT1 DOID:4998 ehlers-danlos syndrome, classic type ehlers_danlos_syndrome_classic_type Ehlers-Danlos Syndrome, Classic Type COL1A1 lynch syndrome i lynch_syndrome_i Lynch Syndrome I MLH1 mutyh-associated polyposis mutyh_associated_polyposis Mutyh-Associated Polyposis MUTYH leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid CHIC2 DOID:9119 kallmann syndrome 3 kallmann_syndrome_3 Kallmann Syndrome 3 PROKR2 familial porphyria cutanea tarda familial_porphyria_cutanea_tarda Familial Porphyria Cutanea Tarda UROD diffuse mesangial sclerosis diffuse_mesangial_sclerosis Diffuse Mesangial Sclerosis WT1 inclusion body myositis inclusion_body_myositis Inclusion Body Myositis GNE DOID:3429 deafness-infertility syndrome deafness_infertility_syndrome Deafness-Infertility Syndrome CATSPER2 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy BAG3 DOID:12930 hydrocephalus hydrocephalus Hydrocephalus CCDC88C DOID:10908 blood group system, landsteiner-wiener blood_group_system_landsteiner_wiener Blood Group System, Landsteiner-Wiener ICAM4 blood group, chido/rodgers system blood_group_chido_rodgers_system Blood Group, Chido/rodgers System C4A blood group, langereis system blood_group_langereis_system Blood Group, Langereis System ABCB6 blood group, p1pk system blood_group_p1pk_system Blood Group, P1pk System A4GALT blood group, vel system blood_group_vel_system Blood Group, Vel System SMIM1 chromosome 14q32 duplication syndrome, 700-kb chromosome_14q32_duplication_syndrome_700_kb Chromosome 14q32 Duplication Syndrome, 700-Kb DUP14Q32 chromosome 16p11.2 deletion syndrome, 220-kb chromosome_16p112_deletion_syndrome_220_kb Chromosome 16p11.2 Deletion Syndrome, 220-Kb BMIQ16 DOID:0060398 chromosome 16p11.2 deletion syndrome, 593-kb chromosome_16p112_deletion_syndrome_593_kb Chromosome 16p11.2 Deletion Syndrome, 593-Kb DEL16P11.2 deafness, autosomal recessive 109 deafness_autosomal_recessive_109 Deafness, Autosomal Recessive 109 ESRP1 drug metabolism, poor, cyp2d6-related drug_metabolism_poor_cyp2d6_related Drug Metabolism, Poor, Cyp2d6-Related CYP2D6 low density lipoprotein cholesterol level quantitative trait locus 7 low_density_lipoprotein_cholesterol_level_quantitative_trait_locus_7 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 NPC1L1 megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic_leukoencephalopathy_with_subcortical_cysts_1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 HEPACAM melanocytic nevus syndrome, congenital melanocytic_nevus_syndrome_congenital Melanocytic Nevus Syndrome, Congenital HRAS polyposis syndrome, hereditary mixed, 1 polyposis_syndrome_hereditary_mixed_1 Polyposis Syndrome, Hereditary Mixed, 1 GREM1 premature ovarian failure 14 premature_ovarian_failure_14 Premature Ovarian Failure 14 GDF9 thrombophilia due to thrombin defect thrombophilia_due_to_thrombin_defect Thrombophilia Due to Thrombin Defect F13A1 tumoral calcinosis, hyperphosphatemic, familial, 3 tumoral_calcinosis_hyperphosphatemic_familial_3 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 KL hereditary multiple exostoses hereditary_multiple_exostoses Hereditary Multiple Exostoses EXT1 DOID:206 dyserythropoietic anemia and thrombocytopenia dyserythropoietic_anemia_and_thrombocytopenia Dyserythropoietic Anemia and Thrombocytopenia GATA1 spastic paraplegia 6 spastic_paraplegia_6 Spastic Paraplegia 6 NIPA1 renal hypodysplasia/aplasia 1 renal_hypodysplasia_aplasia_1 Renal Hypodysplasia/aplasia 1 RET DOID:14766 xeroderma pigmentosum group e xeroderma_pigmentosum_group_e Xeroderma Pigmentosum Group E DDB2 DOID:0110846 colorectal cancer colorectal_cancer Colorectal Cancer KRAS DOID:9256 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion MYH7 DOID:0080102 spastic paraplegia 13 spastic_paraplegia_13 Spastic Paraplegia 13 HSPD1 spastic paraplegia 12 spastic_paraplegia_12 Spastic Paraplegia 12 RTN2 spastic paraplegia 18 spastic_paraplegia_18 Spastic Paraplegia 18 ERLIN2 hypermethioninemia hypermethioninemia Hypermethioninemia MAT1A DOID:0050544 fragile x syndrome fragile_x_syndrome Fragile X Syndrome AFF2 DOID:14261 spastic paraplegia 17 spastic_paraplegia_17 Spastic Paraplegia 17 BSCL2 amyotrophic lateral sclerosis type 6 amyotrophic_lateral_sclerosis_type_6 Amyotrophic Lateral Sclerosis Type 6 FUS DOID:0060198 multiple mitochondrial dysfunctions syndrome 2 multiple_mitochondrial_dysfunctions_syndrome_2 Multiple Mitochondrial Dysfunctions Syndrome 2 BOLA3 DOID:0080134 silver-russell syndrome silver_russell_syndrome Silver-Russell Syndrome IGF2 DOID:14681 dnm2-related intermediate charcot-marie-tooth neuropathy dnm2_related_intermediate_charcot_marie_tooth_neuropathy Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy DNM2 pyridoxal 5'-phosphate-dependent epilepsy pyridoxal_5_phosphate_dependent_epilepsy Pyridoxal 5'-Phosphate-Dependent Epilepsy PNPO dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita WRAP53 DOID:2729 orofaciodigital syndrome orofaciodigital_syndrome Orofaciodigital Syndrome OFD1 DOID:4501 pulmonary venoocclusive disease pulmonary_venoocclusive_disease Pulmonary Venoocclusive Disease BMPR2 DOID:5453 inclusion body myopathy with early-onset paget disease and frontotemporal dementia inclusion_body_myopathy_with_early_onset_paget_disease_and_frontotemporal_dementia Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia VCP osteochondritis dissecans osteochondritis_dissecans Osteochondritis Dissecans ACAN DOID:84 generalized epilepsy with febrile seizures plus, type 1 generalized_epilepsy_with_febrile_seizures_plus_type_1 Generalized Epilepsy with Febrile Seizures Plus, Type 1 SCN1A nephrotic syndrome, idiopathic, steroid-resistant nephrotic_syndrome_idiopathic_steroid_resistant Nephrotic Syndrome, Idiopathic, Steroid-Resistant NPHS2 methylmalonic acidemia with homocystinuria methylmalonic_acidemia_with_homocystinuria Methylmalonic Acidemia with Homocystinuria MMACHC renal dysplasia renal_dysplasia Renal Dysplasia ACE wfs1-related disorders wfs1_related_disorders Wfs1-Related Disorders WFS1 deafness, x-linked 2 deafness_x_linked_2 Deafness, X-Linked 2 GJB2 adult polyglucosan body disease adult_polyglucosan_body_disease Adult Polyglucosan Body Disease GBE1 jankovic rivera syndrome jankovic_rivera_syndrome Jankovic Rivera Syndrome ASAH1 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK neurodevelopmental disorder with or without seizures and gait abnormalities neurodevelopmental_disorder_with_or_without_seizures_and_gait_abnormalities Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities GRIA4 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 RPGRIP1L DOID:0110980 gnao1 encephalopathy gnao1_encephalopathy Gnao1 Encephalopathy GNAO1 early-onset generalized dystonia early_onset_generalized_dystonia Early-Onset Generalized Dystonia TOR1A protein-losing enteropathy protein_losing_enteropathy Protein-Losing Enteropathy CD55 DOID:10611 central congenital hypothyroidism central_congenital_hypothyroidism Central Congenital Hypothyroidism TSHB ehlers-danlos syndrome, classic type ehlers_danlos_syndrome_classic_type Ehlers-Danlos Syndrome, Classic Type COL5A2 dyskeratosis congenita autosomal dominant dyskeratosis_congenita_autosomal_dominant Dyskeratosis Congenita Autosomal Dominant TERT syndromic x-linked intellectual disability snyder type syndromic_x_linked_intellectual_disability_snyder_type Syndromic X-Linked Intellectual Disability Snyder Type SMS DOID:0060802 diabetes mellitus, insulin-dependent diabetes_mellitus_insulin_dependent Diabetes Mellitus, Insulin-Dependent HNF1A DOID:9744 horizontal gaze palsy with progressive scoliosis horizontal_gaze_palsy_with_progressive_scoliosis Horizontal Gaze Palsy with Progressive Scoliosis ROBO3 wagner syndrome wagner_syndrome Wagner Syndrome VCAN cerebro-oculo-facio-skeletal syndrome cerebro_oculo_facio_skeletal_syndrome_cofs Cerebro-Oculo-Facio-Skeletal Syndrome ERCC6 geroderma osteodysplastica geroderma_osteodysplastica Geroderma Osteodysplastica GORAB growth hormone secreting pituitary adenoma growth_hormone_secreting_pituitary_adenoma Growth Hormone Secreting Pituitary Adenoma AIP DOID:6255 ventricular tachycardia, catecholaminergic polymorphic, 3 ventricular_tachycardia_catecholaminergic_polymorphic_3 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 TECRL DOID:0060677 north american indian childhood cirrhosis north_american_indian_childhood_cirrhosis North American Indian Childhood Cirrhosis UTP4 spastic paraplegia 8 spastic_paraplegia_8 Spastic Paraplegia 8 WASHC5 spondylocostal dysostosis 3 spondylocostal_dysostosis_3 Spondylocostal Dysostosis 3 LFNG christianson syndrome christianson_syndrome Christianson Syndrome SLC9A6 DOID:0060825 myxoid liposarcoma myxoid_liposarcoma Myxoid Liposarcoma DDIT3 DOID:5363 spastic paraplegia 26 spastic_paraplegia_26 Spastic Paraplegia 26 B4GALNT1 microcytic anemia microcytic_anemia Microcytic Anemia TMPRSS6 DOID:11252 aplasia cutis congenita aplasia_cutis_congenita Aplasia Cutis Congenita BMS1 afibrinogenemia afibrinogenemia Afibrinogenemia CFI gilles de la tourette syndrome gilles_de_la_tourette_syndrome Gilles De La Tourette Syndrome SLITRK1 DOID:11119 3mc syndrome 3mc_syndrome 3mc Syndrome MASP1 DOID:0060225 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy MYH6 DOID:12930 opitz-gbbb syndrome opitz_gbbb_syndrome Opitz-Gbbb Syndrome SPECC1L DOID:0050780 conn's syndrome conns_syndrome Conn's Syndrome GNAS DOID:446 3mc syndrome 3mc_syndrome 3mc Syndrome COLEC10 DOID:0060225 primary hypertrophic osteoarthropathy primary_hypertrophic_osteoarthropathy Primary Hypertrophic Osteoarthropathy HPGD DOID:14283 primary hypomagnesemia primary_hypomagnesemia Primary Hypomagnesemia CLDN16 DOID:0060879 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy TPM1 DOID:12930 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy LDB3 DOID:12930 brittle bone disorder brittle_bone_disorder Brittle Bone Disorder COL1A2 DOID:12347 pyogenic arthritis, pyoderma gangrenosum and acne pyogenic_arthritis_pyoderma_gangrenosum_and_acne Pyogenic Arthritis, Pyoderma Gangrenosum and Acne PSTPIP1 fraser syndrome 1 fraser_syndrome_1 Fraser Syndrome 1 FREM2 DOID:0090001 hypochromic microcytic anemia with iron overload hypochromic_microcytic_anemia_with_iron_overload Hypochromic Microcytic Anemia with Iron Overload SLC11A2 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive ectodermal_dysplasia_10b_hypohidrotic_hair_tooth_type_autosomal_recessive Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive EDARADD DOID:14793 dyskeratosis congenita autosomal dominant dyskeratosis_congenita_autosomal_dominant Dyskeratosis Congenita Autosomal Dominant TERC schinzel giedion syndrome schinzel_giedion_syndrome Schinzel Giedion Syndrome SETBP1 deafness with labyrinthine aplasia microtia and microdontia deafness_with_labyrinthine_aplasia_microtia_and_microdontia_lamm Deafness with Labyrinthine Aplasia Microtia and Microdontia FGF3 dominant dystrophic epidermolysis bullosa dominant_dystrophic_epidermolysis_bullosa Dominant Dystrophic Epidermolysis Bullosa COL7A1 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-ND5 spastic paraplegia 39 spastic_paraplegia_39 Spastic Paraplegia 39 PNPLA6 dyskeratosis congenita autosomal dominant dyskeratosis_congenita_autosomal_dominant Dyskeratosis Congenita Autosomal Dominant TINF2 ehlers-danlos syndrome progeroid type ehlers_danlos_syndrome_progeroid_type Ehlers-Danlos Syndrome Progeroid Type B3GALT6 DOID:0050802 3-beta-hydroxysteroid dehydrogenase deficiency 3_beta_hydroxysteroid_dehydrogenase_deficiency 3-Beta-Hydroxysteroid Dehydrogenase Deficiency HSD3B2 stocco dos santos syndrome stocco_dos_santos_syndrome Stocco Dos Santos Syndrome SHROOM4 spondylocostal dysostosis 2 spondylocostal_dysostosis_2 Spondylocostal Dysostosis 2 MESP2 spastic paraplegia 9 spastic_paraplegia_9 Spastic Paraplegia 9 ALDH18A1 chromosome 16p13.3 deletion syndrome, proximal chromosome_16p133_deletion_syndrome_proximal Chromosome 16p13.3 Deletion Syndrome, Proximal EP300 DOID:1933 chromosome xq28 deletion syndrome chromosome_xq28_deletion_syndrome Chromosome Xq28 Deletion Syndrome BCAP31 nakajo syndrome nakajo_syndrome Nakajo Syndrome PSMB8 kallmann syndrome 4 kallmann_syndrome_4 Kallmann Syndrome 4 PROK2 leukonychia totalis leukonychia_totalis Leukonychia Totalis PLCD1 heart and brain malformation syndrome heart_and_brain_malformation_syndrome Heart and Brain Malformation Syndrome SMG9 ovarian dysgenesis 5 ovarian_dysgenesis_5 Ovarian Dysgenesis 5 SOHLH1 renal dysplasia renal_dysplasia Renal Dysplasia REN ehlers-danlos syndrome progeroid type ehlers_danlos_syndrome_progeroid_type Ehlers-Danlos Syndrome Progeroid Type B4GALT7 DOID:0050802 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid RUNX1 DOID:9119 amyotrophic lateral sclerosis type 5 amyotrophic_lateral_sclerosis_type_5 Amyotrophic Lateral Sclerosis Type 5 SPG11 DOID:0060197 down syndrome down_syndrome Down Syndrome DCR DOID:14250 tuberous sclerosis tuberous_sclerosis Tuberous Sclerosis TSC2 DOID:13515 prostate cancer prostate_cancer Prostate Cancer RNASEL DOID:10286 alg1-congenital disorder of glycosylation alg1_congenital_disorder_of_glycosylation Alg1-Congenital Disorder of Glycosylation ALG1 atypical mycobacteriosis, familial atypical_mycobacteriosis_familial Atypical Mycobacteriosis, Familial IFNGR1 cdkl5 deficiency disorder cdkl5_deficiency_disorder Cdkl5 Deficiency Disorder CDKL5 chromosome xq26.3 duplication syndrome chromosome_xq263_duplication_syndrome Chromosome Xq26.3 Duplication Syndrome GPR101 congenital disorder of glycosylation, type ie congenital_disorder_of_glycosylation_type_ie Congenital Disorder of Glycosylation, Type Ie SSR4 congenital disorder of glycosylation, type ie congenital_disorder_of_glycosylation_type_ie Congenital Disorder of Glycosylation, Type Ie PMM2 congenital muscular dystrophy type 1a congenital_muscular_dystrophy_type_1a Congenital Muscular Dystrophy Type 1a LAMA2 deafness, nonsyndromic sensorineural, mitochondrial deafness_nonsyndromic_sensorineural_mitochondrial Deafness, Nonsyndromic Sensorineural, Mitochondrial MT-RNR1 epidermolysa bullosa simplex with muscular dystrophy epidermolysa_bullosa_simplex_with_muscular_dystrophy Epidermolysa Bullosa Simplex with Muscular Dystrophy PLEC giant congenital nevus giant_congenital_nevus Giant Congenital Nevus NRAS methemoglobinemia, beta type methemoglobinemia_beta_type Methemoglobinemia, Beta Type HBB neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities neurodevelopmental_disorder_with_microcephaly_cataracts_and_renal_abnormalities Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities GEMIN4 pancreas, dorsal, agenesis of pancreas_dorsal_agenesis_of Pancreas, Dorsal, Agenesis of PDX1 scn8a-related epilepsy with encephalopathy scn8a_related_epilepsy_with_encephalopathy Scn8a-Related Epilepsy with Encephalopathy SCN8A charcot-marie-tooth disease, axonal, type 2t charcot_marie_tooth_disease_axonal_type_2t Charcot-Marie-Tooth Disease, Axonal, Type 2t DNAJB2 DOID:0110160 epidermolysis bullosa junctionalis with pyloric atresia epidermolysis_bullosa_junctionalis_with_pyloric_atresia Epidermolysis Bullosa Junctionalis with Pyloric Atresia PLEC DOID:0060733 aniridia 1 aniridia_1 Aniridia 1 ELP4 DOID:12271 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFAF2 DOID:3652 inclusion body myositis inclusion_body_myositis Inclusion Body Myositis MYH2 DOID:3429 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion RYR1 DOID:0080102 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid PICALM DOID:9119 neuropathy, hereditary sensory, type ie neuropathy_hereditary_sensory_type_ie Neuropathy, Hereditary Sensory, Type Ie SPTLC1 DOID:0070158 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome dicer1_related_pleuropulmonary_blastoma_cancer_predisposition_syndrome Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome DICER1 facioscapulohumeral muscular dystrophy 1 facioscapulohumeral_muscular_dystrophy_1 Facioscapulohumeral Muscular Dystrophy 1 FSHMD1A DOID:11727 cholecystitis cholecystitis Cholecystitis ABCB4 DOID:1949 multicentric osteolysis nephropathy multicentric_osteolysis_nephropathy Multicentric Osteolysis Nephropathy MAFB paget disease of bone 2, early-onset paget_disease_of_bone_2_early_onset Paget Disease of Bone 2, Early-Onset SQSTM1 usher syndrome usher_syndrome Usher Syndrome USH2A DOID:0050439 vacterl association with hydrocephaly, x-linked vacterl_association_with_hydrocephaly_x_linked Vacterl Association with Hydrocephaly, X-Linked ZIC3 paroxysmal choreoathetosis paroxysmal_choreoathetosis Paroxysmal Choreoathetosis PNKD cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_and_sensorinural_hearing_loss Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss ATP1A3 2-methyl-3-hydroxybutyric aciduria 2_methyl_3_hydroxybutyric_aciduria 2-Methyl-3-Hydroxybutyric Aciduria HSD17B10 autosomal dominant optic atrophy plus syndrome autosomal_dominant_optic_atrophy_plus_syndrome Autosomal Dominant Optic Atrophy Plus Syndrome OPA1 cleft palate x-linked cleft_palate_x_linked Cleft Palate X-Linked TBX22 alg12-congenital disorder of glycosylation alg12_congenital_disorder_of_glycosylation Alg12-Congenital Disorder of Glycosylation ALG12 severe combined immunodeficiency, atypical severe_combined_immunodeficiency_atypical Severe Combined Immunodeficiency, Atypical ZAP70 cerebral folate deficiency cerebral_folate_deficiency Cerebral Folate Deficiency FOLR1 diffuse palmoplantar keratoderma, bothnian type diffuse_palmoplantar_keratoderma_bothnian_type Diffuse Palmoplantar Keratoderma, Bothnian Type AQP5 combined oxidative phosphorylation deficiency 35 combined_oxidative_phosphorylation_deficiency_35 Combined Oxidative Phosphorylation Deficiency 35 TRIT1 mitochondrial dna depletion syndrome 1 mitochondrial_dna_depletion_syndrome_1_mngie_type Mitochondrial Dna Depletion Syndrome 1 POLG DOID:0080119 renal dysplasia renal_dysplasia Renal Dysplasia AGT adult neuronal ceroid lipofuscinosis adult_neuronal_ceroid_lipofuscinosis Adult Neuronal Ceroid Lipofuscinosis CLN6 renal dysplasia renal_dysplasia Renal Dysplasia AGTR1 duane syndrome type 2 duane_syndrome_type_2 Duane Syndrome Type 2 CHN1 diabetes mellitus, transient neonatal, 1 diabetes_mellitus_transient_neonatal_1 Diabetes Mellitus, Transient Neonatal, 1 PLAGL1 DOID:0060334 bartter syndrome type 4 bartter_syndrome_type_4 Bartter Syndrome Type 4 BSND marden walker like syndrome marden_walker_like_syndrome Marden Walker Like Syndrome SCARF2 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy neurodevelopmental_disorder_with_microcephaly_seizures_and_cortical_atrophy Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy VARS fatal infantile encephalocardiomyopathy fatal_infantile_encephalocardiomyopathy Fatal Infantile Encephalocardiomyopathy SCO2 DOID:0050713 kallmann syndrome 6 kallmann_syndrome_6 Kallmann Syndrome 6 FGF8 orstavik lindemann solberg syndrome orstavik_lindemann_solberg_syndrome Orstavik Lindemann Solberg Syndrome WDPCP myopathy, distal, with rimmed vacuoles myopathy_distal_with_rimmed_vacuoles Myopathy, Distal, with Rimmed Vacuoles SQSTM1 catsper-related male infertility catsper_related_male_infertility Catsper-Related Male Infertility CATSPER1 juvenile macular degeneration and hypotrichosis juvenile_macular_degeneration_and_hypotrichosis Juvenile Macular Degeneration and Hypotrichosis CDH3 spondyloepimetaphyseal dysplasia with multiple dislocations spondyloepimetaphyseal_dysplasia_with_multiple_dislocations Spondyloepimetaphyseal Dysplasia with Multiple Dislocations KIF22 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula BRCA2 deafness, autosomal dominant nonsyndromic sensorineural 17 deafness_autosomal_dominant_nonsyndromic_sensorineural_17 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 MYH9 complement component 4b deficiency complement_component_4b_deficiency Complement Component 4b Deficiency C4B DOID:0060298 recombination rate quantitative trait locus 1 recombination_rate_quantitative_trait_locus_1 Recombination Rate Quantitative Trait Locus 1 RNF212 dyskeratosis congenita, autosomal recessive 1 dyskeratosis_congenita_autosomal_recessive_1 Dyskeratosis Congenita, Autosomal Recessive 1 NHP2 DOID:0070015 corneal endothelial dystrophy type 2 corneal_endothelial_dystrophy_type_2 Corneal Endothelial Dystrophy Type 2 SLC4A11 stickler syndrome, type 3 stickler_syndrome_type_3 Stickler Syndrome, Type 3 COL11A2 fibromatosis, gingival, 5 fibromatosis_gingival_5 Fibromatosis, Gingival, 5 REST DOID:0080280 anti-plasmin deficiency, congenital anti_plasmin_deficiency_congenital Anti-Plasmin Deficiency, Congenital SERPINF2 spastic paraplegia 1 spastic_paraplegia_1 Spastic Paraplegia 1 L1CAM wilms tumor and radial bilateral aplasia wilms_tumor_and_radial_bilateral_aplasia Wilms Tumor and Radial Bilateral Aplasia POU6F2 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula PALB2 kallmann syndrome 5 kallmann_syndrome_5 Kallmann Syndrome 5 CHD7 x-linked lissencephaly with abnormal genitalia x_linked_lissencephaly_with_abnormal_genitalia X-Linked Lissencephaly with Abnormal Genitalia ARX fitzsimmons-guilbert syndrome fitzsimmons_guilbert_syndrome Fitzsimmons-Guilbert Syndrome TBL1XR1 slow-channel congenital myasthenic syndrome slow_channel_congenital_myasthenic_syndrome Slow-Channel Congenital Myasthenic Syndrome CHRNA1 anophthalmos with limb anomalies anophthalmos_with_limb_anomalies Anophthalmos with Limb Anomalies SMOC1 cat eye syndrome cat_eye_syndrome Cat Eye Syndrome CECR leiner disease leiner_disease Leiner Disease C5 nsdhl-related disorders nsdhl_related_disorders Nsdhl-Related Disorders NSDHL twinning, dizygotic twinning_dizygotic Twinning, Dizygotic FSHR x-linked infantile nystagmus x_linked_infantile_nystagmus X-Linked Infantile Nystagmus FRMD7 leukocyte adhesion deficiency, type iii leukocyte_adhesion_deficiency_type_iii Leukocyte Adhesion Deficiency, Type Iii ITGB2 DOID:0110912 lattice corneal dystrophy type ii lattice_corneal_dystrophy_type_ii Lattice Corneal Dystrophy Type Ii GSN dysgnathia complex dysgnathia_complex Dysgnathia Complex PRRX1 talipes equinovarus talipes_equinovarus Talipes Equinovarus PITX1 lrba deficiency lrba_deficiency Lrba Deficiency LRBA stomatocytosis i stomatocytosis_i Stomatocytosis I RHAG macrozoospermia macrozoospermia Macrozoospermia AURKC cataract hutterite type cataract_hutterite_type Cataract Hutterite Type LEMD2 split-hand/foot malformation 1 split_hand_foot_malformation_1_3 Split-Hand/foot Malformation 1 SEM1 DOID:0090021 bap1 tumor predisposition syndrome bap1_tumor_predisposition_syndrome Bap1 Tumor Predisposition Syndrome BAP1 bamforth syndrome bamforth_syndrome Bamforth Syndrome FOXE1 nevus, epidermal nevus_epidermal Nevus, Epidermal KRAS DOID:0111162 oculomaxillofacial dysostosis oculomaxillofacial_dysostosis Oculomaxillofacial Dysostosis SPECC1L itch e3 ubiquitin ligase deficiency itch_e3_ubiquitin_ligase_deficiency Itch E3 Ubiquitin Ligase Deficiency ITCH polycystic liver disease 1 with or without kidney cysts polycystic_liver_disease_1_with_or_without_kidney_cysts Polycystic Liver Disease 1 with or Without Kidney Cysts SEC63 silver-russell syndrome silver_russell_syndrome Silver-Russell Syndrome RSS DOID:14681 zellweger spectrum disorder zellweger_spectrum_disorder Zellweger Spectrum Disorder PEX6 jacobsen syndrome jacobsen_syndrome Jacobsen Syndrome JBS colorectal cancer colorectal_cancer Colorectal Cancer SMAD4 DOID:9256 lynch syndrome lynch_syndrome Lynch Syndrome MLH1 DOID:3883 long qt syndrome long_qt_syndrome Long Qt Syndrome SCN5A DOID:2843 nemaline myopathy nemaline_myopathy Nemaline Myopathy NEB DOID:3191 primary hyperoxaluria primary_hyperoxaluria Primary Hyperoxaluria AGXT DOID:2977 thyroid cancer thyroid_cancer Thyroid Cancer BRAF DOID:3963 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome wilms_tumor_aniridia_genitourinary_anomalies_and_mental_retardation_syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome DEL11P13 DOID:14515 polycystic kidney disease, infantile severe, with tuberous sclerosis polycystic_kidney_disease_infantile_severe_with_tuberous_sclerosis Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis PKDTS breast cancer breast_cancer Breast Cancer PTEN DOID:3459 chromosome 4q32.1-q32.2 triplication syndrome chromosome_4q321_q322_triplication_syndrome Chromosome 4q32.1-Q32.2 Triplication Syndrome TRIP4Q32.1Q32.2 mulchandani-bhoj-conlin syndrome mulchandani_bhoj_conlin_syndrome Mulchandani-Bhoj-Conlin Syndrome MBCS chromosome xp11.23-p11.22 duplication syndrome chromosome_xp1123_p1122_duplication_syndrome Chromosome Xp11.23-P11.22 Duplication Syndrome DUPXP11.23P11.22 DOID:0060461 yuan-harel-lupski syndrome yuan_harel_lupski_syndrome Yuan-Harel-Lupski Syndrome YUHAL nablus mask-like facial syndrome nablus_mask_like_facial_syndrome Nablus Mask-Like Facial Syndrome NMLFS chromosome 6q11-q14 deletion syndrome chromosome_6q11_q14_deletion_syndrome Chromosome 6q11-Q14 Deletion Syndrome DEL6Q11Q14 DOID:0060423 corneal dystrophy, posterior amorphous corneal_dystrophy_posterior_amorphous Corneal Dystrophy, Posterior Amorphous PACD DOID:0060452 chromosome 15q26-qter deletion syndrome chromosome_15q26_qter_deletion_syndrome Chromosome 15q26-Qter Deletion Syndrome DEL15Q26QTER DOID:0060397 chromosome xq27.3-q28 duplication syndrome chromosome_xq273_q28_duplication_syndrome Chromosome Xq27.3-Q28 Duplication Syndrome DUPXQ27.3Q28 chromosome 14q11-q22 deletion syndrome chromosome_14q11_q22_deletion_syndrome Chromosome 14q11-Q22 Deletion Syndrome DEL14Q11Q22 DOID:0060392 chromosome 17q23.1-q23.2 duplication syndrome chromosome_17q231_q232_duplication_syndrome Chromosome 17q23.1-Q23.2 Duplication Syndrome DUP17Q23.1Q23.2 chromosome 17q23.1-q23.2 deletion syndrome chromosome_17q231_q232_deletion_syndrome Chromosome 17q23.1-Q23.2 Deletion Syndrome DEL17Q23.1Q23.2 DOID:0060405 chromosome 1q41-q42 deletion syndrome chromosome_1q41_q42_deletion_syndrome Chromosome 1q41-Q42 Deletion Syndrome DEL1Q41Q42 DOID:0060412 macrophthalmia, colobomatous, with microcornea macrophthalmia_colobomatous_with_microcornea Macrophthalmia, Colobomatous, with Microcornea MACOM chromosome 2p12-p11.2 deletion syndrome chromosome_2p12_p112_deletion_syndrome Chromosome 2p12-P11.2 Deletion Syndrome DEL2P12P11.2 DOID:0060414 chromosome 2p16.1-p15 deletion syndrome chromosome_2p161_p15_deletion_syndrome Chromosome 2p16.1-P15 Deletion Syndrome DEL2P16.1-P15 DOID:0060415 supernumerary der(22)t(8 supernumerary_der22t8 Supernumerary Der(22)t(8 DER22T8-22 osteogenesis imperfecta, type xvi osteogenesis_imperfecta_type_xvi Osteogenesis Imperfecta, Type Xvi OI16 DOID:0110345 split-hand/foot malformation 3 split_hand_foot_malformation_3 Split-Hand/foot Malformation 3 SHFM3 DOID:0090025 chromosome 19q13.11 deletion syndrome, proximal chromosome_19q1311_deletion_syndrome_proximal Chromosome 19q13.11 Deletion Syndrome, Proximal DEL19Q13.11P chromosome 22q11.2 deletion syndrome, distal chromosome_22q112_deletion_syndrome_distal Chromosome 22q11.2 Deletion Syndrome, Distal DEL22Q11.2 DOID:0060413 chromosome 8p11 myeloproliferative syndrome chromosome_8p11_myeloproliferative_syndrome Chromosome 8p11 Myeloproliferative Syndrome SCLL choroideremia, deafness, and mental retardation choroideremia_deafness_and_mental_retardation Choroideremia, Deafness, and Mental Retardation DELXQ21 hypotonia-cystinuria syndrome hypotonia_cystinuria_syndrome Hypotonia-Cystinuria Syndrome DEL2P21 DOID:0060858 chromosome 18 pericentric inversion chromosome_18_pericentric_inversion Chromosome 18 Pericentric Inversion DUP18PDEL18Q dandy-walker syndrome dandy_walker_syndrome Dandy-Walker Syndrome DWS DOID:2785 kagami-ogata syndrome kagami_ogata_syndrome Kagami-Ogata Syndrome KAOGS mesomelia-synostoses syndrome mesomelia_synostoses_syndrome Mesomelia-Synostoses Syndrome DEL8Q13 glaucoma 1, open angle, p glaucoma_1_open_angle_p Glaucoma 1, Open Angle, P GLC1P chromosome 22q13 duplication syndrome chromosome_22q13_duplication_syndrome Chromosome 22q13 Duplication Syndrome DUP22Q13 DOID:0060437 chromosome 2q31.1 duplication syndrome chromosome_2q311_duplication_syndrome Chromosome 2q31.1 Duplication Syndrome DUP2Q31.1 DOID:0060458 chromosome 5p13 duplication syndrome chromosome_5p13_duplication_syndrome Chromosome 5p13 Duplication Syndrome DUP5P13 DOID:0060460 chromosome xq26.3 duplication syndrome chromosome_xq263_duplication_syndrome Chromosome Xq26.3 Duplication Syndrome CXDUPQ26.3 potocki-shaffer syndrome potocki_shaffer_syndrome Potocki-Shaffer Syndrome PSS chromosome 17q12 duplication syndrome chromosome_17q12_duplication_syndrome Chromosome 17q12 Duplication Syndrome DUP17Q12 DOID:0060433 chromosome 17q21.31 duplication syndrome chromosome_17q2131_duplication_syndrome Chromosome 17q21.31 Duplication Syndrome DUP17Q21.31 DOID:0060434 chromosome 1q21.1 duplication syndrome chromosome_1q211_duplication_syndrome Chromosome 1q21.1 Duplication Syndrome DUP1Q21 DOID:0060435 chromosome 16p13.3 duplication syndrome chromosome_16p133_duplication_syndrome Chromosome 16p13.3 Duplication Syndrome DUP16P13.3 DOID:0060431 chromosome 1p36 deletion syndrome chromosome_1p36_deletion_syndrome Chromosome 1p36 Deletion Syndrome DEL1P36 DOID:0060410 chromosome 13q14 deletion syndrome chromosome_13q14_deletion_syndrome Chromosome 13q14 Deletion Syndrome DEL13Q14 DOID:0060391 chromosome 15q11.2 deletion syndrome chromosome_15q112_deletion_syndrome Chromosome 15q11.2 Deletion Syndrome DEL15Q11.2 DOID:0060393 chromosome 15q25 deletion syndrome chromosome_15q25_deletion_syndrome Chromosome 15q25 Deletion Syndrome DEL15Q25 DOID:0060396 chromosome 16p13.2 deletion syndrome chromosome_16p132_deletion_syndrome Chromosome 16p13.2 Deletion Syndrome DEL16P13.2 chromosome 16q22 deletion syndrome chromosome_16q22_deletion_syndrome Chromosome 16q22 Deletion Syndrome C16DELQ22 DOID:0060401 chromosome 17p13.1 deletion syndrome chromosome_17p131_deletion_syndrome Chromosome 17p13.1 Deletion Syndrome DEL17P13.1 DOID:0060402 chromosome 18q deletion syndrome chromosome_18q_deletion_syndrome Chromosome 18q Deletion Syndrome DEL18Q DOID:0060407 chromosome 19p13.13 deletion syndrome chromosome_19p1313_deletion_syndrome Chromosome 19p13.13 Deletion Syndrome DEL19P13.13 DOID:0060426 chromosome 1p35 deletion syndrome chromosome_1p35_deletion_syndrome Chromosome 1p35 Deletion Syndrome C1DELP35 chromosome 2q31.2 deletion syndrome chromosome_2q312_deletion_syndrome Chromosome 2q31.2 Deletion Syndrome DEL2Q31 DOID:0060416 chromosome 3q13.31 deletion syndrome chromosome_3q1331_deletion_syndrome Chromosome 3q13.31 Deletion Syndrome DEL3Q13.31 DOID:0060418 chromosome 4q21 deletion syndrome chromosome_4q21_deletion_syndrome Chromosome 4q21 Deletion Syndrome DEL4Q21 DOID:0060420 chromosome 8q21.11 deletion syndrome chromosome_8q2111_deletion_syndrome Chromosome 8q21.11 Deletion Syndrome DEL8Q21.11 DOID:0060425 chromosome xp11.3 deletion syndrome chromosome_xp113_deletion_syndrome Chromosome Xp11.3 Deletion Syndrome DELXP11.3 chromosome xp21 deletion syndrome chromosome_xp21_deletion_syndrome Chromosome Xp21 Deletion Syndrome DELXP21 DOID:0060427 chromosome 15q14 deletion syndrome chromosome_15q14_deletion_syndrome Chromosome 15q14 Deletion Syndrome DEL15Q14 chromosome xq28 duplication syndrome chromosome_xq28_duplication_syndrome Chromosome Xq28 Duplication Syndrome DUPXQ28 chromosome 17q12 deletion syndrome chromosome_17q12_deletion_syndrome Chromosome 17q12 Deletion Syndrome DEL17Q12 DOID:0060404 potocki-lupski syndrome potocki_lupski_syndrome Potocki-Lupski Syndrome PTLS DOID:0060853 chromosome 18p deletion syndrome chromosome_18p_deletion_syndrome Chromosome 18p Deletion Syndrome DEL18P DOID:0060406 chromosome 9p deletion syndrome chromosome_9p_deletion_syndrome Chromosome 9p Deletion Syndrome DEL9P DOID:0060732 xq25 duplication syndrome xq25_duplication_syndrome Xq25 Duplication Syndrome DUPXQ25 tetrasomy 18p tetrasomy_18p Tetrasomy 18p TET18P williams-beuren syndrome williams_beuren_syndrome Williams-Beuren Syndrome WBS2 DOID:1928 otodental dysplasia otodental_dysplasia Otodental Dysplasia OTDD microcoria, congenital microcoria_congenital Microcoria, Congenital MCOR ring chromosome 14 syndrome ring_chromosome_14_syndrome Ring Chromosome 14 Syndrome RC14S emanuel syndrome emanuel_syndrome Emanuel Syndrome DER22T11-22 frias syndrome frias_syndrome Frias Syndrome FRIASS temple syndrome temple_syndrome Temple Syndrome TEMPS lynch syndrome lynch_syndrome Lynch Syndrome PMS2 DOID:3883 usher syndrome usher_syndrome Usher Syndrome MYO7A DOID:0050439 limb-girdle muscular dystrophy limb_girdle_muscular_dystrophy Limb-Girdle Muscular Dystrophy LMNA hypoascorbemia hypoascorbemia Hypoascorbemia GULOP DOID:13724 achromatopsia achromatopsia Achromatopsia PDE6C DOID:13911 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid MLLT10 DOID:9119 mitochondrial myopathy mitochondrial_myopathy Mitochondrial Myopathy MT-TW DOID:699 gilles de la tourette syndrome gilles_de_la_tourette_syndrome Gilles De La Tourette Syndrome HDC DOID:11119 albinism albinism Albinism TYR leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid NUP214 DOID:9119 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy MYH7 DOID:11984 muscular dystrophy muscular_dystrophy Muscular Dystrophy LMNA DOID:9884 hermansky-pudlak syndrome hermansky_pudlak_syndrome Hermansky-Pudlak Syndrome HPS1 DOID:3753 intestinal pseudo-obstruction intestinal_pseudo_obstruction Intestinal Pseudo-Obstruction CLMP DOID:3878 persistent fetal circulation syndrome persistent_fetal_circulation_syndrome Persistent Fetal Circulation Syndrome FOXF1 DOID:13042 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid NSD3 DOID:9119 usher syndrome usher_syndrome Usher Syndrome ADGRV1 DOID:0050439 thyroid cancer thyroid_cancer Thyroid Cancer RET DOID:3963 gaucher's disease gauchers_disease Gaucher's Disease GBA DOID:1926 thyroid cancer thyroid_cancer Thyroid Cancer HRAS DOID:3963 long qt syndrome long_qt_syndrome Long Qt Syndrome KCNH2 DOID:2843 long qt syndrome long_qt_syndrome Long Qt Syndrome KCNQ1 DOID:2843 glioblastoma glioblastoma Glioblastoma PTEN thyrotoxic periodic paralysis thyrotoxic_periodic_paralysis Thyrotoxic Periodic Paralysis KCNJ18 lynch syndrome lynch_syndrome Lynch Syndrome MSH2 DOID:3883 46,xx sex reversal 2 46xx_sex_reversal_2_2 46,xx Sex Reversal 2 SRXX2 46,xx sex reversal 3 46xx_sex_reversal_3_2 46,xx Sex Reversal 3 SRXX3 46,xy sex reversal 10 46xy_sex_reversal_10 46,xy Sex Reversal 10 SRXY10 alpha-thalassemia/mental retardation syndrome, chromosome 16-related alpha_thalassemia_mental_retardation_syndrome_chromosome_16_related Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related HBHR amme complex amme_complex Amme Complex AMMEC anemia, sideroblastic, 2, pyridoxine-refractory anemia_sideroblastic_2_pyridoxine_refractory Anemia, Sideroblastic, 2, Pyridoxine-Refractory GLRX5 ariboflavinosis ariboflavinosis Ariboflavinosis SLC52A1 DOID:8454 arthrogryposis, distal, type 1a arthrogryposis_distal_type_1a Arthrogryposis, Distal, Type 1a MYBPC1 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome ICR1 DOID:5572 branchiootorenal syndrome 1 branchiootorenal_syndrome_1 Branchiootorenal Syndrome 1 SIX1 cardiomyopathy, familial hypertrophic, 1 cardiomyopathy_familial_hypertrophic_1 Cardiomyopathy, Familial Hypertrophic, 1 MYH6 DOID:0110307 cervix carcinoma cervix_carcinoma Cervix Carcinoma FGFR3 DOID:2893 charcot-marie-tooth disease, axonal, type 2b charcot_marie_tooth_disease_axonal_type_2b Charcot-Marie-Tooth Disease, Axonal, Type 2b CMT2B DOID:0110159 chromosome 10q26 deletion syndrome chromosome_10q26_deletion_syndrome Chromosome 10q26 Deletion Syndrome DEL10Q26 DOID:0060390 chromosome 11p13 deletion syndrome, distal chromosome_11p13_deletion_syndrome_distal Chromosome 11p13 Deletion Syndrome, Distal DEL11P13 chromosome 15q13.3 deletion syndrome chromosome_15q133_deletion_syndrome Chromosome 15q13.3 Deletion Syndrome DEL15Q13.3 DOID:0060394 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb chromosome_16p122_p112_deletion_syndrome_71_to_87_mb Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb DEL16P12.1P11.2 DOID:0060400 chromosome 16p13.3 deletion syndrome, proximal chromosome_16p133_deletion_syndrome_proximal Chromosome 16p13.3 Deletion Syndrome, Proximal DEL16P13.3 DOID:1933 chromosome 17p13.3, centromeric, duplication syndrome chromosome_17p133_centromeric_duplication_syndrome Chromosome 17p13.3, Centromeric, Duplication Syndrome DUP17P13.3 DOID:0060432 chromosome 17p13.3, telomeric, duplication syndrome chromosome_17p133_telomeric_duplication_syndrome Chromosome 17p13.3, Telomeric, Duplication Syndrome SHFLD3 chromosome 17q11.2 deletion syndrome, 1.4-mb chromosome_17q112_deletion_syndrome_14_mb Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb DEL17Q11.2 DOID:0060403 chromosome 19q13.11 deletion syndrome, distal chromosome_19q1311_deletion_syndrome_distal Chromosome 19q13.11 Deletion Syndrome, Distal DEL19Q13.11 chromosome 1q21.1 deletion syndrome, 1.35-mb chromosome_1q211_deletion_syndrome_135_mb Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb DEL1Q21 DOID:0060411 chromosome 22q11.2 duplication syndrome chromosome_22q112_duplication_syndrome Chromosome 22q11.2 Duplication Syndrome DUP22Q11.2 DOID:0060436 chromosome 2q35 duplication syndrome chromosome_2q35_duplication_syndrome Chromosome 2q35 Duplication Syndrome CUP2Q35 DOID:11193 chromosome 3pter-p25 deletion syndrome chromosome_3pter_p25_deletion_syndrome Chromosome 3pter-P25 Deletion Syndrome DEL3PTERP25 DOID:0060417 chromosome 3q29 deletion syndrome chromosome_3q29_deletion_syndrome Chromosome 3q29 Deletion Syndrome DEL3Q29 DOID:0060419 chromosome 3q29 duplication syndrome chromosome_3q29_duplication_syndrome Chromosome 3q29 Duplication Syndrome DUP3Q29 DOID:0060459 chromosome 5q12 deletion syndrome chromosome_5q12_deletion_syndrome Chromosome 5q12 Deletion Syndrome DEL5Q12 DOID:0060421 chromosome 5q14.3 deletion syndrome, distal chromosome_5q143_deletion_syndrome_distal Chromosome 5q14.3 Deletion Syndrome, Distal PVNH5 chromosome 6pter-p24 deletion syndrome chromosome_6pter_p24_deletion_syndrome Chromosome 6pter-P24 Deletion Syndrome DEL6PTER DOID:0060422 chromosome 6q24-q25 deletion syndrome chromosome_6q24_q25_deletion_syndrome Chromosome 6q24-Q25 Deletion Syndrome DEL6Q24Q25 DOID:0060424 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb chromosome_7q1123_deletion_syndrome_distal_12_mb Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb DEL7Q11.23 chromosome 8q12.1-q21.2 deletion syndrome chromosome_8q121_q212_deletion_syndrome Chromosome 8q12.1-Q21.2 Deletion Syndrome DEL8Q12Q21 chromosome 8q22.1 duplication syndrome chromosome_8q221_duplication_syndrome Chromosome 8q22.1 Duplication Syndrome DUP8Q22.1 chromosome xp11.22 duplication syndrome chromosome_xp1122_duplication_syndrome Chromosome Xp11.22 Duplication Syndrome DUPXP11.22 congenital myasthenic syndrome associated with acetylcholine receptor deficiency congenital_myasthenic_syndrome_associated_with_acetylcholine_receptor_deficiency Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency CHRNE deafness-infertility syndrome deafness_infertility_syndrome Deafness-Infertility Syndrome DEL15Q15.3 deafness, nonsyndromic sensorineural, mitochondrial deafness_nonsyndromic_sensorineural_mitochondrial Deafness, Nonsyndromic Sensorineural, Mitochondrial MT-TS1 dfna2 nonsyndromic hearing loss dfna2_nonsyndromic_hearing_loss Dfna2 Nonsyndromic Hearing Loss KCNQ4 diamond-blackfan anemia 1 diamond_blackfan_anemia_1 Diamond-Blackfan Anemia 1 RPL5 ectodermal dysplasia-syndactyly syndrome 1 ectodermal_dysplasia_syndactyly_syndrome_1 Ectodermal Dysplasia-Syndactyly Syndrome 1 PRR4 efemp2-related cutis laxa efemp2_related_cutis_laxa Efemp2-Related Cutis Laxa EFEMP2 epileptic encephalopathy, early infantile, 36 epileptic_encephalopathy_early_infantile_36 Epileptic Encephalopathy, Early Infantile, 36 DPM2 DOID:0050570 erythrocytosis, familial, 6 erythrocytosis_familial_6 Erythrocytosis, Familial, 6 HBB erythrocytosis, familial, 7 erythrocytosis_familial_7 Erythrocytosis, Familial, 7 HBA1 follicular lymphoma 1 follicular_lymphoma_1 Follicular Lymphoma 1 BCL10 gaba aminotransferase deficiency gaba_aminotransferase_deficiency Gaba Aminotransferase Deficiency ABAT DOID:0060174 homozygous 11p15-p14 deletion syndrome homozygous_11p15_p14_deletion_syndrome Homozygous 11p15-P14 Deletion Syndrome DEL11P15P14 hypertrichosis universalis congenita, ambras type hypertrichosis_universalis_congenita_ambras_type Hypertrichosis Universalis Congenita, Ambras Type HTC2 DOID:0111060 hypertrichosis, congenital generalized, with or without gingival hyperplasia hypertrichosis_congenital_generalized_with_or_without_gingival_hyperplasia Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia HTGH hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic_hypogonadism_1_with_or_without_anosmia Hypogonadotropic Hypogonadism 1 with or Without Anosmia KMS DOID:0090094 inflammatory bowel disease 25, autosomal recessive inflammatory_bowel_disease_25_autosomal_recessive Inflammatory Bowel Disease 25, Autosomal Recessive IBD25 insulin-resistant acanthosis nigricans, type a insulin_resistant_acanthosis_nigricans_type_a Insulin-Resistant Acanthosis Nigricans, Type a INSR isolated hyperckemia isolated_hyperckemia Isolated Hyperckemia CAV3 lactose intolerance, adult type lactose_intolerance_adult_type Lactose Intolerance, Adult Type MCM6 lambdoid synostosis lambdoid_synostosis Lambdoid Synostosis ERF late-onset distal myopathy, markesbery-griggs type late_onset_distal_myopathy_markesbery_griggs_type Late-Onset Distal Myopathy, Markesbery-Griggs Type LDB3 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid LPP DOID:9119 leukodystrophy, hypomyelinating, 17 leukodystrophy_hypomyelinating_17 Leukodystrophy, Hypomyelinating, 17 AIMP2 malignant histiocytosis malignant_histiocytosis Malignant Histiocytosis RAG1 DOID:8580 malignant histiocytosis malignant_histiocytosis Malignant Histiocytosis RAG2 DOID:8580 malignant histiocytosis malignant_histiocytosis Malignant Histiocytosis DCLRE1C DOID:8580 metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal_dysplasia_maxillary_hypoplasia_brachydactyly Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly RUNX2 methemoglobinemia, alpha type methemoglobinemia_alpha_type Methemoglobinemia, Alpha Type HBA1 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency TACO1 DOID:3762 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TL1 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TL2 monosomy 7 of bone marrow monosomy_7_of_bone_marrow Monosomy 7 of Bone Marrow MLSM7 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism moyamoya_disease_4_with_short_stature_hypergonadotropic_hypogonadism_and_facial_dysmorphism Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism MYMY4 muscular dystrophy-dystroglycanopathy , type a, 1 muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_1 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 FKTN muscular dystrophy-dystroglycanopathy , type a, 1 muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_1 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 FKRP myoclonic epilepsy associated with ragged-red fibers myoclonic_epilepsy_associated_with_ragged_red_fibers Myoclonic Epilepsy Associated with Ragged-Red Fibers MT-TI DOID:310 omphalocele, autosomal omphalocele_autosomal Omphalocele, Autosomal OPHLC opitz gbbb syndrome, type ii opitz_gbbb_syndrome_type_ii Opitz Gbbb Syndrome, Type Ii MID1 pallister-killian syndrome pallister_killian_syndrome Pallister-Killian Syndrome ARAF paroxysmal nonkinesigenic dyskinesia 1 paroxysmal_nonkinesigenic_dyskinesia_1 Paroxysmal Nonkinesigenic Dyskinesia 1 MR1 DOID:0090049 prickle1-related progressive myoclonus epilepsy with ataxia prickle1_related_progressive_myoclonus_epilepsy_with_ataxia Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia PRICKLE1 pseudohyperkalemia, familial, 2, due to red cell leak pseudohyperkalemia_familial_2_due_to_red_cell_leak Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak SLC4A1 pseudohypoaldosteronism, type iie pseudohypoaldosteronism_type_iie_2 Pseudohypoaldosteronism, Type Iie PIEZO2 rrm2b-related mitochondrial dna depletion syndrome rrm2b_related_mitochondrial_dna_depletion_syndrome Rrm2b-Related Mitochondrial Dna Depletion Syndrome RRM2B saccharopinuria saccharopinuria Saccharopinuria AASS schizophrenia 16 schizophrenia_16 Schizophrenia 16 VIPR2 DOID:0070092 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 skin fragility-woolly hair-palmoplantar keratoderma syndrome skin_fragility_woolly_hair_palmoplantar_keratoderma_syndrome Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome DSP spermatogenic failure, y-linked, 1 spermatogenic_failure_y_linked_1 Spermatogenic Failure, Y-Linked, 1 DELYQ11 spinocerebellar ataxia type 1 with axonal neuropathy spinocerebellar_ataxia_type_1_with_axonal_neuropathy Spinocerebellar Ataxia Type 1 with Axonal Neuropathy TDP1 DOID:0090115 spondyloepimetaphyseal dysplasia joint laxity spondyloepimetaphyseal_dysplasia_joint_laxity Spondyloepimetaphyseal Dysplasia Joint Laxity B3GALT6 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities tetramelic_deficiencies_ectodermal_dysplasia_deformed_ears_and_other_abnormalities Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities ANTXR1 tetrasomy 15q26 tetrasomy_15q26 Tetrasomy 15q26 LVSKS toe syndactyly, telecanthus, and anogenital and renal malformations toe_syndactyly_telecanthus_and_anogenital_and_renal_malformations Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations STAR tumoral calcinosis, hyperphosphatemic, familial, 2 tumoral_calcinosis_hyperphosphatemic_familial_2 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 FGF23 williams-beuren region duplication syndrome williams_beuren_region_duplication_syndrome Williams-Beuren Region Duplication Syndrome DUP7Q11.23 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome wilms_tumor_aniridia_genitourinary_anomalies_mental_retardation_and_obesity_syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome WAGRO x inactivation, familial skewed, 1 x_inactivation_familial_skewed_1 X Inactivation, Familial Skewed, 1 XIC x inactivation, familial skewed, 1 x_inactivation_familial_skewed_1 X Inactivation, Familial Skewed, 1 XIST zellweger spectrum disorder zellweger_spectrum_disorder Zellweger Spectrum Disorder PEX12 niemann-pick disease niemann_pick_disease Niemann-Pick Disease SMPD1 DOID:14504 lynch syndrome lynch_syndrome Lynch Syndrome MSH6 DOID:3883 tuberous sclerosis tuberous_sclerosis Tuberous Sclerosis TSC1 DOID:13515 oculocutaneous albinism oculocutaneous_albinism Oculocutaneous Albinism TYR DOID:0050632 ovarian cancer ovarian_cancer Ovarian Cancer BRCA2 DOID:2394 squamous cell carcinoma squamous_cell_carcinoma Squamous Cell Carcinoma TP53 DOID:1749 homocystinuria homocystinuria Homocystinuria CBS DOID:9263 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy MYBPC3 DOID:11984 primary hyperoxaluria primary_hyperoxaluria Primary Hyperoxaluria GRHPR DOID:2977 hyperekplexia hyperekplexia Hyperekplexia GPHN DOID:0060695 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa C8orf37 DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PDE6G DOID:10584 thyroid cancer thyroid_cancer Thyroid Cancer NRAS DOID:3963 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RBP3 DOID:10584 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy MYH7 DOID:12930 colorectal cancer colorectal_cancer Colorectal Cancer HRAS DOID:9256 usher syndrome usher_syndrome Usher Syndrome USH1C DOID:0050439 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis PTPN22 DOID:7148 atrial fibrillation atrial_fibrillation Atrial Fibrillation KCNQ1 DOID:0060224 arrhythmogenic right ventricular cardiomyopathy arrhythmogenic_right_ventricular_cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy PKP2 DOID:0050431 nephronophthisis nephronophthisis Nephronophthisis NPHP1 DOID:12712 arrhythmogenic right ventricular cardiomyopathy arrhythmogenic_right_ventricular_cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy DSP DOID:0050431 severe congenital neutropenia severe_congenital_neutropenia Severe Congenital Neutropenia CSF3R DOID:0050590 muscular dystrophy muscular_dystrophy Muscular Dystrophy DMD DOID:9884 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis TPP1 DOID:14503 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis PPT1 DOID:14503 corneal dystrophy, posterior polymorphous, 1 corneal_dystrophy_posterior_polymorphous_1 Corneal Dystrophy, Posterior Polymorphous, 1 VSX1 DOID:0110855 pancreatic cancer pancreatic_cancer Pancreatic Cancer BRCA1 DOID:4905 neonatal diabetes mellitus neonatal_diabetes_mellitus Neonatal Diabetes Mellitus ABCC8 DOID:11717 spinal muscular atrophy spinal_muscular_atrophy Spinal Muscular Atrophy SMN1 DOID:12377 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial PCSK9 DOID:13810 pendred syndrome pendred_syndrome Pendred Syndrome KCNJ10 DOID:0060744 glycogen storage disease glycogen_storage_disease Glycogen Storage Disease GAA DOID:2747 intrahepatic cholestasis intrahepatic_cholestasis Intrahepatic Cholestasis ABCB11 DOID:1852 waardenburg's syndrome waardenburgs_syndrome Waardenburg's Syndrome PAX3 DOID:9258 waardenburg's syndrome waardenburgs_syndrome Waardenburg's Syndrome EDNRB DOID:9258 cystinosis cystinosis Cystinosis CTNS DOID:1064 waardenburg's syndrome waardenburgs_syndrome Waardenburg's Syndrome MITF DOID:9258 squamous cell carcinoma squamous_cell_carcinoma Squamous Cell Carcinoma HRAS DOID:1749 sick sinus syndrome sick_sinus_syndrome Sick Sinus Syndrome SCN5A DOID:13884 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy TNNI3 DOID:11984 achromatopsia achromatopsia Achromatopsia PDE6H DOID:13911 glioblastoma glioblastoma Glioblastoma EGFR oculocutaneous albinism oculocutaneous_albinism Oculocutaneous Albinism OCA2 DOID:0050632 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa LRAT DOID:10584 albinism albinism Albinism TYRP1 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung RB1 DOID:5411 erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia_variabilis_et_progressiva_1 Erythrokeratodermia Variabilis Et Progressiva 1 GJB4 DOID:0050467 multiple endocrine neoplasia multiple_endocrine_neoplasia Multiple Endocrine Neoplasia RET glycogen storage disease glycogen_storage_disease Glycogen Storage Disease PYGM DOID:2747 endometrial cancer endometrial_cancer Endometrial Cancer KRAS DOID:2871 nephronophthisis nephronophthisis Nephronophthisis CEP290 DOID:12712 angelman syndrome angelman_syndrome Angelman Syndrome MECP2 DOID:1932 restrictive cardiomyopathy restrictive_cardiomyopathy Restrictive Cardiomyopathy TNNI3 DOID:397 von willebrand's disease von_willebrands_disease Von Willebrand's Disease VWF DOID:12531 aplastic anemia aplastic_anemia Aplastic Anemia TERC DOID:12449 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 C9orf72 DOID:332 nephronophthisis nephronophthisis Nephronophthisis NPHP4 DOID:12712 heart disease heart_disease Heart Disease GATA4 DOID:1682 adenocarcinoma adenocarcinoma Adenocarcinoma TP53 DOID:299 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ARL6 DOID:10584 nephronophthisis nephronophthisis Nephronophthisis NPHP3 DOID:12712 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome NRAS DOID:0050908 colorectal cancer colorectal_cancer Colorectal Cancer MUTYH DOID:9256 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MPZ DOID:10595 loeys-dietz syndrome loeys_dietz_syndrome Loeys-Dietz Syndrome TGFBR1 DOID:0050466 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis CLN5 DOID:14503 intrahepatic cholestasis intrahepatic_cholestasis Intrahepatic Cholestasis ABCB4 DOID:1852 centronuclear myopathy centronuclear_myopathy Centronuclear Myopathy DNM2 DOID:14717 diabetes mellitus diabetes_mellitus Diabetes Mellitus KCNJ11 DOID:9351 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 VCP DOID:332 esophageal cancer esophageal_cancer Esophageal Cancer TP53 DOID:5041 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease GDAP1 DOID:10595 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis CLN3 DOID:14503 muscular dystrophy muscular_dystrophy Muscular Dystrophy POMT2 DOID:9884 ectodermal dysplasia ectodermal_dysplasia Ectodermal Dysplasia EDA charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MFN2 DOID:10595 lung cancer lung_cancer Lung Cancer PTEN DOID:3908 glioblastoma glioblastoma Glioblastoma TP53 ectodermal dysplasia ectodermal_dysplasia Ectodermal Dysplasia EDAR lung cancer lung_cancer Lung Cancer MAP2K1 DOID:3908 heart disease heart_disease Heart Disease NKX2-5 DOID:1682 tyrosinemia tyrosinemia Tyrosinemia FAH DOID:9275 stickler syndrome stickler_syndrome Stickler Syndrome COL2A1 DOID:0080046 muscular dystrophy muscular_dystrophy Muscular Dystrophy FKRP DOID:9884 craniosynostosis craniosynostosis Craniosynostosis FGFR2 DOID:2340 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome CHRNE DOID:3635 nephronophthisis nephronophthisis Nephronophthisis TMEM67 DOID:12712 glioblastoma glioblastoma Glioblastoma PIK3CA hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes TMEM127 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease KIF1B DOID:10595 synpolydactyly synpolydactyly Synpolydactyly HOXD13 DOID:0060242 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot GDF1 DOID:6419 dystonia dystonia Dystonia TOR1A DOID:543 kabuki syndrome 1 kabuki_syndrome_1 Kabuki Syndrome 1 KDM6A DOID:0060473 insulinoma insulinoma Insulinoma MEN1 DOID:3892 waldenstrom macroglobulinemia waldenstrom_macroglobulinemia Waldenstrom Macroglobulinemia MYD88 pseudohypoaldosteronism pseudohypoaldosteronism Pseudohypoaldosteronism NR3C2 DOID:4479 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease TRPV4 DOID:10595 craniosynostosis craniosynostosis Craniosynostosis FGFR3 DOID:2340 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion TPM2 DOID:0080102 dementia dementia Dementia MAPT DOID:1307 malignant hyperthermia susceptibility malignant_hyperthermia_susceptibility Malignant Hyperthermia Susceptibility RYR1 zellweger syndrome zellweger_syndrome Zellweger Syndrome PEX10 DOID:905 osteopoikilosis osteopoikilosis Osteopoikilosis LEMD3 DOID:11991 familial acute necrotizing encephalopathy familial_acute_necrotizing_encephalopathy Familial Acute Necrotizing Encephalopathy RANBP2 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease LMNA DOID:10595 gillespie syndrome gillespie_syndrome Gillespie Syndrome PAX6 medulloblastoma medulloblastoma Medulloblastoma TP53 DOID:0050902 colorectal cancer colorectal_cancer Colorectal Cancer PTEN DOID:9256 glioblastoma glioblastoma Glioblastoma MTOR adenoid cystic carcinoma adenoid_cystic_carcinoma Adenoid Cystic Carcinoma TP53 DOID:4866 nephronophthisis nephronophthisis Nephronophthisis INVS DOID:12712 microcephaly microcephaly Microcephaly NBN DOID:10907 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy MYL3 DOID:11984 lymphoproliferative syndrome, x-linked, 1 lymphoproliferative_syndrome_x_linked_1 Lymphoproliferative Syndrome, X-Linked, 1 XIAP DOID:0060705 erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia_variabilis_et_progressiva_1 Erythrokeratodermia Variabilis Et Progressiva 1 GJA1 DOID:0050467 scoliosis scoliosis Scoliosis FBN1 DOID:0060249 corneal dystrophy corneal_dystrophy Corneal Dystrophy ZEB1 DOID:2566 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease HSPB1 DOID:10595 myofibrillar myopathy myofibrillar_myopathy Myofibrillar Myopathy DES ichthyosis ichthyosis Ichthyosis STS DOID:1697 thrombocytopenia thrombocytopenia Thrombocytopenia ETV6 DOID:1588 diabetes mellitus, insulin-dependent diabetes_mellitus_insulin_dependent Diabetes Mellitus, Insulin-Dependent PTPN22 DOID:9744 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome PALB2 DOID:5683 myopathy myopathy Myopathy RYR1 DOID:423 myopathy myopathy Myopathy COL6A1 DOID:423 severe combined immunodeficiency severe_combined_immunodeficiency Severe Combined Immunodeficiency IL7R DOID:627 myopathy myopathy Myopathy COL6A2 DOID:423 ichthyosis ichthyosis Ichthyosis FLG DOID:1697 familial hemiplegic migraine familial_hemiplegic_migraine Familial Hemiplegic Migraine ATP1A2 DOID:0060178 morquio syndrome morquio_syndrome Morquio Syndrome GALNS mucopolysaccharidosis iii mucopolysaccharidosis_iii Mucopolysaccharidosis Iii SGSH DOID:12801 febrile seizures febrile_seizures Febrile Seizures SCN1A congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome CHAT DOID:3635 myopathy myopathy Myopathy COL6A3 DOID:423 brain cancer brain_cancer Brain Cancer PTEN DOID:1319 colorectal cancer colorectal_cancer Colorectal Cancer MAP2K1 DOID:9256 lung cancer lung_cancer Lung Cancer NRAS DOID:3908 basal cell carcinoma basal_cell_carcinoma Basal Cell Carcinoma SMO DOID:2513 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma HRAS DOID:916 waardenburg's syndrome waardenburgs_syndrome Waardenburg's Syndrome SOX10 DOID:9258 breast cancer breast_cancer Breast Cancer MTOR DOID:3459 astrocytoma astrocytoma Astrocytoma FGFR1 DOID:3069 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness GJB2 DOID:0050563 carney triad carney_triad Carney Triad SDHC charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease IGHMBP2 DOID:10595 frontotemporal dementia frontotemporal_dementia Frontotemporal Dementia GRN DOID:9255 muscular dystrophy-dystroglycanopathy muscular_dystrophy_dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy FKRP DOID:0050588 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy DYNC2H1 DOID:0050592 macular degeneration, age-related, 1 macular_degeneration_age_related_1 Macular Degeneration, Age-Related, 1 ABCA4 DOID:4448 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease SH3TC2 DOID:10595 tay-sachs disease tay_sachs_disease Tay-Sachs Disease GM2A DOID:3320 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome RAPSN DOID:3635 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma NRAS DOID:916 peeling skin syndrome peeling_skin_syndrome Peeling Skin Syndrome TGM5 DOID:0060283 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial APOB DOID:13810 endometrial cancer endometrial_cancer Endometrial Cancer FGFR2 DOID:2871 ovarian cancer ovarian_cancer Ovarian Cancer KRAS DOID:2394 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma TP53 DOID:6171 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma TP53 DOID:3907 focal segmental glomerulosclerosis focal_segmental_glomerulosclerosis Focal Segmental Glomerulosclerosis NPHS2 DOID:1312 intervertebral disc disease intervertebral_disc_disease Intervertebral Disc Disease COL9A2 pulmonary hypertension pulmonary_hypertension Pulmonary Hypertension ACVRL1 DOID:6432 hemochromatosis, type 1 hemochromatosis_type_1_2 Hemochromatosis, Type 1 HAMP DOID:2352 dysfibrinogenemia dysfibrinogenemia Dysfibrinogenemia FGA griscelli syndrome griscelli_syndrome Griscelli Syndrome RAB27A DOID:0060831 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy SCN5A DOID:12930 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease HSPB8 DOID:10595 hemophagocytic lymphohistiocytosis hemophagocytic_lymphohistiocytosis Hemophagocytic Lymphohistiocytosis UNC13D DOID:0050120 acanthosis nigricans acanthosis_nigricans Acanthosis Nigricans FGFR3 DOID:3138 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy DMD DOID:12930 breast cancer breast_cancer Breast Cancer HRAS DOID:3459 cystic kidney disease cystic_kidney_disease Cystic Kidney Disease PKHD1 DOID:2975 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CPLANE1 DOID:0110980 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy TPM1 DOID:11984 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 OPTN DOID:332 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy IFT80 DOID:0050592 hereditary angioedema hereditary_angioedema Hereditary Angioedema F12 DOID:14735 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma PIK3CA DOID:6171 pineoblastoma pineoblastoma Pineoblastoma DICER1 DOID:1664 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma TERT DOID:916 congenital hypothyroidism congenital_hypothyroidism Congenital Hypothyroidism TPO DOID:0050328 hemoglobinopathy hemoglobinopathy Hemoglobinopathy HBB DOID:2860 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma PIK3CA DOID:3907 primary hyperparathyroidism primary_hyperparathyroidism Primary Hyperparathyroidism MEN1 DOID:11202 distal arthrogryposis distal_arthrogryposis Distal Arthrogryposis TNNI2 DOID:0050646 hereditary elliptocytosis hereditary_elliptocytosis Hereditary Elliptocytosis EPB41 DOID:2373 ichthyosis ichthyosis Ichthyosis ALOX12B DOID:1697 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in PMM2 DOID:5212 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome DOK7 DOID:3635 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CEP41 DOID:0110980 glucose transporter type 1 deficiency syndrome glucose_transporter_type_1_deficiency_syndrome Glucose Transporter Type 1 Deficiency Syndrome SLC2A1 dentinogenesis imperfecta dentinogenesis_imperfecta Dentinogenesis Imperfecta COL1A1 DOID:4154 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma PTEN DOID:6171 megaloblastic anemia megaloblastic_anemia Megaloblastic Anemia AMN DOID:13382 crouzon syndrome crouzon_syndrome Crouzon Syndrome FGFR3 DOID:2339 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma TP53 DOID:4006 tangier disease tangier_disease Tangier Disease APOA1 DOID:1388 gallbladder cancer gallbladder_cancer Gallbladder Cancer TP53 DOID:4948 pulmonary fibrosis, idiopathic pulmonary_fibrosis_idiopathic Pulmonary Fibrosis, Idiopathic RTEL1 DOID:0050156 dysferlinopathy dysferlinopathy Dysferlinopathy DYSF dementia dementia Dementia PSEN1 DOID:1307 kidney cancer kidney_cancer Kidney Cancer MET DOID:263 ovarian cancer ovarian_cancer Ovarian Cancer PTEN DOID:2394 nephronophthisis nephronophthisis Nephronophthisis GLIS2 DOID:12712 coenzyme q10 deficiency disease coenzyme_q10_deficiency_disease Coenzyme Q10 Deficiency Disease COQ2 DOID:0050730 focal segmental glomerulosclerosis focal_segmental_glomerulosclerosis Focal Segmental Glomerulosclerosis WT1 DOID:1312 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome AGRN DOID:3635 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 EGFR DOID:3910 pik3ca-related overgrowth spectrum pik3ca_related_overgrowth_spectrum Pik3ca-Related Overgrowth Spectrum PIK3CA kartagener syndrome kartagener_syndrome Kartagener Syndrome DNAH5 DOID:0050144 glucosephosphate dehydrogenase deficiency glucosephosphate_dehydrogenase_deficiency Glucosephosphate Dehydrogenase Deficiency G6PD DOID:2862 orofaciodigital syndrome orofaciodigital_syndrome Orofaciodigital Syndrome TMEM107 DOID:4501 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders POLG ocular albinism ocular_albinism Ocular Albinism TYR DOID:0050633 angioedema angioedema Angioedema F12 DOID:1558 t-cell prolymphocytic leukemia t_cell_prolymphocytic_leukemia T-Cell Prolymphocytic Leukemia ATM charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e MFN2 DOID:0110171 hemolytic anemia hemolytic_anemia Hemolytic Anemia HBB DOID:583 ovarian cancer ovarian_cancer Ovarian Cancer BRAF DOID:2394 cryptogenic cirrhosis cryptogenic_cirrhosis Cryptogenic Cirrhosis KRT8 nephronophthisis nephronophthisis Nephronophthisis TTC21B DOID:12712 limb-girdle muscular dystrophy limb_girdle_muscular_dystrophy Limb-Girdle Muscular Dystrophy FKRP hematologic cancer hematologic_cancer Hematologic Cancer ETV6 DOID:2531 brachydactyly brachydactyly Brachydactyly GNAS DOID:0050581 atrial fibrillation atrial_fibrillation Atrial Fibrillation SCN5A DOID:0060224 pseudohermaphroditism pseudohermaphroditism Pseudohermaphroditism LHCGR DOID:3765 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders TWNK ovarian cancer ovarian_cancer Ovarian Cancer BRIP1 DOID:2394 microphthalmia microphthalmia Microphthalmia PAX6 DOID:10629 brain cancer brain_cancer Brain Cancer TP53 DOID:1319 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness MYO15A DOID:0050563 cockayne syndrome cockayne_syndrome Cockayne Syndrome ERCC1 DOID:2962 ovarian epithelial cancer ovarian_epithelial_cancer Ovarian Epithelial Cancer PIK3CA hemolytic anemia hemolytic_anemia Hemolytic Anemia SPTB DOID:583 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck TP53 DOID:5520 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy TNNI3 DOID:12930 myotonia myotonia Myotonia CLCN1 kartagener syndrome kartagener_syndrome Kartagener Syndrome DRC1 DOID:0050144 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma BRAF DOID:3907 combined pituitary hormone deficiency combined_pituitary_hormone_deficiency Combined Pituitary Hormone Deficiency PROP1 hemochromatosis, type 1 hemochromatosis_type_1_2 Hemochromatosis, Type 1 TFR2 DOID:2352 amelogenesis imperfecta amelogenesis_imperfecta Amelogenesis Imperfecta GPR68 DOID:2187 muscular dystrophy muscular_dystrophy Muscular Dystrophy CAPN3 DOID:9884 familial hypocalciuric hypercalcemia familial_hypocalciuric_hypercalcemia Familial Hypocalciuric Hypercalcemia CASR DOID:0060699 myopia myopia Myopia COL2A1 DOID:11830 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 HRAS DOID:3910 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness TMC1 DOID:0050563 short-rib thoracic dysplasia 3 with or without polydactyly short_rib_thoracic_dysplasia_3_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly NEK1 DOID:0110087 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis CLN6 DOID:14503 myofibrillar myopathy myofibrillar_myopathy Myofibrillar Myopathy LDB3 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy WDR35 DOID:0050592 loeys-dietz syndrome loeys_dietz_syndrome Loeys-Dietz Syndrome TGFBR2 DOID:0050466 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 TP53 DOID:3910 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness TMPRSS3 DOID:0050563 hemolytic uremic syndrome, atypical 1 hemolytic_uremic_syndrome_atypical_1 Hemolytic Uremic Syndrome, Atypical 1 CFHR4 DOID:0080301 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome CHEK2 DOID:5683 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome BARD1 DOID:5683 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome BRIP1 DOID:5683 hypoglycemia hypoglycemia Hypoglycemia G6PC DOID:9993 microcephaly microcephaly Microcephaly PQBP1 DOID:10907 microphthalmia, syndromic 1 microphthalmia_syndromic_1 Microphthalmia, Syndromic 1 BCOR leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid NRAS DOID:9119 arrhythmogenic right ventricular cardiomyopathy arrhythmogenic_right_ventricular_cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy TMEM43 DOID:0050431 thyroid cancer thyroid_cancer Thyroid Cancer KRAS DOID:3963 hematologic cancer hematologic_cancer Hematologic Cancer KIT DOID:2531 pancreas adenocarcinoma pancreas_adenocarcinoma Pancreas Adenocarcinoma SMAD4 DOID:4074 schindler disease schindler_disease Schindler Disease NAGA glioblastoma glioblastoma Glioblastoma BRAF hemochromatosis, type 1 hemochromatosis_type_1_2 Hemochromatosis, Type 1 HJV DOID:2352 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis CLN8 DOID:14503 skin melanoma skin_melanoma Skin Melanoma NRAS DOID:8923 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis DNAJC5 DOID:14503 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy DSP DOID:12930 gangliosidosis gm1 gangliosidosis_gm1 Gangliosidosis Gm1 GLB1 DOID:3322 ovarian serous cystadenocarcinoma ovarian_serous_cystadenocarcinoma Ovarian Serous Cystadenocarcinoma TP53 DOID:5746 multiple endocrine neoplasia, type i multiple_endocrine_neoplasia_type_i Multiple Endocrine Neoplasia, Type I RET DOID:10017 glioblastoma glioblastoma Glioblastoma NRAS bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 BBS2 DOID:0110123 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 ERBB2 DOID:3910 neuroblastoma neuroblastoma Neuroblastoma TP53 DOID:769 autism autism Autism SCN2A DOID:12849 short qt syndrome short_qt_syndrome Short Qt Syndrome KCNJ2 DOID:0050793 neurofibroma neurofibroma Neurofibroma NF1 DOID:962 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome TP53 DOID:0050908 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma HRAS DOID:3907 motor neuron disease motor_neuron_disease Motor Neuron Disease TARDBP DOID:231 motor neuron disease motor_neuron_disease Motor Neuron Disease SOD1 DOID:231 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma EGFR DOID:3907 short qt syndrome short_qt_syndrome Short Qt Syndrome KCNQ1 DOID:0050793 hemiplegia hemiplegia Hemiplegia ATP1A3 DOID:10969 primary hyperparathyroidism primary_hyperparathyroidism Primary Hyperparathyroidism PTH DOID:11202 rhizomelic chondrodysplasia punctata rhizomelic_chondrodysplasia_punctata Rhizomelic Chondrodysplasia Punctata PEX5 DOID:2580 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome ECHS1 DOID:3652 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome IDH2 DOID:0050908 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset LRRK2 DOID:14330 medulloblastoma medulloblastoma Medulloblastoma SMO DOID:0050902 mitochondrial complex iii deficiency mitochondrial_complex_iii_deficiency Mitochondrial Complex Iii Deficiency UQCRB DOID:0111139 pulmonary fibrosis, idiopathic pulmonary_fibrosis_idiopathic Pulmonary Fibrosis, Idiopathic TERC DOID:0050156 hereditary spastic paraplegia hereditary_spastic_paraplegia Hereditary Spastic Paraplegia NIPA1 DOID:2476 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease LRSAM1 DOID:10595 pulmonary hypertension pulmonary_hypertension Pulmonary Hypertension KCNK3 DOID:6432 skin melanoma skin_melanoma Skin Melanoma BRAF DOID:8923 short qt syndrome short_qt_syndrome Short Qt Syndrome KCNH2 DOID:0050793 hereditary spastic paraplegia hereditary_spastic_paraplegia Hereditary Spastic Paraplegia KIF5A DOID:2476 double outlet right ventricle double_outlet_right_ventricle Double Outlet Right Ventricle GDF1 DOID:6406 enhanced s-cone syndrome enhanced_s_cone_syndrome Enhanced S-Cone Syndrome NRL DOID:0090059 neonatal diabetes mellitus neonatal_diabetes_mellitus Neonatal Diabetes Mellitus INS DOID:11717 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome TREX1 DOID:0050629 myopathy myopathy Myopathy TTN DOID:423 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome SCN4A DOID:3635 parathyroid adenoma parathyroid_adenoma Parathyroid Adenoma CDC73 DOID:7608 long qt syndrome long_qt_syndrome Long Qt Syndrome CAV3 DOID:2843 hyperinsulinism hyperinsulinism Hyperinsulinism HNF4A DOID:2018 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome RNASEH2B DOID:0050629 ehlers-danlos syndrome, classic type ehlers_danlos_syndrome_classic_type Ehlers-Danlos Syndrome, Classic Type COL1A2 double outlet right ventricle double_outlet_right_ventricle Double Outlet Right Ventricle ZFPM2 DOID:6406 disorders of intracellular cobalamin metabolism disorders_of_intracellular_cobalamin_metabolism Disorders of Intracellular Cobalamin Metabolism MMACHC asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy TTC21B DOID:0050592 breast-ovarian cancer, familial 1 breast_ovarian_cancer_familial_1_2 Breast-Ovarian Cancer, Familial 1 BRCA2 epileptic encephalopathy, early infantile, 1 epileptic_encephalopathy_early_infantile_1 Epileptic Encephalopathy, Early Infantile, 1 TBC1D24 ehlers-danlos syndrome, classic type, 1 ehlers_danlos_syndrome_classic_type_1 Ehlers-Danlos Syndrome, Classic Type, 1 COL1A2 myopia myopia Myopia FBN1 DOID:11830 spinal muscular atrophy spinal_muscular_atrophy Spinal Muscular Atrophy BICD2 DOID:12377 saethre-chotzen syndrome saethre_chotzen_syndrome Saethre-Chotzen Syndrome FGFR3 DOID:14768 charcot-marie-tooth disease and deafness charcot_marie_tooth_disease_and_deafness Charcot-Marie-Tooth Disease and Deafness MPZ DOID:0110153 loeys-dietz syndrome 4 loeys_dietz_syndrome_4 Loeys-Dietz Syndrome 4 TGFB3 spinal muscular atrophy spinal_muscular_atrophy Spinal Muscular Atrophy DYNC1H1 DOID:12377 hereditary spastic paraplegia hereditary_spastic_paraplegia Hereditary Spastic Paraplegia CYP7B1 DOID:2476 parathyroid adenoma parathyroid_adenoma Parathyroid Adenoma MEN1 DOID:7608 penis agenesis penis_agenesis Penis Agenesis SRD5A2 distal arthrogryposis distal_arthrogryposis Distal Arthrogryposis PIEZO2 DOID:0050646 retinal degeneration retinal_degeneration Retinal Degeneration RPE65 DOID:8466 cockayne syndrome cockayne_syndrome Cockayne Syndrome ERCC4 DOID:2962 holt-oram syndrome holt_oram_syndrome Holt-Oram Syndrome TGFB2 DOID:0060468 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 MYH7 severe congenital neutropenia severe_congenital_neutropenia Severe Congenital Neutropenia JAGN1 DOID:0050590 aortic valve disease 2 aortic_valve_disease_2 Aortic Valve Disease 2 TBX5 DOID:1712 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young PDX1 DOID:0050524 seizure disorder seizure_disorder Seizure Disorder SCN1A atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 DSP pseudohermaphroditism pseudohermaphroditism Pseudohermaphroditism HSD17B3 DOID:3765 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 KCNQ2 DOID:0050709 clear cell renal cell carcinoma clear_cell_renal_cell_carcinoma Clear Cell Renal Cell Carcinoma PBRM1 DOID:4467 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CEP290 DOID:0110980 pituitary hormone deficiency, combined, 1 pituitary_hormone_deficiency_combined_1_2 Pituitary Hormone Deficiency, Combined, 1 HESX1 arrhythmogenic right ventricular cardiomyopathy arrhythmogenic_right_ventricular_cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy CTNNA3 DOID:0050431 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RP9 DOID:10584 nephronophthisis nephronophthisis Nephronophthisis IQCB1 DOID:12712 melanoma, cutaneous malignant 1 melanoma_cutaneous_malignant_1_2 Melanoma, Cutaneous Malignant 1 CDKN2A DOID:6846 ovarian serous cystadenocarcinoma ovarian_serous_cystadenocarcinoma Ovarian Serous Cystadenocarcinoma PIK3CA DOID:5746 progressive myoclonic epilepsy type 5 progressive_myoclonic_epilepsy_type_5 Progressive Myoclonic Epilepsy Type 5 PRICKLE2 hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic_hypoglycemia_familial_2_2 Hyperinsulinemic Hypoglycemia, Familial, 2 ABCC8 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 MYBPC3 pulmonary alveolar proteinosis pulmonary_alveolar_proteinosis Pulmonary Alveolar Proteinosis MARS DOID:12120 pancreas adenocarcinoma pancreas_adenocarcinoma Pancreas Adenocarcinoma HRAS DOID:4074 auriculocondylar syndrome 1 auriculocondylar_syndrome_1 Auriculocondylar Syndrome 1 PLCB4 medulloblastoma medulloblastoma Medulloblastoma PIK3CA DOID:0050902 ovarian serous cystadenocarcinoma ovarian_serous_cystadenocarcinoma Ovarian Serous Cystadenocarcinoma NRAS DOID:5746 hyperaldosteronism, familial, type ii hyperaldosteronism_familial_type_ii Hyperaldosteronism, Familial, Type Ii CLCN2 coronary heart disease 1 coronary_heart_disease_1 Coronary Heart Disease 1 APOC3 robinow syndrome robinow_syndrome Robinow Syndrome DVL3 DOID:0060254 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder GNB5 DOID:1094 li-fraumeni syndrome 2 li_fraumeni_syndrome_2 Li-Fraumeni Syndrome 2 TP53 charcot-marie-tooth disease and deafness charcot_marie_tooth_disease_and_deafness Charcot-Marie-Tooth Disease and Deafness EGR2 DOID:0110153 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 MKKS DOID:0110123 hirschsprung disease ganglioneuroblastoma hirschsprung_disease_ganglioneuroblastoma Hirschsprung Disease Ganglioneuroblastoma PHOX2B mbd5 haploinsufficiency mbd5_haploinsufficiency Mbd5 Haploinsufficiency MBD5 focal epilepsy focal_epilepsy Focal Epilepsy SCN1A DOID:2234 seizure disorder seizure_disorder Seizure Disorder KCNQ2 fundus dystrophy fundus_dystrophy Fundus Dystrophy ABCA4 DOID:8501 pancreas adenocarcinoma pancreas_adenocarcinoma Pancreas Adenocarcinoma TP53 DOID:4074 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma PIK3CA DOID:9261 hereditary spastic paraplegia hereditary_spastic_paraplegia Hereditary Spastic Paraplegia SPAST DOID:2476 kidney disease kidney_disease Kidney Disease COL4A5 DOID:557 aplastic anemia aplastic_anemia Aplastic Anemia TINF2 DOID:12449 mitochondrial encephalomyopathy mitochondrial_encephalomyopathy Mitochondrial Encephalomyopathy MT-CYB DOID:890 cervical cancer cervical_cancer Cervical Cancer PIK3CA DOID:4362 centronuclear myopathy centronuclear_myopathy Centronuclear Myopathy MTM1 DOID:14717 brachydactyly brachydactyly Brachydactyly PRMT7 DOID:0050581 adenoid cystic carcinoma adenoid_cystic_carcinoma Adenoid Cystic Carcinoma PIK3CA DOID:4866 myopathy myopathy Myopathy EMD DOID:423 pelizaeus-merzbacher-like disease pelizaeus_merzbacher_like_disease Pelizaeus-Merzbacher-Like Disease GJC2 glaucoma, primary open angle glaucoma_primary_open_angle Glaucoma, Primary Open Angle MYOC DOID:1070 long qt syndrome long_qt_syndrome Long Qt Syndrome RYR2 DOID:2843 brain stem glioma brain_stem_glioma Brain Stem Glioma TP53 DOID:4202 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 SCN1A DOID:0050709 hydrocephalus hydrocephalus Hydrocephalus MPDZ DOID:10908 suppression of tumorigenicity 12 suppression_of_tumorigenicity_12 Suppression of Tumorigenicity 12 PTEN DOID:2526 epilepsy, idiopathic generalized epilepsy_idiopathic_generalized Epilepsy, Idiopathic Generalized SCN1A DOID:1827 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma SMAD4 DOID:3717 spinal muscular atrophy, type i spinal_muscular_atrophy_type_i Spinal Muscular Atrophy, Type I IGHMBP2 DOID:13137 cerebral creatine deficiency syndrome cerebral_creatine_deficiency_syndrome Cerebral Creatine Deficiency Syndrome GAMT DOID:0050798 normokalemic periodic paralysis normokalemic_periodic_paralysis Normokalemic Periodic Paralysis SCN4A colorectal cancer colorectal_cancer Colorectal Cancer PPARG DOID:9256 esophageal cancer esophageal_cancer Esophageal Cancer PIK3CA DOID:5041 cerebral palsy cerebral_palsy Cerebral Palsy ADD3 DOID:1969 holoprosencephaly holoprosencephaly Holoprosencephaly FGFR1 DOID:4621 hyper ige syndrome hyper_ige_syndrome_2 Hyper Ige Syndrome STAT3 gallbladder cancer gallbladder_cancer Gallbladder Cancer PIK3CA DOID:4948 trichothiodystrophy 1, photosensitive trichothiodystrophy_1_photosensitive Trichothiodystrophy 1, Photosensitive GTF2H5 DOID:2960 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PHYH DOID:10584 myofibrillar myopathy myofibrillar_myopathy Myofibrillar Myopathy MYOT constipation constipation Constipation RET DOID:2089 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma TP53 DOID:3717 cerebro-oculo-facio-skeletal syndrome cerebro_oculo_facio_skeletal_syndrome_cofs Cerebro-Oculo-Facio-Skeletal Syndrome ERCC2 prostate cancer prostate_cancer Prostate Cancer TP53 DOID:10286 mental retardation, x-linked, syndromic, martin-probst type mental_retardation_x_linked_syndromic_martin_probst_type Mental Retardation, X-Linked, Syndromic, Martin-Probst Type RAB40AL DOID:0060830 restrictive cardiomyopathy restrictive_cardiomyopathy Restrictive Cardiomyopathy MYH7 DOID:397 myopathy myopathy Myopathy SCN4A DOID:423 thymoma thymoma Thymoma KIT DOID:3275 scoliosis scoliosis Scoliosis CHD7 DOID:0060249 systemic mastocytosis systemic_mastocytosis Systemic Mastocytosis KIT DOID:349 thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 BRAF DOID:3969 lens subluxation lens_subluxation Lens Subluxation FBN1 DOID:11364 ewing sarcoma ewing_sarcoma Ewing Sarcoma ABCC6 DOID:5614 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MRPS34 DOID:3652 methylmalonic aciduria, cblb type methylmalonic_aciduria_cblb_type Methylmalonic Aciduria, Cblb Type MMAA DOID:14749 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease DYNC1H1 DOID:10595 cervical cancer cervical_cancer Cervical Cancer PTEN DOID:4362 glioblastoma glioblastoma Glioblastoma HRAS holoprosencephaly holoprosencephaly Holoprosencephaly FGF8 DOID:4621 breast cancer breast_cancer Breast Cancer CYP17A1 DOID:3459 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma PIK3CA DOID:3717 hirschsprung disease 1 hirschsprung_disease_1 Hirschsprung Disease 1 SOX10 DOID:10487 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic HRAS DOID:1040 hereditary spastic paraplegia hereditary_spastic_paraplegia Hereditary Spastic Paraplegia SPG11 DOID:2476 long qt syndrome long_qt_syndrome Long Qt Syndrome CACNA1C DOID:2843 myopathy myopathy Myopathy DMD DOID:423 cardiac arrhythmia cardiac_arrhythmia Cardiac Arrhythmia TANGO2 cryptorchidism, unilateral or bilateral cryptorchidism_unilateral_or_bilateral Cryptorchidism, Unilateral or Bilateral RXFP2 DOID:11383 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck PIK3CA DOID:5520 multiple mitochondrial dysfunctions syndrome multiple_mitochondrial_dysfunctions_syndrome Multiple Mitochondrial Dysfunctions Syndrome ISCA1 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease AARS DOID:10595 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma KRAS DOID:3907 cervical cancer cervical_cancer Cervical Cancer HRAS DOID:4362 rhabdomyosarcoma rhabdomyosarcoma Rhabdomyosarcoma ALK DOID:3247 megakaryocytic leukemia megakaryocytic_leukemia Megakaryocytic Leukemia GATA1 DOID:8761 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RP2 DOID:10584 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma PTEN DOID:3717 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 PIK3CA DOID:3910 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 BRAF DOID:3910 loeys-dietz syndrome loeys_dietz_syndrome Loeys-Dietz Syndrome FBN1 DOID:0050466 lynch syndrome lynch_syndrome Lynch Syndrome EPCAM DOID:3883 carney triad carney_triad Carney Triad SDHB fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a BRCA1 DOID:13636 muscular dystrophy-dystroglycanopathy muscular_dystrophy_dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy ISPD DOID:0050588 generalized epilepsy with febrile seizures plus generalized_epilepsy_with_febrile_seizures_plus Generalized Epilepsy with Febrile Seizures Plus SCN1B DOID:0060170 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma HRAS DOID:3717 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy WDR19 DOID:0050592 muscular dystrophy muscular_dystrophy Muscular Dystrophy GMPPB DOID:9884 cervical cancer cervical_cancer Cervical Cancer TP53 DOID:4362 skin disease skin_disease Skin Disease COL7A1 DOID:37 skin disease skin_disease Skin Disease FLG DOID:37 myopathy myopathy Myopathy ANO5 DOID:423 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy WDR60 DOID:0050592 hypochondrogenesis hypochondrogenesis Hypochondrogenesis COL2A1 DOID:0080044 hereditary spastic paraplegia hereditary_spastic_paraplegia Hereditary Spastic Paraplegia ZFYVE26 DOID:2476 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RPGRIP1 DOID:10584 split-hand/foot malformation 1 split_hand_foot_malformation_1_3 Split-Hand/foot Malformation 1 DLX5 DOID:0090021 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy WDR34 DOID:0050592 chromophobe renal cell carcinoma chromophobe_renal_cell_carcinoma Chromophobe Renal Cell Carcinoma FLCN DOID:4471 paroxysmal nocturnal hemoglobinuria paroxysmal_nocturnal_hemoglobinuria Paroxysmal Nocturnal Hemoglobinuria PIGA DOID:0060284 cleft palate, isolated cleft_palate_isolated Cleft Palate, Isolated SATB2 DOID:674 grade iii astrocytoma grade_iii_astrocytoma Grade Iii Astrocytoma TP53 DOID:3078 myopathy myopathy Myopathy DNM2 DOID:423 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e LMNA DOID:0110171 lung cancer lung_cancer Lung Cancer DDR2 DOID:3908 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS8 DOID:0060536 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-ATP6 pulmonary hypertension pulmonary_hypertension Pulmonary Hypertension ENG DOID:6432 double outlet right ventricle double_outlet_right_ventricle Double Outlet Right Ventricle NKX2-5 DOID:6406 colorectal cancer colorectal_cancer Colorectal Cancer RAF1 DOID:9256 xeroderma pigmentosum, variant type xeroderma_pigmentosum_variant_type Xeroderma Pigmentosum, Variant Type ERCC5 DOID:0110847 hereditary spastic paraplegia hereditary_spastic_paraplegia Hereditary Spastic Paraplegia GBA2 DOID:2476 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 SMAD4 DOID:3910 familial periodic paralysis familial_periodic_paralysis Familial Periodic Paralysis KCNJ2 DOID:1029 focal segmental glomerulosclerosis focal_segmental_glomerulosclerosis Focal Segmental Glomerulosclerosis SMARCAL1 DOID:1312 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction TTN DOID:0060480 myopathy myopathy Myopathy GAA DOID:423 hereditary spastic paraplegia hereditary_spastic_paraplegia Hereditary Spastic Paraplegia KIF1A DOID:2476 parietal foramina parietal_foramina Parietal Foramina ALX4 DOID:0060285 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder MECP2 DOID:1094 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome EOGT DOID:0060227 tooth agenesis tooth_agenesis Tooth Agenesis PAX9 DOID:0050591 breast adenocarcinoma breast_adenocarcinoma Breast Adenocarcinoma PIK3CA DOID:3458 hepatoblastoma hepatoblastoma Hepatoblastoma APC DOID:687 kartagener syndrome kartagener_syndrome Kartagener Syndrome ARMC4 DOID:0050144 polycystic liver disease polycystic_liver_disease Polycystic Liver Disease PRKCSH DOID:0050770 meniere disease meniere_disease Meniere Disease FAM136A DOID:9849 cold-induced sweating syndrome cold_induced_sweating_syndrome Cold-Induced Sweating Syndrome CRLF1 DOID:0060294 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid IDH1 DOID:9119 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid IDH2 DOID:9119 hallermann-streiff syndrome hallermann_streiff_syndrome Hallermann-Streiff Syndrome GJA1 DOID:4534 amenorrhea amenorrhea Amenorrhea FSHR DOID:13938 kartagener syndrome kartagener_syndrome Kartagener Syndrome CCDC40 DOID:0050144 medulloblastoma medulloblastoma Medulloblastoma FGFR1 DOID:0050902 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 TNNI3 chromophobe renal cell carcinoma chromophobe_renal_cell_carcinoma Chromophobe Renal Cell Carcinoma HNF1B DOID:4471 hypertrichosis hypertrichosis Hypertrichosis ARID1B DOID:420 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young PAX4 DOID:0050524 arrhythmogenic right ventricular cardiomyopathy arrhythmogenic_right_ventricular_cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy SCN5A DOID:0050431 medulloblastoma medulloblastoma Medulloblastoma NRAS DOID:0050902 skin melanoma skin_melanoma Skin Melanoma GNAQ DOID:8923 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 TNNT2 perrault syndrome perrault_syndrome Perrault Syndrome SGO2 DOID:0050857 colorectal cancer colorectal_cancer Colorectal Cancer BUB1 DOID:9256 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid TP53 DOID:9119 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma PIK3CA DOID:4006 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness OTOA DOID:0050563 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness WFS1 DOID:0050563 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa BBS1 DOID:10584 primary hyperparathyroidism primary_hyperparathyroidism Primary Hyperparathyroidism CDKN1B DOID:11202 kartagener syndrome kartagener_syndrome Kartagener Syndrome ZMYND10 DOID:0050144 fundus dystrophy fundus_dystrophy Fundus Dystrophy LCA5 DOID:8501 sleep apnea sleep_apnea Sleep Apnea AHDC1 DOID:0050847 kallmann syndrome kallmann_syndrome Kallmann Syndrome ANOS1 DOID:3614 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid HRAS DOID:9119 cd40 ligand deficiency cd40_ligand_deficiency Cd40 Ligand Deficiency CD40LG DOID:6620 hematologic cancer hematologic_cancer Hematologic Cancer CBL DOID:2531 myeloma, multiple myeloma_multiple Myeloma, Multiple TP53 DOID:9538 kartagener syndrome kartagener_syndrome Kartagener Syndrome DNAI2 DOID:0050144 kartagener syndrome kartagener_syndrome Kartagener Syndrome LRRC6 DOID:0050144 methylmalonic aciduria, cblb type methylmalonic_aciduria_cblb_type Methylmalonic Aciduria, Cblb Type MUT DOID:14749 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness LOXHD1 DOID:0050563 myeloma, multiple myeloma_multiple Myeloma, Multiple HRAS DOID:9538 squamous cell carcinoma squamous_cell_carcinoma Squamous Cell Carcinoma BRAF DOID:1749 familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer APC skin melanoma skin_melanoma Skin Melanoma KIT DOID:8923 bilirubin metabolic disorder bilirubin_metabolic_disorder Bilirubin Metabolic Disorder UGT1A1 DOID:2741 ganglioglioma ganglioglioma Ganglioglioma BRAF DOID:5078 breast cancer breast_cancer Breast Cancer SMAD4 DOID:3459 neuromuscular disease neuromuscular_disease Neuromuscular Disease TRPV4 DOID:440 bone marrow cancer bone_marrow_cancer Bone Marrow Cancer JAK2 DOID:4960 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung PIK3CA DOID:5411 brain cancer brain_cancer Brain Cancer PIK3CA DOID:1319 morbid obesity morbid_obesity Morbid Obesity PPARG DOID:11981 ptosis ptosis Ptosis RYR1 DOID:0060260 microcephaly microcephaly Microcephaly DYRK1A DOID:10907 ewing sarcoma ewing_sarcoma Ewing Sarcoma VPS13B DOID:5614 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot NOTCH1 DOID:6419 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-CO3 DOID:3652 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma FGFR2 DOID:3907 parietal foramina parietal_foramina Parietal Foramina MSX2 DOID:0060285 perrault syndrome perrault_syndrome Perrault Syndrome CLDN14 DOID:0050857 hypoadrenocorticism, familial hypoadrenocorticism_familial Hypoadrenocorticism, Familial ABCD1 DOID:13774 ventricular septal defect ventricular_septal_defect Ventricular Septal Defect TBX5 DOID:1657 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma FGFR3 DOID:3907 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency SURF1 DOID:3762 stroke, ischemic stroke_ischemic Stroke, Ischemic NOTCH3 DOID:3526 diaphragmatic hernia, congenital diaphragmatic_hernia_congenital Diaphragmatic Hernia, Congenital GATA6 DOID:3827 fundus dystrophy fundus_dystrophy Fundus Dystrophy USH2A DOID:8501 kearns-sayre syndrome kearns_sayre_syndrome Kearns-Sayre Syndrome MT-TL1 DOID:539 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PANK2 DOID:10584 esophageal cancer esophageal_cancer Esophageal Cancer SMAD4 DOID:5041 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck HRAS DOID:5520 glycoproteinosis glycoproteinosis Glycoproteinosis NEU1 DOID:3343 myopathy myopathy Myopathy TRIM32 DOID:423 myeloma, multiple myeloma_multiple Myeloma, Multiple NRAS DOID:9538 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 SCN8A DOID:0050709 wiskott-aldrich syndrome wiskott_aldrich_syndrome Wiskott-Aldrich Syndrome WIPF1 DOID:9169 thyroid carcinoma, familial medullary thyroid_carcinoma_familial_medullary Thyroid Carcinoma, Familial Medullary MEN1 DOID:3973 dystonia dystonia Dystonia C19orf12 DOID:543 cold-induced sweating syndrome cold_induced_sweating_syndrome Cold-Induced Sweating Syndrome CLCF1 DOID:0060294 inflammatory bowel disease 28 inflammatory_bowel_disease_28 Inflammatory Bowel Disease 28 IL10RA DOID:0110899 lipoid congenital adrenal hyperplasia lipoid_congenital_adrenal_hyperplasia Lipoid Congenital Adrenal Hyperplasia CYP11B1 DOID:0050811 cryopyrin-associated periodic syndrome cryopyrin_associated_periodic_syndrome Cryopyrin-Associated Periodic Syndrome NLRP3 follicular lymphoma follicular_lymphoma Follicular Lymphoma BCL10 DOID:0050873 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 CDK4 DOID:3910 genetic prion diseases genetic_prion_diseases Genetic Prion Diseases PRNP xeroderma pigmentosum, variant type xeroderma_pigmentosum_variant_type Xeroderma Pigmentosum, Variant Type XPC DOID:0110847 myeloma, multiple myeloma_multiple Myeloma, Multiple CDK4 DOID:9538 microcephaly microcephaly Microcephaly SLC2A1 DOID:10907 cryptophthalmos cryptophthalmos Cryptophthalmos FREM2 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 PTEN DOID:4465 niemann-pick disease, type c1 niemann_pick_disease_type_c1_2 Niemann-Pick Disease, Type C1 NPC2 DOID:0070113 central hypoventilation syndrome, congenital central_hypoventilation_syndrome_congenital Central Hypoventilation Syndrome, Congenital BDNF DOID:0060731 suppression of tumorigenicity 12 suppression_of_tumorigenicity_12 Suppression of Tumorigenicity 12 TP53 DOID:2526 membranous nephropathy membranous_nephropathy Membranous Nephropathy MME DOID:10976 pancreas adenocarcinoma pancreas_adenocarcinoma Pancreas Adenocarcinoma PIK3CA DOID:4074 strabismus strabismus Strabismus NALCN DOID:540 skin melanoma skin_melanoma Skin Melanoma MAP2K1 DOID:8923 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial NRAS DOID:0060060 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma PTEN DOID:3907 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic BRAF DOID:1040 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung PTEN DOID:5411 cardiac arrhythmia cardiac_arrhythmia Cardiac Arrhythmia KCNH2 epidermolysis bullosa simplex, generalized epidermolysis_bullosa_simplex_generalized Epidermolysis Bullosa Simplex, Generalized KLHL24 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 NRAS DOID:3910 sclerosteosis sclerosteosis Sclerosteosis SOST DOID:0060251 polycystic kidney disease 4 with or without polycystic liver disease polycystic_kidney_disease_4_with_or_without_polycystic_liver_disease Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease PKD2 DOID:0110861 legius syndrome legius_syndrome Legius Syndrome NF1 polycystic kidney disease 4 with or without polycystic liver disease polycystic_kidney_disease_4_with_or_without_polycystic_liver_disease Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease PKD1 DOID:0110861 atrial heart septal defect atrial_heart_septal_defect Atrial Heart Septal Defect NKX2-5 DOID:1882 acquired idiopathic sideroblastic anemia acquired_idiopathic_sideroblastic_anemia Acquired Idiopathic Sideroblastic Anemia MT-CO1 adenoid cystic carcinoma adenoid_cystic_carcinoma Adenoid Cystic Carcinoma HRAS DOID:4866 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders SLC25A4 cardiac arrhythmia cardiac_arrhythmia Cardiac Arrhythmia KCNQ1 monogenic diabetes monogenic_diabetes Monogenic Diabetes GCK spastic paraparesis spastic_paraparesis Spastic Paraparesis SPAST cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome NIPBL DOID:11725 goldmann-favre syndrome goldmann_favre_syndrome Goldmann-Favre Syndrome NR2E3 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome WDPCP DOID:1935 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa IMPDH1 DOID:10584 monogenic diabetes monogenic_diabetes Monogenic Diabetes HNF1A leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic ETV6 rosette-forming glioneuronal tumor rosette_forming_glioneuronal_tumor Rosette-Forming Glioneuronal Tumor PIK3CA congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness ABCA4 DOID:0050534 hyper ige syndrome hyper_ige_syndrome_2 Hyper Ige Syndrome PGM3 carney triad carney_triad Carney Triad SDHA cone-rod dystrophy 2 cone_rod_dystrophy_2 Cone-Rod Dystrophy 2 UNC119 DOID:0111005 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic FLT3 kartagener syndrome kartagener_syndrome Kartagener Syndrome DNAAF2 DOID:0050144 kartagener syndrome kartagener_syndrome Kartagener Syndrome DNAAF3 DOID:0050144 kartagener syndrome kartagener_syndrome Kartagener Syndrome CFAP298 DOID:0050144 orthostatic intolerance orthostatic_intolerance Orthostatic Intolerance FBN1 DOID:988 proteus-like syndrome proteus_like_syndrome Proteus-Like Syndrome PTEN kartagener syndrome kartagener_syndrome Kartagener Syndrome RSPH4A DOID:0050144 kartagener syndrome kartagener_syndrome Kartagener Syndrome SPAG1 DOID:0050144 kartagener syndrome kartagener_syndrome Kartagener Syndrome CCDC151 DOID:0050144 kartagener syndrome kartagener_syndrome Kartagener Syndrome DNAAF1 DOID:0050144 kartagener syndrome kartagener_syndrome Kartagener Syndrome HYDIN DOID:0050144 kartagener syndrome kartagener_syndrome Kartagener Syndrome CCDC103 DOID:0050144 long qt syndrome 2 long_qt_syndrome_2 Long Qt Syndrome 2 KCNQ1 DOID:0110645 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid JAK2 DOID:8552 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness COCH DOID:0050563 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia C12orf57 oligohydramnios oligohydramnios Oligohydramnios PKHD1 DOID:12215 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRPF3 DOID:10584 kartagener syndrome kartagener_syndrome Kartagener Syndrome DNAL1 DOID:0050144 kartagener syndrome kartagener_syndrome Kartagener Syndrome DNAH1 DOID:0050144 ewing sarcoma ewing_sarcoma Ewing Sarcoma FLI1 DOID:5614 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy PTPN11 DOID:11984 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy IFT140 DOID:0050592 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial TP53 DOID:0060060 chondrosarcoma, extraskeletal myxoid chondrosarcoma_extraskeletal_myxoid Chondrosarcoma, Extraskeletal Myxoid TAF15 DOID:6496 trichothiodystrophy 1, photosensitive trichothiodystrophy_1_photosensitive Trichothiodystrophy 1, Photosensitive MPLKIP DOID:2960 alzheimer disease alzheimer_disease Alzheimer Disease MT-ND1 DOID:10652 short-rib thoracic dysplasia 3 with or without polydactyly short_rib_thoracic_dysplasia_3_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly TCTEX1D2 DOID:0110087 cardiac arrest cardiac_arrest Cardiac Arrest PLN DOID:0060319 premature ovarian failure 1 premature_ovarian_failure_1 Premature Ovarian Failure 1 MCM9 DOID:5426 myeloma, multiple myeloma_multiple Myeloma, Multiple FGFR3 DOID:9538 hypertelorism hypertelorism Hypertelorism EFNB1 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness TRIOBP DOID:0050563 colorectal cancer colorectal_cancer Colorectal Cancer BRCA2 DOID:9256 sensory peripheral neuropathy sensory_peripheral_neuropathy Sensory Peripheral Neuropathy GDAP1 DOID:2491 adrenocortical carcinoma, hereditary adrenocortical_carcinoma_hereditary Adrenocortical Carcinoma, Hereditary BRAF DOID:3948 adrenocortical carcinoma, hereditary adrenocortical_carcinoma_hereditary Adrenocortical Carcinoma, Hereditary NRAS DOID:3948 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome CAMK2B alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome EBF3 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome MECP2 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome ANKRD11 anterior segment dysgenesis 5 anterior_segment_dysgenesis_5 Anterior Segment Dysgenesis 5 CYP1B1 aortic aneurysm, familial thoracic 4 aortic_aneurysm_familial_thoracic_4 Aortic Aneurysm, Familial Thoracic 4 FBN1 ataxia and polyneuropathy, adult-onset ataxia_and_polyneuropathy_adult_onset Ataxia and Polyneuropathy, Adult-Onset EBF3 bap1 tumor predisposition syndrome bap1_tumor_predisposition_syndrome Bap1 Tumor Predisposition Syndrome PALB2 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 BBS9 DOID:0110123 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 BBS12 DOID:0110123 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 BBS10 DOID:0110123 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma HRAS DOID:4006 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma NRAS DOID:4006 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma BRAF DOID:4006 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma MAP2K1 DOID:4006 brain cancer brain_cancer Brain Cancer BRAF DOID:1319 brain cancer brain_cancer Brain Cancer NRAS DOID:1319 brain stem glioma brain_stem_glioma Brain Stem Glioma PIK3CA DOID:4202 cafe-au-lait spots, multiple cafe_au_lait_spots_multiple_2 Cafe-Au-Lait Spots, Multiple NF1 cardiomyopathy, familial hypertrophic, 1 cardiomyopathy_familial_hypertrophic_1 Cardiomyopathy, Familial Hypertrophic, 1 MYBPC3 DOID:0110307 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease PPT1 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease TPP1 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease CLN5 chromosome 10q22.3-q23.2 deletion syndrome chromosome_10q223_q232_deletion_syndrome Chromosome 10q22.3-Q23.2 Deletion Syndrome BMPR1A ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 DRC1 DOID:0110594 colorectal cancer colorectal_cancer Colorectal Cancer IDH2 DOID:9256 congenital disorder of glycosylation, type ib congenital_disorder_of_glycosylation_type_ib Congenital Disorder of Glycosylation, Type Ib SERPINA1 ehlers-danlos syndrome, hypermobility type ehlers_danlos_syndrome_hypermobility_type Ehlers-Danlos Syndrome, Hypermobility Type COL1A1 DOID:14757 ehlers-danlos syndrome, hypermobility type ehlers_danlos_syndrome_hypermobility_type Ehlers-Danlos Syndrome, Hypermobility Type FBN1 DOID:14757 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma BRAF DOID:3717 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma NRAS DOID:3717 glycogen storage disease due to glucose-6-phosphatase deficiency glycogen_storage_disease_due_to_glucose_6_phosphatase_deficiency Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency G6PC glycogen storage disease iv glycogen_storage_disease_iv Glycogen Storage Disease Iv AGL DOID:2750 hemolytic uremic syndrome, atypical 1 hemolytic_uremic_syndrome_atypical_1 Hemolytic Uremic Syndrome, Atypical 1 DGKE DOID:0080301 kagami-ogata syndrome kagami_ogata_syndrome Kagami-Ogata Syndrome MEG3 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic NRAS DOID:1040 melanoma, cutaneous malignant 1 melanoma_cutaneous_malignant_1_2 Melanoma, Cutaneous Malignant 1 STK11 DOID:6846 microcephaly microcephaly Microcephaly SBDS DOID:10907 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes MT-TQ DOID:3687 multiple endocrine neoplasia, type iv multiple_endocrine_neoplasia_type_iv Multiple Endocrine Neoplasia, Type Iv RET DOID:0080137 myeloma, multiple myeloma_multiple Myeloma, Multiple BRAF DOID:9538 myeloma, multiple myeloma_multiple Myeloma, Multiple IDH2 DOID:9538 myoclonic epilepsy of unverricht and lundborg myoclonic_epilepsy_of_unverricht_and_lundborg Myoclonic Epilepsy of Unverricht and Lundborg EPM2A myopathy, congenital, with fiber-type disproportion myopathy_congenital_with_fiber_type_disproportion Myopathy, Congenital, with Fiber-Type Disproportion MYH7 myopia myopia Myopia TYR DOID:11830 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma NRAS DOID:9261 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness MYO15A non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness TMC1 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness TMPRSS3 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness WFS1 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness LOXHD1 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness OTOA non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness GJB2 noonan syndrome 3 noonan_syndrome_3 Noonan Syndrome 3 SOS1 DOID:0060581 noonan syndrome 3 noonan_syndrome_3 Noonan Syndrome 3 PTPN11 DOID:0060581 rare adenocarcinoma of the breast rare_adenocarcinoma_of_the_breast Rare Adenocarcinoma of the Breast PIK3CA rare isolated myopia rare_isolated_myopia Rare Isolated Myopia TYR renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 TP53 DOID:4465 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 NRAS DOID:4465 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 MTOR DOID:4465 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 PIK3CA DOID:4465 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly WDR35 DOID:0110085 splenomegaly splenomegaly Splenomegaly SBDS squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck BRAF DOID:5520 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck IDH2 DOID:5520 suppression of tumorigenicity 12 suppression_of_tumorigenicity_12 Suppression of Tumorigenicity 12 BRAF DOID:2526 suppression of tumorigenicity 12 suppression_of_tumorigenicity_12 Suppression of Tumorigenicity 12 PIK3CA DOID:2526 thrombocythemia 1 thrombocythemia_1 Thrombocythemia 1 MPL thymoma, familial thymoma_familial Thymoma, Familial KIT thyrotoxic periodic paralysis 1 thyrotoxic_periodic_paralysis_1 Thyrotoxic Periodic Paralysis 1 KCNJ18 tumor predisposition syndrome tumor_predisposition_syndrome Tumor Predisposition Syndrome PALB2 zellweger spectrum disorder zellweger_spectrum_disorder Zellweger Spectrum Disorder PEX2 zellweger spectrum disorder zellweger_spectrum_disorder Zellweger Spectrum Disorder PEX1 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MARS DOID:10595 periventricular nodular heterotopia periventricular_nodular_heterotopia Periventricular Nodular Heterotopia FLNA DOID:0050454 silver-russell syndrome silver_russell_syndrome Silver-Russell Syndrome CDKN1C DOID:14681 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness POU3F4 DOID:0050563 neurilemmoma neurilemmoma Neurilemmoma SMARCB1 DOID:3192 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness GPR179 DOID:0050534 mitochondrial encephalomyopathy mitochondrial_encephalomyopathy Mitochondrial Encephalomyopathy MT-TL1 DOID:890 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness TECTA DOID:0050563 cavernous hemangioma cavernous_hemangioma Cavernous Hemangioma KRIT1 DOID:483 microcephaly microcephaly Microcephaly VPS13B DOID:10907 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young GCK DOID:0050524 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders OPA1 benign mesothelioma benign_mesothelioma Benign Mesothelioma WT1 DOID:2645 mucopolysaccharidosis iii mucopolysaccharidosis_iii Mucopolysaccharidosis Iii HGSNAT DOID:12801 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young HNF1A DOID:0050524 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness MARVELD2 DOID:0050563 angelman syndrome angelman_syndrome Angelman Syndrome CDKL5 DOID:1932 cutis laxa cutis_laxa Cutis Laxa ABCC6 DOID:3144 adrenal adenoma adrenal_adenoma Adrenal Adenoma MEN1 DOID:656 neuroblastoma neuroblastoma Neuroblastoma FGFR1 DOID:769 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness NYX DOID:0050534 deafness, autosomal recessive 12 deafness_autosomal_recessive_12 Deafness, Autosomal Recessive 12 GJB2 DOID:0110467 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid ABL1 DOID:8552 polydactyly polydactyly Polydactyly MKS1 DOID:1148 nail disease nail_disease Nail Disease FZD6 DOID:4123 coats disease coats_disease Coats Disease FZD4 DOID:7765 ovarian serous cystadenocarcinoma ovarian_serous_cystadenocarcinoma Ovarian Serous Cystadenocarcinoma HRAS DOID:5746 autosomal dominant nocturnal frontal lobe epilepsy autosomal_dominant_nocturnal_frontal_lobe_epilepsy Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CRH DOID:0060681 cone-rod dystrophy 2 cone_rod_dystrophy_2 Cone-Rod Dystrophy 2 PROM1 DOID:0111005 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CA4 DOID:10584 cavernous hemangioma cavernous_hemangioma Cavernous Hemangioma CCM2 DOID:483 silver-russell syndrome silver_russell_syndrome Silver-Russell Syndrome HMGA2 DOID:14681 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma PPP2R1A DOID:6171 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma FGFR3 DOID:4006 colorectal cancer colorectal_cancer Colorectal Cancer MSH2 DOID:9256 ovarian cancer ovarian_cancer Ovarian Cancer PALB2 DOID:2394 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MTFMT DOID:3652 colorectal cancer colorectal_cancer Colorectal Cancer MSH6 DOID:9256 squamous cell carcinoma squamous_cell_carcinoma Squamous Cell Carcinoma DDR2 DOID:1749 transient cerebral ischemia transient_cerebral_ischemia Transient Cerebral Ischemia NOTCH3 DOID:224 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis ABCA4 DOID:14791 choroid plexus cancer choroid_plexus_cancer Choroid Plexus Cancer TP53 DOID:5648 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e PMP22 DOID:0110171 hypophosphatemic rickets, x-linked recessive hypophosphatemic_rickets_x_linked_recessive Hypophosphatemic Rickets, X-Linked Recessive PHEX kabuki syndrome 1 kabuki_syndrome_1 Kabuki Syndrome 1 KMT2A DOID:0060473 bruxism bruxism Bruxism MECP2 DOID:2846 cystic kidney disease cystic_kidney_disease Cystic Kidney Disease VHL DOID:2975 hemophagocytic lymphohistiocytosis hemophagocytic_lymphohistiocytosis Hemophagocytic Lymphohistiocytosis STX11 DOID:0050120 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis GUCY2D DOID:14791 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome HRAS DOID:0050908 inguinal hernia inguinal_hernia Inguinal Hernia FBN1 DOID:0060320 marden-walker syndrome marden_walker_syndrome Marden-Walker Syndrome FBN1 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis CRX DOID:14791 neutropenia neutropenia Neutropenia VPS13B DOID:1227 congenital heart defects, hamartomas of tongue, and polysyndactyly congenital_heart_defects_hamartomas_of_tongue_and_polysyndactyly Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly TSC1 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma HRAS DOID:6171 congenital heart defects, hamartomas of tongue, and polysyndactyly congenital_heart_defects_hamartomas_of_tongue_and_polysyndactyly Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly TSC2 chronic granulomatous disease chronic_granulomatous_disease Chronic Granulomatous Disease NCF2 DOID:3265 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 BRAF DOID:3962 hematuria, benign familial hematuria_benign_familial Hematuria, Benign Familial COL4A5 pyropoikilocytosis, hereditary pyropoikilocytosis_hereditary_2 Pyropoikilocytosis, Hereditary SPTB microcephaly microcephaly Microcephaly ANKLE2 DOID:10907 fryns microphthalmia syndrome fryns_microphthalmia_syndrome Fryns Microphthalmia Syndrome OTX2 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome RNASEH2C DOID:0050629 ependymoma ependymoma Ependymoma MEN1 perrault syndrome perrault_syndrome Perrault Syndrome LARS2 DOID:0050857 carney complex variant carney_complex_variant Carney Complex Variant PRKAR1A DOID:0050471 tooth agenesis tooth_agenesis Tooth Agenesis MSX1 DOID:0050591 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MT-ATP6 DOID:10595 cholestasis, progressive familial intrahepatic, 1 cholestasis_progressive_familial_intrahepatic_1_2 Cholestasis, Progressive Familial Intrahepatic, 1 NR1H4 autism autism Autism CDKL5 DOID:12849 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis CLUAP1 DOID:14791 microcephaly microcephaly Microcephaly POGZ DOID:10907 epileptic encephalopathy, early infantile, 1 epileptic_encephalopathy_early_infantile_1 Epileptic Encephalopathy, Early Infantile, 1 WWOX polycystic liver disease 1 with or without kidney cysts polycystic_liver_disease_1_with_or_without_kidney_cysts Polycystic Liver Disease 1 with or Without Kidney Cysts PKD1 autoimmune lymphoproliferative syndrome autoimmune_lymphoproliferative_syndrome Autoimmune Lymphoproliferative Syndrome CASP10 DOID:6688 arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain ENG DOID:0060688 human venous malformation human_venous_malformation Human Venous Malformation GLMN aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome RNASEH2A DOID:0050629 polycystic liver disease 1 with or without kidney cysts polycystic_liver_disease_1_with_or_without_kidney_cysts Polycystic Liver Disease 1 with or Without Kidney Cysts PKD2 rrm2b-related mitochondrial disease rrm2b_related_mitochondrial_disease Rrm2b-Related Mitochondrial Disease RRM2B esophageal cancer esophageal_cancer Esophageal Cancer EGFR DOID:5041 kcnq2-related disorders kcnq2_related_disorders Kcnq2-Related Disorders KCNQ2 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis RDH12 DOID:14791 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa IMPG2 DOID:10584 neuroblastoma neuroblastoma Neuroblastoma PTPN11 DOID:769 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia PML DOID:0060318 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome SAMHD1 DOID:0050629 gingival fibromatosis gingival_fibromatosis Gingival Fibromatosis SOS1 DOID:0060466 duane retraction syndrome duane_retraction_syndrome Duane Retraction Syndrome CHN1 DOID:12557 deafness, autosomal recessive deafness_autosomal_recessive Deafness, Autosomal Recessive OTOF arhinia choanal atresia microphthalmia arhinia_choanal_atresia_microphthalmia Arhinia Choanal Atresia Microphthalmia SMCHD1 multiple sclerosis multiple_sclerosis Multiple Sclerosis NR1H3 DOID:2377 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRPF31 DOID:10584 keratoconus 1 keratoconus_1 Keratoconus 1 ZNF469 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive MTMR2 DOID:0110195 agammaglobulinemia, non-bruton type agammaglobulinemia_non_bruton_type Agammaglobulinemia, Non-Bruton Type BTK tango2-related metabolic encephalopathy and arrhythmias tango2_related_metabolic_encephalopathy_and_arrhythmias Tango2-Related Metabolic Encephalopathy and Arrhythmias TANGO2 lynch syndrome i lynch_syndrome_i Lynch Syndrome I PMS2 schizophrenia schizophrenia Schizophrenia SETD1A DOID:5419 hyperekplexia hyperekplexia Hyperekplexia SLC6A5 DOID:0060695 alzheimer disease type 1 alzheimer_disease_type_1 Alzheimer Disease Type 1 APP lynch syndrome i lynch_syndrome_i Lynch Syndrome I MSH6 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 SHOC2 DOID:3490 46,xy sex reversal 10 46xy_sex_reversal_10 46,xy Sex Reversal 10 SOX9 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 CALM3 DOID:0110644 46,xx sex reversal 2 46xx_sex_reversal_2_2 46,xx Sex Reversal 2 SOX9 advanced sleep phase syndrome advanced_sleep_phase_syndrome Advanced Sleep Phase Syndrome PER2 DOID:0050628 hyperekplexia hyperekplexia Hyperekplexia GLRB DOID:0060695 diamond-blackfan anemia 15 with mandibulofacial dysostosis diamond_blackfan_anemia_15_with_mandibulofacial_dysostosis_2 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis RPS26 epilepsy, nocturnal frontal lobe, 5 epilepsy_nocturnal_frontal_lobe_5 Epilepsy, Nocturnal Frontal Lobe, 5 SPAG1 DOID:0060686 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive SH3TC2 DOID:0110195 otopalatodigital spectrum disorders otopalatodigital_spectrum_disorders Otopalatodigital Spectrum Disorders FLNA myoclonic epilepsy myopathy sensory ataxia myoclonic_epilepsy_myopathy_sensory_ataxia Myoclonic Epilepsy Myopathy Sensory Ataxia POLG chronic intestinal pseudoobstruction chronic_intestinal_pseudoobstruction Chronic Intestinal Pseudoobstruction ACTG2 yemenite deaf-blind hypopigmentation syndrome yemenite_deaf_blind_hypopigmentation_syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome ABCA4 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 LMNA rosette-forming glioneuronal tumor rosette_forming_glioneuronal_tumor Rosette-Forming Glioneuronal Tumor FGFR1 deafness, nonsyndromic sensorineural, mitochondrial deafness_nonsyndromic_sensorineural_mitochondrial Deafness, Nonsyndromic Sensorineural, Mitochondrial MT-ND1 borrone di rocco crovato syndrome borrone_di_rocco_crovato_syndrome Borrone Di Rocco Crovato Syndrome SH3PXD2B leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis TULP1 DOID:14791 spondylocostal dysostosis 5 spondylocostal_dysostosis_5 Spondylocostal Dysostosis 5 HES7 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies congenital_muscular_alpha_dystroglycanopathy_with_brain_and_eye_anomalies Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies POMGNT1 diamond-blackfan anemia 15 with mandibulofacial dysostosis diamond_blackfan_anemia_15_with_mandibulofacial_dysostosis_2 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis TSR2 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CC2D2A DOID:0110980 astrocytoma astrocytoma Astrocytoma PTPN11 DOID:3069 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb MYH9 fundus dystrophy fundus_dystrophy Fundus Dystrophy RPE65 DOID:8501 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 LAMP2 short-rib thoracic dysplasia 3 with or without polydactyly short_rib_thoracic_dysplasia_3_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly BBS10 DOID:0110087 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy ventricular_tachycardia_catecholaminergic_polymorphic_1_with_or_without_atrial_dysfunction_and_or_dilated_cardiomyopathy Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy KCNJ2 DOID:0060675 persistent hyperplastic primary vitreous, autosomal recessive persistent_hyperplastic_primary_vitreous_autosomal_recessive Persistent Hyperplastic Primary Vitreous, Autosomal Recessive TSPAN12 sporadic hemiplegic migraine sporadic_hemiplegic_migraine Sporadic Hemiplegic Migraine CACNA1A granulosa cell tumor of the ovary granulosa_cell_tumor_of_the_ovary Granulosa Cell Tumor of the Ovary GNAI2 spinocerebellar ataxia 21 spinocerebellar_ataxia_21 Spinocerebellar Ataxia 21 SCYL1 DOID:0050972 ficolin 3 deficiency ficolin_3_deficiency Ficolin 3 Deficiency ATP6AP1 dyskeratosis congenita, autosomal recessive 1 dyskeratosis_congenita_autosomal_recessive_1 Dyskeratosis Congenita, Autosomal Recessive 1 TERT DOID:0070015 exudative vitreoretinopathy 1 exudative_vitreoretinopathy_1 Exudative Vitreoretinopathy 1 CTNNB1 DOID:13025 kallmann syndrome kallmann_syndrome Kallmann Syndrome FGFR1 DOID:3614 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 TTR split-hand/foot malformation 1 split_hand_foot_malformation_1_3 Split-Hand/foot Malformation 1 MAP3K20 DOID:0090021 duane syndrome type 2 duane_syndrome_type_2 Duane Syndrome Type 2 MAFB duane syndrome type 1 duane_syndrome_type_1 Duane Syndrome Type 1 MAFB familial juvenile hyperuricaemic nephropathy familial_juvenile_hyperuricaemic_nephropathy Familial Juvenile Hyperuricaemic Nephropathy UMOD kallmann syndrome kallmann_syndrome Kallmann Syndrome PROKR2 DOID:3614 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive SBF2 DOID:0110195 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis LRAT DOID:14791 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TMEM216 DOID:0110980 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness PDE6B DOID:0050534 fundus dystrophy fundus_dystrophy Fundus Dystrophy CRB1 DOID:8501 cornelia de lange syndrome 1 cornelia_de_lange_syndrome_1 Cornelia De Lange Syndrome 1 KMT2A cornelia de lange syndrome 1 cornelia_de_lange_syndrome_1 Cornelia De Lange Syndrome 1 TAF6 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy SCN2A neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive FIG4 DOID:0110195 craniosynostosis 1 craniosynostosis_1 Craniosynostosis 1 ERF duane syndrome type 3 duane_syndrome_type_3 Duane Syndrome Type 3 MAFB deafness, autosomal dominant 16 deafness_autosomal_dominant_16 Deafness, Autosomal Dominant 16 STRC DOID:0110547 aortic aneurysm, familial thoracic 2 aortic_aneurysm_familial_thoracic_2 Aortic Aneurysm, Familial Thoracic 2 ACTA2 mitochondrial dna depletion syndrome 3 mitochondrial_dna_depletion_syndrome_3_hepatocerebral_type Mitochondrial Dna Depletion Syndrome 3 TWNK DOID:0080121 flnb-related disorders flnb_related_disorders Flnb-Related Disorders FLNB fundus dystrophy fundus_dystrophy Fundus Dystrophy RDH12 DOID:8501 zimmermann-laband syndrome 1 zimmermann_laband_syndrome_1 Zimmermann-Laband Syndrome 1 ATP6V1B2 cd8 deficiency, familial cd8_deficiency_familial Cd8 Deficiency, Familial ZAP70 hypocalcemia, autosomal dominant 1 hypocalcemia_autosomal_dominant_1 Hypocalcemia, Autosomal Dominant 1 GNAS DOID:0090109 leukodystrophy, hypomyelinating, 2 leukodystrophy_hypomyelinating_2 Leukodystrophy, Hypomyelinating, 2 SNAP29 DOID:0060787 alopecia-mental retardation syndrome 1 alopecia_mental_retardation_syndrome_1_2 Alopecia-Mental Retardation Syndrome 1 AHSG familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer MT-CO2 cranioectodermal dysplasia 1 cranioectodermal_dysplasia_1 Cranioectodermal Dysplasia 1 IFT140 DOID:0050577 weill-marchesani syndrome 1 weill_marchesani_syndrome_1 Weill-Marchesani Syndrome 1 LTBP2 myh9 related thrombocytopenia myh9_related_thrombocytopenia Myh9 Related Thrombocytopenia MYH9 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive PRX DOID:0110195 hermansky-pudlak syndrome 1 hermansky_pudlak_syndrome_1 Hermansky-Pudlak Syndrome 1 DTNBP1 DOID:0060539 breast-ovarian cancer, familial 1 breast_ovarian_cancer_familial_1_2 Breast-Ovarian Cancer, Familial 1 NBN neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive FGD4 DOID:0110195 familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer MT-CO1 heterochromia iridis heterochromia_iridis Heterochromia Iridis MITF hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness SF3B4 ichthyosis, congenital, autosomal recessive 1 ichthyosis_congenital_autosomal_recessive_1 Ichthyosis, Congenital, Autosomal Recessive 1 ALOXE3 DOID:0060656 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 BBS7 DOID:0110123 keloid formation keloid_formation Keloid Formation ASAH1 nicolaides-baraitser syndrome nicolaides_baraitser_syndrome_2 Nicolaides-Baraitser Syndrome ARID1B microcephaly with spastic quadriplegia microcephaly_with_spastic_quadriplegia Microcephaly with Spastic Quadriplegia PCDH12 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive NDRG1 DOID:0110195 wiedemann-steiner syndrome wiedemann_steiner_syndrome Wiedemann-Steiner Syndrome SMC3 glb1-related disorders glb1_related_disorders Glb1-Related Disorders GLB1 heart, malformation of heart_malformation_of Heart, Malformation of TBX5 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 OFD1 DOID:0110980 duodenal atresia duodenal_atresia Duodenal Atresia GUCY2C DOID:0080216 horseshoe kidney horseshoe_kidney Horseshoe Kidney GJB2 multiple acyl-coa dehydrogenase deficiency multiple_acyl_coa_dehydrogenase_deficiency Multiple Acyl-Coa Dehydrogenase Deficiency FLAD1 DOID:0060358 pectus excavatum pectus_excavatum Pectus Excavatum FBN1 periampullary adenoma periampullary_adenoma Periampullary Adenoma APC DOID:0050849 familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer MT-CYB fundus dystrophy fundus_dystrophy Fundus Dystrophy CEP290 DOID:8501 dystonia dystonia Dystonia GNB1 DOID:543 neurogenic bladder neurogenic_bladder Neurogenic Bladder EBF3 DOID:12143 talipes equinovarus talipes_equinovarus Talipes Equinovarus RYR1 fundus dystrophy fundus_dystrophy Fundus Dystrophy GUCY2D DOID:8501 seckel syndrome 5 seckel_syndrome_5 Seckel Syndrome 5 CENPJ DOID:0070012 myxoid liposarcoma myxoid_liposarcoma Myxoid Liposarcoma FUS DOID:5363 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome CEP290 DOID:1935 polg-related disorders polg_related_disorders Polg-Related Disorders POLG glycogen storage disease iv glycogen_storage_disease_iv Glycogen Storage Disease Iv RBCK1 DOID:2750 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFA13 DOID:0060536 cowden syndrome 1 cowden_syndrome_1 Cowden Syndrome 1 EGFR myoglobinuria, recurrent myoglobinuria_recurrent_2 Myoglobinuria, Recurrent MT-CO1 optic nerve glioma optic_nerve_glioma Optic Nerve Glioma NF1 DOID:4992 encephalocele encephalocele Encephalocele CC2D2A hypotrichosis 8 hypotrichosis_8 Hypotrichosis 8 KRT25 DOID:0110705 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 MICALL2 DOID:0110980 preterm premature rupture of the membranes preterm_premature_rupture_of_the_membranes Preterm Premature Rupture of the Membranes MMP8 DOID:0111144 congenital leptin deficiency congenital_leptin_deficiency Congenital Leptin Deficiency LEP karak syndrome karak_syndrome Karak Syndrome PLA2G6 hyperparathyroidism 1 hyperparathyroidism_1 Hyperparathyroidism 1 MEN1 x-linked nonsyndromic deafness x_linked_nonsyndromic_deafness X-Linked Nonsyndromic Deafness SMPX DOID:0050566 familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer MT-ND4L familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer PLA2G2A optic nerve disease optic_nerve_disease Optic Nerve Disease MT-ND1 DOID:1891 oculoectodermal syndrome oculoectodermal_syndrome Oculoectodermal Syndrome CLUAP1 pulmonary arteriovenous malformation pulmonary_arteriovenous_malformation Pulmonary Arteriovenous Malformation ENG seizure disorder seizure_disorder Seizure Disorder PNPO fundus dystrophy fundus_dystrophy Fundus Dystrophy CDHR1 DOID:8501 exfoliative ichthyosis exfoliative_ichthyosis Exfoliative Ichthyosis KRT2 scn2a related disorders scn2a_related_disorders Scn2a Related Disorders SCN2A muscular dystrophy-dystroglycanopathy , type a, 4 muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 FKRP DOID:0050559 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset MT-ND1 DOID:14330 sudden infant death syndrome sudden_infant_death_syndrome Sudden Infant Death Syndrome MT-ND1 DOID:9007 seckel syndrome seckel_syndrome Seckel Syndrome ATR DOID:0050569 vitamin b12 deficiency vitamin_b12_deficiency Vitamin B12 Deficiency AMN DOID:0050731 opsismodysplasia opsismodysplasia Opsismodysplasia SH3PXD2B ceroid lipofuscinosis, neuronal, 2 ceroid_lipofuscinosis_neuronal_2_2 Ceroid Lipofuscinosis, Neuronal, 2 MFSD8 DOID:0110726 ovarian cancer ovarian_cancer Ovarian Cancer RRAS2 DOID:2394 kallmann syndrome kallmann_syndrome Kallmann Syndrome PROK2 DOID:3614 seizure disorder seizure_disorder Seizure Disorder CDKL5 epicanthus epicanthus Epicanthus ATP1A3 epicanthus epicanthus Epicanthus TCF4 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS17 DOID:1339 isolated growth hormone deficiency, type ia isolated_growth_hormone_deficiency_type_ia Isolated Growth Hormone Deficiency, Type Ia CRIPT DOID:0060873 systemic lupus erythematosus systemic_lupus_erythematosus Systemic Lupus Erythematosus ENG DOID:9074 norrie disease norrie_disease Norrie Disease TSPAN12 DOID:0060844 polyposis, gastric polyposis_gastric Polyposis, Gastric APC yemenite deaf-blind hypopigmentation syndrome yemenite_deaf_blind_hypopigmentation_syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome RHO combined immunodeficiency, x-linked combined_immunodeficiency_x_linked Combined Immunodeficiency, X-Linked ZAP70 DOID:628 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome MKS1 DOID:1935 seizure disorder seizure_disorder Seizure Disorder MECP2 visceral heterotaxy visceral_heterotaxy Visceral Heterotaxy GDF1 DOID:0050545 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes KCNQ3 DOID:3329 bladder cancer bladder_cancer Bladder Cancer TSC1 DOID:4007 hypothyroidism hypothyroidism Hypothyroidism RET DOID:1459 isolated growth hormone deficiency, type ia isolated_growth_hormone_deficiency_type_ia Isolated Growth Hormone Deficiency, Type Ia XRCC4 DOID:0060873 cataract cataract Cataract IARS2 DOID:83 short-rib thoracic dysplasia 6 with or without polydactyly short_rib_thoracic_dysplasia_6_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly TTC21B DOID:0110092 hereditary spastic paraplegia hereditary_spastic_paraplegia Hereditary Spastic Paraplegia KY DOID:2476 heart disease heart_disease Heart Disease ABL1 DOID:1682 kartagener syndrome kartagener_syndrome Kartagener Syndrome CCDC114 DOID:0050144 kartagener syndrome kartagener_syndrome Kartagener Syndrome RSPH9 DOID:0050144 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFA10 DOID:0060536 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes RBFOX1 DOID:3329 prostate cancer prostate_cancer Prostate Cancer POLK DOID:10286 microphthalmia microphthalmia Microphthalmia RBP4 DOID:10629 ossification of the posterior longitudinal ligament of spine ossification_of_the_posterior_longitudinal_ligament_of_spine Ossification of the Posterior Longitudinal Ligament of Spine ENPP1 DOID:0060887 brittle cornea syndrome 2 brittle_cornea_syndrome_2 Brittle Cornea Syndrome 2 PLOD1 DOID:14775 ventricular fibrillation, paroxysmal familial, 1 ventricular_fibrillation_paroxysmal_familial_1 Ventricular Fibrillation, Paroxysmal Familial, 1 RYR2 wolfram syndrome wolfram_syndrome Wolfram Syndrome CISD2 DOID:10632 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 BBS4 DOID:0110123 myopia myopia Myopia CHD7 DOID:11830 hydrops fetalis, nonimmune hydrops_fetalis_nonimmune Hydrops Fetalis, Nonimmune NEU1 legius syndrome legius_syndrome Legius Syndrome PTPN11 autism spectrum disorder autism_spectrum_disorder Autism Spectrum Disorder EHMT1 DOID:0060041 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness COL11A2 DOID:0050563 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness KCNQ4 DOID:0050563 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease DNAJB2 DOID:10595 pulmonary hypertension pulmonary_hypertension Pulmonary Hypertension FOXF1 DOID:6432 chronic kidney failure chronic_kidney_failure Chronic Kidney Failure COL4A5 DOID:784 cervical cancer cervical_cancer Cervical Cancer SMAD4 DOID:4362 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness GIPC3 DOID:0050563 pancreatic cancer pancreatic_cancer Pancreatic Cancer ACVR1B DOID:4905 stargardt disease stargardt_disease Stargardt Disease PROM1 DOID:0050817 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome C8orf37 DOID:1935 kartagener syndrome kartagener_syndrome Kartagener Syndrome CCNO DOID:0050144 craniopharyngioma craniopharyngioma Craniopharyngioma CTNNB1 DOID:3840 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis CNGB3 DOID:14791 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy NKX2-5 DOID:12930 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-ND2 DOID:0060536 chronic kidney failure chronic_kidney_failure Chronic Kidney Failure PKD2 DOID:784 craniosynostosis craniosynostosis Craniosynostosis ZNF462 DOID:2340 cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome SMC1A DOID:11725 sensorineural hearing loss sensorineural_hearing_loss Sensorineural Hearing Loss MT-TL1 DOID:10003 neurofibrosarcoma neurofibrosarcoma Neurofibrosarcoma MXI1 DOID:3512 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa BBS10 DOID:10584 polyneuropathy polyneuropathy Polyneuropathy GDAP1 DOID:1389 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis PDE6A DOID:14791 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness MYH9 DOID:0050563 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young HNF4A DOID:0050524 infantile epileptic encephalopathy infantile_epileptic_encephalopathy Infantile Epileptic Encephalopathy TSC2 DOID:2481 immune deficiency disease immune_deficiency_disease Immune Deficiency Disease ATM DOID:612 microphthalmia microphthalmia Microphthalmia MFRP DOID:10629 diabetes mellitus diabetes_mellitus Diabetes Mellitus MEN1 DOID:9351 ovarian cancer ovarian_cancer Ovarian Cancer MIR429 DOID:2394 polycystic liver disease polycystic_liver_disease Polycystic Liver Disease SEC63 DOID:0050770 urticaria urticaria Urticaria F12 DOID:1555 myocardial infarction myocardial_infarction Myocardial Infarction GUCY1A1 DOID:5844 conn's syndrome conns_syndrome Conn's Syndrome CACNA1H DOID:446 focal epilepsy focal_epilepsy Focal Epilepsy CDKL5 DOID:2234 hydrocephalus hydrocephalus Hydrocephalus ARFGEF2 DOID:10908 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma HRAS DOID:9261 colorectal cancer colorectal_cancer Colorectal Cancer MIR203A DOID:9256 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma FGFR2 DOID:3717 severe congenital neutropenia severe_congenital_neutropenia Severe Congenital Neutropenia TCIRG1 DOID:0050590 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid NRAS DOID:8552 axenfeld-rieger syndrome axenfeld_rieger_syndrome Axenfeld-Rieger Syndrome FOXC1 DOID:14686 weill-marchesani syndrome weill_marchesani_syndrome Weill-Marchesani Syndrome FBN1 DOID:0050475 endometrial cancer endometrial_cancer Endometrial Cancer MUTYH DOID:2871 hematologic cancer hematologic_cancer Hematologic Cancer MPL DOID:2531 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 GNAS DOID:9970 geleophysic dysplasia geleophysic_dysplasia Geleophysic Dysplasia ADAMTSL2 strabismus strabismus Strabismus TYR DOID:540 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness DCDC2 DOID:0050563 weill-marchesani syndrome weill_marchesani_syndrome Weill-Marchesani Syndrome ADAMTS10 DOID:0050475 schizophrenia schizophrenia Schizophrenia MC4R DOID:5419 hypertrichosis hypertrichosis Hypertrichosis ASXL1 DOID:420 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita TERT DOID:2729 endometrial adenocarcinoma endometrial_adenocarcinoma Endometrial Adenocarcinoma FGFR2 DOID:2870 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma FGFR1 DOID:3717 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness LRIT3 DOID:0050534 congenital ichthyosiform erythroderma congenital_ichthyosiform_erythroderma Congenital Ichthyosiform Erythroderma ALOXE3 DOID:1699 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck SMAD4 DOID:5520 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome POMT2 DOID:0050560 colorectal cancer colorectal_cancer Colorectal Cancer PTPN11 DOID:9256 alternating hemiplegia of childhood alternating_hemiplegia_of_childhood Alternating Hemiplegia of Childhood ATP1A2 DOID:0050635 dyschromatosis universalis hereditaria dyschromatosis_universalis_hereditaria Dyschromatosis Universalis Hereditaria ABCB6 DOID:0060304 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome NOTCH1 DOID:0060227 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita NOP10 DOID:2729 spastic paraplegia 41, autosomal dominant spastic_paraplegia_41_autosomal_dominant Spastic Paraplegia 41, Autosomal Dominant SPG41 DOID:0110793 spastic paraplegia 36, autosomal dominant spastic_paraplegia_36_autosomal_dominant Spastic Paraplegia 36, Autosomal Dominant SPG36 DOID:0110787 spastic paraplegia 37, autosomal dominant spastic_paraplegia_37_autosomal_dominant Spastic Paraplegia 37, Autosomal Dominant SPG37 DOID:0110788 spastic paraplegia 38, autosomal dominant spastic_paraplegia_38_autosomal_dominant Spastic Paraplegia 38, Autosomal Dominant SPG38 DOID:0110789 spastic paraplegia 29, autosomal dominant spastic_paraplegia_29_autosomal_dominant Spastic Paraplegia 29, Autosomal Dominant SPG29 DOID:0110780 spastic paraplegia 32, autosomal recessive spastic_paraplegia_32_autosomal_recessive Spastic Paraplegia 32, Autosomal Recessive SPG32 DOID:0110783 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation KCNQ1 DOID:0050650 spastic paraplegia 24, autosomal recessive spastic_paraplegia_24_autosomal_recessive Spastic Paraplegia 24, Autosomal Recessive SPG24 DOID:0110775 spastic paraplegia 27, autosomal recessive spastic_paraplegia_27_autosomal_recessive Spastic Paraplegia 27, Autosomal Recessive SPG27 DOID:0110778 spastic paraplegia 19, autosomal dominant spastic_paraplegia_19_autosomal_dominant Spastic Paraplegia 19, Autosomal Dominant SPG19 DOID:0110772 spastic paraplegia 25, autosomal recessive spastic_paraplegia_25_autosomal_recessive Spastic Paraplegia 25, Autosomal Recessive SPG25 DOID:0110776 spastic paraplegia 14, autosomal recessive spastic_paraplegia_14_autosomal_recessive Spastic Paraplegia 14, Autosomal Recessive SPG14 DOID:0110767 esophageal cancer esophageal_cancer Esophageal Cancer HRAS DOID:5041 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS26 DOID:1339 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness GNAT1 DOID:0050534 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness OTOF DOID:0050563 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-ND4 DOID:0060536 clear cell renal cell carcinoma clear_cell_renal_cell_carcinoma Clear Cell Renal Cell Carcinoma OGG1 DOID:4467 dermatofibrosarcoma protuberans dermatofibrosarcoma_protuberans Dermatofibrosarcoma Protuberans COL1A1 DOID:3507 spinocerebellar ataxia 30 spinocerebellar_ataxia_30 Spinocerebellar Ataxia 30 SCA30 DOID:0050979 spinocerebellar ataxia 32 spinocerebellar_ataxia_32 Spinocerebellar Ataxia 32 SCA32 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor BRAF DOID:9253 spinocerebellar ataxia 25 spinocerebellar_ataxia_25 Spinocerebellar Ataxia 25 SCA25 DOID:0050974 optic atrophy 2 optic_atrophy_2 Optic Atrophy 2 OPA2 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 RAF1 DOID:3910 lymphoblastic leukemia, acute, with lymphomatous features lymphoblastic_leukemia_acute_with_lymphomatous_features Lymphoblastic Leukemia, Acute, with Lymphomatous Features CRLF2 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness SLC24A1 DOID:0050534 breast cancer breast_cancer Breast Cancer MIR21 DOID:3459 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR122 DOID:916 exudative vitreoretinopathy exudative_vitreoretinopathy Exudative Vitreoretinopathy NDP DOID:0050535 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder HIVEP1 DOID:1094 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder CDK20 DOID:1094 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder VPS13B DOID:1094 dystonia 21 dystonia_21 Dystonia 21 DYT21 DOID:0090046 colorectal cancer colorectal_cancer Colorectal Cancer MIR21 DOID:9256 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e GARS DOID:0110171 lung cancer lung_cancer Lung Cancer MIR21 DOID:3908 achromatopsia achromatopsia Achromatopsia GNAT2 DOID:13911 oral squamous cell carcinoma oral_squamous_cell_carcinoma Oral Squamous Cell Carcinoma MIR21 DOID:0050866 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR21 DOID:916 kartagener syndrome kartagener_syndrome Kartagener Syndrome RSPH1 DOID:0050144 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young NEUROD1 DOID:0050524 diffuse large b-cell lymphoma diffuse_large_b_cell_lymphoma Diffuse Large B-Cell Lymphoma MIR155 DOID:0050745 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young KLF11 DOID:0050524 chronic granulomatous disease chronic_granulomatous_disease Chronic Granulomatous Disease NCF1 DOID:3265 dowling-degos disease dowling_degos_disease Dowling-Degos Disease POGLUT1 DOID:0060256 gastric cancer gastric_cancer Gastric Cancer MIR21 DOID:5517 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR146A DOID:916 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome DOCK6 DOID:0060227 breast cancer breast_cancer Breast Cancer MIR221 DOID:3459 glutathionuria glutathionuria Glutathionuria GGT1 breast cancer breast_cancer Breast Cancer MIR155 DOID:3459 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young INS DOID:0050524 blepharophimosis blepharophimosis Blepharophimosis ARID1B DOID:10348 breast cancer breast_cancer Breast Cancer MIR146A DOID:3459 gingival overgrowth gingival_overgrowth Gingival Overgrowth RET DOID:3086 bruck syndrome bruck_syndrome Bruck Syndrome PLOD2 DOID:0060231 growth hormone deficiency growth_hormone_deficiency Growth Hormone Deficiency ADNP nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness PJVK DOID:0050563 prostate cancer prostate_cancer Prostate Cancer MIR145 DOID:10286 deafness, autosomal recessive deafness_autosomal_recessive Deafness, Autosomal Recessive GJB3 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR221 DOID:916 inguinal hernia inguinal_hernia Inguinal Hernia NF1 DOID:0060320 branchiootorenal syndrome branchiootorenal_syndrome Branchiootorenal Syndrome SIX5 DOID:14702 breast cancer breast_cancer Breast Cancer MIR222 DOID:3459 colorectal cancer colorectal_cancer Colorectal Cancer MIR145 DOID:9256 kartagener syndrome kartagener_syndrome Kartagener Syndrome MCIDAS DOID:0050144 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR21 DOID:4905 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis PEX1 DOID:14791 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR34A DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR195 DOID:916 colon adenocarcinoma colon_adenocarcinoma Colon Adenocarcinoma RAD54L DOID:234 hereditary hemorrhagic telangiectasia hereditary_hemorrhagic_telangiectasia Hereditary Hemorrhagic Telangiectasia SMAD4 DOID:1270 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot RET DOID:6419 colorectal cancer colorectal_cancer Colorectal Cancer MIR143 DOID:9256 prostate cancer prostate_cancer Prostate Cancer MIR21 DOID:10286 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia ZBTB16 DOID:0060318 aplastic anemia aplastic_anemia Aplastic Anemia RPL5 DOID:12449 breast cancer breast_cancer Breast Cancer MIR10B DOID:3459 cervical cancer cervical_cancer Cervical Cancer MIR21 DOID:4362 myocardial infarction myocardial_infarction Myocardial Infarction CCT7 DOID:5844 prostate cancer prostate_cancer Prostate Cancer MIR221 DOID:10286 glioblastoma glioblastoma Glioblastoma MIR21 ovarian cancer ovarian_cancer Ovarian Cancer MIR200C DOID:2394 strabismus strabismus Strabismus GNB1 DOID:540 nonalcoholic fatty liver disease nonalcoholic_fatty_liver_disease Nonalcoholic Fatty Liver Disease MIR122 DOID:0080208 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness STRC DOID:0050563 breast cancer breast_cancer Breast Cancer MIR205 DOID:3459 headache headache Headache NPC1 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy PMPCA DOID:11984 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma FGFR2 DOID:6171 marfan syndrome marfan_syndrome Marfan Syndrome LTBP2 DOID:14323 colorectal cancer colorectal_cancer Colorectal Cancer MIR31 DOID:9256 prostate cancer prostate_cancer Prostate Cancer MIR205 DOID:10286 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR155 DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR224 DOID:916 ovarian cancer ovarian_cancer Ovarian Cancer MIR200A DOID:2394 lung cancer lung_cancer Lung Cancer MIR145 DOID:3908 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness MYO6 DOID:0050563 periventricular nodular heterotopia periventricular_nodular_heterotopia Periventricular Nodular Heterotopia ARFGEF2 DOID:0050454 lung cancer lung_cancer Lung Cancer MIR205 DOID:3908 lung cancer lung_cancer Lung Cancer MIR126 DOID:3908 colorectal cancer colorectal_cancer Colorectal Cancer MIR34A DOID:9256 ewing sarcoma ewing_sarcoma Ewing Sarcoma CNGA3 DOID:5614 mantle cell lymphoma mantle_cell_lymphoma Mantle Cell Lymphoma CCND1 DOID:0050746 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 SLC30A7 DOID:0110980 esophageal cancer esophageal_cancer Esophageal Cancer MIR21 DOID:5041 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR200B DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR223 DOID:916 alzheimer disease alzheimer_disease Alzheimer Disease MIR146A DOID:10652 ovarian cancer ovarian_cancer Ovarian Cancer MIR200B DOID:2394 aceruloplasminemia aceruloplasminemia Aceruloplasminemia SETX DOID:0050753 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness GSDME DOID:0050563 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 B9D2 DOID:0110980 rett syndrome rett_syndrome Rett Syndrome FOXG1 DOID:1206 strabismus strabismus Strabismus POGZ DOID:540 usher syndrome, type i usher_syndrome_type_i_2 Usher Syndrome, Type I USH1E DOID:0110833 glioma glioma Glioma MIR21 prostate cancer prostate_cancer Prostate Cancer MIR222 DOID:10286 prostate cancer prostate_cancer Prostate Cancer MIR146A DOID:10286 tremor tremor Tremor C19orf12 mitochondrial encephalomyopathy mitochondrial_encephalomyopathy Mitochondrial Encephalomyopathy MT-TR DOID:890 gastric cancer gastric_cancer Gastric Cancer MIR25 DOID:5517 microcephaly microcephaly Microcephaly SMARCAL1 DOID:10907 strabismus strabismus Strabismus DHX30 DOID:540 prostate cancer prostate_cancer Prostate Cancer MIR23B DOID:10286 bone marrow cancer bone_marrow_cancer Bone Marrow Cancer FGFR3 DOID:4960 congenital hemolytic anemia congenital_hemolytic_anemia Congenital Hemolytic Anemia SPTA1 DOID:589 gastric cancer gastric_cancer Gastric Cancer MIR221 DOID:5517 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome GNB1 DOID:0050908 renal dysplasia renal_dysplasia Renal Dysplasia EBF3 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa COL18A1 DOID:10584 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR18A DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR27A DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR143 DOID:916 glioblastoma multiforme glioblastoma_multiforme Glioblastoma Multiforme MIR21 DOID:3068 omphalocele omphalocele Omphalocele GJB2 DOID:0060327 omphalocele omphalocele Omphalocele PLOD1 DOID:0060327 anosmia anosmia Anosmia SMCHD1 kartagener syndrome kartagener_syndrome Kartagener Syndrome RSPH3 DOID:0050144 uv-sensitive syndrome uv_sensitive_syndrome Uv-Sensitive Syndrome UVSSA DOID:0060240 lung cancer lung_cancer Lung Cancer MIR19A DOID:3908 microcephaly microcephaly Microcephaly DHX30 DOID:10907 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR155 DOID:4905 prostate cancer prostate_cancer Prostate Cancer MIRLET7C DOID:10286 angioedema angioedema Angioedema SYTL2 DOID:1558 ewing sarcoma ewing_sarcoma Ewing Sarcoma RDH12 DOID:5614 bladder cancer bladder_cancer Bladder Cancer MIR21 DOID:4007 glioblastoma glioblastoma Glioblastoma MIR221 breast adenocarcinoma breast_adenocarcinoma Breast Adenocarcinoma KRAS DOID:3458 lung cancer lung_cancer Lung Cancer MIR183 DOID:3908 pancreatic ductal adenocarcinoma pancreatic_ductal_adenocarcinoma Pancreatic Ductal Adenocarcinoma MIR155 DOID:3498 rhabdomyosarcoma rhabdomyosarcoma Rhabdomyosarcoma BRCA1 DOID:3247 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness RHO DOID:0050534 glioblastoma glioblastoma Glioblastoma MIR222 tooth agenesis tooth_agenesis Tooth Agenesis EDA DOID:0050591 fundus dystrophy fundus_dystrophy Fundus Dystrophy BBS1 DOID:8501 hypertelorism hypertelorism Hypertelorism MT-ATP6 hypertelorism hypertelorism Hypertelorism RET skin melanoma skin_melanoma Skin Melanoma HRAS DOID:8923 ptosis ptosis Ptosis IGHMBP2 DOID:0060260 bladder cancer bladder_cancer Bladder Cancer MIR221 DOID:4007 microcephaly microcephaly Microcephaly COL7A1 DOID:10907 strabismus strabismus Strabismus MPP4 DOID:540 myoclonus myoclonus Myoclonus SLC2A1 polymicrogyria polymicrogyria Polymicrogyria EHMT1 lissencephaly lissencephaly Lissencephaly NBN DOID:0050453 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness GRXCR1 DOID:0050563 hypothyroidism hypothyroidism Hypothyroidism CHD7 DOID:1459 hypothyroidism hypothyroidism Hypothyroidism GNB1 DOID:1459 hypothyroidism hypothyroidism Hypothyroidism ADNP DOID:1459 aceruloplasminemia aceruloplasminemia Aceruloplasminemia ATM DOID:0050753 autism autism Autism GSPT2 DOID:12849 mitochondrial encephalomyopathy mitochondrial_encephalomyopathy Mitochondrial Encephalomyopathy MT-TW DOID:890 glioblastoma glioblastoma Glioblastoma BCOR pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR10A DOID:4905 mitochondrial myopathy mitochondrial_myopathy Mitochondrial Myopathy MT-TM DOID:699 familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer GREM1 fundus dystrophy fundus_dystrophy Fundus Dystrophy RPGR DOID:8501 brugada syndrome brugada_syndrome Brugada Syndrome GPD1L DOID:0050451 melanoma melanoma Melanoma FBN1 DOID:1909 microcephaly microcephaly Microcephaly ATP2B3 DOID:10907 microcephaly microcephaly Microcephaly MFN2 DOID:10907 microcephaly microcephaly Microcephaly HDAC8 DOID:10907 melanoma melanoma Melanoma MIR34A DOID:1909 fundus dystrophy fundus_dystrophy Fundus Dystrophy VPS13B DOID:8501 fundus dystrophy fundus_dystrophy Fundus Dystrophy BBS10 DOID:8501 exudative vitreoretinopathy exudative_vitreoretinopathy Exudative Vitreoretinopathy ZNF408 DOID:0050535 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma RAF1 DOID:3717 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders TOP3A mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders TMEM126B fundus dystrophy fundus_dystrophy Fundus Dystrophy RS1 DOID:8501 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness USH2A DOID:0050563 premature ovarian failure 1 premature_ovarian_failure_1 Premature Ovarian Failure 1 EIF2B2 DOID:5426 fundus dystrophy fundus_dystrophy Fundus Dystrophy BEST1 DOID:8501 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-CO2 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 TTN brugada syndrome brugada_syndrome Brugada Syndrome CACNB2 DOID:0050451 fundus dystrophy fundus_dystrophy Fundus Dystrophy CERKL DOID:8501 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness CEACAM16 DOID:0050563 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRPF8 DOID:10584 schizophrenia schizophrenia Schizophrenia MIR30E DOID:5419 mitochondrial myopathy mitochondrial_myopathy Mitochondrial Myopathy MT-TL2 DOID:699 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy TRAF3IP1 DOID:0050592 fundus dystrophy fundus_dystrophy Fundus Dystrophy BBS4 DOID:8501 monilethrix monilethrix Monilethrix DSG4 DOID:0050472 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e BSCL2 DOID:0110171 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa FAM161A DOID:10584 fundus dystrophy fundus_dystrophy Fundus Dystrophy EYS DOID:8501 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa NRL DOID:10584 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL26 DOID:1339 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy EVC2 DOID:0050592 brugada syndrome brugada_syndrome Brugada Syndrome SCN1B DOID:0050451 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e AARS DOID:0110171 fundus dystrophy fundus_dystrophy Fundus Dystrophy IQCB1 DOID:8501 fundus dystrophy fundus_dystrophy Fundus Dystrophy DRAM2 DOID:8501 premature ovarian failure 1 premature_ovarian_failure_1 Premature Ovarian Failure 1 SGO2 DOID:5426 cataract cataract Cataract RHO DOID:83 fundus dystrophy fundus_dystrophy Fundus Dystrophy RGR DOID:8501 fundus dystrophy fundus_dystrophy Fundus Dystrophy PDE6B DOID:8501 aceruloplasminemia aceruloplasminemia Aceruloplasminemia NPC1 DOID:0050753 ewing sarcoma ewing_sarcoma Ewing Sarcoma IMPG2 DOID:5614 fundus dystrophy fundus_dystrophy Fundus Dystrophy PRPH2 DOID:8501 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset VPS13C DOID:14330 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness OTOGL DOID:0050563 childhood absence epilepsy childhood_absence_epilepsy Childhood Absence Epilepsy CACNA1H DOID:1825 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 KIAA0753 DOID:0110980 retinal detachment retinal_detachment Retinal Detachment RHO DOID:5327 multiple synostoses syndrome multiple_synostoses_syndrome Multiple Synostoses Syndrome NOG DOID:0050794 microcephaly microcephaly Microcephaly NIPBL DOID:10907 advanced sleep phase syndrome advanced_sleep_phase_syndrome Advanced Sleep Phase Syndrome PER3 DOID:0050628 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 C2CD3 DOID:0110980 short-rib thoracic dysplasia 6 with or without polydactyly short_rib_thoracic_dysplasia_6_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly EVC DOID:0110092 breast cancer breast_cancer Breast Cancer MIR206 DOID:3459 fundus dystrophy fundus_dystrophy Fundus Dystrophy PCARE DOID:8501 mitochondrial myopathy mitochondrial_myopathy Mitochondrial Myopathy MT-TA DOID:699 oral cavity cancer oral_cavity_cancer Oral Cavity Cancer PIK3CA DOID:8618 short-rib thoracic dysplasia 6 with or without polydactyly short_rib_thoracic_dysplasia_6_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly EVC2 DOID:0110092 fundus dystrophy fundus_dystrophy Fundus Dystrophy KCNV2 DOID:8501 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction MIPEP DOID:0060480 mitochondrial encephalomyopathy mitochondrial_encephalomyopathy Mitochondrial Encephalomyopathy MT-TL2 DOID:890 distal arthrogryposis distal_arthrogryposis Distal Arthrogryposis ADGRG6 DOID:0050646 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes DEPDC5 DOID:3329 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCM DOID:13636 skin melanoma skin_melanoma Skin Melanoma PTEN DOID:8923 multiple synostoses syndrome multiple_synostoses_syndrome Multiple Synostoses Syndrome GDF5 DOID:0050794 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia TSR2 DOID:1339 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis IMPDH1 DOID:14791 microphthalmia microphthalmia Microphthalmia TFAP2A DOID:10629 atypical teratoid rhabdoid tumor atypical_teratoid_rhabdoid_tumor Atypical Teratoid Rhabdoid Tumor TP53 DOID:2129 coloboma of macula coloboma_of_macula Coloboma of Macula YAP1 DOID:12270 microcephaly microcephaly Microcephaly SMC1A DOID:10907 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction NKX2-5 DOID:0060480 umbilical hernia umbilical_hernia Umbilical Hernia PLOD1 DOID:0060321 isolated growth hormone deficiency, type ia isolated_growth_hormone_deficiency_type_ia Isolated Growth Hormone Deficiency, Type Ia DNA2 DOID:0060873 silver-russell syndrome silver_russell_syndrome Silver-Russell Syndrome PLAG1 DOID:14681 cleft palate, isolated cleft_palate_isolated Cleft Palate, Isolated FLNA DOID:674 porokeratosis porokeratosis Porokeratosis SLC17A9 DOID:3805 cleft palate, isolated cleft_palate_isolated Cleft Palate, Isolated NIPBL DOID:674 spermatocytoma spermatocytoma Spermatocytoma FGFR3 DOID:5834 autism autism Autism PRR12 DOID:12849 anus, imperforate anus_imperforate Anus, Imperforate MED12 DOID:10488 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 PLN precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia BAX retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa KLHL7 DOID:10584 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 FGFR3 DOID:3910 aceruloplasminemia aceruloplasminemia Aceruloplasminemia MT-ATP6 DOID:0050753 kidney disease kidney_disease Kidney Disease CEP290 DOID:557 colorectal cancer colorectal_cancer Colorectal Cancer BCL10 DOID:9256 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis AHI1 DOID:14791 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset MIR133B DOID:14330 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck FGFR3 DOID:5520 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness KARS DOID:0050563 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes CNTNAP2 DOID:3329 connective tissue disease connective_tissue_disease Connective Tissue Disease ACTA2 DOID:65 bruxism bruxism Bruxism CDKL5 DOID:2846 brain stem glioma brain_stem_glioma Brain Stem Glioma ACVR1 DOID:4202 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid DDX41 DOID:9119 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 IFT172 DOID:0110980 scoliosis scoliosis Scoliosis PTPN11 DOID:0060249 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy LBR DOID:0050592 breast cancer breast_cancer Breast Cancer MIR661 DOID:3459 coloboma of macula coloboma_of_macula Coloboma of Macula CYP1B1 DOID:12270 hypospadias hypospadias Hypospadias MAMLD1 DOID:10892 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 VHL DOID:4465 williams-beuren syndrome williams_beuren_syndrome Williams-Beuren Syndrome CYP24A1 DOID:1928 peripheral nervous system disease peripheral_nervous_system_disease Peripheral Nervous System Disease IARS2 DOID:574 scoliosis scoliosis Scoliosis MED13L DOID:0060249 myeloma, multiple myeloma_multiple Myeloma, Multiple PTPN11 DOID:9538 sudden infant death syndrome sudden_infant_death_syndrome Sudden Infant Death Syndrome MT-TL1 DOID:9007 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RGR DOID:10584 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SCN2A DOID:3329 seckel syndrome seckel_syndrome Seckel Syndrome RBBP8 DOID:0050569 acute t cell leukemia acute_t_cell_leukemia Acute T Cell Leukemia BCL10 DOID:5603 sezary's disease sezarys_disease Sezary's Disease BCL10 DOID:8541 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes RBFOX3 DOID:3329 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa FSCN2 DOID:10584 distal arthrogryposis distal_arthrogryposis Distal Arthrogryposis RYR1 DOID:0050646 combined immunodeficiency, x-linked combined_immunodeficiency_x_linked Combined Immunodeficiency, X-Linked TFRC DOID:628 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness RDX DOID:0050563 ptosis ptosis Ptosis SOS1 DOID:0060260 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SEMA4A DOID:10584 combined immunodeficiency, x-linked combined_immunodeficiency_x_linked Combined Immunodeficiency, X-Linked BCL11B DOID:628 3-methylcrotonyl-coa carboxylase deficiency 3_methylcrotonyl_coa_carboxylase_deficiency 3-Methylcrotonyl-Coa Carboxylase Deficiency MCCC1 DOID:0050710 perrault syndrome perrault_syndrome Perrault Syndrome HARS2 DOID:0050857 kallmann syndrome kallmann_syndrome Kallmann Syndrome FGF8 DOID:3614 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia NPM1 DOID:0060318 generalized epilepsy with febrile seizures plus generalized_epilepsy_with_febrile_seizures_plus Generalized Epilepsy with Febrile Seizures Plus SCN1A DOID:0060170 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 PRKN DOID:3910 ewing sarcoma ewing_sarcoma Ewing Sarcoma ETV1 DOID:5614 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome LARGE1 DOID:0050560 cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome SMC3 DOID:11725 antenatal bartter syndrome antenatal_bartter_syndrome Antenatal Bartter Syndrome KCNJ1 alternating hemiplegia of childhood alternating_hemiplegia_of_childhood Alternating Hemiplegia of Childhood ATP1A3 DOID:0050635 autosomal dominant polycystic kidney disease autosomal_dominant_polycystic_kidney_disease Autosomal Dominant Polycystic Kidney Disease PKD1 DOID:898 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness TRPM1 DOID:0050534 immunodeficiency-centromeric instability-facial anomalies syndrome immunodeficiency_centromeric_instability_facial_anomalies_syndrome Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome DNMT3B DOID:0090007 melanoma, uveal melanoma_uveal Melanoma, Uveal GNA11 DOID:6039 3-methylglutaconic aciduria 3_methylglutaconic_aciduria 3-Methylglutaconic Aciduria MT-TL1 DOID:0060336 3-methylglutaconic aciduria, type i 3_methylglutaconic_aciduria_type_i_2 3-Methylglutaconic Aciduria, Type I MT-TL1 DOID:0110002 3-methylglutaconic aciduria, type iii 3_methylglutaconic_aciduria_type_iii 3-Methylglutaconic Aciduria, Type Iii PMPCA DOID:5723 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 MRPS22 acanthosis nigricans acanthosis_nigricans Acanthosis Nigricans PRMT7 DOID:3138 aceruloplasminemia aceruloplasminemia Aceruloplasminemia SLC2A1 DOID:0050753 aceruloplasminemia aceruloplasminemia Aceruloplasminemia SURF1 DOID:0050753 acute myeloblastic leukemia with maturation acute_myeloblastic_leukemia_with_maturation Acute Myeloblastic Leukemia with Maturation MIR181A1HG acute t cell leukemia acute_t_cell_leukemia Acute T Cell Leukemia BAX DOID:5603 adenoid cystic carcinoma adenoid_cystic_carcinoma Adenoid Cystic Carcinoma JAK3 DOID:4866 adenoid cystic carcinoma adenoid_cystic_carcinoma Adenoid Cystic Carcinoma KRAS DOID:4866 adrenocortical carcinoma, hereditary adrenocortical_carcinoma_hereditary Adrenocortical Carcinoma, Hereditary PIK3CA DOID:3948 agammaglobulinemia 1, autosomal recessive agammaglobulinemia_1_autosomal_recessive Agammaglobulinemia 1, Autosomal Recessive BTK alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome MPP4 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome KAT6A alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome OTUD6B alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome MED13L alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome PHF8 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome MED12 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome KDM5C alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome PURA alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome TCF4 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome VPS13B alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome ZNF292 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome SLC2A1 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome SLC16A2 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome RAI1 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome RUBCN alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome SHANK3 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome IQSEC2 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome IL1RAPL1 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome BPTF alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome BRPF1 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome HCFC1 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome BBS10 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome ATRX alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome AHDC1 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome ATP2B3 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome CAMK2A alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome C12orf57 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome CUL4B alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome GRIN1 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome GJA1 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome GNB1 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome FMR1 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome DHX30 alacrima, achalasia, and mental retardation syndrome alacrima_achalasia_and_mental_retardation_syndrome Alacrima, Achalasia, and Mental Retardation Syndrome DYRK1A aland island eye disease aland_island_eye_disease Aland Island Eye Disease PRR12 DOID:0050630 aland island eye disease aland_island_eye_disease Aland Island Eye Disease RPE65 DOID:0050630 albinism, oculocutaneous, type ii albinism_oculocutaneous_type_ii Albinism, Oculocutaneous, Type Ii TYRP1 DOID:0070096 alzheimer disease alzheimer_disease Alzheimer Disease MIR106B DOID:10652 alzheimer disease 4 alzheimer_disease_4_2 Alzheimer Disease 4 PSEN1 DOID:0110040 amaurosis congenita, cone-rod type, with congenital hypertrichosis amaurosis_congenita_cone_rod_type_with_congenital_hypertrichosis_2 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis CNNM4 amblyopia amblyopia Amblyopia TFAP2A DOID:10376 anemia, sideroblastic, 3, pyridoxine-refractory anemia_sideroblastic_3_pyridoxine_refractory Anemia, Sideroblastic, 3, Pyridoxine-Refractory SLC25A38 angioedema, hereditary, type i angioedema_hereditary_type_i Angioedema, Hereditary, Type I F12 anus disease anus_disease Anus Disease FREM2 DOID:3128 aortic valve disease 1 aortic_valve_disease_1 Aortic Valve Disease 1 SOS1 DOID:62 aortic valve disease 2 aortic_valve_disease_2 Aortic Valve Disease 2 DSP DOID:1712 apnea, central sleep apnea_central_sleep Apnea, Central Sleep CHAT arrhythmogenic right ventricular dysplasia, familial, 9 arrhythmogenic_right_ventricular_dysplasia_familial_9 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 PLN DOID:0110077 arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain SARS DOID:0060688 arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain PITPNM3 DOID:0060688 arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain LEMD3 DOID:0060688 arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis_renal_dysfunction_and_cholestasis_1 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 TSC1 DOID:0050763 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy KIAA0753 DOID:0050592 aspiration pneumonia aspiration_pneumonia Aspiration Pneumonia CHAT DOID:0050152 astigmatism astigmatism Astigmatism ANKRD11 DOID:11782 ataxia and polyneuropathy, adult-onset ataxia_and_polyneuropathy_adult_onset Ataxia and Polyneuropathy, Adult-Onset ATM ataxia and polyneuropathy, adult-onset ataxia_and_polyneuropathy_adult_onset Ataxia and Polyneuropathy, Adult-Onset NPC1 ataxia and polyneuropathy, adult-onset ataxia_and_polyneuropathy_adult_onset Ataxia and Polyneuropathy, Adult-Onset SETX ataxia and polyneuropathy, adult-onset ataxia_and_polyneuropathy_adult_onset Ataxia and Polyneuropathy, Adult-Onset SLC2A1 atp6v0a2-related cutis laxa atp6v0a2_related_cutis_laxa Atp6v0a2-Related Cutis Laxa ATP6V0A2 atrial heart septal defect atrial_heart_septal_defect Atrial Heart Septal Defect RPL5 DOID:1882 atrial heart septal defect atrial_heart_septal_defect Atrial Heart Septal Defect DMD DOID:1882 atrial heart septal defect 7 atrial_heart_septal_defect_7 Atrial Heart Septal Defect 7 NKX2-5 DOID:0110112 atrial septal defect 1 atrial_septal_defect_1 Atrial Septal Defect 1 TBX5 DOID:0110106 atrial septal defect 4 atrial_septal_defect_4 Atrial Septal Defect 4 PTPN11 DOID:0110109 atrial septal defect 4 atrial_septal_defect_4 Atrial Septal Defect 4 TBX5 DOID:0110109 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 SCN1B atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 ACTN2 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 MIPEP atrioventricular septal defect atrioventricular_septal_defect Atrioventricular Septal Defect SMARCAL1 DOID:0050651 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder C12orf57 DOID:1094 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder SCAPER DOID:1094 autonomic nervous system disease autonomic_nervous_system_disease Autonomic Nervous System Disease DRD4 DOID:11465 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability ZNF462 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability SCN2A DOID:0060307 autosomal recessive cutis laxa type iii autosomal_recessive_cutis_laxa_type_iii Autosomal Recessive Cutis Laxa Type Iii ALDH18A1 DOID:0070143 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability LHFPL5 DOID:0060308 autosomal recessive primary microcephaly autosomal_recessive_primary_microcephaly Autosomal Recessive Primary Microcephaly CIT bap1 tumor predisposition syndrome bap1_tumor_predisposition_syndrome Bap1 Tumor Predisposition Syndrome BRCA2 bap1 tumor predisposition syndrome bap1_tumor_predisposition_syndrome Bap1 Tumor Predisposition Syndrome PMS2 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome CEP19 DOID:1935 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 SDCCAG8 DOID:0110123 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 NPHP1 DOID:0110123 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 TRIM32 DOID:0110123 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 TTC8 DOID:0110123 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 LZTFL1 DOID:0110123 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 CEP19 DOID:0110123 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 BBS5 DOID:0110123 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 BBIP1 DOID:0110123 basal ganglia disease basal_ganglia_disease Basal Ganglia Disease DNAH7 DOID:679 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome COL7A1 DOID:5572 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome DMD DOID:5572 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome RYR1 DOID:5572 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome MFN2 DOID:5572 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes CPA6 DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes CSTB DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes ASAH1 DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SIK1B DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SCN1B DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes EPM2A DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes CHD2 DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes GRIN1 DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SPTAN1 DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SNIP1 DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SLC6A1 DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes STRADA DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SZT2 DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes IER3IP1 DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes PLCB1 DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes WWOX DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SLC2A1 DOID:3329 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes RELN DOID:3329 benign mesothelioma benign_mesothelioma Benign Mesothelioma BCL10 DOID:2645 bilirubin metabolic disorder bilirubin_metabolic_disorder Bilirubin Metabolic Disorder F12 DOID:2741 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 DDHD2 DOID:9970 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 PRMT7 DOID:9970 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 GLDC DOID:9970 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 MIR143 DOID:9970 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 POLG DOID:9970 brain small vessel disease with or without ocular anomalies brain_small_vessel_disease_with_or_without_ocular_anomalies Brain Small Vessel Disease with or Without Ocular Anomalies VPS11 DOID:0090125 brain stem glioma brain_stem_glioma Brain Stem Glioma FGFR1 DOID:4202 brain stem glioma brain_stem_glioma Brain Stem Glioma BRAF DOID:4202 branchiootic syndrome 1 branchiootic_syndrome_1 Branchiootic Syndrome 1 LOXHD1 branchiootic syndrome 1 branchiootic_syndrome_1 Branchiootic Syndrome 1 GJB2 breast adenocarcinoma breast_adenocarcinoma Breast Adenocarcinoma RB1CC1 DOID:3458 breast adenocarcinoma breast_adenocarcinoma Breast Adenocarcinoma SLC22A18 DOID:3458 breast cancer breast_cancer Breast Cancer MIR127 DOID:3459 breast cancer breast_cancer Breast Cancer MIR204 DOID:3459 breast cancer breast_cancer Breast Cancer MIR31 DOID:3459 breast cancer breast_cancer Breast Cancer HERC2 DOID:3459 breast cancer breast_cancer Breast Cancer MIR125A DOID:3459 breast cancer breast_cancer Breast Cancer MIR196A2 DOID:3459 breast cancer breast_cancer Breast Cancer MIR210 DOID:3459 breast ductal carcinoma breast_ductal_carcinoma Breast Ductal Carcinoma RAD54L DOID:3007 brody myopathy brody_myopathy Brody Myopathy CYP24A1 DOID:0050692 brody myopathy brody_myopathy Brody Myopathy DMD DOID:0050692 brugada syndrome 5 brugada_syndrome_5 Brugada Syndrome 5 SCN5A DOID:0110222 brugada syndrome 8 brugada_syndrome_8 Brugada Syndrome 8 CFTR DOID:0110225 butyrylcholinesterase deficiency butyrylcholinesterase_deficiency Butyrylcholinesterase Deficiency CASK caffey disease caffey_disease Caffey Disease A4GALT DOID:4257 cakut cakut Cakut LIFR DOID:0080205 camptodactyly 1 camptodactyly_1 Camptodactyly 1 MT-ATP6 cardiac conduction defect cardiac_conduction_defect Cardiac Conduction Defect PLN cardiac conduction defect cardiac_conduction_defect Cardiac Conduction Defect DSP cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e TTN DOID:0110457 cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e RBM20 DOID:0110457 cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e DES DOID:0110457 cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e LMNA DOID:0110457 cardiomyopathy, familial hypertrophic, 4 cardiomyopathy_familial_hypertrophic_4 Cardiomyopathy, Familial Hypertrophic, 4 BRAF DOID:0110310 cardiomyopathy, familial hypertrophic, 4 cardiomyopathy_familial_hypertrophic_4 Cardiomyopathy, Familial Hypertrophic, 4 NCF1 DOID:0110310 cardiomyopathy, infantile histiocytoid cardiomyopathy_infantile_histiocytoid Cardiomyopathy, Infantile Histiocytoid NDUFB11 DOID:0080198 cask-related disorders cask_related_disorders Cask-Related Disorders CASK central hypoventilation syndrome, congenital central_hypoventilation_syndrome_congenital Central Hypoventilation Syndrome, Congenital PMPCA DOID:0060731 central sleep apnea central_sleep_apnea Central Sleep Apnea CHAT DOID:9220 cerebellar atrophy, developmental delay, and seizures cerebellar_atrophy_developmental_delay_and_seizures Cerebellar Atrophy, Developmental Delay, and Seizures EBF3 cerebellar atrophy, developmental delay, and seizures cerebellar_atrophy_developmental_delay_and_seizures Cerebellar Atrophy, Developmental Delay, and Seizures BRPF1 cerebellar hypoplasia cerebellar_hypoplasia Cerebellar Hypoplasia FLG cerebral visual impairment cerebral_visual_impairment Cerebral Visual Impairment GNB1 cerebrooculofacioskeletal syndrome 1 cerebrooculofacioskeletal_syndrome_1 Cerebrooculofacioskeletal Syndrome 1 ERCC2 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease DNAJC5 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease CLN8 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease CLN6 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease CLN3 childhood absence epilepsy childhood_absence_epilepsy Childhood Absence Epilepsy PCDH19 DOID:1825 childhood absence epilepsy childhood_absence_epilepsy Childhood Absence Epilepsy FGFR3 DOID:1825 choreatic disease choreatic_disease Choreatic Disease FRRS1L DOID:12859 chronic kidney failure chronic_kidney_failure Chronic Kidney Failure MKS1 DOID:784 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 LRRC6 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 HYDIN DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 DNAL1 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 MCIDAS DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 RSPH1 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 SPAG1 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 ZMYND10 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 RSPH9 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 RSPH4A DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 RSPH3 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 DNAI2 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 DNAH5 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 CCDC151 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 CCDC114 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 CCDC103 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 ARMC4 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 CCDC40 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 CCNO DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 DNAAF3 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 DNAAF2 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 DNAAF1 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 CFAP298 DOID:0110594 ciliary dyskinesia, primary, 1 ciliary_dyskinesia_primary_1 Ciliary Dyskinesia, Primary, 1 DNAH1 DOID:0110594 clear cell renal cell carcinoma clear_cell_renal_cell_carcinoma Clear Cell Renal Cell Carcinoma HNF1A DOID:4467 cleft palate, isolated cleft_palate_isolated Cleft Palate, Isolated GNB1 DOID:674 coats disease coats_disease Coats Disease RHO DOID:7765 coloboma of iris coloboma_of_iris Coloboma of Iris TFAP2A coloboma of iris coloboma_of_iris Coloboma of Iris PRR12 coloboma of macula coloboma_of_macula Coloboma of Macula RBP4 DOID:12270 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant YAP1 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant RBP4 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant CYP1B1 colonic benign neoplasm colonic_benign_neoplasm Colonic Benign Neoplasm BRAF DOID:235 color vision deficiency color_vision_deficiency Color Vision Deficiency NR2E3 combined oxidative phosphorylation deficiency 1 combined_oxidative_phosphorylation_deficiency_1 Combined Oxidative Phosphorylation Deficiency 1 NARS2 congenital contractures congenital_contractures Congenital Contractures RYR1 congenital disorder of glycosylation, type ii congenital_disorder_of_glycosylation_type_ii_2 Congenital Disorder of Glycosylation, Type Ii CCDC115 DOID:0050571 congenital disorder of glycosylation, type ii congenital_disorder_of_glycosylation_type_ii_2 Congenital Disorder of Glycosylation, Type Ii TMEM199 DOID:0050571 congenital myasthenic syndrome associated with acetylcholine receptor deficiency congenital_myasthenic_syndrome_associated_with_acetylcholine_receptor_deficiency Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency MUSK congenital myasthenic syndrome associated with acetylcholine receptor deficiency congenital_myasthenic_syndrome_associated_with_acetylcholine_receptor_deficiency Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency DOK7 constipation constipation Constipation PPOX DOID:2089 convulsions, familial infantile, with paroxysmal choreoathetosis convulsions_familial_infantile_with_paroxysmal_choreoathetosis Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis CSTB coronary artery anomaly coronary_artery_anomaly Coronary Artery Anomaly MIR126 DOID:3393 corpus callosum, agenesis of corpus_callosum_agenesis_of Corpus Callosum, Agenesis of DCC corpus callosum, agenesis of corpus_callosum_agenesis_of Corpus Callosum, Agenesis of MED12 corpus callosum, agenesis of corpus_callosum_agenesis_of Corpus Callosum, Agenesis of ARID1B corpus callosum, agenesis of corpus_callosum_agenesis_of Corpus Callosum, Agenesis of ADNP creatine phosphokinase, elevated serum creatine_phosphokinase_elevated_serum Creatine Phosphokinase, Elevated Serum ANO5 creatine phosphokinase, elevated serum creatine_phosphokinase_elevated_serum Creatine Phosphokinase, Elevated Serum GDAP1 creatine phosphokinase, elevated serum creatine_phosphokinase_elevated_serum Creatine Phosphokinase, Elevated Serum DMD creatine phosphokinase, elevated serum creatine_phosphokinase_elevated_serum Creatine Phosphokinase, Elevated Serum TCAP creatine phosphokinase, elevated serum creatine_phosphokinase_elevated_serum Creatine Phosphokinase, Elevated Serum LAMA2 crisponi/cold-induced sweating syndrome 1 crisponi_cold_induced_sweating_syndrome_1 Crisponi/cold-Induced Sweating Syndrome 1 KLHL7 crouzon syndrome crouzon_syndrome Crouzon Syndrome TCOF1 DOID:2339 cryptorchidism, unilateral or bilateral cryptorchidism_unilateral_or_bilateral Cryptorchidism, Unilateral or Bilateral SMCHD1 DOID:11383 cryptorchidism, unilateral or bilateral cryptorchidism_unilateral_or_bilateral Cryptorchidism, Unilateral or Bilateral ANKRD11 DOID:11383 cutis laxa, autosomal recessive, type ia cutis_laxa_autosomal_recessive_type_ia Cutis Laxa, Autosomal Recessive, Type Ia EFEMP2 DOID:0070135 cyclic vomiting syndrome cyclic_vomiting_syndrome Cyclic Vomiting Syndrome MT-TL1 deafness, nonsyndromic sensorineural, mitochondrial deafness_nonsyndromic_sensorineural_mitochondrial Deafness, Nonsyndromic Sensorineural, Mitochondrial MT-TH diabetes insipidus, nephrogenic, x-linked diabetes_insipidus_nephrogenic_x_linked Diabetes Insipidus, Nephrogenic, X-Linked AQP2 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent PRMT7 DOID:9352 diarrhea diarrhea Diarrhea WNT2B DOID:13250 diffuse large b-cell lymphoma diffuse_large_b_cell_lymphoma Diffuse Large B-Cell Lymphoma MIR145 DOID:0050745 distal hereditary motor neuropathies distal_hereditary_motor_neuropathies Distal Hereditary Motor Neuropathies IGHMBP2 duane retraction syndrome 1 duane_retraction_syndrome_1 Duane Retraction Syndrome 1 MAFB duane retraction syndrome 2 duane_retraction_syndrome_2 Duane Retraction Syndrome 2 MAFB duodenal atresia duodenal_atresia Duodenal Atresia CFTR DOID:0080216 dyskeratosis congenita, autosomal dominant 1 dyskeratosis_congenita_autosomal_dominant_1 Dyskeratosis Congenita, Autosomal Dominant 1 TINF2 DOID:0070014 dyskeratosis congenita, autosomal dominant 1 dyskeratosis_congenita_autosomal_dominant_1 Dyskeratosis Congenita, Autosomal Dominant 1 TERT DOID:0070014 dystonia dystonia Dystonia MYO5A DOID:543 dystonia dystonia Dystonia CSTB DOID:543 dystonia 13, torsion, autosomal dominant dystonia_13_torsion_autosomal_dominant Dystonia 13, Torsion, Autosomal Dominant DYT13 DOID:0090037 dystonia 17, torsion, autosomal recessive dystonia_17_torsion_autosomal_recessive Dystonia 17, Torsion, Autosomal Recessive DYT17 ehlers-danlos syndrome, arthrochalasia type, 1 ehlers_danlos_syndrome_arthrochalasia_type_1 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 ALB ehlers-danlos syndrome, hypermobility type ehlers_danlos_syndrome_hypermobility_type Ehlers-Danlos Syndrome, Hypermobility Type COL3A1 DOID:14757 ehlers-danlos syndrome, hypermobility type ehlers_danlos_syndrome_hypermobility_type Ehlers-Danlos Syndrome, Hypermobility Type RET DOID:14757 ehlers-danlos syndrome, hypermobility type ehlers_danlos_syndrome_hypermobility_type Ehlers-Danlos Syndrome, Hypermobility Type PLOD1 DOID:14757 encephalopathy encephalopathy_familial_infantile Encephalopathy TGFB1 epicanthus epicanthus Epicanthus ANKRD11 epicanthus epicanthus Epicanthus TFAP2A epilepsy, focal, with speech disorder and with or without mental retardation epilepsy_focal_with_speech_disorder_and_with_or_without_mental_retardation Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation NEXMIF epilepsy, idiopathic generalized epilepsy_idiopathic_generalized Epilepsy, Idiopathic Generalized POLG DOID:1827 epilepsy, idiopathic generalized epilepsy_idiopathic_generalized Epilepsy, Idiopathic Generalized DDHD2 DOID:1827 epilepsy, idiopathic generalized epilepsy_idiopathic_generalized Epilepsy, Idiopathic Generalized GLDC DOID:1827 epilepsy, progressive myoclonic, 1b epilepsy_progressive_myoclonic_1b_2 Epilepsy, Progressive Myoclonic, 1b TBC1D24 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 CACNA2D2 DOID:0050709 epileptic encephalopathy, early infantile, 6 epileptic_encephalopathy_early_infantile_6 Epileptic Encephalopathy, Early Infantile, 6 SNX27 DOID:0060171 esotropia esotropia Esotropia TFAP2A DOID:9840 esotropia esotropia Esotropia ANKRD11 DOID:9840 familial bicuspid aortic valve familial_bicuspid_aortic_valve Familial Bicuspid Aortic Valve DSP familial hyperlipidemia familial_hyperlipidemia Familial Hyperlipidemia PRMT7 DOID:1168 fatty liver disease, nonalcoholic 1 fatty_liver_disease_nonalcoholic_1 Fatty Liver Disease, Nonalcoholic 1 PRMT7 febrile seizures febrile_seizures Febrile Seizures CHAT fgfr-related craniosynostosis syndromes fgfr_related_craniosynostosis_syndromes Fgfr-Related Craniosynostosis Syndromes FGFR2 fragile x syndrome fragile_x_syndrome Fragile X Syndrome SERPINA1 DOID:14261 fucosidosis fucosidosis Fucosidosis DCX DOID:14500 fundus dystrophy fundus_dystrophy Fundus Dystrophy NR2E3 DOID:8501 fundus dystrophy fundus_dystrophy Fundus Dystrophy RP1 DOID:8501 fundus dystrophy fundus_dystrophy Fundus Dystrophy RP2 DOID:8501 fundus dystrophy fundus_dystrophy Fundus Dystrophy IMPG2 DOID:8501 fundus dystrophy fundus_dystrophy Fundus Dystrophy PROM1 DOID:8501 fundus dystrophy fundus_dystrophy Fundus Dystrophy ABHD12 DOID:8501 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma MAP2K2 DOID:3717 gastroesophageal reflux gastroesophageal_reflux Gastroesophageal Reflux CHAT DOID:8534 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor MEN1 DOID:9253 glucocorticoid deficiency 1 glucocorticoid_deficiency_1 Glucocorticoid Deficiency 1 MRAP glucose intolerance glucose_intolerance Glucose Intolerance MT-TL1 DOID:10603 gout gout Gout DARS2 DOID:13189 growth hormone deficiency, isolated partial growth_hormone_deficiency_isolated_partial Growth Hormone Deficiency, Isolated Partial GHR growth hormone insensitivity, partial growth_hormone_insensitivity_partial Growth Hormone Insensitivity, Partial GHSR headache headache Headache FKRP heart valve disease heart_valve_disease Heart Valve Disease SMC1A hemangioma hemangioma Hemangioma RPL5 DOID:255 hemifacial hyperplasia hemifacial_hyperplasia Hemifacial Hyperplasia EFNB1 hemifacial hyperplasia hemifacial_hyperplasia Hemifacial Hyperplasia FGFR3 hemolytic uremic syndrome, atypical 1 hemolytic_uremic_syndrome_atypical_1 Hemolytic Uremic Syndrome, Atypical 1 BAAT DOID:0080301 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR23A DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR222 DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR181C DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR20A DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR23B DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR25 DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR181A1 DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR19A DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR181A2 DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR93 DOID:916 hydrocephalus hydrocephalus Hydrocephalus PLOD1 DOID:10908 hydrocephalus, nonsyndromic, autosomal recessive 1 hydrocephalus_nonsyndromic_autosomal_recessive_1 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 MPDZ hydrocephalus, nonsyndromic, autosomal recessive 1 hydrocephalus_nonsyndromic_autosomal_recessive_1 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 ALDH7A1 hydrocephalus, nonsyndromic, autosomal recessive 1 hydrocephalus_nonsyndromic_autosomal_recessive_1 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 ATP1A3 hydrocephalus, normal-pressure hydrocephalus_normal_pressure Hydrocephalus, Normal-Pressure PMPCA DOID:1572 hydronephrosis hydronephrosis Hydronephrosis C12orf57 DOID:11111 hypertelorism hypertelorism Hypertelorism POGZ hypertelorism hypertelorism Hypertelorism MED13L hypertelorism hypertelorism Hypertelorism TFAP2A hypertelorism hypertelorism Hypertelorism ANKRD11 hypertelorism hypertelorism Hypertelorism COL1A1 hypertension, essential hypertension_essential Hypertension, Essential COL4A5 DOID:10825 hypertension, essential hypertension_essential Hypertension, Essential DARS2 DOID:10825 hypertension, essential hypertension_essential Hypertension, Essential PKD1 DOID:10825 hypertension, essential hypertension_essential Hypertension, Essential PKD2 DOID:10825 hypertension, essential hypertension_essential Hypertension, Essential MEN1 DOID:10825 hypertension, essential hypertension_essential Hypertension, Essential F12 DOID:10825 hypertonia hypertonia Hypertonia SMC1A hypertrichosis hypertrichosis Hypertrichosis NAGLU DOID:420 hyperuricemic nephropathy, familial juvenile, 3 hyperuricemic_nephropathy_familial_juvenile_3 Hyperuricemic Nephropathy, Familial Juvenile, 3 HNF1B hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial hypomagnesemia_hypertension_and_hypercholesterolemia_mitochondrial Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial MT-TI hypoplastic left heart syndrome hypoplastic_left_heart_syndrome Hypoplastic Left Heart Syndrome TBX20 DOID:9955 hypoplastic right heart syndrome hypoplastic_right_heart_syndrome Hypoplastic Right Heart Syndrome TBX20 ichthyosis, congenital, autosomal recessive 1 ichthyosis_congenital_autosomal_recessive_1 Ichthyosis, Congenital, Autosomal Recessive 1 SULT2B1 DOID:0060656 ichthyosis, congenital, autosomal recessive 2 ichthyosis_congenital_autosomal_recessive_2 Ichthyosis, Congenital, Autosomal Recessive 2 SULT2B1 DOID:0060710 idiopathic and/or familial pulmonary arterial hypertension idiopathic_and_or_familial_pulmonary_arterial_hypertension Idiopathic and/or Familial Pulmonary Arterial Hypertension BMPR2 immunodeficiency, common variable, 1 immunodeficiency_common_variable_1 Immunodeficiency, Common Variable, 1 NFKB2 inflammatory bowel disease 25, autosomal recessive inflammatory_bowel_disease_25_autosomal_recessive Inflammatory Bowel Disease 25, Autosomal Recessive TGFB1 inherited bone marrow failure syndromes inherited_bone_marrow_failure_syndromes Inherited Bone Marrow Failure Syndromes DNAJC21 interatrial communication interatrial_communication Interatrial Communication RPL5 interatrial communication interatrial_communication Interatrial Communication NKX2-5 interatrial communication interatrial_communication Interatrial Communication DMD intraocular pressure quantitative trait locus intraocular_pressure_quantitative_trait_locus Intraocular Pressure Quantitative Trait Locus ZEB1 isolated brachycephaly isolated_brachycephaly Isolated Brachycephaly POGZ isolated growth hormone deficiency, type ia isolated_growth_hormone_deficiency_type_ia Isolated Growth Hormone Deficiency, Type Ia BRCA2 DOID:0060873 isolated hyperckemia isolated_hyperckemia Isolated Hyperckemia LAMA2 isolated hyperckemia isolated_hyperckemia Isolated Hyperckemia TCAP isolated hyperckemia isolated_hyperckemia Isolated Hyperckemia GDAP1 isolated hyperckemia isolated_hyperckemia Isolated Hyperckemia DMD isolated hyperckemia isolated_hyperckemia Isolated Hyperckemia ANO5 isolated pierre robin sequence isolated_pierre_robin_sequence Isolated Pierre Robin Sequence MED13L joubert syndrome with jeune asphyxiating thoracic dystrophy joubert_syndrome_with_jeune_asphyxiating_thoracic_dystrophy Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy IFT140 kearns-sayre syndrome kearns_sayre_syndrome Kearns-Sayre Syndrome MT-TY DOID:539 lactic acidosis lactic_acidosis Lactic Acidosis CHAT DOID:3650 late-onset retinal degeneration late_onset_retinal_degeneration Late-Onset Retinal Degeneration USH2A DOID:0060869 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis RP2 DOID:14791 leber optic atrophy and dystonia leber_optic_atrophy_and_dystonia Leber Optic Atrophy and Dystonia MT-ND3 leber optic atrophy and dystonia leber_optic_atrophy_and_dystonia Leber Optic Atrophy and Dystonia MT-ND1 leiomyoma, uterine leiomyoma_uterine Leiomyoma, Uterine MIRLET7C DOID:13223 lens subluxation lens_subluxation Lens Subluxation TFAP2A DOID:11364 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic GNB1 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic ACTB leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid SF3B1 DOID:9119 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR16-1 DOID:1040 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR181A2 DOID:1040 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR15A DOID:1040 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR34A DOID:1040 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 DSP DOID:0110644 lung cancer lung_cancer Lung Cancer MIR141 DOID:3908 lung cancer lung_cancer Lung Cancer MIR197 DOID:3908 lung cancer lung_cancer Lung Cancer MIRLET7C DOID:3908 lung cancer lung_cancer Lung Cancer MIR128-2 DOID:3908 lung cancer lung_cancer Lung Cancer MIR221 DOID:3908 lung cancer lung_cancer Lung Cancer MIR130A DOID:3908 lung cancer lung_cancer Lung Cancer MIR20A DOID:3908 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 APC DOID:3910 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma PTPN11 DOID:3907 macrocephaly/megalencephaly syndrome, autosomal recessive macrocephaly_megalencephaly_syndrome_autosomal_recessive Macrocephaly/megalencephaly Syndrome, Autosomal Recessive SATB2 macrocephaly/megalencephaly syndrome, autosomal recessive macrocephaly_megalencephaly_syndrome_autosomal_recessive Macrocephaly/megalencephaly Syndrome, Autosomal Recessive RPS6KA3 macrodactyly of toes macrodactyly_of_toes Macrodactyly of Toes PIK3CA macrostomia, isolated macrostomia_isolated Macrostomia, Isolated POGZ macular degeneration, age-related, 1 macular_degeneration_age_related_1 Macular Degeneration, Age-Related, 1 BBS10 DOID:4448 macular degeneration, age-related, 2 macular_degeneration_age_related_2 Macular Degeneration, Age-Related, 2 MT-TL1 DOID:0110015 macular dystrophy, concentric annular macular_dystrophy_concentric_annular Macular Dystrophy, Concentric Annular MMACHC macular dystrophy, concentric annular macular_dystrophy_concentric_annular Macular Dystrophy, Concentric Annular CRX macular dystrophy, concentric annular macular_dystrophy_concentric_annular Macular Dystrophy, Concentric Annular ABCA4 macular dystrophy, retinal, 1, north carolina type macular_dystrophy_retinal_1_north_carolina_type Macular Dystrophy, Retinal, 1, North Carolina Type LOC111365204 mandibulofacial dysostosis with mental retardation mandibulofacial_dysostosis_with_mental_retardation Mandibulofacial Dysostosis with Mental Retardation ABCA4 megakaryocytic leukemia megakaryocytic_leukemia Megakaryocytic Leukemia PTEN DOID:8761 megakaryocytic leukemia megakaryocytic_leukemia Megakaryocytic Leukemia TP53 DOID:8761 megalencephaly-capillary malformation-polymicrogyria syndrome megalencephaly_capillary_malformation_polymicrogyria_syndrome Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome PIK3R2 megalencephaly-capillary malformation-polymicrogyria syndrome megalencephaly_capillary_malformation_polymicrogyria_syndrome Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome AKT3 melanoma melanoma Melanoma MIR222 DOID:1909 melanoma melanoma Melanoma MIR193B DOID:1909 melanoma melanoma Melanoma MIR182 DOID:1909 melanoma melanoma Melanoma MIR23B DOID:1909 meningioma, radiation-induced meningioma_radiation_induced Meningioma, Radiation-Induced PDGFB meningioma, radiation-induced meningioma_radiation_induced Meningioma, Radiation-Induced NF2 mental retardation, autosomal recessive 5 mental_retardation_autosomal_recessive_5_2 Mental Retardation, Autosomal Recessive 5 SYNGAP1 mental retardation, x-linked, associated with fragile site fraxe mental_retardation_x_linked_associated_with_fragile_site_fraxe Mental Retardation, X-Linked, Associated with Fragile Site Fraxe SERPINA1 metatarsus adductus metatarsus_adductus Metatarsus Adductus MED13L methylmalonic aciduria due to methylmalonyl-coa mutase deficiency methylmalonic_aciduria_due_to_methylmalonyl_coa_mutase_deficiency Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency MMAA DOID:0060740 microcephaly microcephaly Microcephaly CC2D2A DOID:10907 microcephaly microcephaly Microcephaly FLG DOID:10907 microcephaly 5, primary, autosomal recessive microcephaly_5_primary_autosomal_recessive Microcephaly 5, Primary, Autosomal Recessive TINF2 migraine with aura migraine_with_aura Migraine with Aura FLNA DOID:10024 migraine with or without aura 1 migraine_with_or_without_aura_1 Migraine with or Without Aura 1 PPOX DOID:6364 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-TN DOID:0060536 mitochondrial complex iii deficiency, nuclear type 1 mitochondrial_complex_iii_deficiency_nuclear_type_1 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 UQCRB DOID:0080111 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency MT-TL1 DOID:3762 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency MT-TN DOID:3762 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders RMND1 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders RRM2B mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders YARS2 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TE mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders SPG7 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders GFM2 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders ATP5F1D mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders GFER mitochondrial dna depletion syndrome 1 mitochondrial_dna_depletion_syndrome_1_mngie_type Mitochondrial Dna Depletion Syndrome 1 MT-TK DOID:0080119 mitochondrial neurogastrointestinal encephalomyopathy mitochondrial_neurogastrointestinal_encephalomyopathy Mitochondrial Neurogastrointestinal Encephalomyopathy MT-TK mitral valve insufficiency mitral_valve_insufficiency Mitral Valve Insufficiency TBX5 DOID:11502 mucopolysaccharidosis type vi mucopolysaccharidosis_type_vi_maroteaux_lamy Mucopolysaccharidosis Type Vi GUSB DOID:12800 mucopolysaccharidosis, type iiia mucopolysaccharidosis_type_iiia_2 Mucopolysaccharidosis, Type Iiia GNPTAB multicystic dysplastic kidney multicystic_dysplastic_kidney Multicystic Dysplastic Kidney PKD2 multicystic dysplastic kidney multicystic_dysplastic_kidney Multicystic Dysplastic Kidney PKD1 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects multiple_joint_dislocations_short_stature_and_craniofacial_dysmorphism_with_or_without_congenital_heart_defects Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects B4GALT7 muscular dystrophy muscular_dystrophy Muscular Dystrophy GOSR2 DOID:9884 muscular dystrophy, duchenne type muscular_dystrophy_duchenne_type Muscular Dystrophy, Duchenne Type MIR29A DOID:11723 mutism mutism Mutism SHANK3 DOID:4189 myasthenic syndrome, congenital, 16 myasthenic_syndrome_congenital_16 Myasthenic Syndrome, Congenital, 16 TACO1 DOID:0110682 myasthenic syndrome, congenital, 1b, fast-channel myasthenic_syndrome_congenital_1b_fast_channel Myasthenic Syndrome, Congenital, 1b, Fast-Channel CHRNE DOID:0110662 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency myasthenic_syndrome_congenital_4c_associated_with_acetylcholine_receptor_deficiency Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency MUSK DOID:0110679 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency myasthenic_syndrome_congenital_4c_associated_with_acetylcholine_receptor_deficiency Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency DOK7 DOID:0110679 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome MT-TL1 DOID:0050908 myofibromatosis, infantile, 1 myofibromatosis_infantile_1 Myofibromatosis, Infantile, 1 NOTCH3 myopathy myopathy Myopathy MT-TQ DOID:423 myopathy myopathy Myopathy MT-TP DOID:423 myopathy, centronuclear, x-linked myopathy_centronuclear_x_linked Myopathy, Centronuclear, X-Linked DNM2 myopathy, congenital, with fiber-type disproportion myopathy_congenital_with_fiber_type_disproportion Myopathy, Congenital, with Fiber-Type Disproportion RYR1 nail disease nail_disease Nail Disease POGZ DOID:4123 nail disorder, nonsyndromic congenital, 4 nail_disorder_nonsyndromic_congenital_4 Nail Disorder, Nonsyndromic Congenital, 4 COL7A1 DOID:0080082 nail disorder, nonsyndromic congenital, 4 nail_disorder_nonsyndromic_congenital_4 Nail Disorder, Nonsyndromic Congenital, 4 KRT17 DOID:0080082 nail disorder, nonsyndromic congenital, 9 nail_disorder_nonsyndromic_congenital_9 Nail Disorder, Nonsyndromic Congenital, 9 ARID1B DOID:0080087 neuronal migration disorders neuronal_migration_disorders Neuronal Migration Disorders DYNC1H1 neuronal migration disorders neuronal_migration_disorders Neuronal Migration Disorders WDR62 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers neuropathy_hereditary_motor_and_sensory_with_deafness_mental_retardation_and_absent_sensory_large_myelinated_fibers Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers PMP22 neutropenia, severe congenital, 1, autosomal dominant neutropenia_severe_congenital_1_autosomal_dominant_2 Neutropenia, Severe Congenital, 1, Autosomal Dominant TCIRG1 night blindness, congenital stationary, type 1a night_blindness_congenital_stationary_type_1a Night Blindness, Congenital Stationary, Type 1a RHO DOID:0110870 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness TECTA non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness STRC non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness RDX non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness POU3F4 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness GIPC3 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness COCH non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness USH2A non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness TRIOBP non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness KARS non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness PJVK non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness MARVELD2 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness GSDME non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness KCNQ4 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness MYH9 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness GRXCR1 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness OTOF non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness OTOGL non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness CEACAM16 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness MYO6 noonan syndrome 3 noonan_syndrome_3 Noonan Syndrome 3 SHOC2 DOID:0060581 noonan syndrome with multiple lentigines noonan_syndrome_with_multiple_lentigines Noonan Syndrome with Multiple Lentigines PPP1R13L occipital encephalocele occipital_encephalocele Occipital Encephalocele CEP290 oculogyric crisis oculogyric_crisis Oculogyric Crisis ATP1A3 DOID:0050842 oligohydramnios oligohydramnios Oligohydramnios CC2D2A DOID:12215 omphalocele, autosomal omphalocele_autosomal Omphalocele, Autosomal PLOD1 omphalocele, autosomal omphalocele_autosomal Omphalocele, Autosomal GJB2 oncocytoma oncocytoma Oncocytoma MT-ND6 DOID:5389 optic disk drusen optic_disk_drusen Optic Disk Drusen RHO DOID:13561 optic nerve disease optic_nerve_disease Optic Nerve Disease TYR DOID:1891 optic nerve hypoplasia, bilateral optic_nerve_hypoplasia_bilateral Optic Nerve Hypoplasia, Bilateral HERC2 optic nerve hypoplasia, bilateral optic_nerve_hypoplasia_bilateral Optic Nerve Hypoplasia, Bilateral COL4A1 orofaciodigital syndrome iii orofaciodigital_syndrome_iii Orofaciodigital Syndrome Iii OFD1 DOID:0060373 orthostatic intolerance orthostatic_intolerance Orthostatic Intolerance PLOD1 DOID:988 osteogenesis imperfecta, type xii osteogenesis_imperfecta_type_xii_2 Osteogenesis Imperfecta, Type Xii FKBP10 DOID:0110348 ovarian cancer ovarian_cancer Ovarian Cancer MIR34C DOID:2394 paine syndrome paine_syndrome Paine Syndrome PTPRQ DOID:0060164 palmoplantar keratoderma, nonepidermolytic, focal 1 palmoplantar_keratoderma_nonepidermolytic_focal_1 Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 KRT6C palmoplantar keratoderma, punctate type ii palmoplantar_keratoderma_punctate_type_ii Palmoplantar Keratoderma, Punctate Type Ii BRCA1 DOID:0080213 pancreas adenocarcinoma pancreas_adenocarcinoma Pancreas Adenocarcinoma MAP2K2 DOID:4074 pancreatic beta cell agenesis with neonatal diabetes mellitus pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus KCNJ11 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR221 DOID:4905 paresthesia paresthesia Paresthesia FKRP parkinson disease 10 parkinson_disease_10 Parkinson Disease 10 VPS13C parkinson disease 6, autosomal recessive early-onset parkinson_disease_6_autosomal_recessive_early_onset Parkinson Disease 6, Autosomal Recessive Early-Onset PARK7 DOID:0060369 paroxysmal nocturnal hemoglobinuria 1 paroxysmal_nocturnal_hemoglobinuria_1 Paroxysmal Nocturnal Hemoglobinuria 1 LOC110806306 patent ductus arteriosus 1 patent_ductus_arteriosus_1 Patent Ductus Arteriosus 1 PTPN11 DOID:13832 peeling skin syndrome 1 peeling_skin_syndrome_1 Peeling Skin Syndrome 1 TGM5 pelizaeus-merzbacher-like disease pelizaeus_merzbacher_like_disease Pelizaeus-Merzbacher-Like Disease SNAP29 peroxisome biogenesis disorder 1a peroxisome_biogenesis_disorder_1a Peroxisome Biogenesis Disorder 1a PEX10 pierre robin syndrome pierre_robin_syndrome Pierre Robin Syndrome MED13L pituitary adenoma 4, acth-secreting pituitary_adenoma_4_acth_secreting Pituitary Adenoma 4, Acth-Secreting GNAI2 polycystic liver disease 1 with or without kidney cysts polycystic_liver_disease_1_with_or_without_kidney_cysts Polycystic Liver Disease 1 with or Without Kidney Cysts LRP5 polydactyly, postaxial, type a1 polydactyly_postaxial_type_a1 Polydactyly, Postaxial, Type A1 BBS12 polydactyly, postaxial, type a1 polydactyly_postaxial_type_a1 Polydactyly, Postaxial, Type A1 CC2D2A polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan_body_myopathy_1_with_or_without_immunodeficiency Polyglucosan Body Myopathy 1 with or Without Immunodeficiency SURF1 polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan_body_myopathy_1_with_or_without_immunodeficiency Polyglucosan Body Myopathy 1 with or Without Immunodeficiency FKRP polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan_body_myopathy_1_with_or_without_immunodeficiency Polyglucosan Body Myopathy 1 with or Without Immunodeficiency DMD polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan_body_myopathy_1_with_or_without_immunodeficiency Polyglucosan Body Myopathy 1 with or Without Immunodeficiency CAPN3 polyposis syndrome, hereditary mixed, 1 polyposis_syndrome_hereditary_mixed_1 Polyposis Syndrome, Hereditary Mixed, 1 SCG5 pontocerebellar hypoplasia, type 1a pontocerebellar_hypoplasia_type_1a_2 Pontocerebellar Hypoplasia, Type 1a CHMP1A DOID:0060265 pontoneocerebellar hypoplasia pontoneocerebellar_hypoplasia Pontoneocerebellar Hypoplasia TBC1D23 porphyria cutanea tarda, type i porphyria_cutanea_tarda_type_i Porphyria Cutanea Tarda, Type I UROD precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia BCL10 premature ovarian failure 1 premature_ovarian_failure_1 Premature Ovarian Failure 1 NBN DOID:5426 prickle1-related progressive myoclonus epilepsy with ataxia prickle1_related_progressive_myoclonus_epilepsy_with_ataxia Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia TBC1D24 prostate cancer prostate_cancer Prostate Cancer MIR20A DOID:10286 pseudohypoaldosteronism, type iia pseudohypoaldosteronism_type_iia Pseudohypoaldosteronism, Type Iia CUL3 pseudohypoaldosteronism, type iia pseudohypoaldosteronism_type_iia Pseudohypoaldosteronism, Type Iia KLHL3 pseudohypoaldosteronism, type iie pseudohypoaldosteronism_type_iie_2 Pseudohypoaldosteronism, Type Iie KLHL3 pseudovaginal perineoscrotal hypospadias pseudovaginal_perineoscrotal_hypospadias Pseudovaginal Perineoscrotal Hypospadias SMCHD1 pulmonary hypertension, primary, 1 pulmonary_hypertension_primary_1 Pulmonary Hypertension, Primary, 1 KCNK3 pulmonary hypertension, primary, 1 pulmonary_hypertension_primary_1 Pulmonary Hypertension, Primary, 1 RPL5 pulmonary hypertension, primary, 1 pulmonary_hypertension_primary_1 Pulmonary Hypertension, Primary, 1 FOXF1 pulmonary hypertension, primary, 1 pulmonary_hypertension_primary_1 Pulmonary Hypertension, Primary, 1 ENG pulmonary hypertension, primary, 1 pulmonary_hypertension_primary_1 Pulmonary Hypertension, Primary, 1 ACVRL1 pulmonic stenosis pulmonic_stenosis Pulmonic Stenosis SOS1 rare adenocarcinoma of the breast rare_adenocarcinoma_of_the_breast Rare Adenocarcinoma of the Breast SLC22A18 rare adenocarcinoma of the breast rare_adenocarcinoma_of_the_breast Rare Adenocarcinoma of the Breast RB1CC1 rare adenocarcinoma of the breast rare_adenocarcinoma_of_the_breast Rare Adenocarcinoma of the Breast KRAS rare isolated myopia rare_isolated_myopia Rare Isolated Myopia COL2A1 rare isolated myopia rare_isolated_myopia Rare Isolated Myopia CHD7 rare isolated myopia rare_isolated_myopia Rare Isolated Myopia FBN1 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 FGFR3 DOID:4465 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 HRAS DOID:4465 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 BRAF DOID:4465 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 ATM DOID:4465 renal dysplasia, cystic renal_dysplasia_cystic Renal Dysplasia, Cystic PKD1 renal dysplasia, cystic renal_dysplasia_cystic Renal Dysplasia, Cystic CEP290 renal hypodysplasia/aplasia 3 renal_hypodysplasia_aplasia_3 Renal Hypodysplasia/aplasia 3 FGFR3 renal hypoplasia renal_hypoplasia Renal Hypoplasia PRMT7 DOID:0080204 respiratory failure respiratory_failure Respiratory Failure CHAT DOID:11162 retinitis pigmentosa-deafness syndrome retinitis_pigmentosa_deafness_syndrome Retinitis Pigmentosa-Deafness Syndrome MT-TS2 DOID:0110829 retinochoroidal coloboma retinochoroidal_coloboma Retinochoroidal Coloboma CHD7 right atrial isomerism right_atrial_isomerism Right Atrial Isomerism GUCY2C DOID:0060856 robinow syndrome, autosomal dominant 1 robinow_syndrome_autosomal_dominant_1 Robinow Syndrome, Autosomal Dominant 1 DVL3 DOID:0060766 rubinstein-taybi syndrome 1 rubinstein_taybi_syndrome_1 Rubinstein-Taybi Syndrome 1 EP300 sacral defect with anterior meningocele sacral_defect_with_anterior_meningocele Sacral Defect with Anterior Meningocele RYR1 scoliosis, isolated 1 scoliosis_isolated_1 Scoliosis, Isolated 1 MAPK7 secondary progressive multiple sclerosis secondary_progressive_multiple_sclerosis Secondary Progressive Multiple Sclerosis HNRNPA1 DOID:0050783 segawa syndrome, autosomal recessive segawa_syndrome_autosomal_recessive Segawa Syndrome, Autosomal Recessive GCH1 seizure disorder seizure_disorder Seizure Disorder WDR45 seizure disorder seizure_disorder Seizure Disorder MYO5A seizure disorder seizure_disorder Seizure Disorder NALCN seizure disorder seizure_disorder Seizure Disorder OTUD6B seizure disorder seizure_disorder Seizure Disorder HIVEP1 seizure disorder seizure_disorder Seizure Disorder GSPT2 seizure disorder seizure_disorder Seizure Disorder DYRK1A seizure disorder seizure_disorder Seizure Disorder FGFR3 seizure disorder seizure_disorder Seizure Disorder FRRS1L seizure disorder seizure_disorder Seizure Disorder GNB1 seizure disorder seizure_disorder Seizure Disorder POGZ seizure disorder seizure_disorder Seizure Disorder PURA seizure disorder seizure_disorder Seizure Disorder SYN3 seizure disorder seizure_disorder Seizure Disorder UBE3A seizure disorder seizure_disorder Seizure Disorder TANGO2 seizure disorder seizure_disorder Seizure Disorder TSC1 seizure disorder seizure_disorder Seizure Disorder SPAST seizure disorder seizure_disorder Seizure Disorder SCO2 seizure disorder seizure_disorder Seizure Disorder DNAH7 seizure disorder seizure_disorder Seizure Disorder SLC2A1 seizure disorder seizure_disorder Seizure Disorder TSHR seizure disorder seizure_disorder Seizure Disorder MPP4 seizure disorder seizure_disorder Seizure Disorder ALDH7A1 seizure disorder seizure_disorder Seizure Disorder ADNP seizure disorder seizure_disorder Seizure Disorder DHX30 seizure disorder seizure_disorder Seizure Disorder ATP1A3 seizure disorder seizure_disorder Seizure Disorder ARFGEF2 seizure disorder seizure_disorder Seizure Disorder C12orf57 seizure disorder seizure_disorder Seizure Disorder COL3A1 seizure disorder seizure_disorder Seizure Disorder CUL4B seizure disorder seizure_disorder Seizure Disorder CDK20 senior-loken syndrome 3 senior_loken_syndrome_3 Senior-Loken Syndrome 3 NPHP1 sensorineural hearing loss sensorineural_hearing_loss Sensorineural Hearing Loss POGZ DOID:10003 setbp1 disorder setbp1_disorder Setbp1 Disorder SETBP1 severe early-childhood-onset retinal dystrophy severe_early_childhood_onset_retinal_dystrophy Severe Early-Childhood-Onset Retinal Dystrophy ABCA4 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly TRAF3IP1 DOID:0110085 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly LBR DOID:0110085 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly KIAA0753 DOID:0110085 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly EVC2 DOID:0110085 short-rib thoracic dysplasia 12 short_rib_thoracic_dysplasia_12 Short-Rib Thoracic Dysplasia 12 TTC21B DOID:9249 short-rib thoracic dysplasia 12 short_rib_thoracic_dysplasia_12 Short-Rib Thoracic Dysplasia 12 WDR19 DOID:9249 short-rib thoracic dysplasia 12 short_rib_thoracic_dysplasia_12 Short-Rib Thoracic Dysplasia 12 NEK1 DOID:9249 short-rib thoracic dysplasia 12 short_rib_thoracic_dysplasia_12 Short-Rib Thoracic Dysplasia 12 IFT80 DOID:9249 short-rib thoracic dysplasia 12 short_rib_thoracic_dysplasia_12 Short-Rib Thoracic Dysplasia 12 EVC2 DOID:9249 short-rib thoracic dysplasia 6 with or without polydactyly short_rib_thoracic_dysplasia_6_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly FUZ DOID:0110092 shprintzen-goldberg craniosynostosis syndrome shprintzen_goldberg_craniosynostosis_syndrome Shprintzen-Goldberg Craniosynostosis Syndrome KIF1BP skin melanoma skin_melanoma Skin Melanoma FBN1 DOID:8923 spastic paraplegia 16, x-linked spastic_paraplegia_16_x_linked Spastic Paraplegia 16, X-Linked SPG16 DOID:0110769 spastic paraplegia 34, x-linked spastic_paraplegia_34_x_linked Spastic Paraplegia 34, X-Linked SPG34 DOID:0110785 specific granule deficiency 1 specific_granule_deficiency_1 Specific Granule Deficiency 1 SMARCD2 spermatogenic failure 1 spermatogenic_failure_1 Spermatogenic Failure 1 TEX15 spermatogenic failure 1 spermatogenic_failure_1 Spermatogenic Failure 1 PDHA2 spinocerebellar ataxia with axonal neuropathy type 2 spinocerebellar_ataxia_with_axonal_neuropathy_type_2 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 HCHGQ3 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck MIR21 DOID:5520 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck MIR205 DOID:5520 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck MAP2K2 DOID:5520 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck MIR210 DOID:5520 strabismus strabismus Strabismus MED13L DOID:540 strabismus strabismus Strabismus PCDH19 DOID:540 stroke, ischemic stroke_ischemic Stroke, Ischemic PIK3CA DOID:3526 stroke, ischemic stroke_ischemic Stroke, Ischemic FBN1 DOID:3526 stroke, ischemic stroke_ischemic Stroke, Ischemic MT-TL1 DOID:3526 suppression of tumorigenicity 12 suppression_of_tumorigenicity_12 Suppression of Tumorigenicity 12 HRAS DOID:2526 sutton disease 2 sutton_disease_2 Sutton Disease 2 VPS13B syndromic x-linked intellectual disability syndromic_x_linked_intellectual_disability Syndromic X-Linked Intellectual Disability NHS DOID:0060309 talipes equinovarus talipes_equinovarus Talipes Equinovarus DARS2 talipes equinovarus talipes_equinovarus Talipes Equinovarus CC2D2A telangiectasia, hereditary hemorrhagic, type 1 telangiectasia_hereditary_hemorrhagic_type_1 Telangiectasia, Hereditary Hemorrhagic, Type 1 ACVRL1 testicular germ cell tumor testicular_germ_cell_tumor Testicular Germ Cell Tumor MIR372 testicular germ cell tumor testicular_germ_cell_tumor Testicular Germ Cell Tumor MIR373 testicular germ cell tumor testicular_germ_cell_tumor Testicular Germ Cell Tumor BRAF tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot NIPBL DOID:6419 thrombophilia due to thrombin defect thrombophilia_due_to_thrombin_defect Thrombophilia Due to Thrombin Defect PLOD1 thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 MIR222 DOID:3969 thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 MIR221 DOID:3969 thyroid carcinoma, familial medullary thyroid_carcinoma_familial_medullary Thyroid Carcinoma, Familial Medullary KRAS DOID:3973 thyroid hormone metabolism, abnormal thyroid_hormone_metabolism_abnormal Thyroid Hormone Metabolism, Abnormal TRU-TCA1-1 tracheoesophageal fistula with or without esophageal atresia tracheoesophageal_fistula_with_or_without_esophageal_atresia Tracheoesophageal Fistula with or Without Esophageal Atresia BRCA2 tracheoesophageal fistula with or without esophageal atresia tracheoesophageal_fistula_with_or_without_esophageal_atresia Tracheoesophageal Fistula with or Without Esophageal Atresia PALB2 trichomegaly trichomegaly Trichomegaly ARID1B tricuspid valve insufficiency tricuspid_valve_insufficiency Tricuspid Valve Insufficiency PTPN11 DOID:4080 tumor predisposition syndrome tumor_predisposition_syndrome Tumor Predisposition Syndrome BRCA2 tumor predisposition syndrome tumor_predisposition_syndrome Tumor Predisposition Syndrome PMS2 usher syndrome, type ig usher_syndrome_type_ig Usher Syndrome, Type Ig PCDH15 DOID:0110834 vascular disease vascular_disease Vascular Disease MIR145 DOID:178 ventricular fibrillation, paroxysmal familial, 1 ventricular_fibrillation_paroxysmal_familial_1 Ventricular Fibrillation, Paroxysmal Familial, 1 DSP ventricular fibrillation, paroxysmal familial, 1 ventricular_fibrillation_paroxysmal_familial_1 Ventricular Fibrillation, Paroxysmal Familial, 1 NKX2-5 ventricular fibrillation, paroxysmal familial, 1 ventricular_fibrillation_paroxysmal_familial_1 Ventricular Fibrillation, Paroxysmal Familial, 1 CACNA1C ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy ventricular_tachycardia_catecholaminergic_polymorphic_1_with_or_without_atrial_dysfunction_and_or_dilated_cardiomyopathy Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy DSP DOID:0060675 vesicoureteral reflux 1 vesicoureteral_reflux_1 Vesicoureteral Reflux 1 C12orf57 DOID:9620 vesicoureteral reflux 1 vesicoureteral_reflux_1 Vesicoureteral Reflux 1 MED13L DOID:9620 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 CHEK2 DOID:5176 wilms tumor 5 wilms_tumor_5 Wilms Tumor 5 FZD6 wolff-parkinson-white syndrome wolff_parkinson_white_syndrome Wolff-Parkinson-White Syndrome TBX20 DOID:384 x-linked intellectual disability, shashi type x_linked_intellectual_disability_shashi_type X-Linked Intellectual Disability, Shashi Type RBMX yemenite deaf-blind hypopigmentation syndrome yemenite_deaf_blind_hypopigmentation_syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome CEP290 yemenite deaf-blind hypopigmentation syndrome yemenite_deaf_blind_hypopigmentation_syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome PMPCA yemenite deaf-blind hypopigmentation syndrome yemenite_deaf_blind_hypopigmentation_syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome USH2A zellweger spectrum disorder zellweger_spectrum_disorder Zellweger Spectrum Disorder PEX10 generalized epilepsy with febrile seizures plus generalized_epilepsy_with_febrile_seizures_plus Generalized Epilepsy with Febrile Seizures Plus GABRG2 DOID:0060170 metaphyseal anadysplasia metaphyseal_anadysplasia Metaphyseal Anadysplasia MMP13 band heterotopia band_heterotopia Band Heterotopia DCX DOID:0111169 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome ARHGAP31 DOID:0060227 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness CABP4 DOID:0050534 fibrosarcoma fibrosarcoma Fibrosarcoma ETV6 DOID:3355 congenital ichthyosiform erythroderma congenital_ichthyosiform_erythroderma Congenital Ichthyosiform Erythroderma ABCA12 DOID:1699 alveolar soft part sarcoma alveolar_soft_part_sarcoma Alveolar Soft Part Sarcoma TFE3 DOID:4239 hutchinson-gilford progeria syndrome hutchinson_gilford_progeria_syndrome Hutchinson-Gilford Progeria Syndrome ZMPSTE24 DOID:3911 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa GUCA1B DOID:10584 cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome HDAC8 DOID:11725 cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome RAD21 DOID:11725 exudative vitreoretinopathy exudative_vitreoretinopathy Exudative Vitreoretinopathy TSPAN12 DOID:0050535 immunodeficiency-centromeric instability-facial anomalies syndrome immunodeficiency_centromeric_instability_facial_anomalies_syndrome Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome ZBTB24 DOID:0090007 fuchs' endothelial dystrophy fuchs_endothelial_dystrophy Fuchs' Endothelial Dystrophy COL8A2 DOID:11555 neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX1 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency TNFRSF13B DOID:12177 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL35A DOID:1339 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome POMGNT1 DOID:0050560 tooth agenesis tooth_agenesis Tooth Agenesis WNT10A DOID:0050591 immunodeficiency-centromeric instability-facial anomalies syndrome immunodeficiency_centromeric_instability_facial_anomalies_syndrome Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome CDCA7 DOID:0090007 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS10 DOID:1339 acrodysostosis acrodysostosis Acrodysostosis PDE4D DOID:14669 hereditary spherocytosis hereditary_spherocytosis Hereditary Spherocytosis ANK1 DOID:12971 dowling-degos disease dowling_degos_disease Dowling-Degos Disease POFUT1 DOID:0060256 ewing sarcoma ewing_sarcoma Ewing Sarcoma ERG DOID:5614 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome DAG1 DOID:0050560 reducing body myopathy reducing_body_myopathy Reducing Body Myopathy FHL1 DOID:0080090 arterial calcification of infancy arterial_calcification_of_infancy Arterial Calcification of Infancy ABCC6 DOID:0050644 factor xiii deficiency factor_xiii_deficiency Factor Xiii Deficiency F13A1 DOID:2211 immunodeficiency-centromeric instability-facial anomalies syndrome immunodeficiency_centromeric_instability_facial_anomalies_syndrome Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome HELLS DOID:0090007 stargardt disease stargardt_disease Stargardt Disease ELOVL4 DOID:0050817 acrodysostosis acrodysostosis Acrodysostosis PRKAR1A DOID:14669 perrault syndrome perrault_syndrome Perrault Syndrome HSD17B4 DOID:0050857 brugada syndrome brugada_syndrome Brugada Syndrome SCN3B DOID:0050451 bruck syndrome bruck_syndrome Bruck Syndrome FKBP10 DOID:0060231 periventricular nodular heterotopia periventricular_nodular_heterotopia Periventricular Nodular Heterotopia ERMARD DOID:0050454 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis RD3 DOID:14791 porokeratosis porokeratosis Porokeratosis MVK DOID:3805 van buchem disease van_buchem_disease Van Buchem Disease LRP5 DOID:0080036 seckel syndrome seckel_syndrome Seckel Syndrome CEP152 DOID:0050569 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young BLK DOID:0050524 seckel syndrome seckel_syndrome Seckel Syndrome CENPJ DOID:0050569 chronic myelomonocytic leukemia chronic_myelomonocytic_leukemia Chronic Myelomonocytic Leukemia ETV6 DOID:0080188 branchiootic syndrome branchiootic_syndrome Branchiootic Syndrome SIX1 DOID:0060232 perrault syndrome perrault_syndrome Perrault Syndrome CLPP DOID:0050857 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa MAK DOID:10584 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome ISPD DOID:0050560 uv-sensitive syndrome uv_sensitive_syndrome Uv-Sensitive Syndrome ERCC8 DOID:0060240 cole-carpenter syndrome cole_carpenter_syndrome_3 Cole-Carpenter Syndrome P4HB DOID:0060438 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis KCNJ13 DOID:14791 kallmann syndrome kallmann_syndrome Kallmann Syndrome KISS1R DOID:3614 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS29 DOID:1339 advanced sleep phase syndrome advanced_sleep_phase_syndrome Advanced Sleep Phase Syndrome CSNK1D DOID:0050628 brugada syndrome brugada_syndrome Brugada Syndrome HCN4 DOID:0050451 fibrochondrogenesis fibrochondrogenesis Fibrochondrogenesis COL11A2 DOID:0060465 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS7 DOID:1339 noonan syndrome with multiple lentigines noonan_syndrome_with_multiple_lentigines Noonan Syndrome with Multiple Lentigines BRAF walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome POMGNT2 DOID:0050560 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency TNFRSF13C DOID:12177 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SPATA7 DOID:10584 facioscapulohumeral muscular dystrophy 1 facioscapulohumeral_muscular_dystrophy_1 Facioscapulohumeral Muscular Dystrophy 1 SMCHD1 DOID:11727 hereditary spherocytosis hereditary_spherocytosis Hereditary Spherocytosis SLC4A1 DOID:12971 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation KCNE2 DOID:0050650 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome IFT27 DOID:1935 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young CEL DOID:0050524 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL15 DOID:1339 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome RBPJ DOID:0060227 brugada syndrome brugada_syndrome Brugada Syndrome KCND3 DOID:0050451 kallmann syndrome kallmann_syndrome Kallmann Syndrome CHD7 DOID:3614 melanoma, uveal melanoma_uveal Melanoma, Uveal GNAQ DOID:6039 craniodiaphyseal dysplasia craniodiaphyseal_dysplasia Craniodiaphyseal Dysplasia SOST DOID:0080032 periventricular nodular heterotopia periventricular_nodular_heterotopia Periventricular Nodular Heterotopia NEDD4L DOID:0050454 autoimmune lymphoproliferative syndrome autoimmune_lymphoproliferative_syndrome Autoimmune Lymphoproliferative Syndrome PRKCD DOID:6688 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 CALM2 DOID:0110644 proteus syndrome proteus_syndrome Proteus Syndrome PTEN DOID:13482 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS28 DOID:1339 multiple synostoses syndrome multiple_synostoses_syndrome Multiple Synostoses Syndrome FGF9 DOID:0050794 kallmann syndrome kallmann_syndrome Kallmann Syndrome NSMF DOID:3614 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa DHDDS DOID:10584 perrault syndrome perrault_syndrome Perrault Syndrome TWNK DOID:0050857 townes-brocks syndrome townes_brocks_syndrome Townes-Brocks Syndrome DACT1 DOID:0050887 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa AGBL5 DOID:10584 exudative vitreoretinopathy exudative_vitreoretinopathy Exudative Vitreoretinopathy CTNNB1 DOID:0050535 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa TTC8 DOID:10584 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 TMEM231 DOID:0070115 porokeratosis porokeratosis Porokeratosis FDPS DOID:3805 benign familial neonatal epilepsy benign_familial_neonatal_epilepsy Benign Familial Neonatal Epilepsy KCNQ3 DOID:14777 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ZNF513 DOID:10584 sclerosteosis sclerosteosis Sclerosteosis LRP4 DOID:0060251 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa REEP6 DOID:10584 pitt-hopkins-like syndrome pitt_hopkins_like_syndrome Pitt-Hopkins-Like Syndrome NRXN1 epilepsy, idiopathic generalized 10 epilepsy_idiopathic_generalized_10_2 Epilepsy, Idiopathic Generalized 10 CACNB4 DOID:4890 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency ICOS DOID:12177 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SLC7A14 DOID:10584 brugada syndrome brugada_syndrome Brugada Syndrome SLMAP DOID:0050451 antenatal bartter syndrome antenatal_bartter_syndrome Antenatal Bartter Syndrome SLC12A1 perrault syndrome perrault_syndrome Perrault Syndrome ERAL1 DOID:0050857 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ZNF408 DOID:10584 essential thrombocythemia essential_thrombocythemia Essential Thrombocythemia JAK2 DOID:2224 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa BBS2 DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa OFD1 DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ARL2BP DOID:10584 geleophysic dysplasia geleophysic_dysplasia Geleophysic Dysplasia FBN1 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic CCND1 DOID:1040 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SAG DOID:10584 hyperaldosteronism, familial, type i hyperaldosteronism_familial_type_i Hyperaldosteronism, Familial, Type I CYP11B2 DOID:14080 brugada syndrome brugada_syndrome Brugada Syndrome TRPM4 DOID:0050451 singleton-merten syndrome singleton_merten_syndrome_3 Singleton-Merten Syndrome IFIH1 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type WDR72 cole-carpenter syndrome cole_carpenter_syndrome_3 Cole-Carpenter Syndrome SEC24D DOID:0060438 desmoplastic small round cell tumor desmoplastic_small_round_cell_tumor Desmoplastic Small Round Cell Tumor EWSR1 zimmermann-laband syndrome zimmermann_laband_syndrome Zimmermann-Laband Syndrome KCNH1 neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX10 metaphyseal anadysplasia metaphyseal_anadysplasia Metaphyseal Anadysplasia MMP9 autosomal dominant progressive external ophthalmoplegia autosomal_dominant_progressive_external_ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia POLG2 autosomal dominant progressive external ophthalmoplegia autosomal_dominant_progressive_external_ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia RRM2B leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis GDF6 DOID:14791 butterfly-shaped pigment dystrophy butterfly_shaped_pigment_dystrophy Butterfly-Shaped Pigment Dystrophy CTNNA1 singleton-merten syndrome singleton_merten_syndrome_3 Singleton-Merten Syndrome DDX58 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction MYH7 DOID:0060480 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease FKRP primary pigmented nodular adrenocortical disease primary_pigmented_nodular_adrenocortical_disease Primary Pigmented Nodular Adrenocortical Disease PRKAR1A DOID:0060280 46 xy gonadal dysgenesis 46_xy_gonadal_dysgenesis 46 Xy Gonadal Dysgenesis SRY DOID:14448 nut midline carcinoma nut_midline_carcinoma Nut Midline Carcinoma NUTM1 DOID:0060463 gitelman syndrome gitelman_syndrome Gitelman Syndrome CLCNKB DOID:0050450 desmoplastic small round cell tumor desmoplastic_small_round_cell_tumor Desmoplastic Small Round Cell Tumor WT1 kallmann syndrome kallmann_syndrome Kallmann Syndrome CCDC141 DOID:3614 microtia microtia Microtia HOXA2 zimmermann-laband syndrome zimmermann_laband_syndrome Zimmermann-Laband Syndrome ATP6V1B2 neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX6 fibrosarcoma fibrosarcoma Fibrosarcoma NTRK3 DOID:3355 brachydactyly, type a1 brachydactyly_type_a1_2 Brachydactyly, Type A1 BMPR1B DOID:0110964 atrial standstill atrial_standstill Atrial Standstill SCN5A usher syndrome type 2 usher_syndrome_type_2 Usher Syndrome Type 2 USH2A DOID:0110827 kid syndrome kid_syndrome Kid Syndrome GJB2 frontometaphyseal dysplasia frontometaphyseal_dysplasia Frontometaphyseal Dysplasia MAP3K7 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome ADAR DOID:0050629 cerulean cataract cerulean_cataract Cerulean Cataract MAF cap myopathy cap_myopathy Cap Myopathy TPM3 congenital ichthyosiform erythroderma congenital_ichthyosiform_erythroderma Congenital Ichthyosiform Erythroderma CYP4F22 DOID:1699 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma KIAA1549 DOID:4851 exfoliative ichthyosis exfoliative_ichthyosis Exfoliative Ichthyosis CSTA familial progressive hyperpigmentation familial_progressive_hyperpigmentation Familial Progressive Hyperpigmentation KITLG maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young KCNJ11 DOID:0050524 endometrial stromal sarcoma endometrial_stromal_sarcoma Endometrial Stromal Sarcoma SUZ12 DOID:4226 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome IFIH1 DOID:0050629 cap myopathy cap_myopathy Cap Myopathy TPM2 congenital short bowel syndrome congenital_short_bowel_syndrome Congenital Short Bowel Syndrome FLNA benign familial infantile epilepsy benign_familial_infantile_epilepsy Benign Familial Infantile Epilepsy PRRT2 DOID:0060169 chronic myelomonocytic leukemia chronic_myelomonocytic_leukemia Chronic Myelomonocytic Leukemia PDGFRB DOID:0080188 polycythemia vera polycythemia_vera Polycythemia Vera MPL DOID:8997 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa NR2E3 DOID:10584 congenital ichthyosiform erythroderma congenital_ichthyosiform_erythroderma Congenital Ichthyosiform Erythroderma PNPLA1 DOID:1699 usher syndrome type 2 usher_syndrome_type_2 Usher Syndrome Type 2 ADGRV1 DOID:0110827 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation KCNJ2 DOID:0050650 hereditary spherocytosis hereditary_spherocytosis Hereditary Spherocytosis EPB42 DOID:12971 muir-torre syndrome muir_torre_syndrome Muir-Torre Syndrome MSH6 DOID:0050465 usher syndrome type 2 usher_syndrome_type_2 Usher Syndrome Type 2 WHRN DOID:0110827 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 TARDBP DOID:332 hereditary spherocytosis hereditary_spherocytosis Hereditary Spherocytosis SPTA1 DOID:12971 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction TNNT2 DOID:0060480 weill-marchesani syndrome weill_marchesani_syndrome Weill-Marchesani Syndrome LTBP2 DOID:0050475 hereditary hemorrhagic telangiectasia hereditary_hemorrhagic_telangiectasia Hereditary Hemorrhagic Telangiectasia GDF2 DOID:1270 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome LAGE3 DOID:0060364 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency CR2 DOID:12177 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome TPRKB DOID:0060364 tooth agenesis tooth_agenesis Tooth Agenesis AXIN2 DOID:0050591 childhood absence epilepsy childhood_absence_epilepsy Childhood Absence Epilepsy GABRB3 DOID:1825 corneal dystrophy, posterior polymorphous, 1 corneal_dystrophy_posterior_polymorphous_1 Corneal Dystrophy, Posterior Polymorphous, 1 COL8A2 DOID:0110855 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome OSGEP DOID:0060364 cold-induced sweating syndrome cold_induced_sweating_syndrome Cold-Induced Sweating Syndrome KLHL7 DOID:0060294 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome TP53RK DOID:0060364 factor xiii deficiency factor_xiii_deficiency Factor Xiii Deficiency F13B DOID:2211 primary pigmented nodular adrenocortical disease primary_pigmented_nodular_adrenocortical_disease Primary Pigmented Nodular Adrenocortical Disease PDE11A DOID:0060280 usher syndrome type 2 usher_syndrome_type_2 Usher Syndrome Type 2 MYO7A DOID:0110827 proximal symphalangism proximal_symphalangism Proximal Symphalangism GDF5 DOID:0050788 renal-hepatic-pancreatic dysplasia renal_hepatic_pancreatic_dysplasia Renal-Hepatic-Pancreatic Dysplasia NEK8 DOID:0060259 polycythemia vera polycythemia_vera Polycythemia Vera TET2 DOID:8997 tooth agenesis tooth_agenesis Tooth Agenesis IRF6 DOID:0050591 brugada syndrome brugada_syndrome Brugada Syndrome KCNE3 DOID:0050451 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome POMK DOID:0050560 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction TPM1 DOID:0060480 familial retinoblastoma familial_retinoblastoma Familial Retinoblastoma RB1 DOID:4648 visceral heterotaxy visceral_heterotaxy Visceral Heterotaxy CFAP53 DOID:0050545 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency NFKB2 DOID:12177 pancreatic agenesis pancreatic_agenesis Pancreatic Agenesis PTF1A DOID:0050877 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRPF6 DOID:10584 west syndrome west_syndrome West Syndrome CDKL5 DOID:0050562 46 xy gonadal dysgenesis 46_xy_gonadal_dysgenesis 46 Xy Gonadal Dysgenesis DHH DOID:14448 acrocallosal syndrome acrocallosal_syndrome Acrocallosal Syndrome GLI3 DOID:9250 persistent hyperplastic primary vitreous persistent_hyperplastic_primary_vitreous Persistent Hyperplastic Primary Vitreous ATOH7 DOID:0060282 congenital mesoblastic nephroma congenital_mesoblastic_nephroma Congenital Mesoblastic Nephroma ETV6 DOID:4773 familial cold autoinflammatory syndrome familial_cold_autoinflammatory_syndrome Familial Cold Autoinflammatory Syndrome NLRC4 DOID:0090061 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita ACD DOID:2729 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation GJA5 DOID:0050650 ebstein anomaly ebstein_anomaly Ebstein Anomaly MYH7 DOID:14289 primary pigmented nodular adrenocortical disease primary_pigmented_nodular_adrenocortical_disease Primary Pigmented Nodular Adrenocortical Disease PDE8B DOID:0060280 myelofibrosis myelofibrosis Myelofibrosis TET2 DOID:4971 west syndrome west_syndrome West Syndrome ARX DOID:0050562 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation KCNA5 DOID:0050650 kallmann syndrome kallmann_syndrome Kallmann Syndrome TACR3 DOID:3614 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency CD19 DOID:12177 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic ATM DOID:1040 tooth agenesis tooth_agenesis Tooth Agenesis WNT10B DOID:0050591 seckel syndrome seckel_syndrome Seckel Syndrome TRAIP DOID:0050569 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction MIB1 DOID:0060480 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa GUCY2D DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRPF4 DOID:10584 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a PALB2 DOID:13636 duane retraction syndrome duane_retraction_syndrome Duane Retraction Syndrome MAFB DOID:12557 kallmann syndrome kallmann_syndrome Kallmann Syndrome SEMA3A DOID:3614 kallmann syndrome kallmann_syndrome Kallmann Syndrome HS6ST1 DOID:3614 kallmann syndrome kallmann_syndrome Kallmann Syndrome SOX10 DOID:3614 pachyonychia congenita 1 pachyonychia_congenita_1 Pachyonychia Congenita 1 KRT6A DOID:0050449 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa IDH3B DOID:10584 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young APPL1 DOID:0050524 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot GATA5 DOID:6419 tukel syndrome tukel_syndrome Tukel Syndrome KIF21A DOID:0080143 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation SCN5A DOID:0050650 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness GNB3 DOID:0050534 46 xy gonadal dysgenesis 46_xy_gonadal_dysgenesis 46 Xy Gonadal Dysgenesis SOX9 DOID:14448 kallmann syndrome kallmann_syndrome Kallmann Syndrome FEZF1 DOID:3614 gingival fibromatosis gingival_fibromatosis Gingival Fibromatosis REST DOID:0060466 lymphoma, mucosa-associated lymphoid type lymphoma_mucosa_associated_lymphoid_type Lymphoma, Mucosa-Associated Lymphoid Type MALT1 DOID:0050909 lennox-gastaut syndrome lennox_gastaut_syndrome Lennox-Gastaut Syndrome SCN1A DOID:0050561 pachyonychia congenita 1 pachyonychia_congenita_1 Pachyonychia Congenita 1 KRT6B DOID:0050449 pitt-hopkins-like syndrome pitt_hopkins_like_syndrome Pitt-Hopkins-Like Syndrome CNTNAP2 kallmann syndrome kallmann_syndrome Kallmann Syndrome HESX1 DOID:3614 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa HGSNAT DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa POMGNT1 DOID:10584 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 KCNE1 DOID:0110644 postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes RAPSN retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CACNA1F DOID:10584 omenn syndrome omenn_syndrome Omenn Syndrome LIG4 DOID:0060010 tukel syndrome tukel_syndrome Tukel Syndrome PHOX2A DOID:0080143 hemochromatosis type 2 hemochromatosis_type_2 Hemochromatosis Type 2 HJV DOID:0111034 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COX5A DOID:3762 complete androgen insensitivity syndrome complete_androgen_insensitivity_syndrome Complete Androgen Insensitivity Syndrome AR fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a BRIP1 DOID:13636 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCE DOID:13636 generalized epilepsy with febrile seizures plus generalized_epilepsy_with_febrile_seizures_plus Generalized Epilepsy with Febrile Seizures Plus STX1B DOID:0060170 hereditary night blindness hereditary_night_blindness Hereditary Night Blindness GRK1 DOID:8498 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease FKTN muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease POMT1 pachyonychia congenita 1 pachyonychia_congenita_1 Pachyonychia Congenita 1 KRT17 DOID:0050449 autosomal dominant progressive external ophthalmoplegia autosomal_dominant_progressive_external_ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia TWNK epilepsy, idiopathic generalized 10 epilepsy_idiopathic_generalized_10_2 Epilepsy, Idiopathic Generalized 10 GABRA1 DOID:4890 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 ANG DOID:332 wilson-turner x-linked mental retardation syndrome wilson_turner_x_linked_mental_retardation_syndrome Wilson-Turner X-Linked Mental Retardation Syndrome HDAC8 DOID:0060814 epileptic encephalopathy, early infantile, 6 epileptic_encephalopathy_early_infantile_6 Epileptic Encephalopathy, Early Infantile, 6 GABRG2 DOID:0060171 autosomal dominant progressive external ophthalmoplegia autosomal_dominant_progressive_external_ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia POLG amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type SLC24A4 mosaic variegated aneuploidy syndrome mosaic_variegated_aneuploidy_syndrome Mosaic Variegated Aneuploidy Syndrome TRIP13 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type MMP20 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa NEK2 DOID:10584 atypical teratoid rhabdoid tumor atypical_teratoid_rhabdoid_tumor Atypical Teratoid Rhabdoid Tumor SMARCB1 DOID:2129 peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX6 DOID:0050444 cerulean cataract cerulean_cataract Cerulean Cataract CRYBB2 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type KLK4 autosomal dominant progressive external ophthalmoplegia autosomal_dominant_progressive_external_ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia SLC25A4 lymphoma, mucosa-associated lymphoid type lymphoma_mucosa_associated_lymphoid_type Lymphoma, Mucosa-Associated Lymphoid Type BIRC3 DOID:0050909 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type GPR68 epileptic encephalopathy, early infantile, 6 epileptic_encephalopathy_early_infantile_6 Epileptic Encephalopathy, Early Infantile, 6 SCN1B DOID:0060171 butterfly-shaped pigment dystrophy butterfly_shaped_pigment_dystrophy Butterfly-Shaped Pigment Dystrophy PRPH2 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 KCNE2 DOID:0110644 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome SCO2 DOID:3652 rheumatoid arthritis, systemic juvenile rheumatoid_arthritis_systemic_juvenile Rheumatoid Arthritis, Systemic Juvenile LACC1 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type ODAPH amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 VAPB DOID:332 brachydactyly, type a1 brachydactyly_type_a1_2 Brachydactyly, Type A1 GDF5 DOID:0110964 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCB DOID:13636 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a BRCA2 DOID:13636 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor ALK DOID:0050905 kearns-sayre syndrome kearns_sayre_syndrome Kearns-Sayre Syndrome RRM2B DOID:539 epithelioid hemangioendothelioma epithelioid_hemangioendothelioma Epithelioid Hemangioendothelioma CAMTA1 sarcoma, synovial sarcoma_synovial Sarcoma, Synovial SS18 DOID:5485 autosomal dominant robinow syndrome autosomal_dominant_robinow_syndrome Autosomal Dominant Robinow Syndrome WNT5A chronic eosinophilic leukemia chronic_eosinophilic_leukemia Chronic Eosinophilic Leukemia FIP1L1 juvenile amyotrophic lateral sclerosis juvenile_amyotrophic_lateral_sclerosis Juvenile Amyotrophic Lateral Sclerosis SIGMAR1 hereditary mixed polyposis syndrome hereditary_mixed_polyposis_syndrome Hereditary Mixed Polyposis Syndrome BMPR1A neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX26 3-methylcrotonyl-coa carboxylase deficiency 3_methylcrotonyl_coa_carboxylase_deficiency 3-Methylcrotonyl-Coa Carboxylase Deficiency MCCC2 DOID:0050710 generalized resistance to thyroid hormone generalized_resistance_to_thyroid_hormone Generalized Resistance to Thyroid Hormone THRB antenatal bartter syndrome antenatal_bartter_syndrome Antenatal Bartter Syndrome MAGED2 enchondromatosis, multiple, ollier type enchondromatosis_multiple_ollier_type Enchondromatosis, Multiple, Ollier Type PTH1R DOID:4624 cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome GJA8 familial glucocorticoid deficiency familial_glucocorticoid_deficiency Familial Glucocorticoid Deficiency MRAP atrial standstill atrial_standstill Atrial Standstill NPPA walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome B4GAT1 DOID:0050560 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly SHH renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary FHIT DOID:4450 exfoliative ichthyosis exfoliative_ichthyosis Exfoliative Ichthyosis SERPINB8 hereditary mixed polyposis syndrome hereditary_mixed_polyposis_syndrome Hereditary Mixed Polyposis Syndrome GREM1 refractory anemia refractory_anemia Refractory Anemia TET2 endometrial stromal sarcoma endometrial_stromal_sarcoma Endometrial Stromal Sarcoma JAZF1 DOID:4226 mild hyperphenylalaninemia mild_hyperphenylalaninemia Mild Hyperphenylalaninemia PAH lymphomatoid papulosis lymphomatoid_papulosis Lymphomatoid Papulosis NPM1 infantile nephronophthisis infantile_nephronophthisis Infantile Nephronophthisis CEP83 peters-plus syndrome peters_plus_syndrome_2 Peters-Plus Syndrome FOXC1 DOID:0080201 hennekam syndrome hennekam_syndrome Hennekam Syndrome CCBE1 DOID:0060366 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a RAD51 DOID:13636 nut midline carcinoma nut_midline_carcinoma Nut Midline Carcinoma BRD4 DOID:0060463 tukel syndrome tukel_syndrome Tukel Syndrome TUBB3 DOID:0080143 yunis-varon syndrome yunis_varon_syndrome_2 Yunis-Varon Syndrome VAC14 DOID:0060589 congenital mesoblastic nephroma congenital_mesoblastic_nephroma Congenital Mesoblastic Nephroma NTRK3 DOID:4773 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction PRDM16 DOID:0060480 neural tube defects neural_tube_defects Neural Tube Defects CELSR1 DOID:0080074 endometrial stromal sarcoma endometrial_stromal_sarcoma Endometrial Stromal Sarcoma YWHAE DOID:4226 oculoectodermal syndrome oculoectodermal_syndrome Oculoectodermal Syndrome KRAS benign familial infantile epilepsy benign_familial_infantile_epilepsy Benign Familial Infantile Epilepsy SCN2A DOID:0060169 tooth agenesis tooth_agenesis Tooth Agenesis EDARADD DOID:0050591 benign familial neonatal epilepsy benign_familial_neonatal_epilepsy Benign Familial Neonatal Epilepsy KCNQ2 DOID:14777 microphthalmia microphthalmia Microphthalmia PRSS56 DOID:10629 intestinal pseudo-obstruction intestinal_pseudo_obstruction Intestinal Pseudo-Obstruction ACTG2 DOID:3878 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome alport_syndrome_intellectual_disability_midface_hypoplasia_elliptocytosis_syndrome Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome AMMECR1 familial progressive cardiac conduction defect familial_progressive_cardiac_conduction_defect Familial Progressive Cardiac Conduction Defect SCN5A hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PIGV hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PIGO idiopathic ventricular fibrillation, non brugada type idiopathic_ventricular_fibrillation_non_brugada_type Idiopathic Ventricular Fibrillation, Non Brugada Type SCN5A lrp5-related primary osteoporosis lrp5_related_primary_osteoporosis Lrp5-Related Primary Osteoporosis LRP5 methemoglobinemia, beta-globin type methemoglobinemia_beta_globin_type_2 Methemoglobinemia, Beta-Globin Type HBB myopathy, centronuclear, 2 myopathy_centronuclear_2 Myopathy, Centronuclear, 2 TTN polyvalvular heart disease syndrome polyvalvular_heart_disease_syndrome Polyvalvular Heart Disease Syndrome TAB2 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability RLIM autosomal recessive hypophosphatemic rickets autosomal_recessive_hypophosphatemic_rickets Autosomal Recessive Hypophosphatemic Rickets ENPP1 DOID:0050949 hemimegalencephaly hemimegalencephaly Hemimegalencephaly PIK3CA walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome RXYLT1 DOID:0050560 pseudoxanthoma elasticum pseudoxanthoma_elasticum Pseudoxanthoma Elasticum ENPP1 DOID:2738 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome B3GALNT2 DOID:0050560 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid KMT2A DOID:9119 hennekam syndrome hennekam_syndrome Hennekam Syndrome FAT4 DOID:0060366 chronic mucocutaneous candidiasis chronic_mucocutaneous_candidiasis Chronic Mucocutaneous Candidiasis IL17F DOID:2058 catecholaminergic polymorphic ventricular tachycardia catecholaminergic_polymorphic_ventricular_tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia CALM1 DOID:0060674 ellis-van creveld syndrome ellis_van_creveld_syndrome Ellis-Van Creveld Syndrome DYNC2LI1 DOID:12714 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita USB1 DOID:2729 juvenile glaucoma juvenile_glaucoma Juvenile Glaucoma MYOC DOID:1068 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young ABCC8 DOID:0050524 autosomal recessive hypophosphatemic rickets autosomal_recessive_hypophosphatemic_rickets Autosomal Recessive Hypophosphatemic Rickets DMP1 DOID:0050949 visceral heterotaxy visceral_heterotaxy Visceral Heterotaxy PKD1L1 DOID:0050545 jervell and lange-nielsen syndrome 1 jervell_and_lange_nielsen_syndrome_1 Jervell and Lange-Nielsen Syndrome 1 KCNE1 DOID:2842 chronic mucocutaneous candidiasis chronic_mucocutaneous_candidiasis Chronic Mucocutaneous Candidiasis IL17RA DOID:2058 fuchs' endothelial dystrophy fuchs_endothelial_dystrophy Fuchs' Endothelial Dystrophy TCF4 DOID:11555 congenital intrinsic factor deficiency congenital_intrinsic_factor_deficiency Congenital Intrinsic Factor Deficiency GIF DOID:0050734 childhood absence epilepsy childhood_absence_epilepsy Childhood Absence Epilepsy SLC2A1 DOID:1825 benign familial infantile epilepsy benign_familial_infantile_epilepsy Benign Familial Infantile Epilepsy SCN8A DOID:0060169 dowling-degos disease dowling_degos_disease Dowling-Degos Disease PSENEN DOID:0060256 chronic mucocutaneous candidiasis chronic_mucocutaneous_candidiasis Chronic Mucocutaneous Candidiasis CLEC7A DOID:2058 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor RANBP2 DOID:0050905 atypical teratoid rhabdoid tumor atypical_teratoid_rhabdoid_tumor Atypical Teratoid Rhabdoid Tumor SMARCA4 DOID:2129 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor TPM3 DOID:0050905 polycystic liver disease polycystic_liver_disease Polycystic Liver Disease LRP5 DOID:0050770 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome NUP107 DOID:0060364 primary cutaneous amyloidosis primary_cutaneous_amyloidosis Primary Cutaneous Amyloidosis OSMR DOID:0050639 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a ERCC4 DOID:13636 congenital ichthyosiform erythroderma congenital_ichthyosiform_erythroderma Congenital Ichthyosiform Erythroderma CERS3 DOID:1699 visceral myopathy visceral_myopathy Visceral Myopathy MYH11 DOID:0060610 west syndrome west_syndrome West Syndrome SCN2A DOID:0050562 congenital ichthyosiform erythroderma congenital_ichthyosiform_erythroderma Congenital Ichthyosiform Erythroderma SDR9C7 DOID:1699 seckel syndrome seckel_syndrome Seckel Syndrome PLK4 DOID:0050569 rett syndrome rett_syndrome Rett Syndrome NTNG1 DOID:1206 ovarian small cell carcinoma ovarian_small_cell_carcinoma Ovarian Small Cell Carcinoma SMARCA4 DOID:6179 visceral heterotaxy visceral_heterotaxy Visceral Heterotaxy MMP21 DOID:0050545 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation GATA5 DOID:0050650 congenital ptosis congenital_ptosis Congenital Ptosis COL25A1 DOID:0060261 west syndrome west_syndrome West Syndrome SPTAN1 DOID:0050562 mitochondrial complex ii deficiency mitochondrial_complex_ii_deficiency Mitochondrial Complex Ii Deficiency SDHB DOID:0060537 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome COL4A1 DOID:0050560 chronic mucocutaneous candidiasis chronic_mucocutaneous_candidiasis Chronic Mucocutaneous Candidiasis IL17RC DOID:2058 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation GATA6 DOID:0050650 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFS2 DOID:3652 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation NPPA DOID:0050650 meningioma, familial meningioma_familial Meningioma, Familial SMARCB1 DOID:4586 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation SCN4B DOID:0050650 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation PITX2 DOID:0050650 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome IFT172 DOID:1935 omenn syndrome omenn_syndrome Omenn Syndrome RMRP DOID:0060010 seckel syndrome seckel_syndrome Seckel Syndrome ATRIP DOID:0050569 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation NKX2-5 DOID:0050650 seizures, benign familial infantile, 3 seizures_benign_familial_infantile_3 Seizures, Benign Familial Infantile, 3 KCNQ2 atypical chronic myeloid leukemia atypical_chronic_myeloid_leukemia Atypical Chronic Myeloid Leukemia CSF3R DOID:8747 congenital ichthyosiform erythroderma congenital_ichthyosiform_erythroderma Congenital Ichthyosiform Erythroderma LIPN DOID:1699 ellis-van creveld syndrome ellis_van_creveld_syndrome Ellis-Van Creveld Syndrome GLI1 DOID:12714 osteogenesis imperfecta, type ii osteogenesis_imperfecta_type_ii Osteogenesis Imperfecta, Type Ii P3H1 DOID:0110341 osteogenesis imperfecta, type ii osteogenesis_imperfecta_type_ii Osteogenesis Imperfecta, Type Ii CRTAP DOID:0110341 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia TAL1 omenn syndrome omenn_syndrome Omenn Syndrome IL7R DOID:0060010 classic phenylketonuria classic_phenylketonuria Classic Phenylketonuria PAH hemochromatosis type 2 hemochromatosis_type_2 Hemochromatosis Type 2 HAMP DOID:0111034 west syndrome west_syndrome West Syndrome PLCB1 DOID:0050562 omenn syndrome omenn_syndrome Omenn Syndrome ADA DOID:0060010 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RIMS1 DOID:10584 west syndrome west_syndrome West Syndrome GUF1 DOID:0050562 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia STIL primary cutaneous amyloidosis primary_cutaneous_amyloidosis Primary Cutaneous Amyloidosis IL31RA DOID:0050639 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) acute_myeloid_leukemia_with_abnormal_bone_marrow_eosinophils_inv16p13q22_or_t1616p13q22 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) CBFB precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia TLX3 ehlers-danlos syndrome, hypermobility type ehlers_danlos_syndrome_hypermobility_type Ehlers-Danlos Syndrome, Hypermobility Type TNXB DOID:14757 west syndrome west_syndrome West Syndrome ST3GAL3 DOID:0050562 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma EGFR DOID:3074 lung cancer lung_cancer Lung Cancer MIR137 DOID:3908 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation GATA4 DOID:0050650 familial calcium pyrophosphate deposition familial_calcium_pyrophosphate_deposition Familial Calcium Pyrophosphate Deposition ANKH acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia STAT5B DOID:0060318 moebius syndrome moebius_syndrome Moebius Syndrome PLXND1 DOID:13501 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia TRD salivary gland adenoma, pleomorphic salivary_gland_adenoma_pleomorphic Salivary Gland Adenoma, Pleomorphic HMGA2 peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX5 DOID:0050444 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia PICALM lung cancer lung_cancer Lung Cancer MIR133B DOID:3908 meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 ORC6 DOID:0060306 fetal hemoglobin quantitative trait locus 1 fetal_hemoglobin_quantitative_trait_locus_1 Fetal Hemoglobin Quantitative Trait Locus 1 HBD cranioectodermal dysplasia 1 cranioectodermal_dysplasia_1 Cranioectodermal Dysplasia 1 WDR35 DOID:0050577 myeloproliferative syndrome, transient myeloproliferative_syndrome_transient Myeloproliferative Syndrome, Transient GATA1 DOID:0060888 meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 ORC4 DOID:0060306 hypothyroidism, congenital, nongoitrous, 2 hypothyroidism_congenital_nongoitrous_2 Hypothyroidism, Congenital, Nongoitrous, 2 TSHR alk-positive anaplastic large cell lymphoma alk_positive_anaplastic_large_cell_lymphoma Alk-Positive Anaplastic Large Cell Lymphoma ALK joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 ARL13B DOID:0110980 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly PTCH1 intermediate maple syrup urine disease intermediate_maple_syrup_urine_disease Intermediate Maple Syrup Urine Disease DBT pseudosarcomatous fibromatosis pseudosarcomatous_fibromatosis Pseudosarcomatous Fibromatosis USP6 DOID:7327 keratosis follicularis spinulosa decalvans keratosis_follicularis_spinulosa_decalvans Keratosis Follicularis Spinulosa Decalvans LRP1 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia CDKN2A severe hemophilia a severe_hemophilia_a Severe Hemophilia a F8 autosomal recessive cutis laxa type i autosomal_recessive_cutis_laxa_type_i Autosomal Recessive Cutis Laxa Type I FBLN5 DOID:0070144 t-cell immunodeficiency with epidermodysplasia verruciformis t_cell_immunodeficiency_with_epidermodysplasia_verruciformis T-Cell Immunodeficiency with Epidermodysplasia Verruciformis RHOH smith-mccort dysplasia 1 smith_mccort_dysplasia_1 Smith-Mccort Dysplasia 1 RAB33B DOID:0060247 cranioectodermal dysplasia 1 cranioectodermal_dysplasia_1 Cranioectodermal Dysplasia 1 WDR19 DOID:0050577 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 KMT2A monostotic fibrous dysplasia monostotic_fibrous_dysplasia Monostotic Fibrous Dysplasia GNAS precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia TLX1 treacher collins syndrome 1 treacher_collins_syndrome_1 Treacher Collins Syndrome 1 POLR1D DOID:2908 fuchs' endothelial dystrophy fuchs_endothelial_dystrophy Fuchs' Endothelial Dystrophy SLC4A11 DOID:11555 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques palmoplantar_keratoderma_mutilating_with_periorificial_keratotic_plaques Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques MBTPS2 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 B9D1 DOID:0070115 cerulean cataract cerulean_cataract Cerulean Cataract CRYGD diarrhea 2, with microvillus atrophy diarrhea_2_with_microvillus_atrophy Diarrhea 2, with Microvillus Atrophy STX3 DOID:0060775 striate palmoplantar keratoderma striate_palmoplantar_keratoderma Striate Palmoplantar Keratoderma DSG1 urofacial syndrome 1 urofacial_syndrome_1 Urofacial Syndrome 1 LRIG2 DOID:0050816 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 TMEM216 DOID:0070115 sodium channelopathy-related small fiber neuropathy sodium_channelopathy_related_small_fiber_neuropathy Sodium Channelopathy-Related Small Fiber Neuropathy SCN10A cantu syndrome cantu_syndrome Cantu Syndrome KCNJ8 DOID:0060569 chondrosarcoma, extraskeletal myxoid chondrosarcoma_extraskeletal_myxoid Chondrosarcoma, Extraskeletal Myxoid EWSR1 DOID:6496 refractory anemia with excess blasts refractory_anemia_with_excess_blasts Refractory Anemia with Excess Blasts TET2 striate palmoplantar keratoderma striate_palmoplantar_keratoderma Striate Palmoplantar Keratoderma DSP homozygous familial hypercholesterolemia homozygous_familial_hypercholesterolemia Homozygous Familial Hypercholesterolemia LDLR isolated ectopia lentis isolated_ectopia_lentis Isolated Ectopia Lentis ADAMTSL4 DOID:0111148 meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 CDT1 DOID:0060306 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly GLI2 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability PRSS12 DOID:0060308 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 B9D2 DOID:0070115 autosomal dominant macrothrombocytopenia autosomal_dominant_macrothrombocytopenia Autosomal Dominant Macrothrombocytopenia TUBB1 epidermolysis bullosa simplex with mottled pigmentation epidermolysis_bullosa_simplex_with_mottled_pigmentation Epidermolysis Bullosa Simplex with Mottled Pigmentation KRT14 familial chilblain lupus familial_chilblain_lupus Familial Chilblain Lupus TREX1 benign paroxysmal torticollis of infancy benign_paroxysmal_torticollis_of_infancy Benign Paroxysmal Torticollis of Infancy CACNA1A heritable pulmonary arterial hypertension heritable_pulmonary_arterial_hypertension Heritable Pulmonary Arterial Hypertension BMPR2 fibrolamellar carcinoma fibrolamellar_carcinoma Fibrolamellar Carcinoma PRKACA DOID:5015 chronic eosinophilic leukemia chronic_eosinophilic_leukemia Chronic Eosinophilic Leukemia PDGFRA coffin-siris syndrome 1 coffin_siris_syndrome_1 Coffin-Siris Syndrome 1 SMARCE1 DOID:1925 atypical pantothenate kinase-associated neurodegeneration atypical_pantothenate_kinase_associated_neurodegeneration_2 Atypical Pantothenate Kinase-Associated Neurodegeneration PANK2 musculocontractural ehlers-danlos syndrome musculocontractural_ehlers_danlos_syndrome Musculocontractural Ehlers-Danlos Syndrome DSE distal hereditary motor neuropathy, type ii distal_hereditary_motor_neuropathy_type_ii Distal Hereditary Motor Neuropathy, Type Ii HSPB8 van der woude syndrome 1 van_der_woude_syndrome_1 Van Der Woude Syndrome 1 GRHL3 DOID:0060239 pituitary stalk interruption syndrome pituitary_stalk_interruption_syndrome Pituitary Stalk Interruption Syndrome GPR161 neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX2 neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX12 neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX13 striate palmoplantar keratoderma striate_palmoplantar_keratoderma Striate Palmoplantar Keratoderma KRT1 acute myeloid leukemia with t(8;16)(p11;p13) translocation acute_myeloid_leukemia_with_t816p11p13_translocation Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation CREBBP acute myeloid leukemia with t(8;16)(p11;p13) translocation acute_myeloid_leukemia_with_t816p11p13_translocation Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation KAT6A autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability CRBN DOID:0060308 juvenile amyotrophic lateral sclerosis juvenile_amyotrophic_lateral_sclerosis Juvenile Amyotrophic Lateral Sclerosis ALS2 epileptic encephalopathy, early infantile, 6 epileptic_encephalopathy_early_infantile_6 Epileptic Encephalopathy, Early Infantile, 6 PCDH19 DOID:0060171 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia STRA6 acrofacial dysostosis syndrome of rodriguez acrofacial_dysostosis_syndrome_of_rodriguez Acrofacial Dysostosis Syndrome of Rodriguez SF3B4 DOID:0060383 meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 CDC6 DOID:0060306 white sponge nevus 1 white_sponge_nevus_1 White Sponge Nevus 1 KRT13 DOID:0050448 renal agenesis, bilateral renal_agenesis_bilateral Renal Agenesis, Bilateral ITGA8 renal agenesis, bilateral renal_agenesis_bilateral Renal Agenesis, Bilateral FGF20 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 ETV6 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease B3GALNT2 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease POMT2 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease GMPPB nik deficiency nik_deficiency Nik Deficiency MAP3K14 lung cancer lung_cancer Lung Cancer MIR107 DOID:3908 hypoplastic amelogenesis imperfecta hypoplastic_amelogenesis_imperfecta Hypoplastic Amelogenesis Imperfecta ACP4 acral self-healing collodion baby acral_self_healing_collodion_baby Acral Self-Healing Collodion Baby TGM1 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability TUSC3 DOID:0060308 brain dopamine-serotonin vesicular transport disease brain_dopamine_serotonin_vesicular_transport_disease Brain Dopamine-Serotonin Vesicular Transport Disease SLC18A2 epidermolysis bullosa simplex superficialis epidermolysis_bullosa_simplex_superficialis Epidermolysis Bullosa Simplex Superficialis COL7A1 cowden disease cowden_disease Cowden Disease KLLN DOID:6457 cranioectodermal dysplasia 1 cranioectodermal_dysplasia_1 Cranioectodermal Dysplasia 1 IFT52 DOID:0050577 high bone mass osteogenesis imperfecta high_bone_mass_osteogenesis_imperfecta High Bone Mass Osteogenesis Imperfecta COL1A2 isolated split hand-split foot malformation isolated_split_hand_split_foot_malformation Isolated Split Hand-Split Foot Malformation TP63 neutrophil-specific granule deficiency neutrophil_specific_granule_deficiency Neutrophil-Specific Granule Deficiency CEBPE semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly FGF8 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly DISP1 gordon holmes syndrome gordon_holmes_syndrome Gordon Holmes Syndrome PNPLA6 autosomal recessive cutis laxa type i autosomal_recessive_cutis_laxa_type_i Autosomal Recessive Cutis Laxa Type I EFEMP2 DOID:0070144 hereditary combined deficiency of vitamin k-dependent clotting factors hereditary_combined_deficiency_of_vitamin_k_dependent_clotting_factors Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors VKORC1 blue rubber bleb nevus blue_rubber_bleb_nevus Blue Rubber Bleb Nevus TEK hereditary pulmonary alveolar proteinosis hereditary_pulmonary_alveolar_proteinosis Hereditary Pulmonary Alveolar Proteinosis CSF2RB pontine autosomal dominant microangiopathy with leukoencephalopathy pontine_autosomal_dominant_microangiopathy_with_leukoencephalopathy Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy COL4A1 idiopathic infantile hypercalcemia idiopathic_infantile_hypercalcemia Idiopathic Infantile Hypercalcemia CYP24A1 primary mediastinal large b-cell lymphoma primary_mediastinal_large_b_cell_lymphoma Primary Mediastinal Large B-Cell Lymphoma BCL6 hypocomplementemic urticarial vasculitis hypocomplementemic_urticarial_vasculitis Hypocomplementemic Urticarial Vasculitis DNASE1L3 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism GNRHR normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism TACR3 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism KISS1R normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism PROK2 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism TAC3 pontocerebellar hypoplasia type 1 pontocerebellar_hypoplasia_type_1 Pontocerebellar Hypoplasia Type 1 EXOSC3 autosomal dominant robinow syndrome autosomal_dominant_robinow_syndrome Autosomal Dominant Robinow Syndrome DVL1 idiopathic central precocious puberty idiopathic_central_precocious_puberty Idiopathic Central Precocious Puberty MKRN3 neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX16 neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX19 neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX14 neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX3 pituitary stalk interruption syndrome pituitary_stalk_interruption_syndrome Pituitary Stalk Interruption Syndrome HESX1 pituitary stalk interruption syndrome pituitary_stalk_interruption_syndrome Pituitary Stalk Interruption Syndrome LHX4 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa IFT172 DOID:10584 chronic neutrophilic leukemia chronic_neutrophilic_leukemia Chronic Neutrophilic Leukemia CSF3R DOID:0080187 early-onset, autosomal dominant alzheimer disease early_onset_autosomal_dominant_alzheimer_disease_2 Early-Onset, Autosomal Dominant Alzheimer Disease PSEN1 early-onset, autosomal dominant alzheimer disease early_onset_autosomal_dominant_alzheimer_disease_2 Early-Onset, Autosomal Dominant Alzheimer Disease PSEN2 infantile krabbe disease infantile_krabbe_disease Infantile Krabbe Disease GALC peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX2 DOID:0050444 intermediate maple syrup urine disease intermediate_maple_syrup_urine_disease Intermediate Maple Syrup Urine Disease BCKDHA syndactyly, type iv syndactyly_type_iv Syndactyly, Type Iv SHH acrogeria, gottron type acrogeria_gottron_type Acrogeria, Gottron Type COL3A1 moderately severe hemophilia a moderately_severe_hemophilia_a Moderately Severe Hemophilia a F8 geroderma osteodysplasticum geroderma_osteodysplasticum Geroderma Osteodysplasticum PYCR1 short-rib thoracic dysplasia 3 with or without polydactyly short_rib_thoracic_dysplasia_3_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly IFT80 DOID:0110087 ferro-cerebro-cutaneous syndrome ferro_cerebro_cutaneous_syndrome Ferro-Cerebro-Cutaneous Syndrome PIGA hermansky-pudlak syndrome with pulmonary fibrosis hermansky_pudlak_syndrome_with_pulmonary_fibrosis Hermansky-Pudlak Syndrome with Pulmonary Fibrosis HPS1 athyreosis athyreosis Athyreosis PAX8 mild phenylketonuria mild_phenylketonuria Mild Phenylketonuria PAH porphyria, congenital erythropoietic porphyria_congenital_erythropoietic Porphyria, Congenital Erythropoietic GATA1 distal hereditary motor neuropathy, type v distal_hereditary_motor_neuropathy_type_v_2 Distal Hereditary Motor Neuropathy, Type V REEP1 senior-loken syndrome 1 senior_loken_syndrome_1 Senior-Loken Syndrome 1 IQCB1 DOID:0050576 cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYBB1 diabetes mellitus, transient neonatal, 1 diabetes_mellitus_transient_neonatal_1 Diabetes Mellitus, Transient Neonatal, 1 KCNJ11 DOID:0060334 asplenia, isolated congenital asplenia_isolated_congenital Asplenia, Isolated Congenital NKX2-5 hereditary sensory and autonomic neuropathy type 1 hereditary_sensory_and_autonomic_neuropathy_type_1 Hereditary Sensory and Autonomic Neuropathy Type 1 SPTLC2 DOID:0070162 hypoplastic amelogenesis imperfecta hypoplastic_amelogenesis_imperfecta Hypoplastic Amelogenesis Imperfecta ENAM lennox-gastaut syndrome lennox_gastaut_syndrome Lennox-Gastaut Syndrome CHD2 DOID:0050561 vacterl with hydrocephalus vacterl_with_hydrocephalus Vacterl with Hydrocephalus FANCB spondylocarpotarsal synostosis syndrome spondylocarpotarsal_synostosis_syndrome Spondylocarpotarsal Synostosis Syndrome MYH3 DOID:0090116 familial chilblain lupus familial_chilblain_lupus Familial Chilblain Lupus SAMHD1 myopathy, tubular aggregate, 1 myopathy_tubular_aggregate_1 Myopathy, Tubular Aggregate, 1 ORAI1 DOID:0080089 cranioectodermal dysplasia 1 cranioectodermal_dysplasia_1 Cranioectodermal Dysplasia 1 IFT43 DOID:0050577 coffin-siris syndrome 1 coffin_siris_syndrome_1 Coffin-Siris Syndrome 1 SMARCA4 DOID:1925 alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly DLL1 atypical werner syndrome atypical_werner_syndrome Atypical Werner Syndrome LMNA auriculo-condylar syndrome auriculo_condylar_syndrome Auriculo-Condylar Syndrome PLCB4 shwachman-diamond syndrome 1 shwachman_diamond_syndrome_1 Shwachman-Diamond Syndrome 1 EFL1 DOID:0060479 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability TRAPPC9 DOID:0060308 familial vesicoureteral reflux familial_vesicoureteral_reflux Familial Vesicoureteral Reflux ROBO2 hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex LIPH epileptic encephalopathy, early infantile, 6 epileptic_encephalopathy_early_infantile_6 Epileptic Encephalopathy, Early Infantile, 6 SCN2A DOID:0060171 high bone mass osteogenesis imperfecta high_bone_mass_osteogenesis_imperfecta High Bone Mass Osteogenesis Imperfecta COL1A1 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly FGFR1 severe early-childhood-onset retinal dystrophy severe_early_childhood_onset_retinal_dystrophy Severe Early-Childhood-Onset Retinal Dystrophy RPE65 athyreosis athyreosis Athyreosis TSHR microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly DISP1 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 TARDBP DOID:0060213 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy SCN1A malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy TBC1D24 gastric adenocarcinoma and proximal polyposis of the stomach gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach Gastric Adenocarcinoma and Proximal Polyposis of the Stomach APC alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly SHH hennekam syndrome hennekam_syndrome Hennekam Syndrome ADAMTS3 DOID:0060366 severe congenital nemaline myopathy severe_congenital_nemaline_myopathy Severe Congenital Nemaline Myopathy NEB autosomal recessive stickler syndrome autosomal_recessive_stickler_syndrome Autosomal Recessive Stickler Syndrome COL9A1 autosomal recessive stickler syndrome autosomal_recessive_stickler_syndrome Autosomal Recessive Stickler Syndrome COL9A2 autosomal recessive stickler syndrome autosomal_recessive_stickler_syndrome Autosomal Recessive Stickler Syndrome COL9A3 tibial hemimelia tibial_hemimelia Tibial Hemimelia GLI3 autosomal dominant robinow syndrome autosomal_dominant_robinow_syndrome Autosomal Dominant Robinow Syndrome DVL3 pontocerebellar hypoplasia type 1 pontocerebellar_hypoplasia_type_1 Pontocerebellar Hypoplasia Type 1 TSEN54 digitotalar dysmorphism digitotalar_dysmorphism Digitotalar Dysmorphism TNNT3 familial bicuspid aortic valve familial_bicuspid_aortic_valve Familial Bicuspid Aortic Valve NOTCH1 pituitary stalk interruption syndrome pituitary_stalk_interruption_syndrome Pituitary Stalk Interruption Syndrome CDON pituitary stalk interruption syndrome pituitary_stalk_interruption_syndrome Pituitary Stalk Interruption Syndrome ROBO1 alk-positive large b-cell lymphoma alk_positive_large_b_cell_lymphoma Alk-Positive Large B-Cell Lymphoma ALK early-onset, autosomal dominant alzheimer disease early_onset_autosomal_dominant_alzheimer_disease_2 Early-Onset, Autosomal Dominant Alzheimer Disease APP semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly TGIF1 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly SIX3 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly ZIC2 stormorken syndrome stormorken_syndrome Stormorken Syndrome ORAI1 DOID:0060354 autosomal recessive malignant osteopetrosis autosomal_recessive_malignant_osteopetrosis Autosomal Recessive Malignant Osteopetrosis TCIRG1 carpenter syndrome 1 carpenter_syndrome_1 Carpenter Syndrome 1 MEGF8 DOID:0060234 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly CDON senior-loken syndrome 1 senior_loken_syndrome_1 Senior-Loken Syndrome 1 CEP290 DOID:0050576 chiari malformation type i chiari_malformation_type_i Chiari Malformation Type I DKK1 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ARHGEF18 DOID:10584 gray platelet syndrome gray_platelet_syndrome Gray Platelet Syndrome GFI1B DOID:0111044 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii FKBP10 DOID:0110339 intermediate dend syndrome intermediate_dend_syndrome Intermediate Dend Syndrome KCNJ11 homozygous familial hypercholesterolemia homozygous_familial_hypercholesterolemia Homozygous Familial Hypercholesterolemia PCSK9 homozygous familial hypercholesterolemia homozygous_familial_hypercholesterolemia Homozygous Familial Hypercholesterolemia APOB cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYAA cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome MAF colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia TENM3 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia SHH dentin dysplasia, type i dentin_dysplasia_type_i Dentin Dysplasia, Type I SSUH2 hereditary central diabetes insipidus hereditary_central_diabetes_insipidus Hereditary Central Diabetes Insipidus AVP intravascular large b-cell lymphoma intravascular_large_b_cell_lymphoma Intravascular Large B-Cell Lymphoma BCL6 juvenile amyotrophic lateral sclerosis juvenile_amyotrophic_lateral_sclerosis Juvenile Amyotrophic Lateral Sclerosis FUS juvenile amyotrophic lateral sclerosis juvenile_amyotrophic_lateral_sclerosis Juvenile Amyotrophic Lateral Sclerosis SPG11 zebra body myopathy zebra_body_myopathy Zebra Body Myopathy ACTA1 familial chilblain lupus familial_chilblain_lupus Familial Chilblain Lupus TMEM173 chondromyxoid fibroma chondromyxoid_fibroma Chondromyxoid Fibroma GRM1 erythrokeratodermia-cardiomyopathy syndrome erythrokeratodermia_cardiomyopathy_syndrome Erythrokeratodermia-Cardiomyopathy Syndrome DSP idiopathic infantile hypercalcemia idiopathic_infantile_hypercalcemia Idiopathic Infantile Hypercalcemia SLC34A1 extraskeletal ewing sarcoma extraskeletal_ewing_sarcoma Extraskeletal Ewing Sarcoma EWSR1 extraskeletal ewing sarcoma extraskeletal_ewing_sarcoma Extraskeletal Ewing Sarcoma SMARCA5 autosomal dominant macrothrombocytopenia autosomal_dominant_macrothrombocytopenia Autosomal Dominant Macrothrombocytopenia ACTN1 autosomal dominant macrothrombocytopenia autosomal_dominant_macrothrombocytopenia Autosomal Dominant Macrothrombocytopenia GP1BB autosomal dominant macrothrombocytopenia autosomal_dominant_macrothrombocytopenia Autosomal Dominant Macrothrombocytopenia ITGB3 cerulean cataract cerulean_cataract Cerulean Cataract MIP choroidal dystrophy, central areolar, 1 choroidal_dystrophy_central_areolar_1_2 Choroidal Dystrophy, Central Areolar, 1 PRPH2 DOID:980 hyperalphalipoproteinemia 1 hyperalphalipoproteinemia_1 Hyperalphalipoproteinemia 1 APOC3 diabetes mellitus, transient neonatal, 1 diabetes_mellitus_transient_neonatal_1 Diabetes Mellitus, Transient Neonatal, 1 ABCC8 DOID:0060334 geleophysic dysplasia geleophysic_dysplasia Geleophysic Dysplasia LTBP3 epithelioid hemangioendothelioma epithelioid_hemangioendothelioma Epithelioid Hemangioendothelioma YAP1 kid syndrome kid_syndrome Kid Syndrome GJB6 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 PBX1 sickle beta thalassemia sickle_beta_thalassemia Sickle Beta Thalassemia HBB acyl-coa dehydrogenase, very long-chain, deficiency of acyl_coa_dehydrogenase_very_long_chain_deficiency_of Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of ACADL DOID:0080155 hemihyperplasia, isolated hemihyperplasia_isolated Hemihyperplasia, Isolated H19 familial glucocorticoid deficiency familial_glucocorticoid_deficiency Familial Glucocorticoid Deficiency NNT dysosteosclerosis dysosteosclerosis Dysosteosclerosis SLC29A3 dysspondyloenchondromatosis dysspondyloenchondromatosis Dysspondyloenchondromatosis COL2A1 familial colorectal cancer type x familial_colorectal_cancer_type_x Familial Colorectal Cancer Type X SEMA4A fryns syndrome fryns_syndrome Fryns Syndrome PIGN 46 xy gonadal dysgenesis 46_xy_gonadal_dysgenesis 46 Xy Gonadal Dysgenesis NR5A1 DOID:14448 juvenile nephronophthisis juvenile_nephronophthisis Juvenile Nephronophthisis NPHP4 mohr syndrome mohr_syndrome Mohr Syndrome NEK1 hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex LPAR6 hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex RPL21 hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex SNRPE choroidal dystrophy, central areolar, 1 choroidal_dystrophy_central_areolar_1_2 Choroidal Dystrophy, Central Areolar, 1 GUCA1A DOID:980 homozygous familial hypercholesterolemia homozygous_familial_hypercholesterolemia Homozygous Familial Hypercholesterolemia LDLRAP1 angiocentric glioma angiocentric_glioma Angiocentric Glioma QKI angiocentric glioma angiocentric_glioma Angiocentric Glioma MYB familial porencephaly familial_porencephaly Familial Porencephaly COL4A2 fuchs' endothelial dystrophy fuchs_endothelial_dystrophy Fuchs' Endothelial Dystrophy AGBL1 DOID:11555 hemangiopericytoma, malignant hemangiopericytoma_malignant Hemangiopericytoma, Malignant STAT6 DOID:264 non-hereditary retinoblastoma non_hereditary_retinoblastoma Non-Hereditary Retinoblastoma RB1 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa KIZ DOID:10584 d-2-hydroxyglutaric aciduria 1 d_2_hydroxyglutaric_aciduria_1 D-2-Hydroxyglutaric Aciduria 1 IDH2 DOID:0050575 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 SCN2A DOID:0050709 coffin-siris syndrome 1 coffin_siris_syndrome_1 Coffin-Siris Syndrome 1 SMARCB1 DOID:1925 multiple enchondromatosis, maffucci type multiple_enchondromatosis_maffucci_type Multiple Enchondromatosis, Maffucci Type IDH2 DOID:0060221 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 ANK2 DOID:0110644 hydrolethalus syndrome 1 hydrolethalus_syndrome_1 Hydrolethalus Syndrome 1 KIF7 DOID:0050779 lymphoma, mucosa-associated lymphoid type lymphoma_mucosa_associated_lymphoid_type Lymphoma, Mucosa-Associated Lymphoid Type FOXP1 DOID:0050909 multiple enchondromatosis, maffucci type multiple_enchondromatosis_maffucci_type Multiple Enchondromatosis, Maffucci Type IDH1 DOID:0060221 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 TMEM107 DOID:0070115 peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX16 DOID:0050444 senior-loken syndrome 1 senior_loken_syndrome_1 Senior-Loken Syndrome 1 WDR19 DOID:0050576 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 ARX DOID:0050709 microcephaly, autosomal dominant microcephaly_autosomal_dominant Microcephaly, Autosomal Dominant DPP6 DOID:14725 short-rib thoracic dysplasia 3 with or without polydactyly short_rib_thoracic_dysplasia_3_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly WDR35 DOID:0110087 coffin-siris syndrome 1 coffin_siris_syndrome_1 Coffin-Siris Syndrome 1 ARID1A DOID:1925 meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 CDC45 DOID:0060306 familial glucocorticoid deficiency familial_glucocorticoid_deficiency Familial Glucocorticoid Deficiency TXNRD2 sporadic pheochromocytoma sporadic_pheochromocytoma Sporadic Pheochromocytoma EPAS1 glycosylphosphatidylinositol deficiency glycosylphosphatidylinositol_deficiency Glycosylphosphatidylinositol Deficiency PIGW leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 CDKN2A hemimegalencephaly hemimegalencephaly Hemimegalencephaly AKT3 pierre robin syndrome pierre_robin_syndrome Pierre Robin Syndrome SOX9 cap myopathy cap_myopathy Cap Myopathy MYPN peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX26 DOID:0050444 chondrosarcoma, extraskeletal myxoid chondrosarcoma_extraskeletal_myxoid Chondrosarcoma, Extraskeletal Myxoid TCF12 DOID:6496 epileptic encephalopathy, early infantile, 6 epileptic_encephalopathy_early_infantile_6 Epileptic Encephalopathy, Early Infantile, 6 GABRA1 DOID:0060171 bethlem myopathy 1 bethlem_myopathy_1 Bethlem Myopathy 1 COL12A1 DOID:0050663 pituitary hormone deficiency, combined, 2 pituitary_hormone_deficiency_combined_2_2 Pituitary Hormone Deficiency, Combined, 2 SOX3 DOID:9410 senior-loken syndrome 1 senior_loken_syndrome_1 Senior-Loken Syndrome 1 INVS DOID:0050576 dubowitz syndrome dubowitz_syndrome Dubowitz Syndrome LIG4 DOID:14796 kallmann syndrome kallmann_syndrome Kallmann Syndrome WDR11 DOID:3614 lennox-gastaut syndrome lennox_gastaut_syndrome Lennox-Gastaut Syndrome DNM1 DOID:0050561 coffin-siris syndrome 1 coffin_siris_syndrome_1 Coffin-Siris Syndrome 1 ARID2 DOID:1925 peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX13 DOID:0050444 coffin-siris syndrome 1 coffin_siris_syndrome_1 Coffin-Siris Syndrome 1 SOX11 DOID:1925 benign familial infantile epilepsy benign_familial_infantile_epilepsy Benign Familial Infantile Epilepsy KCNQ2 DOID:0060169 chondrosarcoma, extraskeletal myxoid chondrosarcoma_extraskeletal_myxoid Chondrosarcoma, Extraskeletal Myxoid TFG DOID:6496 tukel syndrome tukel_syndrome Tukel Syndrome TUBB2B DOID:0080143 peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX3 DOID:0050444 dubowitz syndrome dubowitz_syndrome Dubowitz Syndrome NSUN2 DOID:14796 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability DYNC1H1 DOID:0060307 central hypoventilation syndrome, congenital central_hypoventilation_syndrome_congenital Central Hypoventilation Syndrome, Congenital MYO1H DOID:0060731 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 SOS2 DOID:3490 schneckenbecken dysplasia schneckenbecken_dysplasia Schneckenbecken Dysplasia INPPL1 DOID:0050775 benign familial infantile epilepsy benign_familial_infantile_epilepsy Benign Familial Infantile Epilepsy KCNQ3 DOID:0060169 senior-loken syndrome 1 senior_loken_syndrome_1 Senior-Loken Syndrome 1 CEP164 DOID:0050576 coloboma of macula coloboma_of_macula Coloboma of Macula SALL2 DOID:12270 senior-loken syndrome 1 senior_loken_syndrome_1 Senior-Loken Syndrome 1 NPHP4 DOID:0050576 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv FKBP10 DOID:0110340 shwachman-diamond syndrome 1 shwachman_diamond_syndrome_1 Shwachman-Diamond Syndrome 1 DNAJC21 DOID:0060479 unverricht-lundborg syndrome unverricht_lundborg_syndrome Unverricht-Lundborg Syndrome PRICKLE1 DOID:3535 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR203A DOID:916 omenn syndrome omenn_syndrome Omenn Syndrome IL2RG DOID:0060010 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability GRIK2 DOID:0060308 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability SYNGAP1 DOID:0060307 lennox-gastaut syndrome lennox_gastaut_syndrome Lennox-Gastaut Syndrome GABRB3 DOID:0050561 hemoglobin d disease hemoglobin_d_disease Hemoglobin D Disease HBB DOID:5378 pseudosarcomatous fibromatosis pseudosarcomatous_fibromatosis Pseudosarcomatous Fibromatosis MYH9 DOID:7327 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 VCP DOID:0060213 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability DOCK8 DOID:0060307 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 AKAP9 DOID:0110644 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability TECR DOID:0060308 unverricht-lundborg syndrome unverricht_lundborg_syndrome Unverricht-Lundborg Syndrome SCARB2 DOID:3535 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion ITGA7 DOID:0080102 enchondromatosis, multiple, ollier type enchondromatosis_multiple_ollier_type Enchondromatosis, Multiple, Ollier Type IDH1 DOID:4624 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 PIGQ DOID:0050709 senior-loken syndrome 1 senior_loken_syndrome_1 Senior-Loken Syndrome 1 SDCCAG8 DOID:0050576 enchondromatosis, multiple, ollier type enchondromatosis_multiple_ollier_type Enchondromatosis, Multiple, Ollier Type IDH2 DOID:4624 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes MT-TW DOID:3687 hemihyperplasia, isolated hemihyperplasia_isolated Hemihyperplasia, Isolated IGF2 persistent hyperplastic primary vitreous persistent_hyperplastic_primary_vitreous Persistent Hyperplastic Primary Vitreous FZD4 DOID:0060282 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes MT-TS1 DOID:3687 senior-loken syndrome 1 senior_loken_syndrome_1 Senior-Loken Syndrome 1 NPHP3 DOID:0050576 sudden infant death syndrome sudden_infant_death_syndrome Sudden Infant Death Syndrome GPD1L DOID:9007 46 xy gonadal dysgenesis 46_xy_gonadal_dysgenesis 46 Xy Gonadal Dysgenesis MAP3K1 DOID:14448 hydranencephaly hydranencephaly Hydranencephaly NDE1 DOID:4626 ullrich congenital muscular dystrophy 1 ullrich_congenital_muscular_dystrophy_1 Ullrich Congenital Muscular Dystrophy 1 COL12A1 DOID:0050558 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor SDHA DOID:9253 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability ST3GAL3 DOID:0060308 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii WNT1 DOID:0110339 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv SPARC DOID:0110340 lipomatosis, multiple symmetric lipomatosis_multiple_symmetric Lipomatosis, Multiple Symmetric MFN2 DOID:14116 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma NFKBIA DOID:9261 parkinson disease 15, autosomal recessive early-onset parkinson_disease_15_autosomal_recessive_early_onset Parkinson Disease 15, Autosomal Recessive Early-Onset SNCA DOID:0060372 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 SQSTM1 DOID:332 ewing sarcoma ewing_sarcoma Ewing Sarcoma ETV4 DOID:5614 prostate cancer prostate_cancer Prostate Cancer HOXB13 DOID:10286 kallmann syndrome kallmann_syndrome Kallmann Syndrome FLRT3 DOID:3614 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CDHR1 DOID:10584 kallmann syndrome kallmann_syndrome Kallmann Syndrome FGF17 DOID:3614 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency CD81 DOID:12177 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa POC1B DOID:10584 tooth agenesis tooth_agenesis Tooth Agenesis TGFA DOID:0050591 sudden infant death syndrome sudden_infant_death_syndrome Sudden Infant Death Syndrome KCNJ8 DOID:9007 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor CARS DOID:0050905 kallmann syndrome kallmann_syndrome Kallmann Syndrome IL17RD DOID:3614 kallmann syndrome kallmann_syndrome Kallmann Syndrome SPRY4 DOID:3614 rhabdomyosarcoma rhabdomyosarcoma Rhabdomyosarcoma MIR206 DOID:3247 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa TTLL5 DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RAB28 DOID:10584 kallmann syndrome kallmann_syndrome Kallmann Syndrome DUSP6 DOID:3614 brugada syndrome brugada_syndrome Brugada Syndrome ABCC9 DOID:0050451 lung cancer lung_cancer Lung Cancer MIR429 DOID:3908 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFAF3 DOID:3652 alzheimer disease alzheimer_disease Alzheimer Disease MIR107 DOID:10652 multiple sclerosis multiple_sclerosis Multiple Sclerosis MIR326 DOID:2377 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency NFKB1 DOID:12177 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency TNFSF12 DOID:12177 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency MS4A1 DOID:12177 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CNGA3 DOID:10584 tooth agenesis tooth_agenesis Tooth Agenesis FGFR1 DOID:0050591 oral squamous cell carcinoma oral_squamous_cell_carcinoma Oral Squamous Cell Carcinoma MIR137 DOID:0050866 prostate cancer prostate_cancer Prostate Cancer MIR449A DOID:10286 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa OPN1LW DOID:10584 pulmonary hypertension pulmonary_hypertension Pulmonary Hypertension MIR759 DOID:6432 mycosis fungoides mycosis_fungoides Mycosis Fungoides TNFRSF1B DOID:8691 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 IGH west syndrome west_syndrome West Syndrome GRIN2B DOID:0050562 cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma PTPN3 DOID:4947 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 FIG4 DOID:332 myopathy, tubular aggregate, 1 myopathy_tubular_aggregate_1 Myopathy, Tubular Aggregate, 1 CASQ1 DOID:0080089 medulloblastoma medulloblastoma Medulloblastoma MIR326 DOID:0050902 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 FUS DOID:332 prostate cancer prostate_cancer Prostate Cancer EPHB2 DOID:10286 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma BRAF DOID:4851 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 DAO DOID:332 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia MLLT10 congenital ichthyosiform erythroderma congenital_ichthyosiform_erythroderma Congenital Ichthyosiform Erythroderma SULT2B1 DOID:1699 spinocerebellar ataxia 37 spinocerebellar_ataxia_37 Spinocerebellar Ataxia 37 SCA37 DOID:0050984 spastic paraplegia 23 spastic_paraplegia_23 Spastic Paraplegia 23 SPG23 DOID:0110774 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid TET2 DOID:9119 hepatitis c hepatitis_c Hepatitis C MIR122 DOID:1883 pancreatic ductal adenocarcinoma pancreatic_ductal_adenocarcinoma Pancreatic Ductal Adenocarcinoma MIR21 DOID:3498 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia NUP214 melanoma, uveal melanoma_uveal Melanoma, Uveal BAP1 DOID:6039 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 PON1 DOID:332 endometrial stromal sarcoma endometrial_stromal_sarcoma Endometrial Stromal Sarcoma NUTM2A DOID:4226 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis MIR146A DOID:7148 ependymoma ependymoma Ependymoma C11orf95 squamous cell carcinoma squamous_cell_carcinoma Squamous Cell Carcinoma MIR205 DOID:1749 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia TRB ependymoma ependymoma Ependymoma RELA tongue squamous cell carcinoma tongue_squamous_cell_carcinoma Tongue Squamous Cell Carcinoma MIR21 DOID:0050865 lymphoma, mucosa-associated lymphoid type lymphoma_mucosa_associated_lymphoid_type Lymphoma, Mucosa-Associated Lymphoid Type IGH DOID:0050909 mantle cell lymphoma mantle_cell_lymphoma Mantle Cell Lymphoma IGH DOID:0050746 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia TRA fibrolamellar carcinoma fibrolamellar_carcinoma Fibrolamellar Carcinoma DNAJB1 DOID:5015 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR196A2 DOID:916 breast cancer breast_cancer Breast Cancer MIR200C DOID:3459 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PITPNM3 DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RAX2 DOID:10584 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ADAM9 DOID:10584 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a UBE2T DOID:13636 lung cancer lung_cancer Lung Cancer MIR34A DOID:3908 gastric cancer gastric_cancer Gastric Cancer MIR34A DOID:5517 acute myocardial infarction acute_myocardial_infarction Acute Myocardial Infarction MIR499A DOID:9408 acute myocardial infarction acute_myocardial_infarction Acute Myocardial Infarction MIR208B DOID:9408 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis MIR155 DOID:7148 breast cancer breast_cancer Breast Cancer MIR34A DOID:3459 hemangiopericytoma, malignant hemangiopericytoma_malignant Hemangiopericytoma, Malignant NAB2 DOID:264 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia MYC epithelioid hemangioendothelioma epithelioid_hemangioendothelioma Epithelioid Hemangioendothelioma WWTR1 breast cancer breast_cancer Breast Cancer MIR200B DOID:3459 breast cancer breast_cancer Breast Cancer MIR27A DOID:3459 craniopharyngioma craniopharyngioma Craniopharyngioma BRAF DOID:3840 lung cancer lung_cancer Lung Cancer MIR200C DOID:3908 tongue squamous cell carcinoma tongue_squamous_cell_carcinoma Tongue Squamous Cell Carcinoma MIR222 DOID:0050865 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR106B DOID:916 alzheimer disease alzheimer_disease Alzheimer Disease MIR29A DOID:10652 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR29A DOID:916 chronic mucocutaneous candidiasis chronic_mucocutaneous_candidiasis Chronic Mucocutaneous Candidiasis TRAF3IP2 DOID:2058 gastric cancer gastric_cancer Gastric Cancer MIR200C DOID:5517 gastric cancer gastric_cancer Gastric Cancer MIR141 DOID:5517 gastric cancer gastric_cancer Gastric Cancer MIR27A DOID:5517 gastric cancer gastric_cancer Gastric Cancer MIR145 DOID:5517 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma RAF1 DOID:4851 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CSPP1 DOID:0110980 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a RAD51C DOID:13636 mantle cell lymphoma mantle_cell_lymphoma Mantle Cell Lymphoma MIR16-1 DOID:0050746 peters-plus syndrome peters_plus_syndrome_2 Peters-Plus Syndrome FOXE3 DOID:0080201 colorectal cancer colorectal_cancer Colorectal Cancer MIR126 DOID:9256 alzheimer disease alzheimer_disease Alzheimer Disease MIR29B1 DOID:10652 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 CHCHD10 DOID:332 cleft lip/palate cleft_lip_palate Cleft Lip/palate DLX4 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TCTN1 DOID:0110980 gastric cancer gastric_cancer Gastric Cancer MIR106B DOID:5517 bladder cancer bladder_cancer Bladder Cancer MIR143 DOID:4007 ovarian cancer ovarian_cancer Ovarian Cancer MIR146A DOID:2394 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CEP120 DOID:0110980 epithelioid hemangioendothelioma epithelioid_hemangioendothelioma Epithelioid Hemangioendothelioma TFE3 gastric cancer gastric_cancer Gastric Cancer MIR203A DOID:5517 gastric cancer gastric_cancer Gastric Cancer MIR20A DOID:5517 gastric cancer gastric_cancer Gastric Cancer MIR222 DOID:5517 cervical cancer cervical_cancer Cervical Cancer MIR214 DOID:4362 colorectal cancer colorectal_cancer Colorectal Cancer MIR34C DOID:9256 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR22 DOID:916 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 KIAA0556 DOID:0110980 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma MIR29C DOID:9261 gastric cancer gastric_cancer Gastric Cancer MIR143 DOID:5517 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR34A DOID:4905 ovarian cancer ovarian_cancer Ovarian Cancer MIR214 DOID:2394 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor CLTC DOID:0050905 mycosis fungoides mycosis_fungoides Mycosis Fungoides CTLA4 DOID:8691 mycosis fungoides mycosis_fungoides Mycosis Fungoides CD28 DOID:8691 prostate cancer prostate_cancer Prostate Cancer MIR34A DOID:10286 prostate cancer prostate_cancer Prostate Cancer MIR200B DOID:10286 panic disorder panic_disorder Panic Disorder MIR22 DOID:594 cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma MIR21 DOID:4947 lung cancer lung_cancer Lung Cancer MIR29C DOID:3908 lung cancer lung_cancer Lung Cancer MIR93 DOID:3908 lung cancer lung_cancer Lung Cancer MIR29A DOID:3908 lung cancer lung_cancer Lung Cancer MIR200B DOID:3908 gastric cancer gastric_cancer Gastric Cancer MIR215 DOID:5517 gastric cancer gastric_cancer Gastric Cancer MIR451A DOID:5517 glioma glioma Glioma MIR221 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 MATR3 DOID:332 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CEP104 DOID:0110980 sudden infant death syndrome sudden_infant_death_syndrome Sudden Infant Death Syndrome CAV3 DOID:9007 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia PRKAR1A DOID:0060318 prostate cancer prostate_cancer Prostate Cancer MIR16-1 DOID:10286 prostate cancer prostate_cancer Prostate Cancer MIR15A DOID:10286 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome MIR34A DOID:0050908 ovarian cancer ovarian_cancer Ovarian Cancer MIR125A DOID:2394 glioma glioma Glioma MIR222 gastric cancer gastric_cancer Gastric Cancer MIR93 DOID:5517 frontotemporal dementia frontotemporal_dementia Frontotemporal Dementia MIR659 DOID:9255 glioblastoma glioblastoma Glioblastoma MIR137 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 HNRNPA1 DOID:332 polycystic kidney disease polycystic_kidney_disease Polycystic Kidney Disease MIR17 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa OPN1MW DOID:10584 esophageal cancer esophageal_cancer Esophageal Cancer MIR34A DOID:5041 glioma glioma Glioma MIR34A dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy MIR499A DOID:12930 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy MIR196A2 DOID:12930 burkitt lymphoma burkitt_lymphoma Burkitt Lymphoma MIR143 DOID:8584 burkitt lymphoma burkitt_lymphoma Burkitt Lymphoma MIR145 DOID:8584 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR96 DOID:4905 sickle cell disease sickle_cell_disease Sickle Cell Disease MIR144 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor TPM4 DOID:0050905 glioblastoma multiforme glioblastoma_multiforme Glioblastoma Multiforme MIR221 DOID:3068 endometrial stromal sarcoma endometrial_stromal_sarcoma Endometrial Stromal Sarcoma NUTM2B DOID:4226 psoriatic arthritis psoriatic_arthritis Psoriatic Arthritis MIR146A DOID:9008 medulloblastoma medulloblastoma Medulloblastoma MIR34A DOID:0050902 myocardial infarction myocardial_infarction Myocardial Infarction MIR210 DOID:5844 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 PFN1 DOID:332 esophageal cancer esophageal_cancer Esophageal Cancer MIR373 DOID:5041 oral cancer oral_cancer Oral Cancer MIR31 fuchs' endothelial dystrophy fuchs_endothelial_dystrophy Fuchs' Endothelial Dystrophy ZEB1 DOID:11555 melanoma melanoma Melanoma MIR221 DOID:1909 melanoma melanoma Melanoma MIR205 DOID:1909 glioma glioma Glioma MIR15B glioma glioma Glioma MIR146B pulmonary hypertension pulmonary_hypertension Pulmonary Hypertension MIR20A DOID:6432 cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma MIR373 DOID:4947 neuroblastoma neuroblastoma Neuroblastoma MIR34A DOID:769 glioma glioma Glioma MIR184 retinoblastoma retinoblastoma Retinoblastoma MIR34A DOID:768 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 CHMP2B DOID:332 glioblastoma glioblastoma Glioblastoma MIR34A glioblastoma glioblastoma Glioblastoma MIR296 glioma glioma Glioma MIR17 cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma MIR141 DOID:4947 cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma MIR204 DOID:4947 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 FLT3 microphthalmia microphthalmia Microphthalmia TMEM98 DOID:10629 esophageal cancer esophageal_cancer Esophageal Cancer MIR30E DOID:5041 esophageal cancer esophageal_cancer Esophageal Cancer MIR16-2 DOID:5041 esophageal cancer esophageal_cancer Esophageal Cancer MIR126 DOID:5041 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia MYB glioblastoma glioblastoma Glioblastoma MIR182 periventricular nodular heterotopia periventricular_nodular_heterotopia Periventricular Nodular Heterotopia TMTC3 DOID:0050454 heart disease heart_disease Heart Disease MIR21 DOID:1682 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia FLT3 schizophrenia schizophrenia Schizophrenia MIR206 DOID:5419 catecholaminergic polymorphic ventricular tachycardia catecholaminergic_polymorphic_ventricular_tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia TECRL DOID:0060674 astrocytoma astrocytoma Astrocytoma MIR106A DOID:3069 psoriasis psoriasis Psoriasis MIR203A DOID:8893 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 CCNF DOID:332 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 ARMC9 DOID:0110980 cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma MIR370 DOID:4947 cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma MIR200B DOID:4947 cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma MIR152 DOID:4947 isolated growth hormone deficiency, type ia isolated_growth_hormone_deficiency_type_ia Isolated Growth Hormone Deficiency, Type Ia RNPC3 DOID:0060873 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a RFWD3 DOID:13636 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a XRCC2 DOID:13636 duane retraction syndrome duane_retraction_syndrome Duane Retraction Syndrome COL25A1 DOID:12557 melanoma, uveal melanoma_uveal Melanoma, Uveal CYSLTR2 DOID:6039 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL35 DOID:1339 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia ABL1 treacher collins syndrome 1 treacher_collins_syndrome_1 Treacher Collins Syndrome 1 POLR1C DOID:2908 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis IFT140 DOID:14791 cowden disease cowden_disease Cowden Disease AKT1 DOID:6457 leukodystrophy, hypomyelinating, 6 leukodystrophy_hypomyelinating_6 Leukodystrophy, Hypomyelinating, 6 UFM1 DOID:0060798 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa TUB DOID:10584 cowden disease cowden_disease Cowden Disease SDHD DOID:6457 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma FGFR1 DOID:4851 coloboma of macula coloboma_of_macula Coloboma of Macula ABCB6 DOID:12270 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 A2ML1 DOID:3490 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 RASA2 DOID:3490 cowden disease cowden_disease Cowden Disease SDHB DOID:6457 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 LZTR1 DOID:3490 polycystic kidney disease 4 with or without polycystic liver disease polycystic_kidney_disease_4_with_or_without_polycystic_liver_disease Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease DZIP1L DOID:0110861 storage pool platelet disease storage_pool_platelet_disease Storage Pool Platelet Disease GFI1B DOID:2223 gliosarcoma gliosarcoma Gliosarcoma EGFR DOID:3071 peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX10 DOID:0050444 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 BCR autosomal dominant polycystic kidney disease autosomal_dominant_polycystic_kidney_disease Autosomal Dominant Polycystic Kidney Disease GANAB DOID:898 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 PIBF1 DOID:0110980 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a MAD2L2 DOID:13636 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 GLE1 DOID:332 usher syndrome, type iiia usher_syndrome_type_iiia Usher Syndrome, Type Iiia HARS DOID:0110841 glioblastoma multiforme glioblastoma_multiforme Glioblastoma Multiforme MIR137 DOID:3068 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction MYH7B DOID:0060480 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR375 DOID:9351 cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome SETD5 DOID:11725 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 PNKP DOID:0050709 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 TBK1 DOID:0060213 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 ABL1 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency PRKCD DOID:12177 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction PKP2 DOID:0060480 seckel syndrome seckel_syndrome Seckel Syndrome CENPE DOID:0050569 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFV1 DOID:3652 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma SRGAP3 DOID:4851 cowden disease cowden_disease Cowden Disease SDHC DOID:6457 klippel-trenaunay-weber syndrome klippel_trenaunay_weber_syndrome Klippel-Trenaunay-Weber Syndrome AGGF1 DOID:2926 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 C21orf2 DOID:332 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability MAN1B1 DOID:0060308 meckel syndrome, type 1 meckel_syndrome_type_1 Meckel Syndrome, Type 1 CEP55 DOID:0070115 rigid spine muscular dystrophy 1 rigid_spine_muscular_dystrophy_1 Rigid Spine Muscular Dystrophy 1 MYH7 DOID:0110633 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 HYLS1 DOID:0110980 cowden disease cowden_disease Cowden Disease SEC23B DOID:6457 peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX19 DOID:0050444 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic RPS15 DOID:1040 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 SCN4B DOID:0110644 kabuki syndrome 1 kabuki_syndrome_1 Kabuki Syndrome 1 RAP1A DOID:0060473 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability MED23 DOID:0060308 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa NMNAT1 DOID:10584 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma NTRK2 DOID:4851 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia NABP1 DOID:0060318 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia BCR autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability NSUN2 DOID:0060308 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 SNTA1 DOID:0110644 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CACNA2D4 DOID:10584 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 PON2 DOID:332 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes MT-CO2 DOID:3687 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 MIR375 DOID:3910 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic POT1 DOID:1040 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ATF6 DOID:10584 breast cancer breast_cancer Breast Cancer MIR429 DOID:3459 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation SCN2B DOID:0050650 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation SCN3B DOID:0050650 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 ANXA11 DOID:332 coloboma of macula coloboma_of_macula Coloboma of Macula FZD5 DOID:12270 sezary's disease sezarys_disease Sezary's Disease CTLA4 DOID:8541 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes MT-CO1 DOID:3687 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa DRAM2 DOID:10584 omenn syndrome omenn_syndrome Omenn Syndrome CHD7 DOID:0060010 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia TBL1XR1 DOID:0060318 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 SIK1 DOID:0050709 glaucoma 3, primary congenital, a glaucoma_3_primary_congenital_a Glaucoma 3, Primary Congenital, a TEK DOID:11211 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 KAT6B DOID:3490 sotos syndrome 1 sotos_syndrome_1 Sotos Syndrome 1 SETD2 DOID:14748 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 ERBB4 DOID:332 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic IKZF3 DOID:1040 craniometaphyseal dysplasia, autosomal dominant craniometaphyseal_dysplasia_autosomal_dominant Craniometaphyseal Dysplasia, Autosomal Dominant GJA1 DOID:0080033 thyroid carcinoma, familial medullary thyroid_carcinoma_familial_medullary Thyroid Carcinoma, Familial Medullary ESR2 DOID:3973 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 TRIP13 DOID:5176 rigid spine muscular dystrophy 1 rigid_spine_muscular_dystrophy_1 Rigid Spine Muscular Dystrophy 1 TTN DOID:0110633 amyotrophic lateral sclerosis 1 amyotrophic_lateral_sclerosis_1 Amyotrophic Lateral Sclerosis 1 PON3 DOID:332 heart disease heart_disease Heart Disease MIR320A DOID:1682 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 MIR346 DOID:3962 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS7 DOID:0060536 3-hydroxyacyl-coa dehydrogenase deficiency 3_hydroxyacyl_coa_dehydrogenase_deficiency 3-Hydroxyacyl-Coa Dehydrogenase Deficiency MIR122 3-hydroxyacyl-coa dehydrogenase deficiency 3_hydroxyacyl_coa_dehydrogenase_deficiency 3-Hydroxyacyl-Coa Dehydrogenase Deficiency MIR33A 3-methylglutaconic aciduria, type iii 3_methylglutaconic_aciduria_type_iii 3-Methylglutaconic Aciduria, Type Iii C19orf70 DOID:5723 46 xy gonadal dysgenesis 46_xy_gonadal_dysgenesis 46 Xy Gonadal Dysgenesis CBX2 DOID:14448 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 SPIDR 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 SOX3 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 SOX9 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 PSMC3IP 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 NR5A1 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 NUP107 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 BMP15 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 FSHR 46,xy partial gonadal dysgenesis 46xy_partial_gonadal_dysgenesis 46,xy Partial Gonadal Dysgenesis WWOX 46,xy partial gonadal dysgenesis 46xy_partial_gonadal_dysgenesis 46,xy Partial Gonadal Dysgenesis ZFPM2 46,xy partial gonadal dysgenesis 46xy_partial_gonadal_dysgenesis 46,xy Partial Gonadal Dysgenesis SOX9 46,xy partial gonadal dysgenesis 46xy_partial_gonadal_dysgenesis 46,xy Partial Gonadal Dysgenesis SRY 46,xy partial gonadal dysgenesis 46xy_partial_gonadal_dysgenesis 46,xy Partial Gonadal Dysgenesis NR5A1 46,xy partial gonadal dysgenesis 46xy_partial_gonadal_dysgenesis 46,xy Partial Gonadal Dysgenesis MAP3K1 46,xy partial gonadal dysgenesis 46xy_partial_gonadal_dysgenesis 46,xy Partial Gonadal Dysgenesis GATA4 aapoai amyloidosis aapoai_amyloidosis Aapoai Amyloidosis APOA1 aapoaii amyloidosis aapoaii_amyloidosis Aapoaii Amyloidosis APOA2 achalasia, familial esophageal achalasia_familial_esophageal Achalasia, Familial Esophageal CRLF1 achalasia, familial esophageal achalasia_familial_esophageal Achalasia, Familial Esophageal NOS1 acquired idiopathic sideroblastic anemia acquired_idiopathic_sideroblastic_anemia Acquired Idiopathic Sideroblastic Anemia SF3B1 acquired idiopathic sideroblastic anemia acquired_idiopathic_sideroblastic_anemia Acquired Idiopathic Sideroblastic Anemia TET2 acral dystrophic epidermolysis bullosa acral_dystrophic_epidermolysis_bullosa Acral Dystrophic Epidermolysis Bullosa COL7A1 acrocallosal syndrome acrocallosal_syndrome Acrocallosal Syndrome SUFU DOID:9250 acrocephalopolydactylous dysplasia acrocephalopolydactylous_dysplasia Acrocephalopolydactylous Dysplasia MYO5A acrodysostosis with multiple hormone resistance acrodysostosis_with_multiple_hormone_resistance Acrodysostosis with Multiple Hormone Resistance PRKAR1A acrodysostosis with multiple hormone resistance acrodysostosis_with_multiple_hormone_resistance Acrodysostosis with Multiple Hormone Resistance PDE4D acromegaloid facial appearance syndrome acromegaloid_facial_appearance_syndrome Acromegaloid Facial Appearance Syndrome ABCC9 acromegaloid hypertrichosis syndrome acromegaloid_hypertrichosis_syndrome Acromegaloid Hypertrichosis Syndrome ABCC9 acute basophilic leukemia acute_basophilic_leukemia Acute Basophilic Leukemia GATA1 acute basophilic leukemia acute_basophilic_leukemia Acute Basophilic Leukemia MYB acute megakaryoblastic leukemia in down syndrome acute_megakaryoblastic_leukemia_in_down_syndrome Acute Megakaryoblastic Leukemia in Down Syndrome GATA1 acute megakaryoblastic leukemia without down syndrome acute_megakaryoblastic_leukemia_without_down_syndrome Acute Megakaryoblastic Leukemia Without Down Syndrome GLIS2 acute megakaryoblastic leukemia without down syndrome acute_megakaryoblastic_leukemia_without_down_syndrome Acute Megakaryoblastic Leukemia Without Down Syndrome CBFA2T3 acute myeloblastic leukemia with maturation acute_myeloblastic_leukemia_with_maturation Acute Myeloblastic Leukemia with Maturation NPM1 acute myeloblastic leukemia with maturation acute_myeloblastic_leukemia_with_maturation Acute Myeloblastic Leukemia with Maturation FLT3 acute myeloblastic leukemia with maturation acute_myeloblastic_leukemia_with_maturation Acute Myeloblastic Leukemia with Maturation KIT acute myeloblastic leukemia without maturation acute_myeloblastic_leukemia_without_maturation Acute Myeloblastic Leukemia Without Maturation NPM1 acute myeloblastic leukemia without maturation acute_myeloblastic_leukemia_without_maturation Acute Myeloblastic Leukemia Without Maturation FLT3 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) acute_myeloid_leukemia_with_abnormal_bone_marrow_eosinophils_inv16p13q22_or_t1616p13q22 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) MYH11 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) acute_myeloid_leukemia_with_inv3p21q262_or_t33p21q262 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) RPN1 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) acute_myeloid_leukemia_with_inv3p21q262_or_t33p21q262 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) MECOM acute myeloid leukemia with minimal differentiation acute_myeloid_leukemia_with_minimal_differentiation Acute Myeloid Leukemia with Minimal Differentiation FLT3 acute myeloid leukemia with npm1 somatic mutations acute_myeloid_leukemia_with_npm1_somatic_mutations Acute Myeloid Leukemia with Npm1 Somatic Mutations NPM1 acute myeloid leukemia with t(6;9)(p23;q34) acute_myeloid_leukemia_with_t69p23q34 Acute Myeloid Leukemia with T(6;9)(p23;q34) NUP214 acute myeloid leukemia with t(6;9)(p23;q34) acute_myeloid_leukemia_with_t69p23q34 Acute Myeloid Leukemia with T(6;9)(p23;q34) DEK acute myeloid leukemia with t(8;21)(q22;q22) translocation acute_myeloid_leukemia_with_t821q22q22_translocation Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation RUNX1 acute myeloid leukemia with t(8;21)(q22;q22) translocation acute_myeloid_leukemia_with_t821q22q22_translocation Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation RUNX1T1 acute myeloid leukemia with t(9;11)(p22;q23) acute_myeloid_leukemia_with_t911p22q23 Acute Myeloid Leukemia with T(9;11)(p22;q23) MLLT3 acute myeloid leukemia with t(9;11)(p22;q23) acute_myeloid_leukemia_with_t911p22q23 Acute Myeloid Leukemia with T(9;11)(p22;q23) KMT2A acute neonatal citrullinemia type i acute_neonatal_citrullinemia_type_i Acute Neonatal Citrullinemia Type I ASS1 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIRLET7A3 DOID:0060318 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR210 DOID:0060318 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR223 DOID:0060318 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia FIP1L1 DOID:0060318 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIRLET7C DOID:0060318 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIRLET7D DOID:0060318 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR126 DOID:0060318 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR15A DOID:0060318 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR16-1 DOID:0060318 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR23A DOID:0060318 adenosine monophosphate deaminase 1 deficiency adenosine_monophosphate_deaminase_1_deficiency Adenosine Monophosphate Deaminase 1 Deficiency AMPD3 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency adrenal_hyperplasia_congenital_due_to_17_alpha_hydroxylase_deficiency Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency CYB5A adrenocortical carcinoma, hereditary adrenocortical_carcinoma_hereditary Adrenocortical Carcinoma, Hereditary MIR195 DOID:3948 adult hepatocellular carcinoma adult_hepatocellular_carcinoma Adult Hepatocellular Carcinoma AXIN1 adult hepatocellular carcinoma adult_hepatocellular_carcinoma Adult Hepatocellular Carcinoma PIK3CA adult hepatocellular carcinoma adult_hepatocellular_carcinoma Adult Hepatocellular Carcinoma CASP8 adult krabbe disease adult_krabbe_disease Adult Krabbe Disease GALC adult-onset citrullinemia type i adult_onset_citrullinemia_type_i Adult-Onset Citrullinemia Type I ASS1 adult-onset distal myopathy due to vcp mutation adult_onset_distal_myopathy_due_to_vcp_mutation Adult-Onset Distal Myopathy Due to Vcp Mutation VCP afib amyloidosis afib_amyloidosis Afib Amyloidosis FGA agammaglobulinemia, non-bruton type agammaglobulinemia_non_bruton_type Agammaglobulinemia, Non-Bruton Type PIK3R1 agammaglobulinemia, non-bruton type agammaglobulinemia_non_bruton_type Agammaglobulinemia, Non-Bruton Type TCF3 agammaglobulinemia, non-bruton type agammaglobulinemia_non_bruton_type Agammaglobulinemia, Non-Bruton Type LRRC8A agammaglobulinemia, non-bruton type agammaglobulinemia_non_bruton_type Agammaglobulinemia, Non-Bruton Type CD79B agammaglobulinemia, non-bruton type agammaglobulinemia_non_bruton_type Agammaglobulinemia, Non-Bruton Type BLNK agammaglobulinemia, non-bruton type agammaglobulinemia_non_bruton_type Agammaglobulinemia, Non-Bruton Type CD79A agammaglobulinemia, non-bruton type agammaglobulinemia_non_bruton_type Agammaglobulinemia, Non-Bruton Type IGLL1 al amyloidosis al_amyloidosis Al Amyloidosis LYZ aleukemic mast cell leukemia aleukemic_mast_cell_leukemia Aleukemic Mast Cell Leukemia KIT alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly PTCH1 alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly SIX3 alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly TGIF1 alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly ZIC2 alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly NODAL alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly TDGF1 alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly GAS1 alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly CDON alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly DISP1 alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly FGF8 alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly GLI2 alobar holoprosencephaly alobar_holoprosencephaly Alobar Holoprosencephaly FOXH1 alopecia-intellectual disability syndrome alopecia_intellectual_disability_syndrome Alopecia-Intellectual Disability Syndrome ITGB6 alopecia-intellectual disability syndrome alopecia_intellectual_disability_syndrome Alopecia-Intellectual Disability Syndrome AHSG alpha-mannosidosis, adult form alpha_mannosidosis_adult_form Alpha-Mannosidosis, Adult Form MAN2B1 alpha-mannosidosis, infantile form alpha_mannosidosis_infantile_form Alpha-Mannosidosis, Infantile Form MAN2B1 alzheimer disease alzheimer_disease Alzheimer Disease MIR298 DOID:10652 alzheimer disease alzheimer_disease Alzheimer Disease MIR34A DOID:10652 alzheimer disease alzheimer_disease Alzheimer Disease MIR328 DOID:10652 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type AMELX amelogenesis imperfecta-gingival hyperplasia syndrome amelogenesis_imperfecta_gingival_hyperplasia_syndrome Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome FAM20A anaplastic thyroid cancer anaplastic_thyroid_cancer Anaplastic Thyroid Cancer MIR18A anaplastic thyroid cancer anaplastic_thyroid_cancer Anaplastic Thyroid Cancer MIR34C anaplastic thyroid cancer anaplastic_thyroid_cancer Anaplastic Thyroid Cancer MIR19A anauxetic dysplasia 1 anauxetic_dysplasia_1 Anauxetic Dysplasia 1 POP1 DOID:0050640 anemia, congenital dyserythropoietic, type ia anemia_congenital_dyserythropoietic_type_ia Anemia, Congenital Dyserythropoietic, Type Ia C15orf41 anemia, congenital dyserythropoietic, type iii anemia_congenital_dyserythropoietic_type_iii Anemia, Congenital Dyserythropoietic, Type Iii KIF23 angel-shaped phalangoepiphyseal dysplasia angel_shaped_phalangoepiphyseal_dysplasia_2 Angel-Shaped Phalangoepiphyseal Dysplasia GDF5 angelman syndrome due to a point mutation angelman_syndrome_due_to_a_point_mutation Angelman Syndrome Due to a Point Mutation UBE3A angioma, tufted angioma_tufted Angioma, Tufted GNA14 anosmia, isolated congenital anosmia_isolated_congenital Anosmia, Isolated Congenital TENM1 anosmia, isolated congenital anosmia_isolated_congenital Anosmia, Isolated Congenital CNGA2 anterior segment dysgenesis 7 anterior_segment_dysgenesis_7 Anterior Segment Dysgenesis 7 ATOH7 DOID:0060648 aplasia cutis congenita, nonsyndromic aplasia_cutis_congenita_nonsyndromic Aplasia Cutis Congenita, Nonsyndromic DLL4 arthrogryposis multiplex congenita, neurogenic, with myelin defect arthrogryposis_multiplex_congenita_neurogenic_with_myelin_defect Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect CNTNAP1 arthrogryposis multiplex congenita, neurogenic, with myelin defect arthrogryposis_multiplex_congenita_neurogenic_with_myelin_defect Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect ADCY6 arthrogryposis, distal, type 2a arthrogryposis_distal_type_2a Arthrogryposis, Distal, Type 2a NALCN arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 NALCN asthma asthma Asthma MIR126 DOID:2841 asthma asthma Asthma MIR152 DOID:2841 asthma asthma Asthma MIR148A DOID:2841 asthma asthma Asthma MIR148B DOID:2841 astrocytoma astrocytoma Astrocytoma MIR21 DOID:3069 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ataxia_combined_cerebellar_and_peripheral_with_hearing_loss_and_diabetes_mellitus Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus MIR96 athyreosis athyreosis Athyreosis NKX2-5 athyreosis athyreosis Athyreosis SLC26A4 atrial septal defect 4 atrial_septal_defect_4 Atrial Septal Defect 4 GATA6 DOID:0110109 atrial septal defect 4 atrial_septal_defect_4 Atrial Septal Defect 4 MYH6 DOID:0110109 atrial septal defect 4 atrial_septal_defect_4 Atrial Septal Defect 4 NKX2-5 DOID:0110109 atrial septal defect 4 atrial_septal_defect_4 Atrial Septal Defect 4 TLL1 DOID:0110109 atrial septal defect 4 atrial_septal_defect_4 Atrial Septal Defect 4 GATA4 DOID:0110109 atrial septal defect 4 atrial_septal_defect_4 Atrial Septal Defect 4 CITED2 DOID:0110109 atrial septal defect 4 atrial_septal_defect_4 Atrial Septal Defect 4 ACTC1 DOID:0110109 atrial septal defect ostium primum atrial_septal_defect_ostium_primum Atrial Septal Defect Ostium Primum TLL1 atrial septal defect sinus venosus atrial_septal_defect_sinus_venosus Atrial Septal Defect Sinus Venosus CITED2 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 MIR378A atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 MIR1-2 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 MIR320A attenuated chédiak-higashi syndrome attenuated_chediak_higashi_syndrome Attenuated Chediak-Higashi Syndrome LYST atypical hemolytic-uremic syndrome with h factor anomaly atypical_hemolytic_uremic_syndrome_with_h_factor_anomaly Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly CFH atypical juvenile parkinsonism atypical_juvenile_parkinsonism Atypical Juvenile Parkinsonism SYNJ1 atypical juvenile parkinsonism atypical_juvenile_parkinsonism Atypical Juvenile Parkinsonism PODXL atypical juvenile parkinsonism atypical_juvenile_parkinsonism Atypical Juvenile Parkinsonism DNAJC6 auriculo-condylar syndrome auriculo_condylar_syndrome Auriculo-Condylar Syndrome GNAI3 auriculo-condylar syndrome auriculo_condylar_syndrome Auriculo-Condylar Syndrome EDN1 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome autoimmune_hemolytic_anemia_autoimmune_thrombocytopenia_primary_immunodeficiency_syndrome Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome TPP2 autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation autosomal_dominant_charcot_marie_tooth_disease_type_2_due_to_dgat2_mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation DGAT2 autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation autosomal_dominant_charcot_marie_tooth_disease_type_2_due_to_kif5a_mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation KIF5A autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation autosomal_dominant_charcot_marie_tooth_disease_type_2_due_to_tfg_mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation TFG autosomal dominant complex spastic paraplegia type 9b autosomal_dominant_complex_spastic_paraplegia_type_9b Autosomal Dominant Complex Spastic Paraplegia Type 9b ALDH18A1 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome autosomal_dominant_distal_axonal_motor_neuropathy_myofibrillar_myopathy_syndrome Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome HSPB8 autosomal dominant epilepsy with auditory features autosomal_dominant_epilepsy_with_auditory_features Autosomal Dominant Epilepsy with Auditory Features RELN autosomal dominant epilepsy with auditory features autosomal_dominant_epilepsy_with_auditory_features Autosomal Dominant Epilepsy with Auditory Features DEPDC5 autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain autosomal_dominant_intermediate_charcot_marie_tooth_disease_with_neuropathic_pain Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain MPZ autosomal dominant macrothrombocytopenia autosomal_dominant_macrothrombocytopenia Autosomal Dominant Macrothrombocytopenia TPM4 autosomal dominant macrothrombocytopenia autosomal_dominant_macrothrombocytopenia Autosomal Dominant Macrothrombocytopenia ITGA2B autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar2_deficiency Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency IFNGR2 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome autosomal_dominant_myopia_midfacial_retrusion_sensorineural_hearing_loss_rhizomelic_dysplasia_syndrome Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome COL11A1 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability GRIN1 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability EPB41L1 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability CSNK2B DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability CLTC DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability GRIN2B DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability DEAF1 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability EEF1A2 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability KIF1A DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability PPP3CA DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability RAB11A DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability TCF4 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability MBD5 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability KIRREL3 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability KCNQ5 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability CIC DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability HIVEP2 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability CAMK2B DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability CAMK2A DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability CHAMP1 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability CDH15 DOID:0060307 autosomal dominant non-syndromic intellectual disability autosomal_dominant_non_syndromic_intellectual_disability Autosomal Dominant Non-Syndromic Intellectual Disability CACNG2 DOID:0060307 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna MYO7A autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna OSBPL2 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna P2RX2 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna MYO6 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna MYO1C autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna MIR96 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna MYH14 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna MYH9 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna POU4F3 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna SIX1 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna TMC1 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna TNC autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna WFS1 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna TJP2 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna TECTA autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna SLC17A8 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna SLC44A4 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna TBC1D24 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna ACTG1 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna MCM2 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna CRYM autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna DIABLO autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna DIAPH3 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna COL11A2 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna COCH autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna CCDC50 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna CD164 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna CEACAM16 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna KITLG autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna DMXL2 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna GSDME autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna HOMER2 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna KCNQ4 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna EYA4 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna GRHL2 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna GJB6 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna GJB2 autosomal dominant non-syndromic sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna GJB3 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome autosomal_dominant_preaxial_polydactyly_upperback_hypertrichosis_syndrome Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome SHH autosomal dominant robinow syndrome autosomal_dominant_robinow_syndrome Autosomal Dominant Robinow Syndrome FZD2 autosomal dominant secondary polycythemia autosomal_dominant_secondary_polycythemia Autosomal Dominant Secondary Polycythemia EPAS1 autosomal dominant secondary polycythemia autosomal_dominant_secondary_polycythemia Autosomal Dominant Secondary Polycythemia EGLN1 autosomal dominant tubulointerstitial kidney disease, umod-related autosomal_dominant_tubulointerstitial_kidney_disease_umod_related Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related UMOD autosomal recessive ataxia due to pex10 deficiency autosomal_recessive_ataxia_due_to_pex10_deficiency Autosomal Recessive Ataxia Due to Pex10 Deficiency PEX10 autosomal recessive cerebellar ataxia with late-onset spasticity autosomal_recessive_cerebellar_ataxia_with_late_onset_spasticity Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity GBA2 autosomal recessive cerebral atrophy autosomal_recessive_cerebral_atrophy Autosomal Recessive Cerebral Atrophy TMPRSS4 autosomal recessive chorioretinopathy-microcephaly syndrome autosomal_recessive_chorioretinopathy_microcephaly_syndrome Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome TUBGCP4 autosomal recessive chorioretinopathy-microcephaly syndrome autosomal_recessive_chorioretinopathy_microcephaly_syndrome Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome PLK4 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction autosomal_recessive_complex_spastic_paraplegia_due_to_kennedy_pathway_dysfunction Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction SELENOI autosomal recessive cutis laxa type ii classic type autosomal_recessive_cutis_laxa_type_ii_classic_type Autosomal Recessive Cutis Laxa Type Ii Classic Type ATP6V1E1 DOID:0070141 autosomal recessive cutis laxa type ii classic type autosomal_recessive_cutis_laxa_type_ii_classic_type Autosomal Recessive Cutis Laxa Type Ii Classic Type ATP6V1A DOID:0070141 autosomal recessive cutis laxa type ii classic type autosomal_recessive_cutis_laxa_type_ii_classic_type Autosomal Recessive Cutis Laxa Type Ii Classic Type ATP6V0A2 DOID:0070141 autosomal recessive isolated optic atrophy autosomal_recessive_isolated_optic_atrophy Autosomal Recessive Isolated Optic Atrophy RTN4IP1 autosomal recessive isolated optic atrophy autosomal_recessive_isolated_optic_atrophy Autosomal Recessive Isolated Optic Atrophy ACO2 autosomal recessive lymphoproliferative disease autosomal_recessive_lymphoproliferative_disease Autosomal Recessive Lymphoproliferative Disease ITK autosomal recessive lymphoproliferative disease autosomal_recessive_lymphoproliferative_disease Autosomal Recessive Lymphoproliferative Disease CD27 autosomal recessive malignant osteopetrosis autosomal_recessive_malignant_osteopetrosis Autosomal Recessive Malignant Osteopetrosis TNFSF11 autosomal recessive malignant osteopetrosis autosomal_recessive_malignant_osteopetrosis Autosomal Recessive Malignant Osteopetrosis CLCN7 autosomal recessive malignant osteopetrosis autosomal_recessive_malignant_osteopetrosis Autosomal Recessive Malignant Osteopetrosis SNX10 autosomal recessive myogenic arthrogryposis multiplex congenita autosomal_recessive_myogenic_arthrogryposis_multiplex_congenita Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita SYNE1 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability FRRS1L DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability DCPS DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability CRADD DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability HNMT DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability FMN2 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability LINS1 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability EDC3 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability CLIP1 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability FBXO31 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability EZR DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability MED13L DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability SLC45A1 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability SARS DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability TNIK DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability WARS2 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability ZC3H14 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability WASHC4 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability PIGC DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability PGAP1 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability C12orf4 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability MBOAT7 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability MED25 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability METTL23 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability NDST1 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability LMAN2L DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability AIMP1 DOID:0060308 autosomal recessive non-syndromic intellectual disability autosomal_recessive_non_syndromic_intellectual_disability Autosomal Recessive Non-Syndromic Intellectual Disability B3GALNT2 DOID:0060308 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb PTPRQ autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb PNPT1 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb RDX autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb PJVK autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb S1PR2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb ROR1 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb RIPOR2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb OTOG autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb MYO7A autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb MYO6 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb OTOA autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb OTOF autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb OTOGL autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb SERPINB6 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb PCDH15 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb SLITRK6 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb TRIOBP autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb TPRN autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb TSPEAR autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb USH1C autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb WHRN autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb WBP2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb TMPRSS3 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb TMIE autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb STRC autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb MYO3A autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb SYNE4 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb TBC1D24 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb TMC1 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb TECTA autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb SLC26A5 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb MSRB3 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb COL11A2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb CLIC5 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb DCDC2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb ELMOD3 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb EPS8L2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb EPS8 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb CLDN14 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb CIB2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb BDP1 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb ADCY1 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb BSND autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb CABP2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb CDH23 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb CDC14A autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb MYO15A autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb ESPN autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb KARS autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb ILDR1 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb LHFPL5 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb LRTOMT autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb MET autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb MARVELD2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb ESRRB autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb HGF autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb GJB2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb GIPC3 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb GRXCR2 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb GJB3 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb GJB6 autosomal recessive non-syndromic sensorineural deafness type dfnb autosomal_recessive_non_syndromic_sensorineural_deafness_type_dfnb Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb GRXCR1 autosomal recessive severe congenital neutropenia due to cxcr2 deficiency autosomal_recessive_severe_congenital_neutropenia_due_to_cxcr2_deficiency Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency CXCR2 autosomal recessive sideroblastic anemia autosomal_recessive_sideroblastic_anemia Autosomal Recessive Sideroblastic Anemia SLC25A38 autosomal recessive sideroblastic anemia autosomal_recessive_sideroblastic_anemia Autosomal Recessive Sideroblastic Anemia HSPA9 autosomal recessive spastic paraplegia type 59 autosomal_recessive_spastic_paraplegia_type_59 Autosomal Recessive Spastic Paraplegia Type 59 USP8 autosomal recessive spastic paraplegia type 60 autosomal_recessive_spastic_paraplegia_type_60 Autosomal Recessive Spastic Paraplegia Type 60 WDR48 autosomal recessive spastic paraplegia type 66 autosomal_recessive_spastic_paraplegia_type_66 Autosomal Recessive Spastic Paraplegia Type 66 ARSI autosomal recessive spastic paraplegia type 67 autosomal_recessive_spastic_paraplegia_type_67 Autosomal Recessive Spastic Paraplegia Type 67 PGAP1 autosomal recessive spastic paraplegia type 68 autosomal_recessive_spastic_paraplegia_type_68 Autosomal Recessive Spastic Paraplegia Type 68 FLRT1 autosomal recessive spastic paraplegia type 69 autosomal_recessive_spastic_paraplegia_type_69 Autosomal Recessive Spastic Paraplegia Type 69 RAB3GAP2 autosomal recessive spastic paraplegia type 70 autosomal_recessive_spastic_paraplegia_type_70 Autosomal Recessive Spastic Paraplegia Type 70 MARS autosomal recessive spastic paraplegia type 71 autosomal_recessive_spastic_paraplegia_type_71 Autosomal Recessive Spastic Paraplegia Type 71 ZFR autosomal recessive stickler syndrome autosomal_recessive_stickler_syndrome Autosomal Recessive Stickler Syndrome COL11A1 autosomal semi-dominant severe lipodystrophic laminopathy autosomal_semi_dominant_severe_lipodystrophic_laminopathy Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy LMNA autosomal thrombocytopenia with normal platelets autosomal_thrombocytopenia_with_normal_platelets Autosomal Thrombocytopenia with Normal Platelets MASTL autosomal thrombocytopenia with normal platelets autosomal_thrombocytopenia_with_normal_platelets Autosomal Thrombocytopenia with Normal Platelets CYCS axin2-related attenuated familial adenomatous polyposis axin2_related_attenuated_familial_adenomatous_polyposis Axin2-Related Attenuated Familial Adenomatous Polyposis AXIN2 b-cell lymphomas b_cell_lymphomas B-Cell Lymphomas MIR20A DOID:707 b-cell lymphomas b_cell_lymphomas B-Cell Lymphomas MIR17 DOID:707 basal ganglia calcification, idiopathic, 1 basal_ganglia_calcification_idiopathic_1 Basal Ganglia Calcification, Idiopathic, 1 XPR1 basal ganglia calcification, idiopathic, 1 basal_ganglia_calcification_idiopathic_1 Basal Ganglia Calcification, Idiopathic, 1 PDGFRB basal ganglia calcification, idiopathic, 1 basal_ganglia_calcification_idiopathic_1 Basal Ganglia Calcification, Idiopathic, 1 PDGFB becker nevus syndrome becker_nevus_syndrome Becker Nevus Syndrome ACTB behavioral variant of frontotemporal dementia behavioral_variant_of_frontotemporal_dementia Behavioral Variant of Frontotemporal Dementia PSEN1 behavioral variant of frontotemporal dementia behavioral_variant_of_frontotemporal_dementia Behavioral Variant of Frontotemporal Dementia SQSTM1 benign adult familial myoclonic epilepsy benign_adult_familial_myoclonic_epilepsy Benign Adult Familial Myoclonic Epilepsy ADRA2B benign adult familial myoclonic epilepsy benign_adult_familial_myoclonic_epilepsy Benign Adult Familial Myoclonic Epilepsy CNTN2 benign adult familial myoclonic epilepsy benign_adult_familial_myoclonic_epilepsy Benign Adult Familial Myoclonic Epilepsy CTNND2 benign familial mesial temporal lobe epilepsy benign_familial_mesial_temporal_lobe_epilepsy Benign Familial Mesial Temporal Lobe Epilepsy CPA6 benign samaritan congenital myopathy benign_samaritan_congenital_myopathy Benign Samaritan Congenital Myopathy RYR1 bilateral multicystic dysplastic kidney bilateral_multicystic_dysplastic_kidney Bilateral Multicystic Dysplastic Kidney HNF1B bladder cancer bladder_cancer Bladder Cancer MIR127 DOID:4007 bladder cancer bladder_cancer Bladder Cancer MIR10B DOID:4007 bleeding disorder, east texas type bleeding_disorder_east_texas_type Bleeding Disorder, East Texas Type F5 blepharocheilodontic syndrome 1 blepharocheilodontic_syndrome_1 Blepharocheilodontic Syndrome 1 CTNND1 bohring-opitz syndrome bohring_opitz_syndrome Bohring-Opitz Syndrome KLHL7 bone marrow cancer bone_marrow_cancer Bone Marrow Cancer MIR155 DOID:4960 brachydactyly, type e1 brachydactyly_type_e1 Brachydactyly, Type E1 PTHLH DOID:0110972 brain cancer brain_cancer Brain Cancer MIR25 DOID:1319 breast cancer breast_cancer Breast Cancer MIR9-3 DOID:3459 breast cancer breast_cancer Breast Cancer MIR520C DOID:3459 breast cancer breast_cancer Breast Cancer MIR96 DOID:3459 breast cancer breast_cancer Breast Cancer MIR200A DOID:3459 breast cancer breast_cancer Breast Cancer MIR199B DOID:3459 breast cancer breast_cancer Breast Cancer MIR510 DOID:3459 breast cancer breast_cancer Breast Cancer MIR502 DOID:3459 breast cancer breast_cancer Breast Cancer MIR499A DOID:3459 breast cancer breast_cancer Breast Cancer MIR451A DOID:3459 breast cancer breast_cancer Breast Cancer MIR193B DOID:3459 breast cancer breast_cancer Breast Cancer MIR30E DOID:3459 breast cancer breast_cancer Breast Cancer MIR335 DOID:3459 breast cancer breast_cancer Breast Cancer MIR373 DOID:3459 breast cancer breast_cancer Breast Cancer MIR20A DOID:3459 breast cancer breast_cancer Breast Cancer MIR182 DOID:3459 breast cancer breast_cancer Breast Cancer MIR126 DOID:3459 breast cancer breast_cancer Breast Cancer MIR128-1 DOID:3459 breast cancer breast_cancer Breast Cancer MIR141 DOID:3459 breast cancer breast_cancer Breast Cancer MIR146B DOID:3459 brugada syndrome brugada_syndrome Brugada Syndrome CALM2 DOID:0050451 bullous diffuse cutaneous mastocytosis bullous_diffuse_cutaneous_mastocytosis Bullous Diffuse Cutaneous Mastocytosis KIT burkitt lymphoma burkitt_lymphoma Burkitt Lymphoma MIR34B DOID:8584 burkitt lymphoma burkitt_lymphoma Burkitt Lymphoma MIRLET7C DOID:8584 butterfly-shaped pigment dystrophy butterfly_shaped_pigment_dystrophy Butterfly-Shaped Pigment Dystrophy OTX2 caroli disease, isolated caroli_disease_isolated Caroli Disease, Isolated PKHD1 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYGS DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYGD DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types EPHA2 DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types GJA3 DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types PITX3 DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types MIP DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types HSF4 DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYGC DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYGB DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types BFSP2 DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYBA4 DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CHMP4B DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYAA DOID:0110250 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYBA1 DOID:0110250 cataract 24 cataract_24 Cataract 24 CRYGB DOID:0110257 cataract 24 cataract_24 Cataract 24 CRYBB3 DOID:0110257 cataract 24 cataract_24 Cataract 24 CRYBA2 DOID:0110257 cataract 24 cataract_24 Cataract 24 CRYAA DOID:0110257 cataract 25 cataract_25 Cataract 25 GJA8 DOID:0110254 cataract 25 cataract_25 Cataract 25 MIP DOID:0110254 cataract 25 cataract_25 Cataract 25 BFSP2 DOID:0110254 cataract 25 cataract_25 Cataract 25 CRYGS DOID:0110254 cataract 25 cataract_25 Cataract 25 CRYBB2 DOID:0110254 cataract 25 cataract_25 Cataract 25 CRYBA1 DOID:0110254 cataract 29 cataract_29 Cataract 29 CRYGD DOID:0110232 cataract 30, multiple types cataract_30_multiple_types Cataract 30, Multiple Types GJA3 cataract 30, multiple types cataract_30_multiple_types Cataract 30, Multiple Types GJA8 cataract 30, multiple types cataract_30_multiple_types Cataract 30, Multiple Types MAF cataract 30, multiple types cataract_30_multiple_types Cataract 30, Multiple Types CRYGD cataract 30, multiple types cataract_30_multiple_types Cataract 30, Multiple Types CRYGC cataract 30, multiple types cataract_30_multiple_types Cataract 30, Multiple Types BFSP2 cataract 30, multiple types cataract_30_multiple_types Cataract 30, Multiple Types CRYBB1 cataract 30, multiple types cataract_30_multiple_types Cataract 30, Multiple Types CRYBB2 cataract 44 cataract_44 Cataract 44 HSF4 DOID:0110267 cataract 44 cataract_44 Cataract 44 GJA8 DOID:0110267 cataract 44 cataract_44 Cataract 44 LEMD2 DOID:0110267 cataract 44 cataract_44 Cataract 44 LIM2 DOID:0110267 cataract 44 cataract_44 Cataract 44 SIPA1L3 DOID:0110267 cataract 44 cataract_44 Cataract 44 MIP DOID:0110267 cataract 44 cataract_44 Cataract 44 GCNT2 DOID:0110267 cataract 44 cataract_44 Cataract 44 CRYAA DOID:0110267 cataract 44 cataract_44 Cataract 44 AGK DOID:0110267 cataract 44 cataract_44 Cataract 44 FYCO1 DOID:0110267 cataract 44 cataract_44 Cataract 44 CRYBB2 DOID:0110267 cataract 44 cataract_44 Cataract 44 CRYGB DOID:0110267 cataract 44 cataract_44 Cataract 44 EPHA2 DOID:0110267 cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYGD cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYGC cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYBA4 cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYBB2 cataract-glaucoma cataract_glaucoma Cataract-Glaucoma PITX3 cenani-lenz syndactyly syndrome cenani_lenz_syndactyly_syndrome Cenani-Lenz Syndactyly Syndrome APC DOID:0090015 centripetalis recessive dystrophic epidermolysis bullosa centripetalis_recessive_dystrophic_epidermolysis_bullosa Centripetalis Recessive Dystrophic Epidermolysis Bullosa COL7A1 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 cerebellar_ataxia_mental_retardation_and_dysequilibrium_syndrome_1 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 WDR81 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 cerebellar_ataxia_mental_retardation_and_dysequilibrium_syndrome_1 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 TUBB2B cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 cerebellar_ataxia_mental_retardation_and_dysequilibrium_syndrome_1 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 CA8 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 cerebellar_ataxia_mental_retardation_and_dysequilibrium_syndrome_1 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 ATP8A2 cervical spina bifida aperta cervical_spina_bifida_aperta Cervical Spina Bifida Aperta FUZ cervical spina bifida cystica cervical_spina_bifida_cystica Cervical Spina Bifida Cystica FUZ cervicothoracic spina bifida aperta cervicothoracic_spina_bifida_aperta Cervicothoracic Spina Bifida Aperta FUZ cervicothoracic spina bifida cystica cervicothoracic_spina_bifida_cystica Cervicothoracic Spina Bifida Cystica FUZ chiari malformation type ii chiari_malformation_type_ii Chiari Malformation Type Ii FUZ childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy TPM2 childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy TPM3 childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy NEB childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy MYPN childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy KBTBD13 childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy KLHL41 childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy ACTA1 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome childhood_onset_progressive_contractures_limb_girdle_weakness_muscle_dystrophy_syndrome Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome TTN cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma MIR148A DOID:4947 cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma MIR320A DOID:4947 cholestasis, progressive familial intrahepatic, 1 cholestasis_progressive_familial_intrahepatic_1_2 Cholestasis, Progressive Familial Intrahepatic, 1 MYO5B cholesteatoma of middle ear cholesteatoma_of_middle_ear Cholesteatoma of Middle Ear MIR21 DOID:869 chondrodysplasia-pseudohermaphroditism syndrome chondrodysplasia_pseudohermaphroditism_syndrome Chondrodysplasia-Pseudohermaphroditism Syndrome HHAT DOID:0060644 chondrodysplasia, grebe type chondrodysplasia_grebe_type Chondrodysplasia, Grebe Type BMPR1B DOID:0080052 chorea, benign hereditary chorea_benign_hereditary Chorea, Benign Hereditary ADCY5 chromosome 5q12 deletion syndrome chromosome_5q12_deletion_syndrome Chromosome 5q12 Deletion Syndrome PDE4D DOID:0060421 chromosome 8p11 myeloproliferative syndrome chromosome_8p11_myeloproliferative_syndrome Chromosome 8p11 Myeloproliferative Syndrome FGFR1 chronic enteropathy associated with slco2a1 gene chronic_enteropathy_associated_with_slco2a1_gene Chronic Enteropathy Associated with Slco2a1 Gene SLCO2A1 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form classic_congenital_adrenal_hyperplasia_due_to_21_hydroxylase_deficiency_salt_wasting_form Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form CYP21A2 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form classic_congenital_adrenal_hyperplasia_due_to_21_hydroxylase_deficiency_simple_virilizing_form Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form CYP21A2 classic congenital lipoid adrenal hyperplasia due to star deficency classic_congenital_lipoid_adrenal_hyperplasia_due_to_star_deficency Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency STAR classic hairy cell leukemia classic_hairy_cell_leukemia Classic Hairy Cell Leukemia BRAF classic mast cell leukemia classic_mast_cell_leukemia Classic Mast Cell Leukemia KIT clcn4-related x-linked intellectual disability syndrome clcn4_related_x_linked_intellectual_disability_syndrome Clcn4-Related X-Linked Intellectual Disability Syndrome CLCN4 coach syndrome coach_syndrome Coach Syndrome INPP5E cockayne syndrome type i cockayne_syndrome_type_i Cockayne Syndrome Type I ERCC6 cockayne syndrome type i cockayne_syndrome_type_i Cockayne Syndrome Type I ERCC4 cockayne syndrome type ii cockayne_syndrome_type_ii Cockayne Syndrome Type Ii ERCC8 cockayne syndrome type ii cockayne_syndrome_type_ii Cockayne Syndrome Type Ii ERCC1 cockayne syndrome type iii cockayne_syndrome_type_iii Cockayne Syndrome Type Iii ERCC8 cockayne syndrome type iii cockayne_syndrome_type_iii Cockayne Syndrome Type Iii ERCC6 coloboma of eye lens coloboma_of_eye_lens Coloboma of Eye Lens SALL2 coloboma of eye lens coloboma_of_eye_lens Coloboma of Eye Lens PAX6 coloboma of eye lens coloboma_of_eye_lens Coloboma of Eye Lens FZD5 coloboma of eye lens coloboma_of_eye_lens Coloboma of Eye Lens ABCB6 coloboma of eyelid coloboma_of_eyelid Coloboma of Eyelid SALL2 coloboma of eyelid coloboma_of_eyelid Coloboma of Eyelid PAX6 coloboma of eyelid coloboma_of_eyelid Coloboma of Eyelid FZD5 coloboma of eyelid coloboma_of_eyelid Coloboma of Eyelid ABCB6 coloboma of optic nerve coloboma_of_optic_nerve Coloboma of Optic Nerve SALL2 DOID:11975 coloboma of optic nerve coloboma_of_optic_nerve Coloboma of Optic Nerve FZD5 DOID:11975 coloboma of optic nerve coloboma_of_optic_nerve Coloboma of Optic Nerve ABCB6 DOID:11975 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant SALL2 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant FZD5 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant ABCB6 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant ACTG1 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia VSX2 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia ABCB6 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia RBP4 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia GDF3 colorectal cancer colorectal_cancer Colorectal Cancer MIR451A DOID:9256 colorectal cancer colorectal_cancer Colorectal Cancer MIR34B DOID:9256 colorectal cancer colorectal_cancer Colorectal Cancer MIRLET7A1 DOID:9256 colorectal cancer colorectal_cancer Colorectal Cancer MIR100 DOID:9256 colorectal cancer colorectal_cancer Colorectal Cancer MIR342 DOID:9256 colorectal cancer colorectal_cancer Colorectal Cancer MIR26A1 DOID:9256 colorectal cancer colorectal_cancer Colorectal Cancer MIR192 DOID:9256 colorectal cancer colorectal_cancer Colorectal Cancer MIR127 DOID:9256 colorectal cancer colorectal_cancer Colorectal Cancer MIR140 DOID:9256 colorectal cancer colorectal_cancer Colorectal Cancer MIR215 DOID:9256 colorectal cancer colorectal_cancer Colorectal Cancer MIR141 DOID:9256 combined oxidative phosphorylation deficiency 19 combined_oxidative_phosphorylation_deficiency_19 Combined Oxidative Phosphorylation Deficiency 19 NFS1 combined pituitary hormone deficiencies, genetic forms combined_pituitary_hormone_deficiencies_genetic_forms Combined Pituitary Hormone Deficiencies, Genetic Forms POU1F1 combined pituitary hormone deficiencies, genetic forms combined_pituitary_hormone_deficiencies_genetic_forms Combined Pituitary Hormone Deficiencies, Genetic Forms OTX2 combined pituitary hormone deficiencies, genetic forms combined_pituitary_hormone_deficiencies_genetic_forms Combined Pituitary Hormone Deficiencies, Genetic Forms HESX1 combined pituitary hormone deficiencies, genetic forms combined_pituitary_hormone_deficiencies_genetic_forms Combined Pituitary Hormone Deficiencies, Genetic Forms GLI2 combined pituitary hormone deficiencies, genetic forms combined_pituitary_hormone_deficiencies_genetic_forms Combined Pituitary Hormone Deficiencies, Genetic Forms LHX4 complement factor h deficiency complement_factor_h_deficiency Complement Factor H Deficiency CFHR1 complete atrioventricular canal-left heart obstruction syndrome complete_atrioventricular_canal_left_heart_obstruction_syndrome Complete Atrioventricular Canal-Left Heart Obstruction Syndrome GATA4 complete atrioventricular canal-tetralogy of fallot syndrome complete_atrioventricular_canal_tetralogy_of_fallot_syndrome Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome GATA4 complete atrioventricular canal-ventricle hypoplasia syndrome complete_atrioventricular_canal_ventricle_hypoplasia_syndrome Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome GATA4 complete atrioventricular canal-ventricle hypoplasia syndrome complete_atrioventricular_canal_ventricle_hypoplasia_syndrome Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome GATA6 cone-rod dystrophy 6 cone_rod_dystrophy_6 Cone-Rod Dystrophy 6 GNAT2 DOID:0111011 cone-rod dystrophy 6 cone_rod_dystrophy_6 Cone-Rod Dystrophy 6 GUCA1A DOID:0111011 cone-rod dystrophy 6 cone_rod_dystrophy_6 Cone-Rod Dystrophy 6 CNGB3 DOID:0111011 cone-rod dystrophy 6 cone_rod_dystrophy_6 Cone-Rod Dystrophy 6 PDE6C DOID:0111011 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome congenital_cataract_hypertrophic_cardiomyopathy_mitochondrial_myopathy_syndrome Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome SLC25A4 congenital communicating hydrocephalus congenital_communicating_hydrocephalus Congenital Communicating Hydrocephalus MPDZ congenital cornea plana congenital_cornea_plana Congenital Cornea Plana KERA congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion MYL2 DOID:0080102 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion MAP3K20 DOID:0080102 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion HACD1 DOID:0080102 congenital generalized hypercontractile muscle stiffness syndrome congenital_generalized_hypercontractile_muscle_stiffness_syndrome Congenital Generalized Hypercontractile Muscle Stiffness Syndrome TPM3 congenital hereditary endothelial dystrophy type i congenital_hereditary_endothelial_dystrophy_type_i Congenital Hereditary Endothelial Dystrophy Type I OVOL2 congenital hereditary facial paralysis-variable hearing loss syndrome congenital_hereditary_facial_paralysis_variable_hearing_loss_syndrome Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome HOXB1 congenital insensitivity to pain with severe intellectual disability congenital_insensitivity_to_pain_with_severe_intellectual_disability Congenital Insensitivity to Pain with Severe Intellectual Disability CLTCL1 congenital muscular dystrophy with cerebellar involvement congenital_muscular_dystrophy_with_cerebellar_involvement Congenital Muscular Dystrophy with Cerebellar Involvement POMT1 congenital muscular dystrophy with cerebellar involvement congenital_muscular_dystrophy_with_cerebellar_involvement Congenital Muscular Dystrophy with Cerebellar Involvement POMT2 congenital muscular dystrophy with cerebellar involvement congenital_muscular_dystrophy_with_cerebellar_involvement Congenital Muscular Dystrophy with Cerebellar Involvement POMK congenital muscular dystrophy with cerebellar involvement congenital_muscular_dystrophy_with_cerebellar_involvement Congenital Muscular Dystrophy with Cerebellar Involvement POMGNT1 congenital muscular dystrophy with cerebellar involvement congenital_muscular_dystrophy_with_cerebellar_involvement Congenital Muscular Dystrophy with Cerebellar Involvement GMPPB congenital muscular dystrophy with cerebellar involvement congenital_muscular_dystrophy_with_cerebellar_involvement Congenital Muscular Dystrophy with Cerebellar Involvement FKRP congenital muscular dystrophy with intellectual disability congenital_muscular_dystrophy_with_intellectual_disability Congenital Muscular Dystrophy with Intellectual Disability POMT2 congenital muscular dystrophy with intellectual disability congenital_muscular_dystrophy_with_intellectual_disability Congenital Muscular Dystrophy with Intellectual Disability POMT1 congenital muscular dystrophy with intellectual disability congenital_muscular_dystrophy_with_intellectual_disability Congenital Muscular Dystrophy with Intellectual Disability LARGE1 congenital muscular dystrophy with intellectual disability congenital_muscular_dystrophy_with_intellectual_disability Congenital Muscular Dystrophy with Intellectual Disability GMPPB congenital muscular dystrophy with intellectual disability congenital_muscular_dystrophy_with_intellectual_disability Congenital Muscular Dystrophy with Intellectual Disability FKRP congenital muscular dystrophy without intellectual disability congenital_muscular_dystrophy_without_intellectual_disability Congenital Muscular Dystrophy Without Intellectual Disability POMT1 congenital muscular dystrophy without intellectual disability congenital_muscular_dystrophy_without_intellectual_disability Congenital Muscular Dystrophy Without Intellectual Disability ISPD congenital muscular dystrophy without intellectual disability congenital_muscular_dystrophy_without_intellectual_disability Congenital Muscular Dystrophy Without Intellectual Disability FKTN congenital muscular dystrophy without intellectual disability congenital_muscular_dystrophy_without_intellectual_disability Congenital Muscular Dystrophy Without Intellectual Disability FKRP congenital myasthenic syndromes with glycosylation defect congenital_myasthenic_syndromes_with_glycosylation_defect Congenital Myasthenic Syndromes with Glycosylation Defect GMPPB congenital myasthenic syndromes with glycosylation defect congenital_myasthenic_syndromes_with_glycosylation_defect Congenital Myasthenic Syndromes with Glycosylation Defect GFPT1 congenital myasthenic syndromes with glycosylation defect congenital_myasthenic_syndromes_with_glycosylation_defect Congenital Myasthenic Syndromes with Glycosylation Defect DPAGT1 congenital myasthenic syndromes with glycosylation defect congenital_myasthenic_syndromes_with_glycosylation_defect Congenital Myasthenic Syndromes with Glycosylation Defect ALG2 congenital myasthenic syndromes with glycosylation defect congenital_myasthenic_syndromes_with_glycosylation_defect Congenital Myasthenic Syndromes with Glycosylation Defect ALG14 congenital myopathy with myasthenic-like onset congenital_myopathy_with_myasthenic_like_onset Congenital Myopathy with Myasthenic-Like Onset RYR1 congenital myopathy, paradas type congenital_myopathy_paradas_type Congenital Myopathy, Paradas Type DYSF congenital non-communicating hydrocephalus congenital_non_communicating_hydrocephalus Congenital Non-Communicating Hydrocephalus CCDC88C congenital sialidosis type 2 congenital_sialidosis_type_2 Congenital Sialidosis Type 2 NEU1 congenital sucrase-isomaltase deficiency with minimal starch tolerance congenital_sucrase_isomaltase_deficiency_with_minimal_starch_tolerance Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance SI congenital sucrase-isomaltase deficiency with starch and lactose intolerance congenital_sucrase_isomaltase_deficiency_with_starch_and_lactose_intolerance Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance SI congenital sucrase-isomaltase deficiency with starch intolerance congenital_sucrase_isomaltase_deficiency_with_starch_intolerance Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance SI congenital sucrase-isomaltase deficiency without starch intolerance congenital_sucrase_isomaltase_deficiency_without_starch_intolerance Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance SI congenital sucrase-isomaltase deficiency without sucrose intolerance congenital_sucrase_isomaltase_deficiency_without_sucrose_intolerance Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance SI congenital vertical talus, bilateral congenital_vertical_talus_bilateral Congenital Vertical Talus, Bilateral HOXD10 congenital vertical talus, unilateral congenital_vertical_talus_unilateral Congenital Vertical Talus, Unilateral HOXD10 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations PLXND1 convulsions, familial infantile, with paroxysmal choreoathetosis convulsions_familial_infantile_with_paroxysmal_choreoathetosis Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis SCN8A coronary artery anomaly coronary_artery_anomaly Coronary Artery Anomaly MIR17 DOID:3393 coronary artery anomaly coronary_artery_anomaly Coronary Artery Anomaly MIR182 DOID:3393 coronary artery anomaly coronary_artery_anomaly Coronary Artery Anomaly MIR208A DOID:3393 coronary artery anomaly coronary_artery_anomaly Coronary Artery Anomaly MIR92B DOID:3393 coronary artery anomaly coronary_artery_anomaly Coronary Artery Anomaly MIR145 DOID:3393 coronary artery anomaly coronary_artery_anomaly Coronary Artery Anomaly MIR155 DOID:3393 corpus callosum, agenesis of, with facial anomalies and robin sequence corpus_callosum_agenesis_of_with_facial_anomalies_and_robin_sequence Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence DDX3X cowden disease cowden_disease Cowden Disease MIR21 DOID:6457 cowden disease cowden_disease Cowden Disease MIR19A DOID:6457 craniorachischisis craniorachischisis Craniorachischisis DACT1 crisponi/cold-induced sweating syndrome 1 crisponi_cold_induced_sweating_syndrome_1 Crisponi/cold-Induced Sweating Syndrome 1 CLCF1 crouzon syndrome crouzon_syndrome Crouzon Syndrome ERF DOID:2339 cryptogenic multifocal ulcerous stenosing enteritis cryptogenic_multifocal_ulcerous_stenosing_enteritis Cryptogenic Multifocal Ulcerous Stenosing Enteritis PLA2G4A cushing syndrome due to macronodular adrenal hyperplasia cushing_syndrome_due_to_macronodular_adrenal_hyperplasia Cushing Syndrome Due to Macronodular Adrenal Hyperplasia GNAS cushing syndrome due to macronodular adrenal hyperplasia cushing_syndrome_due_to_macronodular_adrenal_hyperplasia Cushing Syndrome Due to Macronodular Adrenal Hyperplasia ARMC5 cutaneous mastocytoma cutaneous_mastocytoma Cutaneous Mastocytoma KIT cutis laxa, autosomal dominant 1 cutis_laxa_autosomal_dominant_1 Cutis Laxa, Autosomal Dominant 1 ALDH18A1 DOID:0070142 cytomegalic congenital adrenal hypoplasia cytomegalic_congenital_adrenal_hypoplasia Cytomegalic Congenital Adrenal Hypoplasia NR0B1 cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder cytosolic_phospholipase_a2_alpha_deficiency_associated_bleeding_disorder Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder PLA2G4A deafness enamel hypoplasia nail defects deafness_enamel_hypoplasia_nail_defects Deafness Enamel Hypoplasia Nail Defects PEX6 deafness, aminoglycoside-induced deafness_aminoglycoside_induced Deafness, Aminoglycoside-Induced MT-CO1 dentin dysplasia, type i dentin_dysplasia_type_i Dentin Dysplasia, Type I VPS4B dentin dysplasia, type i dentin_dysplasia_type_i Dentin Dysplasia, Type I DSPP dentinogenesis imperfecta type 2 dentinogenesis_imperfecta_type_2 Dentinogenesis Imperfecta Type 2 DSPP dermatitis, atopic dermatitis_atopic Dermatitis, Atopic MIR155 DOID:3310 desmoid disease, hereditary desmoid_disease_hereditary Desmoid Disease, Hereditary CTNNB1 developmental delay-deafness syndrome, hildebrand type developmental_delay_deafness_syndrome_hildebrand_type Developmental Delay-Deafness Syndrome, Hildebrand Type POU3F4 dextrocardia with situs inversus dextrocardia_with_situs_inversus Dextrocardia with Situs Inversus NME7 dextrocardia with situs inversus dextrocardia_with_situs_inversus Dextrocardia with Situs Inversus NODAL dextrocardia with situs inversus dextrocardia_with_situs_inversus Dextrocardia with Situs Inversus MMP21 dextrocardia with situs inversus dextrocardia_with_situs_inversus Dextrocardia with Situs Inversus CFAP53 dextrocardia with situs inversus dextrocardia_with_situs_inversus Dextrocardia with Situs Inversus ANKS3 dextrocardia with situs inversus dextrocardia_with_situs_inversus Dextrocardia with Situs Inversus CFAP52 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR197 DOID:9351 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR145 DOID:9351 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR155 DOID:9351 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR99A DOID:9351 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR30E DOID:9351 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR140 DOID:9351 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR132 DOID:9351 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR134 DOID:9351 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent MIR29A DOID:9352 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent MIR29C DOID:9352 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent MIR657 DOID:9352 diabetes mellitus, permanent neonatal diabetes_mellitus_permanent_neonatal Diabetes Mellitus, Permanent Neonatal STAT3 DOID:0060639 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL18 DOID:1339 diarrhea 8, secretory sodium, congenital diarrhea_8_secretory_sodium_congenital Diarrhea 8, Secretory Sodium, Congenital SPINT2 DOID:0060777 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma PAX8 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma NTRK3 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma NRAS differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma PCM1 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma NTRK1 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma PPARG differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma TRIM27 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma TRIM24 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma TPR differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma TFG differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma NDUFA13 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma NCOA4 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma ERC1 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma EIF1AX differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma CCDC6 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma ALK differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma ETV6 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma GAS8-AS1 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma LPAR4 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma KRAS differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma HRAS differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma GOLGA5 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma TRIM33 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma RET diffuse large b-cell lymphoma diffuse_large_b_cell_lymphoma Diffuse Large B-Cell Lymphoma MIR143 DOID:0050745 digital anomalies-intellectual disability-short stature syndrome digital_anomalies_intellectual_disability_short_stature_syndrome Digital Anomalies-Intellectual Disability-Short Stature Syndrome EBP digitotalar dysmorphism digitotalar_dysmorphism Digitotalar Dysmorphism TPM2 digitotalar dysmorphism digitotalar_dysmorphism Digitotalar Dysmorphism TNNI2 digitotalar dysmorphism digitotalar_dysmorphism Digitotalar Dysmorphism MYH3 digitotalar dysmorphism digitotalar_dysmorphism Digitotalar Dysmorphism MYBPC1 digitotalar dysmorphism digitotalar_dysmorphism Digitotalar Dysmorphism NALCN distal hereditary motor neuropathy type 7 distal_hereditary_motor_neuropathy_type_7 Distal Hereditary Motor Neuropathy Type 7 SLC5A7 distal hereditary motor neuropathy type 7 distal_hereditary_motor_neuropathy_type_7 Distal Hereditary Motor Neuropathy Type 7 DCTN1 distal hereditary motor neuropathy, type ii distal_hereditary_motor_neuropathy_type_ii Distal Hereditary Motor Neuropathy, Type Ii HSPB1 distal hereditary motor neuropathy, type ii distal_hereditary_motor_neuropathy_type_ii Distal Hereditary Motor Neuropathy, Type Ii FBXO38 distal hereditary motor neuropathy, type ii distal_hereditary_motor_neuropathy_type_ii Distal Hereditary Motor Neuropathy, Type Ii HSPB3 dnajb2-related charcot-marie-tooth disease type 2 dnajb2_related_charcot_marie_tooth_disease_type_2 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 DNAJB2 dominant dystrophic epidermolysis bullosa, nails only dominant_dystrophic_epidermolysis_bullosa_nails_only Dominant Dystrophic Epidermolysis Bullosa, Nails Only COL7A1 dominant hypophosphatemia with nephrolithiasis or osteoporosis dominant_hypophosphatemia_with_nephrolithiasis_or_osteoporosis Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis SLC9A3R1 dominant hypophosphatemia with nephrolithiasis or osteoporosis dominant_hypophosphatemia_with_nephrolithiasis_or_osteoporosis Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis SLC34A1 dyskeratosis congenita, autosomal dominant 6 dyskeratosis_congenita_autosomal_dominant_6 Dyskeratosis Congenita, Autosomal Dominant 6 THPO DOID:0070023 dyskeratosis congenita, autosomal dominant 6 dyskeratosis_congenita_autosomal_dominant_6 Dyskeratosis Congenita, Autosomal Dominant 6 MPL DOID:0070023 early myoclonic encephalopathy early_myoclonic_encephalopathy Early Myoclonic Encephalopathy SIK1 DOID:308 early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation early_onset_epileptic_encephalopathy_and_intellectual_disability_due_to_grin2a_mutation Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation GRIN2A early-onset generalized limb-onset dystonia early_onset_generalized_limb_onset_dystonia Early-Onset Generalized Limb-Onset Dystonia TOR1A early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract GJA3 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract FYCO1 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract EPHA2 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract GJA8 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract MIP early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract WFS1 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract UNC45B early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract NHS early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYGD early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYGC early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYBA1 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYAB early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYAA early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYBA2 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYBB1 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYBB3 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYBB2 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract BFSP1 early-onset posterior subcapsular cataract early_onset_posterior_subcapsular_cataract Early-Onset Posterior Subcapsular Cataract UNC45B early-onset posterior subcapsular cataract early_onset_posterior_subcapsular_cataract Early-Onset Posterior Subcapsular Cataract LEMD2 early-onset posterior subcapsular cataract early_onset_posterior_subcapsular_cataract Early-Onset Posterior Subcapsular Cataract EPHA2 early-onset posterior subcapsular cataract early_onset_posterior_subcapsular_cataract Early-Onset Posterior Subcapsular Cataract CRYBB2 early-onset posterior subcapsular cataract early_onset_posterior_subcapsular_cataract Early-Onset Posterior Subcapsular Cataract CHMP4B early-onset, autosomal dominant alzheimer disease early_onset_autosomal_dominant_alzheimer_disease_2 Early-Onset, Autosomal Dominant Alzheimer Disease SORL1 ectodermal dysplasia 1, hypohidrotic, x-linked ectodermal_dysplasia_1_hypohidrotic_x_linked Ectodermal Dysplasia 1, Hypohidrotic, X-Linked EDA2R ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant ectodermal_dysplasia_10a_hypohidrotic_hair_nail_type_autosomal_dominant Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant TRAF6 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant ectodermal_dysplasia_10a_hypohidrotic_hair_nail_type_autosomal_dominant Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant KDF1 ectodermal dysplasia 4, hair/nail type ectodermal_dysplasia_4_hair_nail_type Ectodermal Dysplasia 4, Hair/nail Type KRT74 ectodermal dysplasia 4, hair/nail type ectodermal_dysplasia_4_hair_nail_type Ectodermal Dysplasia 4, Hair/nail Type HOXC13 ehlers-danlos syndrome type 7b ehlers_danlos_syndrome_type_7b Ehlers-Danlos Syndrome Type 7b COL1A2 ehlers-danlos syndrome, cardiac valvular type ehlers_danlos_syndrome_cardiac_valvular_type Ehlers-Danlos Syndrome, Cardiac Valvular Type FLNA ehlers-danlos syndrome, classic type, 2 ehlers_danlos_syndrome_classic_type_2 Ehlers-Danlos Syndrome, Classic Type, 2 COL5A1 ehlers-danlos syndrome, classic type, 2 ehlers_danlos_syndrome_classic_type_2 Ehlers-Danlos Syndrome, Classic Type, 2 COL1A1 ehlers-danlos syndrome, vascular type ehlers_danlos_syndrome_vascular_type Ehlers-Danlos Syndrome, Vascular Type COL5A1 DOID:14756 ehlers-danlos syndrome, vascular-like type ehlers_danlos_syndrome_vascular_like_type Ehlers-Danlos Syndrome, Vascular-Like Type COL1A1 ehlers-danlos/osteogenesis imperfecta syndrome ehlers_danlos_osteogenesis_imperfecta_syndrome Ehlers-Danlos/osteogenesis Imperfecta Syndrome COL1A2 ehlers-danlos/osteogenesis imperfecta syndrome ehlers_danlos_osteogenesis_imperfecta_syndrome Ehlers-Danlos/osteogenesis Imperfecta Syndrome COL1A1 emery-dreifuss muscular dystrophy 2, autosomal dominant emery_dreifuss_muscular_dystrophy_2_autosomal_dominant Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant TMEM43 emery-dreifuss muscular dystrophy 2, autosomal dominant emery_dreifuss_muscular_dystrophy_2_autosomal_dominant Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant SYNE2 emery-dreifuss muscular dystrophy 2, autosomal dominant emery_dreifuss_muscular_dystrophy_2_autosomal_dominant Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant SYNE1 emery-dreifuss muscular dystrophy, x-linked emery_dreifuss_muscular_dystrophy_x_linked Emery-Dreifuss Muscular Dystrophy, X-Linked FHL1 emilin-1-related connective tissue disease emilin_1_related_connective_tissue_disease Emilin-1-Related Connective Tissue Disease EMILIN1 endometrial cancer endometrial_cancer Endometrial Cancer MIR200C DOID:2871 epidermolysis bullosa simplex with pyloric atresia epidermolysis_bullosa_simplex_with_pyloric_atresia Epidermolysis Bullosa Simplex with Pyloric Atresia ITGB4 epidermolysis bullosa, lethal acantholytic epidermolysis_bullosa_lethal_acantholytic Epidermolysis Bullosa, Lethal Acantholytic JUP epilepsy, familial focal, with variable foci 1 epilepsy_familial_focal_with_variable_foci_1_2 Epilepsy, Familial Focal, with Variable Foci 1 NPRL3 epilepsy, familial focal, with variable foci 1 epilepsy_familial_focal_with_variable_foci_1_2 Epilepsy, Familial Focal, with Variable Foci 1 NPRL2 epilepsy, pyridoxine-dependent epilepsy_pyridoxine_dependent Epilepsy, Pyridoxine-Dependent SLC13A5 epilepsy, pyridoxine-dependent epilepsy_pyridoxine_dependent Epilepsy, Pyridoxine-Dependent PLPBP epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 CASK DOID:0050709 epileptic encephalopathy, early infantile, 15 epileptic_encephalopathy_early_infantile_15 Epileptic Encephalopathy, Early Infantile, 15 PIGP DOID:0050709 epiphyseal dysplasia, microcephaly, and nystagmus epiphyseal_dysplasia_microcephaly_and_nystagmus Epiphyseal Dysplasia, Microcephaly, and Nystagmus RNU4ATAC episodic kinesigenic dyskinesia 1 episodic_kinesigenic_dyskinesia_1 Episodic Kinesigenic Dyskinesia 1 KCNA1 DOID:0090053 erythrocyte galactose epimerase deficiency erythrocyte_galactose_epimerase_deficiency Erythrocyte Galactose Epimerase Deficiency GALE erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige erythroderma_congenital_with_palmoplantar_keratoderma_hypotrichosis_and_hyper_ige_2 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige DSP erythroderma, ichthyosiform, congenital reticular erythroderma_ichthyosiform_congenital_reticular Erythroderma, Ichthyosiform, Congenital Reticular KRT1 erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia_variabilis_et_progressiva_1 Erythrokeratodermia Variabilis Et Progressiva 1 KDSR DOID:0050467 erythrokeratodermia variabilis et progressiva 5 erythrokeratodermia_variabilis_et_progressiva_5 Erythrokeratodermia Variabilis Et Progressiva 5 KDSR DOID:0080251 esophageal cancer esophageal_cancer Esophageal Cancer MIR106A DOID:5041 esophageal cancer esophageal_cancer Esophageal Cancer MIR148A DOID:5041 esophagus squamous cell carcinoma esophagus_squamous_cell_carcinoma Esophagus Squamous Cell Carcinoma MIR145 DOID:3748 esophagus squamous cell carcinoma esophagus_squamous_cell_carcinoma Esophagus Squamous Cell Carcinoma MIR296 DOID:3748 exostoses, multiple, type i exostoses_multiple_type_i Exostoses, Multiple, Type I EXT2 external auditory canal aplasia/hypoplasia external_auditory_canal_aplasia_hypoplasia External Auditory Canal Aplasia/hypoplasia TSHZ1 extraskeletal ewing sarcoma extraskeletal_ewing_sarcoma Extraskeletal Ewing Sarcoma ERG extraskeletal ewing sarcoma extraskeletal_ewing_sarcoma Extraskeletal Ewing Sarcoma FLI1 familial alzheimer-like prion disease familial_alzheimer_like_prion_disease Familial Alzheimer-Like Prion Disease PRNP familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation NUP155 DOID:0050650 familial avascular necrosis of the femoral head familial_avascular_necrosis_of_the_femoral_head Familial Avascular Necrosis of the Femoral Head TRPV4 familial avascular necrosis of the femoral head familial_avascular_necrosis_of_the_femoral_head Familial Avascular Necrosis of the Femoral Head COL2A1 familial bicuspid aortic valve familial_bicuspid_aortic_valve Familial Bicuspid Aortic Valve SMAD6 familial bicuspid aortic valve familial_bicuspid_aortic_valve Familial Bicuspid Aortic Valve GATA5 familial bicuspid aortic valve familial_bicuspid_aortic_valve Familial Bicuspid Aortic Valve NKX2-5 familial cerebral saccular aneurysm familial_cerebral_saccular_aneurysm Familial Cerebral Saccular Aneurysm ANGPTL6 familial colorectal cancer type x familial_colorectal_cancer_type_x Familial Colorectal Cancer Type X RPS20 familial drusen familial_drusen Familial Drusen CFI familial drusen familial_drusen Familial Drusen CFH familial gastric type 1 neuroendocrine tumor familial_gastric_type_1_neuroendocrine_tumor Familial Gastric Type 1 Neuroendocrine Tumor ATP4A familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_proliferation Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation PTPRO familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_proliferation Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation NPHS1 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_sclerosis Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis PTPRO familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_sclerosis Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis WT1 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_sclerosis Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis PLCE1 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_sclerosis Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis NUP93 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_sclerosis Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis NPHS1 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_sclerosis Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis ARHGDIA familial idiopathic steroid-resistant nephrotic syndrome with minimal changes familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_minimal_changes Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes PTPRO familial idiopathic steroid-resistant nephrotic syndrome with minimal changes familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_minimal_changes Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes NPHS2 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_minimal_changes Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes NPHS1 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_minimal_changes Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes EMP2 familial infantile bilateral striatal necrosis familial_infantile_bilateral_striatal_necrosis Familial Infantile Bilateral Striatal Necrosis NUP62 familial infantile bilateral striatal necrosis familial_infantile_bilateral_striatal_necrosis Familial Infantile Bilateral Striatal Necrosis MT-ATP6 familial infantile bilateral striatal necrosis familial_infantile_bilateral_striatal_necrosis Familial Infantile Bilateral Striatal Necrosis ADAR familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form RYR2 familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form PKP2 familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form TGFB3 familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form TMEM43 familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form TTN familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form LMNA familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form LDB3 familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form DSC2 familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form DSG2 familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form DSP familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form JUP familial isolated arrhythmogenic ventricular dysplasia, biventricular form familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form CTNNA3 familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form RYR2 familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form PKP2 familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form TGFB3 familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form TMEM43 familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form TTN familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form LMNA familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form LDB3 familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form DSC2 familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form DSG2 familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form DSP familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form JUP familial isolated arrhythmogenic ventricular dysplasia, left dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form CTNNA3 familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form RYR2 familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form PKP2 familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form TGFB3 familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form TMEM43 familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form TTN familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form LMNA familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form LDB3 familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form DSC2 familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form DSG2 familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form DSP familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form JUP familial isolated arrhythmogenic ventricular dysplasia, right dominant form familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form CTNNA3 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy SCN5A familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy SDHA familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy SGCD familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy TAF1A familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy RBM20 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy RAF1 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy PRDM16 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy PSEN1 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy PSEN2 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy TAZ familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy TCAP familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy TTN familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy TXNRD2 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy VCL familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy TPM1 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy TNNT2 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy TMPO familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy TNNC1 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy TNNI3 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy PLN familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy NEXN familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy CSRP3 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy DES familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy DMD familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy DOLK familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy CRYAB familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy BAG3 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy ACTC1 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy ACTN2 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy ANKRD1 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy ABCC9 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy DSG2 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy MYH6 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy MYH7 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy MYPN familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy MYBPC3 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy LDB3 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy FKTN familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy FHL2 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy GATAD1 familial isolated dilated cardiomyopathy familial_isolated_dilated_cardiomyopathy Familial Isolated Dilated Cardiomyopathy LAMA4 familial isolated hypoparathyroidism due to agenesis of parathyroid gland familial_isolated_hypoparathyroidism_due_to_agenesis_of_parathyroid_gland Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland GCM2 familial isolated restrictive cardiomyopathy familial_isolated_restrictive_cardiomyopathy Familial Isolated Restrictive Cardiomyopathy TNNT2 familial isolated restrictive cardiomyopathy familial_isolated_restrictive_cardiomyopathy Familial Isolated Restrictive Cardiomyopathy TNNI3 familial isolated restrictive cardiomyopathy familial_isolated_restrictive_cardiomyopathy Familial Isolated Restrictive Cardiomyopathy MYPN familial isolated restrictive cardiomyopathy familial_isolated_restrictive_cardiomyopathy Familial Isolated Restrictive Cardiomyopathy KIF20A familial isolated restrictive cardiomyopathy familial_isolated_restrictive_cardiomyopathy Familial Isolated Restrictive Cardiomyopathy FLNC familial or sporadic hemiplegic migraine familial_or_sporadic_hemiplegic_migraine Familial or Sporadic Hemiplegic Migraine SCN1A familial or sporadic hemiplegic migraine familial_or_sporadic_hemiplegic_migraine Familial or Sporadic Hemiplegic Migraine CACNA1A familial or sporadic hemiplegic migraine familial_or_sporadic_hemiplegic_migraine Familial or Sporadic Hemiplegic Migraine PRRT2 familial papillary or follicular thyroid carcinoma familial_papillary_or_follicular_thyroid_carcinoma Familial Papillary or Follicular Thyroid Carcinoma FOXE1 familial papillary or follicular thyroid carcinoma familial_papillary_or_follicular_thyroid_carcinoma Familial Papillary or Follicular Thyroid Carcinoma HABP2 familial paroxysmal nonkinesigenic dyskinesia familial_paroxysmal_nonkinesigenic_dyskinesia Familial Paroxysmal Nonkinesigenic Dyskinesia PRRT2 familial partial lipodystrophy due to akt2 mutations familial_partial_lipodystrophy_due_to_akt2_mutations Familial Partial Lipodystrophy Due to Akt2 Mutations AKT2 familial patent arterial duct familial_patent_arterial_duct Familial Patent Arterial Duct TFAP2B familial patent arterial duct familial_patent_arterial_duct Familial Patent Arterial Duct PRDM6 familial porencephaly familial_porencephaly Familial Porencephaly COL4A1 familial primary hypomagnesemia with normocalciuria and normocalcemia familial_primary_hypomagnesemia_with_normocalciuria_and_normocalcemia Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia EGF familial primary hypomagnesemia with normocalciuria and normocalcemia familial_primary_hypomagnesemia_with_normocalciuria_and_normocalcemia Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia CNNM2 familial progressive cardiac conduction defect familial_progressive_cardiac_conduction_defect Familial Progressive Cardiac Conduction Defect SCN1B familial progressive cardiac conduction defect familial_progressive_cardiac_conduction_defect Familial Progressive Cardiac Conduction Defect TRPM4 familial short qt syndrome familial_short_qt_syndrome Familial Short Qt Syndrome CACNA2D1 familial sick sinus syndrome familial_sick_sinus_syndrome Familial Sick Sinus Syndrome HCN4 familial thyroid dyshormonogenesis familial_thyroid_dyshormonogenesis Familial Thyroid Dyshormonogenesis TPO familial thyroid dyshormonogenesis familial_thyroid_dyshormonogenesis Familial Thyroid Dyshormonogenesis SLC5A5 familial thyroid dyshormonogenesis familial_thyroid_dyshormonogenesis Familial Thyroid Dyshormonogenesis DUOXA2 familial thyroid dyshormonogenesis familial_thyroid_dyshormonogenesis Familial Thyroid Dyshormonogenesis DUOX2 familial thyroid dyshormonogenesis familial_thyroid_dyshormonogenesis Familial Thyroid Dyshormonogenesis IYD familial vesicoureteral reflux familial_vesicoureteral_reflux Familial Vesicoureteral Reflux TNXB familial vesicoureteral reflux familial_vesicoureteral_reflux Familial Vesicoureteral Reflux SOX17 fastkd2-related infantile mitochondrial encephalomyopathy fastkd2_related_infantile_mitochondrial_encephalomyopathy Fastkd2-Related Infantile Mitochondrial Encephalomyopathy FASTKD2 fatal infantile cytochrome c oxidase deficiency fatal_infantile_cytochrome_c_oxidase_deficiency Fatal Infantile Cytochrome C Oxidase Deficiency SCO1 fatal infantile cytochrome c oxidase deficiency fatal_infantile_cytochrome_c_oxidase_deficiency Fatal Infantile Cytochrome C Oxidase Deficiency COX15 fatal infantile cytochrome c oxidase deficiency fatal_infantile_cytochrome_c_oxidase_deficiency Fatal Infantile Cytochrome C Oxidase Deficiency COA6 fatal infantile cytochrome c oxidase deficiency fatal_infantile_cytochrome_c_oxidase_deficiency Fatal Infantile Cytochrome C Oxidase Deficiency COA5 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency fatal_infantile_hypertrophic_cardiomyopathy_due_to_mitochondrial_complex_i_deficiency Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency NDUFAF1 fatal post-viral neurodegenerative disorder fatal_post_viral_neurodegenerative_disorder Fatal Post-Viral Neurodegenerative Disorder PRF1 fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome fbln1_related_developmental_delay_central_nervous_system_anomaly_syndactyly_syndrome Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome FBLN1 female infertility due to oocyte meiotic arrest female_infertility_due_to_oocyte_meiotic_arrest Female Infertility Due to Oocyte Meiotic Arrest TUBB8 female infertility due to oocyte meiotic arrest female_infertility_due_to_oocyte_meiotic_arrest Female Infertility Due to Oocyte Meiotic Arrest PATL2 female infertility due to zona pellucida defect female_infertility_due_to_zona_pellucida_defect Female Infertility Due to Zona Pellucida Defect ZP3 female infertility due to zona pellucida defect female_infertility_due_to_zona_pellucida_defect Female Infertility Due to Zona Pellucida Defect ZP2 focal epilepsy-intellectual disability-cerebro-cerebellar malformation focal_epilepsy_intellectual_disability_cerebro_cerebellar_malformation_2 Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation TBC1D24 follicular lymphoma 1 follicular_lymphoma_1 Follicular Lymphoma 1 IGH follicular lymphoma 1 follicular_lymphoma_1 Follicular Lymphoma 1 BCL6 follicular lymphoma 1 follicular_lymphoma_1 Follicular Lymphoma 1 BCL2 fraxf syndrome fraxf_syndrome Fraxf Syndrome TMEM185A frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 CHCHD10 DOID:0060213 gastric cancer gastric_cancer Gastric Cancer MIR192 DOID:5517 gastric cancer gastric_cancer Gastric Cancer MIR196B DOID:5517 gastric cancer gastric_cancer Gastric Cancer MIR15B DOID:5517 gastric cancer gastric_cancer Gastric Cancer MIR150 DOID:5517 gastric cancer gastric_cancer Gastric Cancer MIR122 DOID:5517 gastric cancer, hereditary diffuse gastric_cancer_hereditary_diffuse Gastric Cancer, Hereditary Diffuse MAP3K6 gcgr-related hyperglucagonemia gcgr_related_hyperglucagonemia Gcgr-Related Hyperglucagonemia GCGR generalized galactose epimerase deficiency generalized_galactose_epimerase_deficiency Generalized Galactose Epimerase Deficiency GALE genetic hyperferritinemia without iron overload genetic_hyperferritinemia_without_iron_overload Genetic Hyperferritinemia Without Iron Overload FTL genetic recurrent myoglobinuria genetic_recurrent_myoglobinuria Genetic Recurrent Myoglobinuria MT-CO3 genetic recurrent myoglobinuria genetic_recurrent_myoglobinuria Genetic Recurrent Myoglobinuria MT-CO1 genetic recurrent myoglobinuria genetic_recurrent_myoglobinuria Genetic Recurrent Myoglobinuria LPIN1 genetic transient congenital hypothyroidism genetic_transient_congenital_hypothyroidism Genetic Transient Congenital Hypothyroidism DUOX2 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma TACC1 DOID:3074 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma TACC3 DOID:3074 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma FGFR1 DOID:3074 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma Sep-14 DOID:3074 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma FGFR3 DOID:3074 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma LZTR1 DOID:3074 glioblastoma glioblastoma Glioblastoma MIR326 glioblastoma glioblastoma Glioblastoma MIR451A glioma glioma Glioma MIR181A2 glioma glioma Glioma MIR296 gliosarcoma gliosarcoma Gliosarcoma FGFR1 DOID:3071 gliosarcoma gliosarcoma Gliosarcoma TACC3 DOID:3071 gliosarcoma gliosarcoma Gliosarcoma Sep-14 DOID:3071 gliosarcoma gliosarcoma Gliosarcoma LZTR1 DOID:3071 gliosarcoma gliosarcoma Gliosarcoma FGFR3 DOID:3071 gliosarcoma gliosarcoma Gliosarcoma TACC1 DOID:3071 global developmental delay-lung cysts-overgrowth-wilms tumor syndrome global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome DICER1 glut1 deficiency syndrome 2 glut1_deficiency_syndrome_2 Glut1 Deficiency Syndrome 2 PRRT2 DOID:0090045 glycine encephalopathy with normal serum glycine glycine_encephalopathy_with_normal_serum_glycine Glycine Encephalopathy with Normal Serum Glycine GLDC glycine encephalopathy with normal serum glycine glycine_encephalopathy_with_normal_serum_glycine Glycine Encephalopathy with Normal Serum Glycine AMT glycine encephalopathy with normal serum glycine glycine_encephalopathy_with_normal_serum_glycine Glycine Encephalopathy with Normal Serum Glycine GCSH glycogen storage disease due to acid maltase deficiency, infantile onset glycogen_storage_disease_due_to_acid_maltase_deficiency_infantile_onset Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset GAA glycogen storage disease due to acid maltase deficiency, late-onset glycogen_storage_disease_due_to_acid_maltase_deficiency_late_onset Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset GAA glycogen storage disease due to liver phosphorylase kinase deficiency glycogen_storage_disease_due_to_liver_phosphorylase_kinase_deficiency Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency PHKA2 goiter, multinodular 1, with or without sertoli-leydig cell tumors goiter_multinodular_1_with_or_without_sertoli_leydig_cell_tumors Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors KEAP1 growth retardation-mild developmental delay-chronic hepatitis syndrome growth_retardation_mild_developmental_delay_chronic_hepatitis_syndrome Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome SH2B3 hashimoto-pritzker syndrome hashimoto_pritzker_syndrome Hashimoto-Pritzker Syndrome BRAF heart disease heart_disease Heart Disease MIR210 DOID:1682 hemihyperplasia-multiple lipomatosis syndrome hemihyperplasia_multiple_lipomatosis_syndrome Hemihyperplasia-Multiple Lipomatosis Syndrome PIK3CA hemihyperplasia, isolated hemihyperplasia_isolated Hemihyperplasia, Isolated KCNQ1OT1 hemochromatosis, type 5 hemochromatosis_type_5 Hemochromatosis, Type 5 BMP6 DOID:0111031 hemoglobin c-beta-thalassemia syndrome hemoglobin_c_beta_thalassemia_syndrome Hemoglobin C-Beta-Thalassemia Syndrome HBB hemoglobin lepore-beta-thalassemia syndrome hemoglobin_lepore_beta_thalassemia_syndrome Hemoglobin Lepore-Beta-Thalassemia Syndrome HBD hemoglobin lepore-beta-thalassemia syndrome hemoglobin_lepore_beta_thalassemia_syndrome Hemoglobin Lepore-Beta-Thalassemia Syndrome HBB hemolytic anemia due to glutathione reductase deficiency hemolytic_anemia_due_to_glutathione_reductase_deficiency Hemolytic Anemia Due to Glutathione Reductase Deficiency GSR hemolytic uremic syndrome, atypical 1 hemolytic_uremic_syndrome_atypical_1 Hemolytic Uremic Syndrome, Atypical 1 CFHR5 DOID:0080301 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR191 DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR181B2 DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR24-2 DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR127 DOID:916 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MIR181B1 DOID:916 hereditary acrokeratotic poikiloderma, weary type hereditary_acrokeratotic_poikiloderma_weary_type Hereditary Acrokeratotic Poikiloderma, Weary Type FERMT1 hereditary hypercarotenemia and vitamin a deficiency hereditary_hypercarotenemia_and_vitamin_a_deficiency Hereditary Hypercarotenemia and Vitamin a Deficiency BCO1 hereditary late-onset parkinson disease hereditary_late_onset_parkinson_disease Hereditary Late-Onset Parkinson Disease DNAJC13 hereditary late-onset parkinson disease hereditary_late_onset_parkinson_disease Hereditary Late-Onset Parkinson Disease SNCA hereditary late-onset parkinson disease hereditary_late_onset_parkinson_disease Hereditary Late-Onset Parkinson Disease VPS35 hereditary late-onset parkinson disease hereditary_late_onset_parkinson_disease Hereditary Late-Onset Parkinson Disease LRRK2 hereditary motor and sensory neuropathy v hereditary_motor_and_sensory_neuropathy_v Hereditary Motor and Sensory Neuropathy V MFN2 hereditary neuroendocrine tumor of small intestine hereditary_neuroendocrine_tumor_of_small_intestine Hereditary Neuroendocrine Tumor of Small Intestine IPMK hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes VHL hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes KIF1B hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes FH hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHA hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes MDH2 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome hereditary_persistence_of_fetal_hemoglobin_beta_thalassemia_syndrome Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome KLF1 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome hereditary_persistence_of_fetal_hemoglobin_beta_thalassemia_syndrome Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome HBG2 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome hereditary_persistence_of_fetal_hemoglobin_beta_thalassemia_syndrome Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome HBG1 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome hereditary_persistence_of_fetal_hemoglobin_beta_thalassemia_syndrome Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome HBB hereditary persistence of fetal hemoglobin-sickle cell disease syndrome hereditary_persistence_of_fetal_hemoglobin_sickle_cell_disease_syndrome Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome KLF1 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome hereditary_persistence_of_fetal_hemoglobin_sickle_cell_disease_syndrome Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome HBB hereditary persistence of fetal hemoglobin-sickle cell disease syndrome hereditary_persistence_of_fetal_hemoglobin_sickle_cell_disease_syndrome Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome HBG2 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome hereditary_persistence_of_fetal_hemoglobin_sickle_cell_disease_syndrome Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome HBG1 hereditary pulmonary alveolar proteinosis hereditary_pulmonary_alveolar_proteinosis Hereditary Pulmonary Alveolar Proteinosis CSF2RA hereditary sensory and autonomic neuropathy type 1 hereditary_sensory_and_autonomic_neuropathy_type_1 Hereditary Sensory and Autonomic Neuropathy Type 1 ATL3 DOID:0070162 hereditary sensory and autonomic neuropathy type 1 hereditary_sensory_and_autonomic_neuropathy_type_1 Hereditary Sensory and Autonomic Neuropathy Type 1 ATL1 DOID:0070162 heritable pulmonary arterial hypertension heritable_pulmonary_arterial_hypertension Heritable Pulmonary Arterial Hypertension KCNK3 heritable pulmonary arterial hypertension heritable_pulmonary_arterial_hypertension Heritable Pulmonary Arterial Hypertension TBX4 heritable pulmonary arterial hypertension heritable_pulmonary_arterial_hypertension Heritable Pulmonary Arterial Hypertension SMAD9 heritable pulmonary arterial hypertension heritable_pulmonary_arterial_hypertension Heritable Pulmonary Arterial Hypertension EIF2AK4 heritable pulmonary arterial hypertension heritable_pulmonary_arterial_hypertension Heritable Pulmonary Arterial Hypertension CAV1 hermansky-pudlak syndrome with pulmonary fibrosis hermansky_pudlak_syndrome_with_pulmonary_fibrosis Hermansky-Pudlak Syndrome with Pulmonary Fibrosis HPS4 hermansky-pudlak syndrome without pulmonary fibrosis hermansky_pudlak_syndrome_without_pulmonary_fibrosis Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis HPS6 hermansky-pudlak syndrome without pulmonary fibrosis hermansky_pudlak_syndrome_without_pulmonary_fibrosis Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis HPS5 hermansky-pudlak syndrome without pulmonary fibrosis hermansky_pudlak_syndrome_without_pulmonary_fibrosis Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis HPS3 high bone mass osteogenesis imperfecta high_bone_mass_osteogenesis_imperfecta High Bone Mass Osteogenesis Imperfecta BMP1 high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement high_grade_b_cell_lymphoma_with_myc_and_or_bcl2_and_or_bcl6_rearrangement High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement MYC high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement high_grade_b_cell_lymphoma_with_myc_and_or_bcl2_and_or_bcl6_rearrangement High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement BCL6 high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement high_grade_b_cell_lymphoma_with_myc_and_or_bcl2_and_or_bcl6_rearrangement High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement BCL2 hot water reflex epilepsy hot_water_reflex_epilepsy Hot Water Reflex Epilepsy SLC1A1 htra1-related autosomal dominant cerebral small vessel disease htra1_related_autosomal_dominant_cerebral_small_vessel_disease Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease HTRA1 huntington disease huntington_disease Huntington Disease MIR132 DOID:12858 huntington disease huntington_disease Huntington Disease MIR29C DOID:12858 huntington disease-like syndrome due to c9orf72 expansions huntington_disease_like_syndrome_due_to_c9orf72_expansions Huntington Disease-Like Syndrome Due to C9orf72 Expansions C9orf72 hydrops fetalis, nonimmune hydrops_fetalis_nonimmune Hydrops Fetalis, Nonimmune HBA2 hydrops fetalis, nonimmune hydrops_fetalis_nonimmune Hydrops Fetalis, Nonimmune HBA1 hyperandrogenism due to cortisone reductase deficiency hyperandrogenism_due_to_cortisone_reductase_deficiency Hyperandrogenism Due to Cortisone Reductase Deficiency HSD11B1 hyperandrogenism due to cortisone reductase deficiency hyperandrogenism_due_to_cortisone_reductase_deficiency Hyperandrogenism Due to Cortisone Reductase Deficiency H6PD hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency hypercholesterolemia_due_to_cholesterol_7alpha_hydroxylase_deficiency Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency CYP7A1 hyperinsulinism due to hnf1a deficiency hyperinsulinism_due_to_hnf1a_deficiency Hyperinsulinism Due to Hnf1a Deficiency HNF1A hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency hyperinsulinism_due_to_short_chain_3_hydroxylacyl_coa_dehydrogenase_deficiency Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency HADH hyperinsulinism due to ucp2 deficiency hyperinsulinism_due_to_ucp2_deficiency Hyperinsulinism Due to Ucp2 Deficiency UCP2 hyperlipoproteinemia, type v hyperlipoproteinemia_type_v_2 Hyperlipoproteinemia, Type V CREB3L3 DOID:1171 hyperparathyroidism 3 hyperparathyroidism_3 Hyperparathyroidism 3 MEN1 hyperparathyroidism 3 hyperparathyroidism_3 Hyperparathyroidism 3 GCM2 hyperparathyroidism 3 hyperparathyroidism_3 Hyperparathyroidism 3 CDC73 hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PIGY hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PIGW hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PGAP3 hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PGAP2 hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PIGL hyperplastic polyposis syndrome hyperplastic_polyposis_syndrome Hyperplastic Polyposis Syndrome RNF43 hypertelorism, teebi type hypertelorism_teebi_type Hypertelorism, Teebi Type SPECC1L hypertension, essential hypertension_essential Hypertension, Essential MIR155 DOID:10825 hypertrichosis universalis congenita, ambras type hypertrichosis_universalis_congenita_ambras_type Hypertrichosis Universalis Congenita, Ambras Type SOX3 DOID:0111060 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation hypertrophic_cardiomyopathy_and_renal_tubular_disease_due_to_mitochondrial_dna_mutation Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation MT-TL1 hypocalcemia, autosomal dominant 1 hypocalcemia_autosomal_dominant_1 Hypocalcemia, Autosomal Dominant 1 GNA11 DOID:0090109 hypocalcemic vitamin d-dependent rickets hypocalcemic_vitamin_d_dependent_rickets Hypocalcemic Vitamin D-Dependent Rickets CYP2R1 hypocalcified amelogenesis imperfecta hypocalcified_amelogenesis_imperfecta Hypocalcified Amelogenesis Imperfecta SLC24A4 hypocalcified amelogenesis imperfecta hypocalcified_amelogenesis_imperfecta Hypocalcified Amelogenesis Imperfecta ITGB6 hypocalcified amelogenesis imperfecta hypocalcified_amelogenesis_imperfecta Hypocalcified Amelogenesis Imperfecta AMTN hypohidrotic ectodermal dysplasia autosomal recessive hypohidrotic_ectodermal_dysplasia_autosomal_recessive Hypohidrotic Ectodermal Dysplasia Autosomal Recessive WNT10A hypohidrotic ectodermal dysplasia with immunodeficiency hypohidrotic_ectodermal_dysplasia_with_immunodeficiency Hypohidrotic Ectodermal Dysplasia with Immunodeficiency NFKBIA hypomagnesemia 2, renal hypomagnesemia_2_renal Hypomagnesemia 2, Renal HNF1B DOID:0060885 hypoparathyroidism, familial isolated hypoparathyroidism_familial_isolated_2 Hypoparathyroidism, Familial Isolated AIRE hypopharynx cancer hypopharynx_cancer Hypopharynx Cancer MIR489 DOID:8533 hypoplastic amelogenesis imperfecta hypoplastic_amelogenesis_imperfecta Hypoplastic Amelogenesis Imperfecta AMBN hypoplastic amelogenesis imperfecta hypoplastic_amelogenesis_imperfecta Hypoplastic Amelogenesis Imperfecta ITGB6 hypothyroidism due to deficient transcription factors involved in pituitary development or function hypothyroidism_due_to_deficient_transcription_factors_involved_in_pituitary_development_or_function Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function PROP1 hypothyroidism due to deficient transcription factors involved in pituitary development or function hypothyroidism_due_to_deficient_transcription_factors_involved_in_pituitary_development_or_function Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function POU1F1 hypothyroidism due to deficient transcription factors involved in pituitary development or function hypothyroidism_due_to_deficient_transcription_factors_involved_in_pituitary_development_or_function Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function LHX4 hypothyroidism due to deficient transcription factors involved in pituitary development or function hypothyroidism_due_to_deficient_transcription_factors_involved_in_pituitary_development_or_function Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function LHX3 hypothyroidism due to deficient transcription factors involved in pituitary development or function hypothyroidism_due_to_deficient_transcription_factors_involved_in_pituitary_development_or_function Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function HESX1 hypothyroidism, congenital, nongoitrous, 2 hypothyroidism_congenital_nongoitrous_2 Hypothyroidism, Congenital, Nongoitrous, 2 SLC26A4 hypothyroidism, congenital, nongoitrous, 3 hypothyroidism_congenital_nongoitrous_3 Hypothyroidism, Congenital, Nongoitrous, 3 THRB hypothyroidism, congenital, nongoitrous, 3 hypothyroidism_congenital_nongoitrous_3 Hypothyroidism, Congenital, Nongoitrous, 3 THRA hypotonia-speech impairment-severe cognitive delay syndrome hypotonia_speech_impairment_severe_cognitive_delay_syndrome Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome UNC80 hypotonia-speech impairment-severe cognitive delay syndrome hypotonia_speech_impairment_severe_cognitive_delay_syndrome Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome NALCN hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex DSG4 hypotrichosis simplex of the scalp hypotrichosis_simplex_of_the_scalp Hypotrichosis Simplex of the Scalp KRT74 hypouricemia, renal, 1 hypouricemia_renal_1 Hypouricemia, Renal, 1 SLC2A9 idiopathic bronchiectasis idiopathic_bronchiectasis Idiopathic Bronchiectasis SCNN1A idiopathic bronchiectasis idiopathic_bronchiectasis Idiopathic Bronchiectasis SCNN1G idiopathic bronchiectasis idiopathic_bronchiectasis Idiopathic Bronchiectasis SCNN1B idiopathic hypercalciuria idiopathic_hypercalciuria Idiopathic Hypercalciuria ADCY10 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation idiopathic_steroid_sensitive_nephrotic_syndrome_with_diffuse_mesangial_proliferation Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation EMP2 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis idiopathic_steroid_sensitive_nephrotic_syndrome_with_focal_segmental_hyalinosis Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis EMP2 idiopathic steroid-sensitive nephrotic syndrome with minimal change idiopathic_steroid_sensitive_nephrotic_syndrome_with_minimal_change Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change EMP2 idiopathic ventricular fibrillation, non brugada type idiopathic_ventricular_fibrillation_non_brugada_type Idiopathic Ventricular Fibrillation, Non Brugada Type DPP6 immunodeficiency 14 immunodeficiency_14 Immunodeficiency 14 PTEN immunodeficiency 14 immunodeficiency_14 Immunodeficiency 14 PIK3R1 immunodeficiency by defective expression of hla class 1 immunodeficiency_by_defective_expression_of_hla_class_1 Immunodeficiency by Defective Expression of Hla Class 1 B2M immunodeficiency due to a classical component pathway complement deficiency immunodeficiency_due_to_a_classical_component_pathway_complement_deficiency Immunodeficiency Due to a Classical Component Pathway Complement Deficiency C2 immunodeficiency due to a classical component pathway complement deficiency immunodeficiency_due_to_a_classical_component_pathway_complement_deficiency Immunodeficiency Due to a Classical Component Pathway Complement Deficiency C4A immunodeficiency due to a classical component pathway complement deficiency immunodeficiency_due_to_a_classical_component_pathway_complement_deficiency Immunodeficiency Due to a Classical Component Pathway Complement Deficiency C4B immunodeficiency due to a classical component pathway complement deficiency immunodeficiency_due_to_a_classical_component_pathway_complement_deficiency Immunodeficiency Due to a Classical Component Pathway Complement Deficiency C1S immunodeficiency due to a classical component pathway complement deficiency immunodeficiency_due_to_a_classical_component_pathway_complement_deficiency Immunodeficiency Due to a Classical Component Pathway Complement Deficiency C1R immunodeficiency due to a classical component pathway complement deficiency immunodeficiency_due_to_a_classical_component_pathway_complement_deficiency Immunodeficiency Due to a Classical Component Pathway Complement Deficiency C1QB immunodeficiency due to a classical component pathway complement deficiency immunodeficiency_due_to_a_classical_component_pathway_complement_deficiency Immunodeficiency Due to a Classical Component Pathway Complement Deficiency C1QC immunodeficiency due to a classical component pathway complement deficiency immunodeficiency_due_to_a_classical_component_pathway_complement_deficiency Immunodeficiency Due to a Classical Component Pathway Complement Deficiency C1QA immunodeficiency due to a late component of complement deficiency immunodeficiency_due_to_a_late_component_of_complement_deficiency Immunodeficiency Due to a Late Component of Complement Deficiency C8G immunodeficiency due to a late component of complement deficiency immunodeficiency_due_to_a_late_component_of_complement_deficiency Immunodeficiency Due to a Late Component of Complement Deficiency C9 immunodeficiency due to a late component of complement deficiency immunodeficiency_due_to_a_late_component_of_complement_deficiency Immunodeficiency Due to a Late Component of Complement Deficiency C8B immunodeficiency due to a late component of complement deficiency immunodeficiency_due_to_a_late_component_of_complement_deficiency Immunodeficiency Due to a Late Component of Complement Deficiency C8A immunodeficiency due to a late component of complement deficiency immunodeficiency_due_to_a_late_component_of_complement_deficiency Immunodeficiency Due to a Late Component of Complement Deficiency C5 immunodeficiency due to a late component of complement deficiency immunodeficiency_due_to_a_late_component_of_complement_deficiency Immunodeficiency Due to a Late Component of Complement Deficiency C7 immunoglobulin kappa light chain deficiency immunoglobulin_kappa_light_chain_deficiency Immunoglobulin Kappa Light Chain Deficiency IGHG2 infantile bartter syndrome with sensorineural deafness infantile_bartter_syndrome_with_sensorineural_deafness Infantile Bartter Syndrome with Sensorineural Deafness CLCNKB infantile bartter syndrome with sensorineural deafness infantile_bartter_syndrome_with_sensorineural_deafness Infantile Bartter Syndrome with Sensorineural Deafness CLCNKA infantile bartter syndrome with sensorineural deafness infantile_bartter_syndrome_with_sensorineural_deafness Infantile Bartter Syndrome with Sensorineural Deafness BSND infantile glycine encephalopathy infantile_glycine_encephalopathy Infantile Glycine Encephalopathy SLC6A9 infantile glycine encephalopathy infantile_glycine_encephalopathy Infantile Glycine Encephalopathy GLDC infantile glycine encephalopathy infantile_glycine_encephalopathy Infantile Glycine Encephalopathy GCSH infantile glycine encephalopathy infantile_glycine_encephalopathy Infantile Glycine Encephalopathy AMT infantile krabbe disease infantile_krabbe_disease Infantile Krabbe Disease PSAP infantile nephronophthisis infantile_nephronophthisis Infantile Nephronophthisis TTC21B infantile nephronophthisis infantile_nephronophthisis Infantile Nephronophthisis NEK8 infantile osteopetrosis with neuroaxonal dysplasia infantile_osteopetrosis_with_neuroaxonal_dysplasia Infantile Osteopetrosis with Neuroaxonal Dysplasia OSTM1 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome infantile_spams_psychomotor_retardation_progressive_brain_atrophy_basal_ganglia_disease_syndrome Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome SLC19A3 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression infantile_onset_mesial_temporal_lobe_epilepsy_with_severe_cognitive_regression Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression TNK2 inflammatory bowel disease 25, autosomal recessive inflammatory_bowel_disease_25_autosomal_recessive Inflammatory Bowel Disease 25, Autosomal Recessive IL10RA inflammatory bowel disease 25, autosomal recessive inflammatory_bowel_disease_25_autosomal_recessive Inflammatory Bowel Disease 25, Autosomal Recessive IL10 inherited congenital spastic tetraplegia inherited_congenital_spastic_tetraplegia Inherited Congenital Spastic Tetraplegia KANK1 inherited congenital spastic tetraplegia inherited_congenital_spastic_tetraplegia Inherited Congenital Spastic Tetraplegia GAD1 inherited congenital spastic tetraplegia inherited_congenital_spastic_tetraplegia Inherited Congenital Spastic Tetraplegia ADD3 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency inherited_isolated_adrenal_insufficiency_due_to_partial_cyp11a1_deficiency Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency CYP11A1 intellectual disability syndrome due to a dyrk1a point mutation intellectual_disability_syndrome_due_to_a_dyrk1a_point_mutation Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation DYRK1A intellectual disability-expressive aphasia-facial dysmorphism syndrome intellectual_disability_expressive_aphasia_facial_dysmorphism_syndrome_2 Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome intellectual_disability_expressive_aphasia_facial_dysmorphism_syndrome_2 Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome SETBP1 intellectual disability-hyperkinetic movement-truncal ataxia syndrome intellectual_disability_hyperkinetic_movement_truncal_ataxia_syndrome Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome TRAPPC11 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome intellectual_disability_obesity_brain_malformations_facial_dysmorphism_syndrome Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome TRAPPC9 intermediate congenital nemaline myopathy intermediate_congenital_nemaline_myopathy Intermediate Congenital Nemaline Myopathy TPM3 intermediate congenital nemaline myopathy intermediate_congenital_nemaline_myopathy Intermediate Congenital Nemaline Myopathy NEB intermediate congenital nemaline myopathy intermediate_congenital_nemaline_myopathy Intermediate Congenital Nemaline Myopathy KLHL41 intermediate congenital nemaline myopathy intermediate_congenital_nemaline_myopathy Intermediate Congenital Nemaline Myopathy ACTA1 intermediate maple syrup urine disease intermediate_maple_syrup_urine_disease Intermediate Maple Syrup Urine Disease PPM1K intermediate maple syrup urine disease intermediate_maple_syrup_urine_disease Intermediate Maple Syrup Urine Disease BCKDHB intermediate severe salla disease intermediate_severe_salla_disease Intermediate Severe Salla Disease SLC17A5 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome intrauterine_growth_restriction_short_stature_early_adult_onset_diabetes_syndrome Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome CDKN1C ischio-vertebral syndrome ischio_vertebral_syndrome Ischio-Vertebral Syndrome BMPER isolated aniridia isolated_aniridia Isolated Aniridia TRIM44 isolated aniridia isolated_aniridia Isolated Aniridia FOXC1 isolated asymptomatic elevation of creatine phosphokinase isolated_asymptomatic_elevation_of_creatine_phosphokinase Isolated Asymptomatic Elevation of Creatine Phosphokinase CAV3 isolated atp synthase deficiency isolated_atp_synthase_deficiency Isolated Atp Synthase Deficiency MT-ATP8 isolated atp synthase deficiency isolated_atp_synthase_deficiency Isolated Atp Synthase Deficiency MT-ATP6 isolated atp synthase deficiency isolated_atp_synthase_deficiency Isolated Atp Synthase Deficiency ATPAF2 isolated atp synthase deficiency isolated_atp_synthase_deficiency Isolated Atp Synthase Deficiency ATP5F1A isolated atp synthase deficiency isolated_atp_synthase_deficiency Isolated Atp Synthase Deficiency ATP5F1E isolated autosomal dominant hypomagnesemia, glaudemans type isolated_autosomal_dominant_hypomagnesemia_glaudemans_type Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type KCNA1 isolated bone marrow mastocytosis isolated_bone_marrow_mastocytosis Isolated Bone Marrow Mastocytosis KIT isolated brachycephaly isolated_brachycephaly Isolated Brachycephaly ZIC1 isolated brachycephaly isolated_brachycephaly Isolated Brachycephaly TWIST1 isolated brachycephaly isolated_brachycephaly Isolated Brachycephaly TCF12 isolated brachycephaly isolated_brachycephaly Isolated Brachycephaly FGFR3 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency UQCC3 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency UQCRB isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency UQCRC2 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency UQCRQ isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency UQCC2 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency TTC19 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency CYC1 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency LYRM7 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency MT-CYB isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency BCS1L isolated congenital breast hypoplasia/aplasia isolated_congenital_breast_hypoplasia_aplasia Isolated Congenital Breast Hypoplasia/aplasia PTPRF isolated delta-storage pool disease isolated_delta_storage_pool_disease Isolated Delta-Storage Pool Disease RUNX1 isolated delta-storage pool disease isolated_delta_storage_pool_disease Isolated Delta-Storage Pool Disease FLI1 isolated focal non-epidermolytic palmoplantar keratoderma isolated_focal_non_epidermolytic_palmoplantar_keratoderma Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma KRT16 isolated growth hormone deficiency, type ii isolated_growth_hormone_deficiency_type_ii Isolated Growth Hormone Deficiency, Type Ii POU1F1 DOID:0060872 isolated growth hormone deficiency, type iii isolated_growth_hormone_deficiency_type_iii Isolated Growth Hormone Deficiency, Type Iii ELF4 DOID:0060875 isolated klippel-feil syndrome isolated_klippel_feil_syndrome Isolated Klippel-Feil Syndrome MEOX1 isolated klippel-feil syndrome isolated_klippel_feil_syndrome Isolated Klippel-Feil Syndrome GDF6 isolated klippel-feil syndrome isolated_klippel_feil_syndrome Isolated Klippel-Feil Syndrome GDF3 isolated megalencephaly isolated_megalencephaly Isolated Megalencephaly TBC1D7 isolated neonatal sclerosing cholangitis isolated_neonatal_sclerosing_cholangitis Isolated Neonatal Sclerosing Cholangitis DCDC2 isolated oxycephaly isolated_oxycephaly Isolated Oxycephaly ZIC1 isolated plagiocephaly isolated_plagiocephaly Isolated Plagiocephaly ZIC1 isolated plagiocephaly isolated_plagiocephaly Isolated Plagiocephaly TWIST1 isolated plagiocephaly isolated_plagiocephaly Isolated Plagiocephaly TCF12 isolated plagiocephaly isolated_plagiocephaly Isolated Plagiocephaly FGFR3 isolated scaphocephaly isolated_scaphocephaly Isolated Scaphocephaly ERF isolated scaphocephaly isolated_scaphocephaly Isolated Scaphocephaly TWIST1 isolated split hand-split foot malformation isolated_split_hand_split_foot_malformation Isolated Split Hand-Split Foot Malformation WNT10B isolated split hand-split foot malformation isolated_split_hand_split_foot_malformation Isolated Split Hand-Split Foot Malformation EPS15L1 isolated split hand-split foot malformation isolated_split_hand_split_foot_malformation Isolated Split Hand-Split Foot Malformation DLX6 isolated split hand-split foot malformation isolated_split_hand_split_foot_malformation Isolated Split Hand-Split Foot Malformation DLX5 isolated trigonocephaly isolated_trigonocephaly Isolated Trigonocephaly FREM1 isolated trigonocephaly isolated_trigonocephaly Isolated Trigonocephaly FGFR1 joubert syndrome with jeune asphyxiating thoracic dystrophy joubert_syndrome_with_jeune_asphyxiating_thoracic_dystrophy Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy KIAA0586 joubert syndrome with jeune asphyxiating thoracic dystrophy joubert_syndrome_with_jeune_asphyxiating_thoracic_dystrophy Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy CSPP1 joubert syndrome with ocular anomalies joubert_syndrome_with_ocular_anomalies Joubert Syndrome with Ocular Anomalies MKS1 joubert syndrome with ocular anomalies joubert_syndrome_with_ocular_anomalies Joubert Syndrome with Ocular Anomalies INPP5E joubert syndrome with ocular anomalies joubert_syndrome_with_ocular_anomalies Joubert Syndrome with Ocular Anomalies CEP41 joubert syndrome with ocular anomalies joubert_syndrome_with_ocular_anomalies Joubert Syndrome with Ocular Anomalies CEP120 joubert syndrome with ocular anomalies joubert_syndrome_with_ocular_anomalies Joubert Syndrome with Ocular Anomalies AHI1 joubert syndrome with oculorenal anomalies joubert_syndrome_with_oculorenal_anomalies Joubert Syndrome with Oculorenal Anomalies TMEM237 joubert syndrome with oculorenal anomalies joubert_syndrome_with_oculorenal_anomalies Joubert Syndrome with Oculorenal Anomalies ZNF423 joubert syndrome with oculorenal anomalies joubert_syndrome_with_oculorenal_anomalies Joubert Syndrome with Oculorenal Anomalies TMEM231 joubert syndrome with oculorenal anomalies joubert_syndrome_with_oculorenal_anomalies Joubert Syndrome with Oculorenal Anomalies TMEM216 joubert syndrome with oculorenal anomalies joubert_syndrome_with_oculorenal_anomalies Joubert Syndrome with Oculorenal Anomalies CEP290 joubert syndrome with oculorenal anomalies joubert_syndrome_with_oculorenal_anomalies Joubert Syndrome with Oculorenal Anomalies TMEM138 joubert syndrome with oculorenal anomalies joubert_syndrome_with_oculorenal_anomalies Joubert Syndrome with Oculorenal Anomalies CC2D2A joubert syndrome with renal anomalies joubert_syndrome_with_renal_anomalies Joubert Syndrome with Renal Anomalies TMEM237 joubert syndrome with renal anomalies joubert_syndrome_with_renal_anomalies Joubert Syndrome with Renal Anomalies RPGRIP1L joubert syndrome with renal anomalies joubert_syndrome_with_renal_anomalies Joubert Syndrome with Renal Anomalies NPHP1 juvenile nephronophthisis juvenile_nephronophthisis Juvenile Nephronophthisis WDR19 juvenile nephronophthisis juvenile_nephronophthisis Juvenile Nephronophthisis GLIS2 juvenile nephronophthisis juvenile_nephronophthisis Juvenile Nephronophthisis MAPKBP1 juvenile nephronophthisis juvenile_nephronophthisis Juvenile Nephronophthisis ANKS6 juvenile sialidosis type 2 juvenile_sialidosis_type_2 Juvenile Sialidosis Type 2 NEU1 kabuki syndrome 1 kabuki_syndrome_1 Kabuki Syndrome 1 RAP1B DOID:0060473 kallmann syndrome kallmann_syndrome Kallmann Syndrome DCC DOID:3614 kaposiform hemangioendothelioma kaposiform_hemangioendothelioma Kaposiform Hemangioendothelioma GNA14 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma NUTM2E DOID:4880 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma TERT DOID:4880 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma YWHAE DOID:4880 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma NUTM2B DOID:4880 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma IRX2 DOID:4880 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma BCOR DOID:4880 klatskin's tumor klatskins_tumor Klatskin's Tumor MIR373 DOID:4927 kleeblattschaedel kleeblattschaedel Kleeblattschaedel ERF kleefstra syndrome due to a point mutation kleefstra_syndrome_due_to_a_point_mutation Kleefstra Syndrome Due to a Point Mutation KMT2C kleefstra syndrome due to a point mutation kleefstra_syndrome_due_to_a_point_mutation Kleefstra Syndrome Due to a Point Mutation EHMT1 klhl9-related early-onset distal myopathy klhl9_related_early_onset_distal_myopathy Klhl9-Related Early-Onset Distal Myopathy KLHL9 kohlschutter-tonz syndrome kohlschutter_tonz_syndrome_2 Kohlschutter-Tonz Syndrome SLC13A5 koolen-de vries syndrome due to a point mutation koolen_de_vries_syndrome_due_to_a_point_mutation Koolen-De Vries Syndrome Due to a Point Mutation KANSL1 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome kyphoscoliosis_lateral_tongue_atrophy_hereditary_spastic_paraplegia_syndrome Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome KY larynx cancer larynx_cancer Larynx Cancer MIR21 DOID:2600 late-infantile/juvenile krabbe disease late_infantile_juvenile_krabbe_disease Late-Infantile/juvenile Krabbe Disease GALC late-onset junctional epidermolysis bullosa late_onset_junctional_epidermolysis_bullosa Late-Onset Junctional Epidermolysis Bullosa COL17A1 late-onset nephronophthisis late_onset_nephronophthisis Late-Onset Nephronophthisis XPNPEP3 late-onset nephronophthisis late_onset_nephronophthisis Late-Onset Nephronophthisis NPHP3 late-onset nephronophthisis late_onset_nephronophthisis Late-Onset Nephronophthisis MAPKBP1 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis PCYT1A DOID:14791 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFS8 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFV1 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFS7 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFS4 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFS2 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFS3 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFV2 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy PDHA1 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy SURF1 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy TACO1 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy SLC19A3 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy SDHA leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy PET100 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFS1 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFAF6 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy MTFMT leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFA10 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy LIPT1 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy FOXRED1 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy ECHS1 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFA12 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFA13 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFAF2 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFAF5 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFA9 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFA4 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy NDUFA2 leigh syndrome with leukodystrophy leigh_syndrome_with_leukodystrophy Leigh Syndrome with Leukodystrophy COX15 leigh syndrome with nephrotic syndrome leigh_syndrome_with_nephrotic_syndrome Leigh Syndrome with Nephrotic Syndrome PDSS2 leigh syndrome with nephrotic syndrome leigh_syndrome_with_nephrotic_syndrome Leigh Syndrome with Nephrotic Syndrome COQ2 lentiginosis, inherited patterned lentiginosis_inherited_patterned Lentiginosis, Inherited Patterned SASH1 lethal congenital contracture syndrome 3 lethal_congenital_contracture_syndrome_3 Lethal Congenital Contracture Syndrome 3 MYBPC1 DOID:0060653 lethal hydranencephaly-diaphragmatic hernia syndrome lethal_hydranencephaly_diaphragmatic_hernia_syndrome Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome PLAT leukemia leukemia Leukemia MIR27A DOID:1240 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic MIR203A leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic MIR155 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic MIR152 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 TCF3 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 AUTS2 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 RUNX1 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 PDGFRA leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 HLF leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 FOXP1 leukemia, acute lymphoblastic 3 leukemia_acute_lymphoblastic_3 Leukemia, Acute Lymphoblastic 3 AFF1 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid MIR34B DOID:9119 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid MIR126 DOID:9119 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid MIR320A DOID:9119 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid MIR204 DOID:9119 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR145 DOID:1040 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR29A DOID:1040 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR143 DOID:1040 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic IGHG1 DOID:1040 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR107 DOID:1040 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR424 DOID:1040 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR106B DOID:1040 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid MIR203A DOID:8552 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid MIR20A DOID:8552 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid MIR223 DOID:8552 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid MIR10A DOID:8552 leukoencephalopathy with vanishing white matter leukoencephalopathy_with_vanishing_white_matter Leukoencephalopathy with Vanishing White Matter AARS2 DOID:0060868 leukoencephalopathy, cystic, without megalencephaly leukoencephalopathy_cystic_without_megalencephaly Leukoencephalopathy, Cystic, Without Megalencephaly NDUFA2 leukoencephalopathy, hereditary diffuse, with spheroids leukoencephalopathy_hereditary_diffuse_with_spheroids Leukoencephalopathy, Hereditary Diffuse, with Spheroids AARS2 linear skin defects with multiple congenital anomalies 1 linear_skin_defects_with_multiple_congenital_anomalies_1 Linear Skin Defects with Multiple Congenital Anomalies 1 NDUFB11 linear skin defects with multiple congenital anomalies 1 linear_skin_defects_with_multiple_congenital_anomalies_1 Linear Skin Defects with Multiple Congenital Anomalies 1 COX7B lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency lipid_storage_myopathy_due_to_flavin_adenine_dinucleotide_synthetase_deficiency Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency SLC25A32 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency lipid_storage_myopathy_due_to_flavin_adenine_dinucleotide_synthetase_deficiency Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency ETFDH lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency lipid_storage_myopathy_due_to_flavin_adenine_dinucleotide_synthetase_deficiency Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency ETFA lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency lipid_storage_myopathy_due_to_flavin_adenine_dinucleotide_synthetase_deficiency Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency ETFB lmna-related cardiocutaneous progeria syndrome lmna_related_cardiocutaneous_progeria_syndrome Lmna-Related Cardiocutaneous Progeria Syndrome LMNA lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly SHH lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly SIX3 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly NODAL lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly TDGF1 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly ZIC2 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly TGIF1 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly GLI2 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly FOXH1 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly GAS1 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly DLL1 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly CDON lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly FGF8 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 CAV3 DOID:0110644 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 TRDN DOID:0110644 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 KCNJ5 DOID:0110644 long qt syndrome 1 long_qt_syndrome_1 Long Qt Syndrome 1 CALM1 DOID:0110644 low anorectal malformation low_anorectal_malformation Low Anorectal Malformation MYH14 lumbosacral spina bifida aperta lumbosacral_spina_bifida_aperta Lumbosacral Spina Bifida Aperta FUZ lumbosacral spina bifida cystica lumbosacral_spina_bifida_cystica Lumbosacral Spina Bifida Cystica FUZ lung cancer lung_cancer Lung Cancer MIR486-1 DOID:3908 lung cancer lung_cancer Lung Cancer MIRLET7A3 DOID:3908 lung cancer lung_cancer Lung Cancer MIR222 DOID:3908 lung cancer lung_cancer Lung Cancer MIR34B DOID:3908 lung cancer lung_cancer Lung Cancer MIR372 DOID:3908 lung cancer lung_cancer Lung Cancer MIR34C DOID:3908 lung cancer lung_cancer Lung Cancer MIR98 DOID:3908 lung cancer lung_cancer Lung Cancer MIR30D DOID:3908 lung cancer lung_cancer Lung Cancer MIR200A DOID:3908 lung cancer lung_cancer Lung Cancer MIR185 DOID:3908 lung cancer lung_cancer Lung Cancer MIR15A DOID:3908 lung cancer lung_cancer Lung Cancer MIR18A DOID:3908 lung cancer lung_cancer Lung Cancer MIRLET7E DOID:3908 lung cancer lung_cancer Lung Cancer MIRLET7B DOID:3908 lung cancer lung_cancer Lung Cancer MIRLET7G DOID:3908 lung cancer lung_cancer Lung Cancer MIRLET7D DOID:3908 lung cancer lung_cancer Lung Cancer MIR499A DOID:3908 lung leiomyoma lung_leiomyoma Lung Leiomyoma MIR221 DOID:5136 lymphoadenopathic mastocytosis with eosinophilia lymphoadenopathic_mastocytosis_with_eosinophilia Lymphoadenopathic Mastocytosis with Eosinophilia KIT lymphomatoid papulosis lymphomatoid_papulosis Lymphomatoid Papulosis TYK2 machado-joseph disease type 1 machado_joseph_disease_type_1 Machado-Joseph Disease Type 1 ATXN3 machado-joseph disease type 2 machado_joseph_disease_type_2 Machado-Joseph Disease Type 2 ATXN3 machado-joseph disease type 3 machado_joseph_disease_type_3 Machado-Joseph Disease Type 3 ATXN3 macrocephaly/autism syndrome macrocephaly_autism_syndrome Macrocephaly/autism Syndrome HEPACAM DOID:0060867 macrodactyly of fingers, unilateral macrodactyly_of_fingers_unilateral Macrodactyly of Fingers, Unilateral PIK3CA macrodactyly of toes, unilateral macrodactyly_of_toes_unilateral Macrodactyly of Toes, Unilateral PIK3CA macrophthalmia, colobomatous, with microcornea macrophthalmia_colobomatous_with_microcornea Macrophthalmia, Colobomatous, with Microcornea CRIM1 macrostomia, isolated macrostomia_isolated Macrostomia, Isolated SPECC1L macrostomia, isolated macrostomia_isolated Macrostomia, Isolated PTCH2 macular dystrophy, vitelliform, 3 macular_dystrophy_vitelliform_3 Macular Dystrophy, Vitelliform, 3 IMPG2 macular dystrophy, vitelliform, 3 macular_dystrophy_vitelliform_3 Macular Dystrophy, Vitelliform, 3 BEST1 macular dystrophy, vitelliform, 3 macular_dystrophy_vitelliform_3 Macular Dystrophy, Vitelliform, 3 IMPG1 maligant granulosa cell tumor of the ovary maligant_granulosa_cell_tumor_of_the_ovary Maligant Granulosa Cell Tumor of the Ovary FOXL2 malignant epithelial tumor of salivary glands malignant_epithelial_tumor_of_salivary_glands Malignant Epithelial Tumor of Salivary Glands PRKD1 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy SLC25A22 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy PLCB1 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy SLC12A5 malignant peripheral nerve sheath tumor malignant_peripheral_nerve_sheath_tumor Malignant Peripheral Nerve Sheath Tumor HTRA1 DOID:5940 malignant peripheral nerve sheath tumor malignant_peripheral_nerve_sheath_tumor Malignant Peripheral Nerve Sheath Tumor SH3PXD2A DOID:5940 man1b1-cdg man1b1_cdg Man1b1-Cdg MAN1B1 marie unna congenital hypotrichosis marie_unna_congenital_hypotrichosis Marie Unna Congenital Hypotrichosis HR marie unna congenital hypotrichosis marie_unna_congenital_hypotrichosis Marie Unna Congenital Hypotrichosis EPS8L3 marinesco-sjogren syndrome marinesco_sjogren_syndrome Marinesco-Sjogren Syndrome INPP5K DOID:0080195 maternally-inherited cardiomyopathy and hearing loss maternally_inherited_cardiomyopathy_and_hearing_loss Maternally-Inherited Cardiomyopathy and Hearing Loss MT-TK maternally-inherited progressive external ophthalmoplegia maternally_inherited_progressive_external_ophthalmoplegia Maternally-Inherited Progressive External Ophthalmoplegia MT-TL2 maternally-inherited progressive external ophthalmoplegia maternally_inherited_progressive_external_ophthalmoplegia Maternally-Inherited Progressive External Ophthalmoplegia MT-TS1 maternally-inherited progressive external ophthalmoplegia maternally_inherited_progressive_external_ophthalmoplegia Maternally-Inherited Progressive External Ophthalmoplegia MT-TN maternally-inherited spastic paraplegia maternally_inherited_spastic_paraplegia Maternally-Inherited Spastic Paraplegia MT-ATP6 medulloblastoma medulloblastoma Medulloblastoma MIR18A DOID:0050902 medulloblastoma medulloblastoma Medulloblastoma MIR30B DOID:0050902 medulloblastoma medulloblastoma Medulloblastoma MIR30D DOID:0050902 medulloblastoma medulloblastoma Medulloblastoma MIR19A DOID:0050902 medulloblastoma medulloblastoma Medulloblastoma MIR20A DOID:0050902 medulloblastoma medulloblastoma Medulloblastoma MIR17 DOID:0050902 medulloblastoma medulloblastoma Medulloblastoma MIR125A DOID:0050902 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) megakaryoblastic_acute_myeloid_leukemia_with_t122p13q13 Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) RBM15 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) megakaryoblastic_acute_myeloid_leukemia_with_t122p13q13 Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) MKL1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 megalencephaly_polymicrogyria_polydactyly_hydrocephalus_syndrome_1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 CCND2 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 megalencephaly_polymicrogyria_polydactyly_hydrocephalus_syndrome_1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 AKT3 melanoma melanoma Melanoma MIRLET7B DOID:1909 melanoma of soft tissue melanoma_of_soft_tissue Melanoma of Soft Tissue EWSR1 melanoma of soft tissue melanoma_of_soft_tissue Melanoma of Soft Tissue CREB1 melanoma of soft tissue melanoma_of_soft_tissue Melanoma of Soft Tissue ATF1 meningioma, familial meningioma_familial Meningioma, Familial MIR200A DOID:4586 mental retardation, x-linked, associated with fragile site fraxe mental_retardation_x_linked_associated_with_fragile_site_fraxe Mental Retardation, X-Linked, Associated with Fragile Site Fraxe FMR3 metachromatic leukodystrophy, adult form metachromatic_leukodystrophy_adult_form Metachromatic Leukodystrophy, Adult Form PSAP metachromatic leukodystrophy, juvenile form metachromatic_leukodystrophy_juvenile_form Metachromatic Leukodystrophy, Juvenile Form PSAP metachromatic leukodystrophy, late infantile form metachromatic_leukodystrophy_late_infantile_form Metachromatic Leukodystrophy, Late Infantile Form PSAP metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria metaphyseal_enchondromatosis_with_d_2_hydroxyglutaric_aciduria Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria IDH1 methemoglobinemia, beta-globin type methemoglobinemia_beta_globin_type_2 Methemoglobinemia, Beta-Globin Type HBA2 methemoglobinemia, beta-globin type methemoglobinemia_beta_globin_type_2 Methemoglobinemia, Beta-Globin Type HBA1 metopic ridging-ptosis-facial dysmorphism syndrome metopic_ridging_ptosis_facial_dysmorphism_syndrome Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome ZNF462 microcephalic primordial dwarfism-insulin resistance syndrome microcephalic_primordial_dwarfism_insulin_resistance_syndrome Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome XRCC4 microcephalic primordial dwarfism-insulin resistance syndrome microcephalic_primordial_dwarfism_insulin_resistance_syndrome Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome NSMCE2 microcephaly-complex motor and sensory axonal neuropathy syndrome microcephaly_complex_motor_and_sensory_axonal_neuropathy_syndrome Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome VRK1 microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom microcephaly_corpus_callosum_and_cerebellar_vermis_hypoplasia_facial_dysmorphism_intellectual_disability_syndrom Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom RAC1 microcephaly-polymicrogyria-corpus callosum agenesis syndrome microcephaly_polymicrogyria_corpus_callosum_agenesis_syndrome Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome EOMES microcephaly-short stature-intellectual disability-facial dysmorphism syndrome microcephaly_short_stature_intellectual_disability_facial_dysmorphism_syndrome Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome QARS microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly ZIC2 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly SHH microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly SIX3 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly TDGF1 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly PTCH1 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly TGIF1 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly FOXH1 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly DLL1 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly NODAL microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly FGF8 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly GAS1 microlissencephaly microlissencephaly Microlissencephaly KATNB1 microlissencephaly microlissencephaly Microlissencephaly NDE1 microvascular complications of diabetes 3 microvascular_complications_of_diabetes_3 Microvascular Complications of Diabetes 3 MIR21 microvascular complications of diabetes 3 microvascular_complications_of_diabetes_3 Microvascular Complications of Diabetes 3 MIR192 microvascular complications of diabetes 3 microvascular_complications_of_diabetes_3 Microvascular Complications of Diabetes 3 MIR377 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly SHH midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly PTCH1 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly SIX3 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly TDGF1 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly ZIC2 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly TGIF1 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly NODAL midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly GLI2 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly DLL1 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly DISP1 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly FGF8 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly FOXH1 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly GAS1 midline interhemispheric variant of holoprosencephaly midline_interhemispheric_variant_of_holoprosencephaly Midline Interhemispheric Variant of Holoprosencephaly CDON minimal pigment oculocutaneous albinism type 1 minimal_pigment_oculocutaneous_albinism_type_1 Minimal Pigment Oculocutaneous Albinism Type 1 TYR mirror movements 1 mirror_movements_1 Mirror Movements 1 RAD51 DOID:0111153 mirror movements 1 mirror_movements_1 Mirror Movements 1 DNAL4 DOID:0111153 mirror movements 1 mirror_movements_1 Mirror Movements 1 NTN1 DOID:0111153 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency PET117 DOID:3762 mitochondrial dna depletion syndrome, hepatocerebrorenal form mitochondrial_dna_depletion_syndrome_hepatocerebrorenal_form Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form TWNK mitochondrial myopathy, infantile, transient mitochondrial_myopathy_infantile_transient Mitochondrial Myopathy, Infantile, Transient TRMU mitochondrial neurogastrointestinal encephalomyopathy mitochondrial_neurogastrointestinal_encephalomyopathy Mitochondrial Neurogastrointestinal Encephalomyopathy RRM2B mitochondrial non-syndromic sensorineural deafness mitochondrial_non_syndromic_sensorineural_deafness Mitochondrial Non-Syndromic Sensorineural Deafness MT-TS1 mitochondrial non-syndromic sensorineural deafness mitochondrial_non_syndromic_sensorineural_deafness Mitochondrial Non-Syndromic Sensorineural Deafness MT-CO1 mitochondrial non-syndromic sensorineural deafness mitochondrial_non_syndromic_sensorineural_deafness Mitochondrial Non-Syndromic Sensorineural Deafness MT-TH mitochondrial non-syndromic sensorineural deafness mitochondrial_non_syndromic_sensorineural_deafness Mitochondrial Non-Syndromic Sensorineural Deafness MT-RNR1 mitral valve prolapse 1 mitral_valve_prolapse_1 Mitral Valve Prolapse 1 DCHS1 moebius syndrome moebius_syndrome Moebius Syndrome REV3L DOID:13501 mosaic variegated aneuploidy syndrome mosaic_variegated_aneuploidy_syndrome Mosaic Variegated Aneuploidy Syndrome BUB3 mosaic variegated aneuploidy syndrome mosaic_variegated_aneuploidy_syndrome Mosaic Variegated Aneuploidy Syndrome BUB1 mowat-wilson syndrome due to a zeb2 point mutation mowat_wilson_syndrome_due_to_a_zeb2_point_mutation Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation ZEB2 mucopolysaccharidosis type 2, attenuated form mucopolysaccharidosis_type_2_attenuated_form Mucopolysaccharidosis Type 2, Attenuated Form IDS mucopolysaccharidosis type 6, rapidly progressing mucopolysaccharidosis_type_6_rapidly_progressing Mucopolysaccharidosis Type 6, Rapidly Progressing ARSB mucopolysaccharidosis type 6, slowly progressing mucopolysaccharidosis_type_6_slowly_progressing Mucopolysaccharidosis Type 6, Slowly Progressing ARSB multicentric osteolysis, nodulosis, and arthropathy multicentric_osteolysis_nodulosis_and_arthropathy Multicentric Osteolysis, Nodulosis, and Arthropathy MMP14 multifocal pattern dystrophy simulating fundus flavimaculatus multifocal_pattern_dystrophy_simulating_fundus_flavimaculatus Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus PRPH2 multiple benign circumferential skin creases on limbs multiple_benign_circumferential_skin_creases_on_limbs Multiple Benign Circumferential Skin Creases on Limbs MAPRE2 multiple epiphyseal dysplasia due to collagen 9 anomaly multiple_epiphyseal_dysplasia_due_to_collagen_9_anomaly Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly COL9A3 multiple epiphyseal dysplasia due to collagen 9 anomaly multiple_epiphyseal_dysplasia_due_to_collagen_9_anomaly Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly COL9A2 multiple epiphyseal dysplasia due to collagen 9 anomaly multiple_epiphyseal_dysplasia_due_to_collagen_9_anomaly Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly COL9A1 multiple paragangliomas associated with polycythemia multiple_paragangliomas_associated_with_polycythemia Multiple Paragangliomas Associated with Polycythemia EPAS1 multiple pterygium syndrome, lethal type multiple_pterygium_syndrome_lethal_type_2 Multiple Pterygium Syndrome, Lethal Type NEB multiple pterygium syndrome, lethal type multiple_pterygium_syndrome_lethal_type_2 Multiple Pterygium Syndrome, Lethal Type RYR1 muscular dystrophy, limb-girdle, type 1e muscular_dystrophy_limb_girdle_type_1e Muscular Dystrophy, Limb-Girdle, Type 1e DES DOID:0110305 musculocontractural ehlers-danlos syndrome musculocontractural_ehlers_danlos_syndrome Musculocontractural Ehlers-Danlos Syndrome P4HA1 myasthenic syndrome, congenital, 5 myasthenic_syndrome_congenital_5 Myasthenic Syndrome, Congenital, 5 LAMB2 DOID:0110667 mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome mybpc1_related_autosomal_recessive_non_lethal_arthrogryposis_multiplex_congenita_syndrome Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome MYBPC1 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome MIR127 DOID:0050908 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome MIR378A DOID:0050908 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome MIR10A DOID:0050908 myeloid/lymphoid neoplasm associated with pdgfra rearrangement myeloid_lymphoid_neoplasm_associated_with_pdgfra_rearrangement Myeloid/lymphoid Neoplasm Associated with Pdgfra Rearrangement PDGFRA myeloid/lymphoid neoplasm associated with pdgfrb rearrangement myeloid_lymphoid_neoplasm_associated_with_pdgfrb_rearrangement Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement PDGFRB myeloma, multiple myeloma_multiple Myeloma, Multiple MIR19A DOID:9538 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR32 DOID:9538 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR93 DOID:9538 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR106B DOID:9538 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR181A2 DOID:9538 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR15A DOID:9538 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR25 DOID:9538 myo5b-related progressive familial intrahepatic cholestasis myo5b_related_progressive_familial_intrahepatic_cholestasis Myo5b-Related Progressive Familial Intrahepatic Cholestasis MYO5B myoclonic epilepsy associated with ragged-red fibers myoclonic_epilepsy_associated_with_ragged_red_fibers Myoclonic Epilepsy Associated with Ragged-Red Fibers MT-TS1 DOID:310 myoclonic epilepsy associated with ragged-red fibers myoclonic_epilepsy_associated_with_ragged_red_fibers Myoclonic Epilepsy Associated with Ragged-Red Fibers MT-TH DOID:310 myoclonic epilepsy, familial infantile myoclonic_epilepsy_familial_infantile Myoclonic Epilepsy, Familial Infantile CPLX1 myoclonic-astastic epilepsy myoclonic_astastic_epilepsy Myoclonic-Astastic Epilepsy SLC6A1 myoclonic-astastic epilepsy myoclonic_astastic_epilepsy Myoclonic-Astastic Epilepsy CHD2 myopathic intestinal pseudoobstruction myopathic_intestinal_pseudoobstruction Myopathic Intestinal Pseudoobstruction ACTG2 myopathy, centronuclear, 1 myopathy_centronuclear_1 Myopathy, Centronuclear, 1 BIN1 myopathy, centronuclear, 2 myopathy_centronuclear_2 Myopathy, Centronuclear, 2 SPEG myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy_lactic_acidosis_and_sideroblastic_anemia_1 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 myxofibrosarcoma myxofibrosarcoma Myxofibrosarcoma CREB3L1 myxofibrosarcoma myxofibrosarcoma Myxofibrosarcoma FUS myxofibrosarcoma myxofibrosarcoma Myxofibrosarcoma CREB3L2 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma MIR100 DOID:9261 nebulin-related early-onset distal myopathy nebulin_related_early_onset_distal_myopathy Nebulin-Related Early-Onset Distal Myopathy NEB neonatal adrenoleukodystrophy neonatal_adrenoleukodystrophy Neonatal Adrenoleukodystrophy PEX11B neonatal glycine encephalopathy neonatal_glycine_encephalopathy Neonatal Glycine Encephalopathy GLDC neonatal glycine encephalopathy neonatal_glycine_encephalopathy Neonatal Glycine Encephalopathy GCSH neonatal glycine encephalopathy neonatal_glycine_encephalopathy Neonatal Glycine Encephalopathy AMT neonatal inflammatory skin and bowel disease neonatal_inflammatory_skin_and_bowel_disease Neonatal Inflammatory Skin and Bowel Disease EGFR neonatal inflammatory skin and bowel disease neonatal_inflammatory_skin_and_bowel_disease Neonatal Inflammatory Skin and Bowel Disease ADAM17 nephrotic syndrome, type 7 nephrotic_syndrome_type_7 Nephrotic Syndrome, Type 7 CFH neu-laxova syndrome 1 neu_laxova_syndrome_1 Neu-Laxova Syndrome 1 PSAT1 DOID:0080076 neuroblastoma neuroblastoma Neuroblastoma MIR184 DOID:769 neurofibromatosis-noonan syndrome neurofibromatosis_noonan_syndrome Neurofibromatosis-Noonan Syndrome MAP2K2 neuropathy with hearing impairment neuropathy_with_hearing_impairment Neuropathy with Hearing Impairment GJB3 neuropathy, hereditary motor and sensory, type via neuropathy_hereditary_motor_and_sensory_type_via Neuropathy, Hereditary Motor and Sensory, Type Via SLC25A46 DOID:0080068 neutrophil-specific granule deficiency neutrophil_specific_granule_deficiency Neutrophil-Specific Granule Deficiency SMARCD2 neutrophilia, hereditary neutrophilia_hereditary Neutrophilia, Hereditary MIR223 DOID:0090120 niemann-pick disease type c, adult neurologic onset niemann_pick_disease_type_c_adult_neurologic_onset Niemann-Pick Disease Type C, Adult Neurologic Onset NPC2 niemann-pick disease type c, adult neurologic onset niemann_pick_disease_type_c_adult_neurologic_onset Niemann-Pick Disease Type C, Adult Neurologic Onset NPC1 niemann-pick disease type c, juvenile neurologic onset niemann_pick_disease_type_c_juvenile_neurologic_onset Niemann-Pick Disease Type C, Juvenile Neurologic Onset NPC2 niemann-pick disease type c, juvenile neurologic onset niemann_pick_disease_type_c_juvenile_neurologic_onset Niemann-Pick Disease Type C, Juvenile Neurologic Onset NPC1 niemann-pick disease type c, late infantile neurologic onset niemann_pick_disease_type_c_late_infantile_neurologic_onset Niemann-Pick Disease Type C, Late Infantile Neurologic Onset NPC2 niemann-pick disease type c, late infantile neurologic onset niemann_pick_disease_type_c_late_infantile_neurologic_onset Niemann-Pick Disease Type C, Late Infantile Neurologic Onset NPC1 niemann-pick disease type c, severe early infantile neurologic onset niemann_pick_disease_type_c_severe_early_infantile_neurologic_onset Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset NPC2 niemann-pick disease type c, severe early infantile neurologic onset niemann_pick_disease_type_c_severe_early_infantile_neurologic_onset Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset NPC1 niemann-pick disease type c, severe perinatal form niemann_pick_disease_type_c_severe_perinatal_form Niemann-Pick Disease Type C, Severe Perinatal Form NPC2 niemann-pick disease type c, severe perinatal form niemann_pick_disease_type_c_severe_perinatal_form Niemann-Pick Disease Type C, Severe Perinatal Form NPC1 niemann-pick disease, type c1 niemann_pick_disease_type_c1_2 Niemann-Pick Disease, Type C1 MIR143 DOID:0070113 niemann-pick disease, type c1 niemann_pick_disease_type_c1_2 Niemann-Pick Disease, Type C1 MIR98 DOID:0070113 nijmegen breakage syndrome-like disorder nijmegen_breakage_syndrome_like_disorder Nijmegen Breakage Syndrome-Like Disorder MRE11 nodular urticaria pigmentosa nodular_urticaria_pigmentosa Nodular Urticaria Pigmentosa KIT non-classic congenital lipoid adrenal hyperplasia due to star deficency non_classic_congenital_lipoid_adrenal_hyperplasia_due_to_star_deficency Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency STAR non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy non_progressive_predominantly_posterior_cavitating_leukoencephalopathy_with_peripheral_neuropathy Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy APOPT1 non-syndromic male infertility due to sperm motility disorder non_syndromic_male_infertility_due_to_sperm_motility_disorder Non-Syndromic Male Infertility Due to Sperm Motility Disorder SLC26A8 non-syndromic male infertility due to sperm motility disorder non_syndromic_male_infertility_due_to_sperm_motility_disorder Non-Syndromic Male Infertility Due to Sperm Motility Disorder SPAG17 non-syndromic male infertility due to sperm motility disorder non_syndromic_male_infertility_due_to_sperm_motility_disorder Non-Syndromic Male Infertility Due to Sperm Motility Disorder Sep-12 non-syndromic male infertility due to sperm motility disorder non_syndromic_male_infertility_due_to_sperm_motility_disorder Non-Syndromic Male Infertility Due to Sperm Motility Disorder DNAH1 non-syndromic male infertility due to sperm motility disorder non_syndromic_male_infertility_due_to_sperm_motility_disorder Non-Syndromic Male Infertility Due to Sperm Motility Disorder CFAP43 non-syndromic male infertility due to sperm motility disorder non_syndromic_male_infertility_due_to_sperm_motility_disorder Non-Syndromic Male Infertility Due to Sperm Motility Disorder CFAP44 non-syndromic male infertility due to sperm motility disorder non_syndromic_male_infertility_due_to_sperm_motility_disorder Non-Syndromic Male Infertility Due to Sperm Motility Disorder CATSPER1 nonalcoholic fatty liver disease nonalcoholic_fatty_liver_disease Nonalcoholic Fatty Liver Disease MIR10B DOID:0080208 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism NSMF normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism KISS1 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism WDR11 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism HS6ST1 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism SPRY4 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism PROKR2 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism FGF17 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism CHD7 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism ANOS1 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism DUSP6 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism FGF8 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism FGFR1 normosmic congenital hypogonadotropic hypogonadism normosmic_congenital_hypogonadotropic_hypogonadism Normosmic Congenital Hypogonadotropic Hypogonadism GNRH1 obesity due to sim1 deficiency obesity_due_to_sim1_deficiency Obesity Due to Sim1 Deficiency SIM1 occipital encephalocele occipital_encephalocele Occipital Encephalocele DACT1 okihiro syndrome due to a point mutation okihiro_syndrome_due_to_a_point_mutation Okihiro Syndrome Due to a Point Mutation SALL4 omodysplasia 2 omodysplasia_2 Omodysplasia 2 FZD2 optic atrophy 1 optic_atrophy_1 Optic Atrophy 1 DNM1L oral squamous cell carcinoma oral_squamous_cell_carcinoma Oral Squamous Cell Carcinoma MIR100 DOID:0050866 oral squamous cell carcinoma oral_squamous_cell_carcinoma Oral Squamous Cell Carcinoma MIR193A DOID:0050866 osteogenesis imperfecta, type ii osteogenesis_imperfecta_type_ii Osteogenesis Imperfecta, Type Ii PPIB DOID:0110341 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii CREB3L1 DOID:0110339 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii CRTAP DOID:0110339 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii P3H1 DOID:0110339 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii SERPINF1 DOID:0110339 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii PPIB DOID:0110339 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii BMP1 DOID:0110339 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii SERPINH1 DOID:0110339 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv SERPINF1 DOID:0110340 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv SP7 DOID:0110340 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv TMEM38B DOID:0110340 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv WNT1 DOID:0110340 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv PPIB DOID:0110340 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv CRTAP DOID:0110340 osteogenic sarcoma osteogenic_sarcoma Osteogenic Sarcoma MIR140 DOID:3347 osteopetrosis, autosomal recessive 6 osteopetrosis_autosomal_recessive_6_2 Osteopetrosis, Autosomal Recessive 6 TCIRG1 DOID:0110945 osteopetrosis, autosomal recessive 6 osteopetrosis_autosomal_recessive_6_2 Osteopetrosis, Autosomal Recessive 6 CLCN7 DOID:0110945 osteosclerosis-developmental delay-craniosynostosis syndrome osteosclerosis_developmental_delay_craniosynostosis_syndrome Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome LRP5 otofaciocervical syndrome 1 otofaciocervical_syndrome_1 Otofaciocervical Syndrome 1 PAX1 ovarian cancer ovarian_cancer Ovarian Cancer MIR15A DOID:2394 ovarian cancer ovarian_cancer Ovarian Cancer MIR210 DOID:2394 ovarian cancer ovarian_cancer Ovarian Cancer MIR223 DOID:2394 ovarian cancer ovarian_cancer Ovarian Cancer MIR34B DOID:2394 ovarian cancer ovarian_cancer Ovarian Cancer MIRLET7C DOID:2394 ovarian cancer ovarian_cancer Ovarian Cancer MIRLET7G DOID:2394 ovarian cancer ovarian_cancer Ovarian Cancer MIRLET7D DOID:2394 ovarian cancer ovarian_cancer Ovarian Cancer MIRLET7I DOID:2394 ovarian cancer ovarian_cancer Ovarian Cancer MIR31 DOID:2394 ovarian epithelial cancer ovarian_epithelial_cancer Ovarian Epithelial Cancer MIR376C ovarian epithelial cancer ovarian_epithelial_cancer Ovarian Epithelial Cancer MIR376B ovarian epithelial cancer ovarian_epithelial_cancer Ovarian Epithelial Cancer MIR377 ovarian epithelial cancer ovarian_epithelial_cancer Ovarian Epithelial Cancer MIR432 ovarian epithelial cancer ovarian_epithelial_cancer Ovarian Epithelial Cancer MIRLET7A3 ovarian epithelial cancer ovarian_epithelial_cancer Ovarian Epithelial Cancer MIR495 ovarian epithelial cancer ovarian_epithelial_cancer Ovarian Epithelial Cancer MIR337 ovarian epithelial cancer ovarian_epithelial_cancer Ovarian Epithelial Cancer MIR376A1 ovary adenocarcinoma ovary_adenocarcinoma Ovary Adenocarcinoma INHBA DOID:3713 palmoplantar keratoderma, norrbotten recessive type palmoplantar_keratoderma_norrbotten_recessive_type Palmoplantar Keratoderma, Norrbotten Recessive Type SLURP1 palmoplantar keratoderma, punctate type ia palmoplantar_keratoderma_punctate_type_ia Palmoplantar Keratoderma, Punctate Type Ia COL14A1 DOID:0080214 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR34B DOID:4905 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR34C DOID:4905 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR15A DOID:4905 parkinson disease 2, autosomal recessive juvenile parkinson_disease_2_autosomal_recessive_juvenile Parkinson Disease 2, Autosomal Recessive Juvenile VPS13C DOID:0060368 parkinson disease 2, autosomal recessive juvenile parkinson_disease_2_autosomal_recessive_juvenile Parkinson Disease 2, Autosomal Recessive Juvenile PINK1 DOID:0060368 parkinson disease 2, autosomal recessive juvenile parkinson_disease_2_autosomal_recessive_juvenile Parkinson Disease 2, Autosomal Recessive Juvenile PODXL DOID:0060368 parkinson disease 2, autosomal recessive juvenile parkinson_disease_2_autosomal_recessive_juvenile Parkinson Disease 2, Autosomal Recessive Juvenile PARK7 DOID:0060368 parkinson disease 2, autosomal recessive juvenile parkinson_disease_2_autosomal_recessive_juvenile Parkinson Disease 2, Autosomal Recessive Juvenile DNAJC6 DOID:0060368 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset MIR433 DOID:14330 partial atrioventricular canal partial_atrioventricular_canal Partial Atrioventricular Canal GATA6 partial atrioventricular canal partial_atrioventricular_canal Partial Atrioventricular Canal GATA4 partial atrioventricular canal partial_atrioventricular_canal Partial Atrioventricular Canal CRELD1 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome partial_corpus_callosum_agenesis_cerebellar_vermis_hypoplasia_with_posterior_fossa_cysts_syndrome Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome KPNA7 partial hydatidiform mole partial_hydatidiform_mole Partial Hydatidiform Mole NLRP7 partial hydatidiform mole partial_hydatidiform_mole Partial Hydatidiform Mole KHDC3L pediatric systemic lupus erythematosus pediatric_systemic_lupus_erythematosus Pediatric Systemic Lupus Erythematosus C1R peeling skin syndrome 2 peeling_skin_syndrome_2 Peeling Skin Syndrome 2 CSTA peeling skin syndrome 3 peeling_skin_syndrome_3 Peeling Skin Syndrome 3 FLG2 pelizaeus-merzbacher disease in female carriers pelizaeus_merzbacher_disease_in_female_carriers Pelizaeus-Merzbacher Disease in Female Carriers PLP1 pelizaeus-merzbacher disease, classic form pelizaeus_merzbacher_disease_classic_form Pelizaeus-Merzbacher Disease, Classic Form PLP1 pelizaeus-merzbacher disease, transitional form pelizaeus_merzbacher_disease_transitional_form Pelizaeus-Merzbacher Disease, Transitional Form PLP1 pepck 1 deficiency pepck_1_deficiency Pepck 1 Deficiency PCK2 pepck 1 deficiency pepck_1_deficiency Pepck 1 Deficiency PCK1 periodic paralysis with later-onset distal motor neuropathy periodic_paralysis_with_later_onset_distal_motor_neuropathy Periodic Paralysis with Later-Onset Distal Motor Neuropathy MT-ATP8 periodic paralysis with later-onset distal motor neuropathy periodic_paralysis_with_later_onset_distal_motor_neuropathy Periodic Paralysis with Later-Onset Distal Motor Neuropathy MT-ATP6 periodic paralysis with transient compartment-like syndrome periodic_paralysis_with_transient_compartment_like_syndrome Periodic Paralysis with Transient Compartment-Like Syndrome CACNA1S peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX11B DOID:0050444 peroxisome biogenesis disorder 1b peroxisome_biogenesis_disorder_1b Peroxisome Biogenesis Disorder 1b PEX14 DOID:0050444 persistent hyperplastic primary vitreous persistent_hyperplastic_primary_vitreous Persistent Hyperplastic Primary Vitreous NDP DOID:0060282 phakomatosis cesioflammea phakomatosis_cesioflammea Phakomatosis Cesioflammea GNAQ phakomatosis cesioflammea phakomatosis_cesioflammea Phakomatosis Cesioflammea GNA11 phakomatosis cesiomarmorata phakomatosis_cesiomarmorata Phakomatosis Cesiomarmorata GNA11 phakomatosis pigmentokeratotica phakomatosis_pigmentokeratotica Phakomatosis Pigmentokeratotica HRAS pharyngitis pharyngitis Pharyngitis MIR452 DOID:2275 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome pigmentation_defects_palmoplantar_keratoderma_skin_carcinoma_syndrome Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome SASH1 pituitary adenoma pituitary_adenoma Pituitary Adenoma MIR15A DOID:3829 pituitary adenoma pituitary_adenoma Pituitary Adenoma MIR16-1 DOID:3829 plaque-form urticaria pigmentosa plaque_form_urticaria_pigmentosa Plaque-Form Urticaria Pigmentosa KIT platelet disorder, familial, with associated myeloid malignancy platelet_disorder_familial_with_associated_myeloid_malignancy Platelet Disorder, Familial, with Associated Myeloid Malignancy ETV6 platelet disorder, familial, with associated myeloid malignancy platelet_disorder_familial_with_associated_myeloid_malignancy Platelet Disorder, Familial, with Associated Myeloid Malignancy ANKRD26 pmp2-related charcot-marie-tooth disease type 1 pmp2_related_charcot_marie_tooth_disease_type_1 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 PMP2 pol iii-related leukodystrophies pol_iii_related_leukodystrophies Pol Iii-Related Leukodystrophies POLR3B pol iii-related leukodystrophies pol_iii_related_leukodystrophies Pol Iii-Related Leukodystrophies POLR3A pol iii-related leukodystrophies pol_iii_related_leukodystrophies Pol Iii-Related Leukodystrophies POLR1C polycystic kidney disease polycystic_kidney_disease Polycystic Kidney Disease MIR15A polycystic liver disease polycystic_liver_disease Polycystic Liver Disease MIR15A DOID:0050770 polydactyly cleft lip palate psychomotor retardation polydactyly_cleft_lip_palate_psychomotor_retardation Polydactyly Cleft Lip Palate Psychomotor Retardation TCTN3 polydactyly cleft lip palate psychomotor retardation polydactyly_cleft_lip_palate_psychomotor_retardation Polydactyly Cleft Lip Palate Psychomotor Retardation TMEM216 polydactyly cleft lip palate psychomotor retardation polydactyly_cleft_lip_palate_psychomotor_retardation Polydactyly Cleft Lip Palate Psychomotor Retardation PDE6D polydactyly cleft lip palate psychomotor retardation polydactyly_cleft_lip_palate_psychomotor_retardation Polydactyly Cleft Lip Palate Psychomotor Retardation OFD1 polydactyly cleft lip palate psychomotor retardation polydactyly_cleft_lip_palate_psychomotor_retardation Polydactyly Cleft Lip Palate Psychomotor Retardation KIAA0753 polydactyly cleft lip palate psychomotor retardation polydactyly_cleft_lip_palate_psychomotor_retardation Polydactyly Cleft Lip Palate Psychomotor Retardation KIF7 polydactyly, postaxial, type a1 polydactyly_postaxial_type_a1 Polydactyly, Postaxial, Type A1 IQCE polydactyly, postaxial, type a1 polydactyly_postaxial_type_a1 Polydactyly, Postaxial, Type A1 ZNF141 polydactyly, preaxial ii polydactyly_preaxial_ii Polydactyly, Preaxial Ii SHH polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan_body_myopathy_1_with_or_without_immunodeficiency Polyglucosan Body Myopathy 1 with or Without Immunodeficiency RNF31 polymerase proofreading-related adenomatous polyposis polymerase_proofreading_related_adenomatous_polyposis Polymerase Proofreading-Related Adenomatous Polyposis POLE polymerase proofreading-related adenomatous polyposis polymerase_proofreading_related_adenomatous_polyposis Polymerase Proofreading-Related Adenomatous Polyposis POLD1 polymicrogyria, bilateral perisylvian, x-linked polymicrogyria_bilateral_perisylvian_x_linked Polymicrogyria, Bilateral Perisylvian, X-Linked ADGRG1 polymicrogyria, bilateral perisylvian, x-linked polymicrogyria_bilateral_perisylvian_x_linked Polymicrogyria, Bilateral Perisylvian, X-Linked PI4KA pontocerebellar hypoplasia type 1 pontocerebellar_hypoplasia_type_1 Pontocerebellar Hypoplasia Type 1 VRK1 pontocerebellar hypoplasia type 1 pontocerebellar_hypoplasia_type_1 Pontocerebellar Hypoplasia Type 1 EXOSC8 pontocerebellar hypoplasia type 1 pontocerebellar_hypoplasia_type_1 Pontocerebellar Hypoplasia Type 1 RARS2 pontocerebellar hypoplasia, type 2e pontocerebellar_hypoplasia_type_2e Pontocerebellar Hypoplasia, Type 2e TSEN54 DOID:0060271 pontocerebellar hypoplasia, type 2e pontocerebellar_hypoplasia_type_2e Pontocerebellar Hypoplasia, Type 2e TSEN34 DOID:0060271 pontocerebellar hypoplasia, type 2e pontocerebellar_hypoplasia_type_2e Pontocerebellar Hypoplasia, Type 2e TSEN15 DOID:0060271 pontocerebellar hypoplasia, type 2e pontocerebellar_hypoplasia_type_2e Pontocerebellar Hypoplasia, Type 2e SEPSECS DOID:0060271 pontocerebellar hypoplasia, type 2e pontocerebellar_hypoplasia_type_2e Pontocerebellar Hypoplasia, Type 2e TSEN2 DOID:0060271 porokeratosis 1, multiple types porokeratosis_1_multiple_types Porokeratosis 1, Multiple Types MVK porokeratotic eccrine ostial and dermal duct nevus porokeratotic_eccrine_ostial_and_dermal_duct_nevus Porokeratotic Eccrine Ostial and Dermal Duct Nevus GJB2 postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes DOK7 postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes LRP4 postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes MUSK postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes SCN4A postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes COL13A1 postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes CHRND postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes AGRN postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes AK9 postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes CHRNA1 postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes CHRNB1 postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes CHRNE prader-willi-like syndrome due to a point mutation prader_willi_like_syndrome_due_to_a_point_mutation Prader-Willi-Like Syndrome Due to a Point Mutation SIM1 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia ZBTB16 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia TCL1A precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia SET precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia HNRNPH1 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia DDX3X precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia CNOT3 precursor t-cell acute lymphoblastic leukemia precursor_t_cell_acute_lymphoblastic_leukemia Precursor T-Cell Acute Lymphoblastic Leukemia SALL2 prenatal benign hypophosphatasia prenatal_benign_hypophosphatasia Prenatal Benign Hypophosphatasia ALPL prenatal-onset spinal muscular atrophy with congenital bone fractures prenatal_onset_spinal_muscular_atrophy_with_congenital_bone_fractures Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures prenatal_onset_spinal_muscular_atrophy_with_congenital_bone_fractures Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures ASCC1 presynaptic congenital myasthenic syndromes presynaptic_congenital_myasthenic_syndromes Presynaptic Congenital Myasthenic Syndromes SLC5A7 presynaptic congenital myasthenic syndromes presynaptic_congenital_myasthenic_syndromes Presynaptic Congenital Myasthenic Syndromes SNAP25 presynaptic congenital myasthenic syndromes presynaptic_congenital_myasthenic_syndromes Presynaptic Congenital Myasthenic Syndromes SYT2 presynaptic congenital myasthenic syndromes presynaptic_congenital_myasthenic_syndromes Presynaptic Congenital Myasthenic Syndromes VAMP1 presynaptic congenital myasthenic syndromes presynaptic_congenital_myasthenic_syndromes Presynaptic Congenital Myasthenic Syndromes SLC25A1 presynaptic congenital myasthenic syndromes presynaptic_congenital_myasthenic_syndromes Presynaptic Congenital Myasthenic Syndromes SLC18A3 presynaptic congenital myasthenic syndromes presynaptic_congenital_myasthenic_syndromes Presynaptic Congenital Myasthenic Syndromes CHAT presynaptic congenital myasthenic syndromes presynaptic_congenital_myasthenic_syndromes Presynaptic Congenital Myasthenic Syndromes COL13A1 presynaptic congenital myasthenic syndromes presynaptic_congenital_myasthenic_syndromes Presynaptic Congenital Myasthenic Syndromes MYO9A presynaptic congenital myasthenic syndromes presynaptic_congenital_myasthenic_syndromes Presynaptic Congenital Myasthenic Syndromes AGRN primary cutaneous anaplastic large cell lymphoma primary_cutaneous_anaplastic_large_cell_lymphoma Primary Cutaneous Anaplastic Large Cell Lymphoma NPM1 primary cutaneous anaplastic large cell lymphoma primary_cutaneous_anaplastic_large_cell_lymphoma Primary Cutaneous Anaplastic Large Cell Lymphoma TYK2 primary fanconi syndrome primary_fanconi_syndrome Primary Fanconi Syndrome SLC34A1 primary fanconi syndrome primary_fanconi_syndrome Primary Fanconi Syndrome EHHADH primary hypereosinophilic syndrome primary_hypereosinophilic_syndrome Primary Hypereosinophilic Syndrome PDGFRB primary hypereosinophilic syndrome primary_hypereosinophilic_syndrome Primary Hypereosinophilic Syndrome PDGFRA primary hypereosinophilic syndrome primary_hypereosinophilic_syndrome Primary Hypereosinophilic Syndrome FIP1L1 primary hypereosinophilic syndrome primary_hypereosinophilic_syndrome Primary Hypereosinophilic Syndrome FGFR1 primary hypereosinophilic syndrome primary_hypereosinophilic_syndrome Primary Hypereosinophilic Syndrome ETV6 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection primary_immunodeficiency_with_post_measles_mumps_rubella_vaccine_viral_infection Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection STAT2 primary lateral sclerosis, adult, 1 primary_lateral_sclerosis_adult_1 Primary Lateral Sclerosis, Adult, 1 SPG7 primary lateral sclerosis, juvenile primary_lateral_sclerosis_juvenile Primary Lateral Sclerosis, Juvenile ERLIN2 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome primary_microcephaly_mild_intellectual_disability_young_onset_diabetes_syndrome Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome TRMT10A primary microcephaly-mild intellectual disability-young-onset diabetes syndrome primary_microcephaly_mild_intellectual_disability_young_onset_diabetes_syndrome Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome PPP1R15B prkar1b-related neurodegenerative dementia with intermediate filaments prkar1b_related_neurodegenerative_dementia_with_intermediate_filaments Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments PRKAR1B progeria-associated arthropathy progeria_associated_arthropathy Progeria-Associated Arthropathy LMNA progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 TK2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 RRM2B progressive non-fluent aphasia progressive_non_fluent_aphasia Progressive Non-Fluent Aphasia PSEN1 prostate cancer prostate_cancer Prostate Cancer MIR203A DOID:10286 prostate cancer prostate_cancer Prostate Cancer MIR106B DOID:10286 prostate cancer prostate_cancer Prostate Cancer MIR127 DOID:10286 prp systemic amyloidosis prp_systemic_amyloidosis Prp Systemic Amyloidosis PRNP pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa pseudoxanthoma_elasticum_like_skin_manifestations_with_retinitis_pigmentosa Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa GGCX pseudoxanthomatous diffuse cutaneous mastocytosis pseudoxanthomatous_diffuse_cutaneous_mastocytosis Pseudoxanthomatous Diffuse Cutaneous Mastocytosis KIT psoriasis 14, pustular psoriasis_14_pustular Psoriasis 14, Pustular AP1S3 pulmonary hypertension, primary, 1 pulmonary_hypertension_primary_1 Pulmonary Hypertension, Primary, 1 MIR204 pulmonary venoocclusive disease 1, autosomal dominant pulmonary_venoocclusive_disease_1_autosomal_dominant Pulmonary Venoocclusive Disease 1, Autosomal Dominant EIF2AK4 pustulosis palmaris et plantaris pustulosis_palmaris_et_plantaris Pustulosis Palmaris Et Plantaris IL36RN pustulosis palmaris et plantaris pustulosis_palmaris_et_plantaris Pustulosis Palmaris Et Plantaris AP1S3 radial hemimelia radial_hemimelia Radial Hemimelia SHH radial hemimelia radial_hemimelia Radial Hemimelia LMBR1 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome radio_ulnar_synostosis_amegakaryocytic_thrombocytopenia_syndrome Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome MECOM ramon syndrome ramon_syndrome Ramon Syndrome ELMO2 rare isolated myopia rare_isolated_myopia Rare Isolated Myopia SCO2 rare isolated myopia rare_isolated_myopia Rare Isolated Myopia LRPAP1 rare isolated myopia rare_isolated_myopia Rare Isolated Myopia P3H2 recessive dystrophic epidermolysis bullosa-generalized other recessive_dystrophic_epidermolysis_bullosa_generalized_other_2 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other COL7A1 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome recessive_intellectual_disability_motor_dysfunction_multiple_joint_contractures_syndrome Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome ERLIN2 regressive spondylometaphyseal dysplasia regressive_spondylometaphyseal_dysplasia Regressive Spondylometaphyseal Dysplasia LBR renal agenesis, bilateral renal_agenesis_bilateral Renal Agenesis, Bilateral RET renal agenesis, bilateral renal_agenesis_bilateral Renal Agenesis, Bilateral GREB1L renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary HSPBAP1 DOID:4450 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary MIR200C DOID:4450 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary DIRC3 DOID:4450 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary MIR584 DOID:4450 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary MIR141 DOID:4450 renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated SFPQ renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated TFEB renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated PRCC renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated NONO renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated ASPSCR1 renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated CLTC renal cysts and diabetes syndrome renal_cysts_and_diabetes_syndrome Renal Cysts and Diabetes Syndrome HNF4A DOID:0111101 renal hypodysplasia/aplasia 3 renal_hypodysplasia_aplasia_3 Renal Hypodysplasia/aplasia 3 RET renal hypodysplasia/aplasia 3 renal_hypodysplasia_aplasia_3 Renal Hypodysplasia/aplasia 3 UPK3A renal hypodysplasia/aplasia 3 renal_hypodysplasia_aplasia_3 Renal Hypodysplasia/aplasia 3 FREM1 renal hypodysplasia/aplasia 3 renal_hypodysplasia_aplasia_3 Renal Hypodysplasia/aplasia 3 DSTYK renal hypodysplasia/aplasia 3 renal_hypodysplasia_aplasia_3 Renal Hypodysplasia/aplasia 3 BMP4 renal hypodysplasia/aplasia 3 renal_hypodysplasia_aplasia_3 Renal Hypodysplasia/aplasia 3 FRAS1 resistance to thyrotropin-releasing hormone syndrome resistance_to_thyrotropin_releasing_hormone_syndrome Resistance to Thyrotropin-Releasing Hormone Syndrome TRHR reticular dystrophy of retinal pigment epithelium reticular_dystrophy_of_retinal_pigment_epithelium Reticular Dystrophy of Retinal Pigment Epithelium RCBTB1 reunion island larsen syndrome reunion_island_larsen_syndrome Reunion Island Larsen Syndrome B4GALT7 rh-null, regulator type rh_null_regulator_type Rh-Null, Regulator Type RHD rh-null, regulator type rh_null_regulator_type Rh-Null, Regulator Type RHCE rhabdomyosarcoma rhabdomyosarcoma Rhabdomyosarcoma MIR29C DOID:3247 rhabdomyosarcoma rhabdomyosarcoma Rhabdomyosarcoma MIR29B2 DOID:3247 rheumatic heart disease rheumatic_heart_disease Rheumatic Heart Disease MIR328 DOID:14172 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis MIR150 DOID:7148 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis MIR132 DOID:7148 rigid spine muscular dystrophy 1 rigid_spine_muscular_dystrophy_1 Rigid Spine Muscular Dystrophy 1 ACTA1 DOID:0110633 ritscher-schinzel syndrome 1 ritscher_schinzel_syndrome_1 Ritscher-Schinzel Syndrome 1 CCDC22 DOID:0060571 robinow syndrome, autosomal recessive robinow_syndrome_autosomal_recessive Robinow Syndrome, Autosomal Recessive NXN DOID:0060764 rolandic epilepsy-speech dyspraxia syndrome rolandic_epilepsy_speech_dyspraxia_syndrome Rolandic Epilepsy-Speech Dyspraxia Syndrome SRPX2 rolandic epilepsy-speech dyspraxia syndrome rolandic_epilepsy_speech_dyspraxia_syndrome Rolandic Epilepsy-Speech Dyspraxia Syndrome GRIN2A rothmund-thomson syndrome type 2 rothmund_thomson_syndrome_type_2 Rothmund-Thomson Syndrome Type 2 RECQL4 schizophrenia schizophrenia Schizophrenia MIR198 DOID:5419 sclerocornea, autosomal dominant sclerocornea_autosomal_dominant Sclerocornea, Autosomal Dominant GJA8 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome segmental_outgrowth_lipomatosis_arteriovenous_malformation_epidermal_nevus_syndrome Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome PTEN segmental progressive overgrowth syndrome with fibroadipose hyperplasia segmental_progressive_overgrowth_syndrome_with_fibroadipose_hyperplasia Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia PIK3CA self-improving collodion baby self_improving_collodion_baby Self-Improving Collodion Baby TGM1 self-improving collodion baby self_improving_collodion_baby Self-Improving Collodion Baby ALOXE3 self-improving collodion baby self_improving_collodion_baby Self-Improving Collodion Baby ALOX12B semantic dementia semantic_dementia Semantic Dementia PSEN1 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly GLI2 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly NODAL semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly TDGF1 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly GAS1 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly PTCH1 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly CDON semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly DISP1 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly DLL1 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly FOXH1 senior-boichis syndrome senior_boichis_syndrome Senior-Boichis Syndrome TMEM67 senior-boichis syndrome senior_boichis_syndrome Senior-Boichis Syndrome DCDC2 senior-loken syndrome 1 senior_loken_syndrome_1 Senior-Loken Syndrome 1 TRAF3IP1 DOID:0050576 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly SHH septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly PTCH1 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly SIX3 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly TDGF1 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly ZIC2 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly TGIF1 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly NODAL septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly GLI2 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly DLL1 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly DISP1 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly FGF8 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly FOXH1 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly GAS1 septopreoptic holoprosencephaly septopreoptic_holoprosencephaly Septopreoptic Holoprosencephaly CDON severe congenital nemaline myopathy severe_congenital_nemaline_myopathy Severe Congenital Nemaline Myopathy LMOD3 severe congenital nemaline myopathy severe_congenital_nemaline_myopathy Severe Congenital Nemaline Myopathy KLHL41 severe congenital nemaline myopathy severe_congenital_nemaline_myopathy Severe Congenital Nemaline Myopathy KLHL40 severe congenital nemaline myopathy severe_congenital_nemaline_myopathy Severe Congenital Nemaline Myopathy ACTA1 severe congenital neutropenia autosomal dominant severe_congenital_neutropenia_autosomal_dominant Severe Congenital Neutropenia Autosomal Dominant GFI1 severe early-childhood-onset retinal dystrophy severe_early_childhood_onset_retinal_dystrophy Severe Early-Childhood-Onset Retinal Dystrophy SPATA7 severe early-childhood-onset retinal dystrophy severe_early_childhood_onset_retinal_dystrophy Severe Early-Childhood-Onset Retinal Dystrophy LCA5 severe early-childhood-onset retinal dystrophy severe_early_childhood_onset_retinal_dystrophy Severe Early-Childhood-Onset Retinal Dystrophy LRAT severe early-onset axonal neuropathy due to mfn2 deficiency severe_early_onset_axonal_neuropathy_due_to_mfn2_deficiency Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency MFN2 severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency severe_early_onset_obesity_insulin_resistance_syndrome_due_to_sh2b1_deficiency Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency SH2B1 severe hereditary thrombophilia due to congenital protein s deficiency severe_hereditary_thrombophilia_due_to_congenital_protein_s_deficiency Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency PROS1 severe intellectual disability and progressive spastic paraplegia severe_intellectual_disability_and_progressive_spastic_paraplegia Severe Intellectual Disability and Progressive Spastic Paraplegia AP4S1 severe intellectual disability and progressive spastic paraplegia severe_intellectual_disability_and_progressive_spastic_paraplegia Severe Intellectual Disability and Progressive Spastic Paraplegia AP4M1 severe intellectual disability and progressive spastic paraplegia severe_intellectual_disability_and_progressive_spastic_paraplegia Severe Intellectual Disability and Progressive Spastic Paraplegia AP4E1 severe intellectual disability and progressive spastic paraplegia severe_intellectual_disability_and_progressive_spastic_paraplegia Severe Intellectual Disability and Progressive Spastic Paraplegia AP4B1 severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome severe_intellectual_disability_progressive_postnatal_microcephaly_midline_stereotypic_hand_movements_syndrome_2 Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome IQSEC2 sezary's disease sezarys_disease Sezary's Disease CD28 DOID:8541 sezary's disease sezarys_disease Sezary's Disease MIR342 DOID:8541 sezary's disease sezarys_disease Sezary's Disease TNFRSF1B DOID:8541 short stature-advanced bone age-early-onset osteoarthritis syndrome short_stature_advanced_bone_age_early_onset_osteoarthritis_syndrome_2 Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome ACAN short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly IFT172 DOID:0110085 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly DYNC2LI1 DOID:0110085 short-rib thoracic dysplasia 1 with or without polydactyly short_rib_thoracic_dysplasia_1_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly CEP120 DOID:0110085 short-rib thoracic dysplasia 9 with or without polydactyly short_rib_thoracic_dysplasia_9_with_or_without_polydactyly Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly IFT172 DOID:0110097 sickle cell - hemoglobin d disease sickle_cell_hemoglobin_d_disease Sickle Cell - Hemoglobin D Disease HBB silver-russell syndrome due to a point mutation silver_russell_syndrome_due_to_a_point_mutation Silver-Russell Syndrome Due to a Point Mutation IGF2 silver-russell syndrome due to a point mutation silver_russell_syndrome_due_to_a_point_mutation Silver-Russell Syndrome Due to a Point Mutation CDKN1C skin disease skin_disease Skin Disease MIR203A DOID:37 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung TP73 DOID:5411 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung MIR21 DOID:5411 smarca4-deficient sarcoma of thorax smarca4_deficient_sarcoma_of_thorax Smarca4-Deficient Sarcoma of Thorax SMARCA4 smouldering systemic mastocytosis smouldering_systemic_mastocytosis Smouldering Systemic Mastocytosis KIT sodium channelopathy-related small fiber neuropathy sodium_channelopathy_related_small_fiber_neuropathy Sodium Channelopathy-Related Small Fiber Neuropathy SCN9A sodium channelopathy-related small fiber neuropathy sodium_channelopathy_related_small_fiber_neuropathy Sodium Channelopathy-Related Small Fiber Neuropathy SCN11A sotos syndrome 1 sotos_syndrome_1 Sotos Syndrome 1 APC2 DOID:14748 spastic paraplegia-paget disease of bone syndrome spastic_paraplegia_paget_disease_of_bone_syndrome Spastic Paraplegia-Paget Disease of Bone Syndrome VCP spermatogenic failure 6 spermatogenic_failure_6 Spermatogenic Failure 6 PICK1 DOID:0111156 spermatogenic failure 6 spermatogenic_failure_6 Spermatogenic Failure 6 DPY19L2 DOID:0111156 spinal muscular atrophy with respiratory distress type 2 spinal_muscular_atrophy_with_respiratory_distress_type_2 Spinal Muscular Atrophy with Respiratory Distress Type 2 LAS1L spinocerebellar ataxia 1 spinocerebellar_ataxia_1 Spinocerebellar Ataxia 1 MIR144 DOID:0050954 spinocerebellar ataxia 18 spinocerebellar_ataxia_18 Spinocerebellar Ataxia 18 IFRD1 DOID:0050969 spinocerebellar ataxia with axonal neuropathy type 2 spinocerebellar_ataxia_with_axonal_neuropathy_type_2 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 SETX spinocerebellar ataxia with axonal neuropathy type 2 spinocerebellar_ataxia_with_axonal_neuropathy_type_2 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 PIK3R5 spinocerebellar ataxia, autosomal recessive 3 spinocerebellar_ataxia_autosomal_recessive_3_2 Spinocerebellar Ataxia, Autosomal Recessive 3 SLC52A2 spinocerebellar ataxia, autosomal recessive 3 spinocerebellar_ataxia_autosomal_recessive_3_2 Spinocerebellar Ataxia, Autosomal Recessive 3 PEX6 spinocerebellar ataxia, x-linked 1 spinocerebellar_ataxia_x_linked_1 Spinocerebellar Ataxia, X-Linked 1 GJB1 spinocerebellar ataxia, x-linked 5 spinocerebellar_ataxia_x_linked_5 Spinocerebellar Ataxia, X-Linked 5 ATP2B3 spondylocostal dysostosis, autosomal recessive spondylocostal_dysostosis_autosomal_recessive Spondylocostal Dysostosis, Autosomal Recessive RIPPLY2 spondylocostal dysostosis, autosomal recessive spondylocostal_dysostosis_autosomal_recessive Spondylocostal Dysostosis, Autosomal Recessive MESP2 spondylocostal dysostosis, autosomal recessive spondylocostal_dysostosis_autosomal_recessive Spondylocostal Dysostosis, Autosomal Recessive LFNG spondylocostal dysostosis, autosomal recessive spondylocostal_dysostosis_autosomal_recessive Spondylocostal Dysostosis, Autosomal Recessive HES7 spondylocostal dysostosis, autosomal recessive spondylocostal_dysostosis_autosomal_recessive Spondylocostal Dysostosis, Autosomal Recessive DLL3 spondylodysplastic ehlers-danlos syndrome spondylodysplastic_ehlers_danlos_syndrome Spondylodysplastic Ehlers-Danlos Syndrome B3GALT6 spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration spondyloepimetaphyseal_dysplasia_x_linked_with_mental_deterioration_2 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration AIFM1 spondylometaphyseal dysplasia, algerian type spondylometaphyseal_dysplasia_algerian_type_2 Spondylometaphyseal Dysplasia, Algerian Type COL2A1 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis sporadic_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_sclerosis Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis WT1 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis sporadic_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_sclerosis Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis PLCE1 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis sporadic_idiopathic_steroid_resistant_nephrotic_syndrome_with_focal_segmental_hyalinosis Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis CD2AP sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis sporadic_idiopathic_steroid_resistant_nephrotic_syndrome_with_focal_segmental_hyalinosis Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis NPHS2 sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes sporadic_idiopathic_steroid_resistant_nephrotic_syndrome_with_minimal_changes Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes NPHS2 sporadic secreting paraganglioma sporadic_secreting_paraganglioma Sporadic Secreting Paraganglioma EPAS1 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck MIR98 DOID:5520 susceptibility to localized juvenile periodontitis susceptibility_to_localized_juvenile_periodontitis Susceptibility to Localized Juvenile Periodontitis FPR1 symptomatic form of coffin-lowry syndrome in female carriers symptomatic_form_of_coffin_lowry_syndrome_in_female_carriers Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers RPS6KA3 symptomatic form of hemophilia a in female carriers symptomatic_form_of_hemophilia_a_in_female_carriers Symptomatic Form of Hemophilia a in Female Carriers F8 symptomatic form of muscular dystrophy of duchenne and becker in female carriers symptomatic_form_of_muscular_dystrophy_of_duchenne_and_becker_in_female_carriers Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers DMD systemic lupus erythematosus 16 systemic_lupus_erythematosus_16 Systemic Lupus Erythematosus 16 PRKCD systemic lupus erythematosus 16 systemic_lupus_erythematosus_16 Systemic Lupus Erythematosus 16 DNASE1 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease systemic_mastocytosis_with_an_associated_clonal_hematologic_non_mast_cell_lineage_disease Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease KIT t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta t_b_severe_combined_immunodeficiency_due_to_cd3delta_cd3epsilon_cd3zeta T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta CD3E t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta t_b_severe_combined_immunodeficiency_due_to_cd3delta_cd3epsilon_cd3zeta T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta CD3D t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta t_b_severe_combined_immunodeficiency_due_to_cd3delta_cd3epsilon_cd3zeta T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta CD247 t-cell leukemia t_cell_leukemia T-Cell Leukemia MIR19B2 DOID:715 t-cell leukemia t_cell_leukemia T-Cell Leukemia MIR20B DOID:715 t-cell leukemia t_cell_leukemia T-Cell Leukemia MIR143 DOID:715 t-cell leukemia t_cell_leukemia T-Cell Leukemia MIR130B DOID:715 t-cell leukemia t_cell_leukemia T-Cell Leukemia MIR106A DOID:715 t-cell leukemia t_cell_leukemia T-Cell Leukemia MIR93 DOID:715 t-cell leukemia t_cell_leukemia T-Cell Leukemia MIR92A2 DOID:715 tay-sachs disease, b variant, adult form tay_sachs_disease_b_variant_adult_form Tay-Sachs Disease, B Variant, Adult Form HEXA tay-sachs disease, b variant, infantile form tay_sachs_disease_b_variant_infantile_form Tay-Sachs Disease, B Variant, Infantile Form HEXA tay-sachs disease, b variant, juvenile form tay_sachs_disease_b_variant_juvenile_form Tay-Sachs Disease, B Variant, Juvenile Form HEXA telangiectasia macularis eruptiva perstans telangiectasia_macularis_eruptiva_perstans Telangiectasia Macularis Eruptiva Perstans KIT tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria tetrahydrobiopterin_responsive_hyperphenylalaninemia_phenylketonuria Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria PAH thalassemia thalassemia Thalassemia MIR144 DOID:10241 thoracolumbosacral spina bifida aperta thoracolumbosacral_spina_bifida_aperta Thoracolumbosacral Spina Bifida Aperta FUZ thoracolumbosacral spina bifida cystica thoracolumbosacral_spina_bifida_cystica Thoracolumbosacral Spina Bifida Cystica FUZ thrombocythemia with distal limb defects thrombocythemia_with_distal_limb_defects Thrombocythemia with Distal Limb Defects THPO thrombocytopenia robin sequence thrombocytopenia_robin_sequence Thrombocytopenia Robin Sequence KIF15 thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 MIR146A DOID:3969 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 MIR197 DOID:3962 thyroid ectopia thyroid_ectopia Thyroid Ectopia PAX8 thyroid ectopia thyroid_ectopia Thyroid Ectopia NKX2-5 tibia, hypoplasia or aplasia of, with polydactyly tibia_hypoplasia_or_aplasia_of_with_polydactyly Tibia, Hypoplasia or Aplasia of, with Polydactyly SHH tongue squamous cell carcinoma tongue_squamous_cell_carcinoma Tongue Squamous Cell Carcinoma MIR133B DOID:0050865 total spina bifida aperta total_spina_bifida_aperta Total Spina Bifida Aperta FUZ total spina bifida cystica total_spina_bifida_cystica Total Spina Bifida Cystica FUZ trichohepatoenteric syndrome 1 trichohepatoenteric_syndrome_1 Trichohepatoenteric Syndrome 1 SKIV2L trichorhinophalangeal syndrome type 1 and 3 trichorhinophalangeal_syndrome_type_1_and_3 Trichorhinophalangeal Syndrome Type 1 and 3 TRPS1 tubulinopathy-associated dysgyria tubulinopathy_associated_dysgyria Tubulinopathy-Associated Dysgyria TUBB3 tubulinopathy-associated dysgyria tubulinopathy_associated_dysgyria Tubulinopathy-Associated Dysgyria TUBB2B tubulinopathy-associated dysgyria tubulinopathy_associated_dysgyria Tubulinopathy-Associated Dysgyria TUBA1A typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy NEB typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy TPM2 typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy LMOD3 typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy KLHL41 typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy CFL2 typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy ACTA1 typical urticaria pigmentosa typical_urticaria_pigmentosa Typical Urticaria Pigmentosa KIT ulcerative colitis ulcerative_colitis Ulcerative Colitis MIR192 DOID:8577 uncombable hair syndrome 1 uncombable_hair_syndrome_1 Uncombable Hair Syndrome 1 TGM3 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy SLC13A5 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy SLC1A2 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy SCN8A undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy PPP3CA undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy NTRK2 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy NUS1 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy SYNJ1 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy WWOX undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy YWHAG undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy UBA5 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy TRAK1 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy SZT2 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy AARS undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy NECAP1 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy CNKSR2 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy DHDDS undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy CLTC undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy CACNA1A undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy AP3B2 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy KCNB1 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy DNM1 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy HCN1 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy KCNA2 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy EEF1A2 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy GRIN2D undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy GABRB2 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy FGF12 unilateral multicystic dysplastic kidney unilateral_multicystic_dysplastic_kidney Unilateral Multicystic Dysplastic Kidney HNF1B upper thoracic spina bifida aperta upper_thoracic_spina_bifida_aperta Upper Thoracic Spina Bifida Aperta FUZ upper thoracic spina bifida cystica upper_thoracic_spina_bifida_cystica Upper Thoracic Spina Bifida Cystica FUZ usher syndrome, type i usher_syndrome_type_i_2 Usher Syndrome, Type I USH1K DOID:0110833 usher syndrome, type i usher_syndrome_type_i_2 Usher Syndrome, Type I USH1H DOID:0110833 usher syndrome, type iiia usher_syndrome_type_iiia Usher Syndrome, Type Iiia MT-TS2 DOID:0110841 usher syndrome, type iiia usher_syndrome_type_iiia Usher Syndrome, Type Iiia CEP78 DOID:0110841 van maldergem syndrome 1 van_maldergem_syndrome_1 Van Maldergem Syndrome 1 FAT4 variant abeta2m amyloidosis variant_abeta2m_amyloidosis Variant Abeta2m Amyloidosis B2M vascular disease vascular_disease Vascular Disease MIR21 DOID:178 waardenburg syndrome, type 2e waardenburg_syndrome_type_2e Waardenburg Syndrome, Type 2e SNAI2 DOID:0110956 waardenburg syndrome, type 2e waardenburg_syndrome_type_2e Waardenburg Syndrome, Type 2e MITF DOID:0110956 waardenburg syndrome, type 2e waardenburg_syndrome_type_2e Waardenburg Syndrome, Type 2e EDNRB DOID:0110956 waardenburg syndrome, type 2e waardenburg_syndrome_type_2e Waardenburg Syndrome, Type 2e KITLG DOID:0110956 west syndrome west_syndrome West Syndrome NTRK2 DOID:0050562 west syndrome west_syndrome West Syndrome PIGA DOID:0050562 west syndrome west_syndrome West Syndrome SIK1 DOID:0050562 woolly hair syndrome woolly_hair_syndrome Woolly Hair Syndrome LIPH woolly hair syndrome woolly_hair_syndrome Woolly Hair Syndrome LPAR6 woolly hair syndrome woolly_hair_syndrome Woolly Hair Syndrome KRT74 woolly hair syndrome woolly_hair_syndrome Woolly Hair Syndrome KRT71 woolly hair syndrome woolly_hair_syndrome Woolly Hair Syndrome KRT25 x-linked complicated spastic paraplegia type 1 x_linked_complicated_spastic_paraplegia_type_1 X-Linked Complicated Spastic Paraplegia Type 1 L1CAM x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome x_linked_external_auditory_canal_atresia_dilated_internal_auditory_canal_facial_dysmorphism_syndrome X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome GPRASP2 x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome x_linked_intellectual_disability_limb_spasticity_retinal_dystrophy_diabetes_insipidus_syndrome X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome PRPS1 x-linked intellectual disability, golabi-ito-hall type x_linked_intellectual_disability_golabi_ito_hall_type X-Linked Intellectual Disability, Golabi-Ito-Hall Type PQBP1 x-linked intellectual disability, porteous type x_linked_intellectual_disability_porteous_type X-Linked Intellectual Disability, Porteous Type PQBP1 x-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome x_linked_keloid_scarring_reduced_joint_mobility_increased_optic_cup_to_disc_ratio_syndrome X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome FLNA x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability RPS6KA3 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability RAB39B x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability PAK3 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability ACSL4 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability MID2 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability SYP x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability TSPAN7 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability ZNF711 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability ZNF81 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability USP9X x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability USP27X x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability UPF3B x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability IQSEC2 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability MECP2 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability ARX x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability IL1RAPL1 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability ARHGEF6 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability ALG13 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability AGTR2 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability CNKSR2 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability CLCN4 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability DLG3 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability HCFC1 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability FTSJ1 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability GDI1 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability FRMPD4 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability DMD x-linked non-syndromic sensorineural deafness type dfn x_linked_non_syndromic_sensorineural_deafness_type_dfn X-Linked Non-Syndromic Sensorineural Deafness Type Dfn SMPX x-linked non-syndromic sensorineural deafness type dfn x_linked_non_syndromic_sensorineural_deafness_type_dfn X-Linked Non-Syndromic Sensorineural Deafness Type Dfn PRPS1 x-linked non-syndromic sensorineural deafness type dfn x_linked_non_syndromic_sensorineural_deafness_type_dfn X-Linked Non-Syndromic Sensorineural Deafness Type Dfn COL4A6 x-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome x_linked_recessive_intellectual_disability_macrocephaly_ciliary_dysfunction_syndrome X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome OFD1 xylt1-cdg xylt1_cdg Xylt1-Cdg XYLT1 zinc, elevated plasma zinc_elevated_plasma Zinc, Elevated Plasma PSTPIP1 zygodactyly type 3 zygodactyly_type_3 Zygodactyly Type 3 HOXD13 breast cancer breast_cancer Breast Cancer NBN DOID:3459 neural tube defects neural_tube_defects Neural Tube Defects SCRIB DOID:0080074 loose anagen hair syndrome loose_anagen_hair_syndrome Loose Anagen Hair Syndrome KRT75 neural tube defects neural_tube_defects Neural Tube Defects DACT1 DOID:0080074 medulloblastoma medulloblastoma Medulloblastoma APC DOID:0050902 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFAF5 DOID:3652 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome SETBP1 DOID:0050908 schizophrenia schizophrenia Schizophrenia DISC2 DOID:5419 breast cancer breast_cancer Breast Cancer ABRAXAS1 DOID:3459 osteoporosis osteoporosis Osteoporosis WNT1 DOID:11476 fetal akinesia deformation sequence fetal_akinesia_deformation_sequence Fetal Akinesia Deformation Sequence TUBB2B diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent SLC2A4 DOID:9352 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset PRKN DOID:14330 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFAF6 DOID:0060536 prostate cancer prostate_cancer Prostate Cancer FGFR4 DOID:10286 schizophrenia schizophrenia Schizophrenia DISC1 DOID:5419 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic PAX5 crigler-najjar syndrome, type i crigler_najjar_syndrome_type_i Crigler-Najjar Syndrome, Type I UGT1A4 DOID:3803 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma CDKN3 DOID:916 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome U2AF1 DOID:0050908 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 SCN5A hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial APOE DOID:13810 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia SETBP1 DOID:0050458 colorectal cancer colorectal_cancer Colorectal Cancer MT-CO1 DOID:9256 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NARS2 DOID:3652 lung cancer lung_cancer Lung Cancer MXRA5 DOID:3908 crigler-najjar syndrome, type ii crigler_najjar_syndrome_type_ii Crigler-Najjar Syndrome, Type Ii UGT1A4 testicular germ cell tumor testicular_germ_cell_tumor Testicular Germ Cell Tumor STK10 glaucoma 1, open angle, a glaucoma_1_open_angle_a Glaucoma 1, Open Angle, a CYP1B1 facioscapulohumeral muscular dystrophy 2 facioscapulohumeral_muscular_dystrophy_2 Facioscapulohumeral Muscular Dystrophy 2 DNMT3B cardiomyopathy, infantile hypertrophic cardiomyopathy_infantile_hypertrophic Cardiomyopathy, Infantile Hypertrophic MT-ATP8 alzheimer disease mitochondrial alzheimer_disease_mitochondrial Alzheimer Disease Mitochondrial MT-ND1 alzheimer disease mitochondrial alzheimer_disease_mitochondrial Alzheimer Disease Mitochondrial MT-ND2 hepatocellular carcinoma hepatocellular_carcinoma Hepatocellular Carcinoma MTUS1 DOID:916 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-ND6 DOID:0060536 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome POLG DOID:3652 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-ND5 DOID:0060536 total anomalous pulmonary venous return 1 total_anomalous_pulmonary_venous_return_1 Total Anomalous Pulmonary Venous Return 1 ANKRD1 DOID:4297 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary SETD2 DOID:4450 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck ING3 DOID:5520 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid SETBP1 DOID:9119 bardet-biedl syndrome 1 bardet_biedl_syndrome_1 Bardet-Biedl Syndrome 1 KIF7 DOID:0110123 basal cell carcinoma 1 basal_cell_carcinoma_1 Basal Cell Carcinoma 1 PTCH1 glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 H3F3A glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 IDH2 glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 HIST1H3A osteogenesis imperfecta, type xiv osteogenesis_imperfecta_type_xiv Osteogenesis Imperfecta, Type Xiv WNT1 DOID:0110343 vitiligo-associated multiple autoimmune disease susceptibility 6 vitiligo_associated_multiple_autoimmune_disease_susceptibility_6 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 PTPN22 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome IPW DOID:11983 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 H19 DOID:5176 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome NPAP1 DOID:11983 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome MKRN3-AS1 DOID:11983 silver-russell syndrome silver_russell_syndrome Silver-Russell Syndrome H19 DOID:14681 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent CDKAL1 DOID:9352 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 MAP2K1 DOID:3490 schizophrenia schizophrenia Schizophrenia DAOA DOID:5419 lung cancer lung_cancer Lung Cancer RASSF1 DOID:3908 osteoporosis osteoporosis Osteoporosis VDR DOID:11476 spondylocostal dysostosis 1, autosomal recessive spondylocostal_dysostosis_1_autosomal_recessive Spondylocostal Dysostosis 1, Autosomal Recessive MESP2 thyrotoxic periodic paralysis thyrotoxic_periodic_paralysis Thyrotoxic Periodic Paralysis CACNA1S limb-girdle muscular dystrophy limb_girdle_muscular_dystrophy Limb-Girdle Muscular Dystrophy DYSF hellp syndrome hellp_syndrome Hellp Syndrome HELLPAR DOID:13133 lung cancer lung_cancer Lung Cancer DLEC1 DOID:3908 alpha-ketoglutarate dehydrogenase deficiency alpha_ketoglutarate_dehydrogenase_deficiency Alpha-Ketoglutarate Dehydrogenase Deficiency OGDH prostate cancer prostate_cancer Prostate Cancer CD82 DOID:10286 influenza influenza Influenza IFITM3 DOID:8469 osteoarthritis osteoarthritis Osteoarthritis FRZB DOID:8398 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary DIRC2 DOID:4450 williams-beuren syndrome williams_beuren_syndrome Williams-Beuren Syndrome ELN DOID:1928 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome CCDC28B DOID:1935 psoriatic arthritis psoriatic_arthritis Psoriatic Arthritis NOD2 DOID:9008 hashimoto thyroiditis hashimoto_thyroiditis Hashimoto Thyroiditis CTLA4 DOID:7188 novelty seeking personality trait novelty_seeking_personality_trait Novelty Seeking Personality Trait DRD4 leiomyoma, uterine leiomyoma_uterine Leiomyoma, Uterine HMGA2 DOID:13223 progesterone resistance progesterone_resistance Progesterone Resistance PGR thyrotropin-releasing hormone deficiency thyrotropin_releasing_hormone_deficiency Thyrotropin-Releasing Hormone Deficiency TRH alzheimer disease alzheimer_disease Alzheimer Disease SORL1 DOID:10652 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CCL3 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis CIITA DOID:7148 bleeding disorder, platelet-type, 9 bleeding_disorder_platelet_type_9 Bleeding Disorder, Platelet-Type, 9 ITGA2 DOID:0111045 alpha-2-macroglobulin deficiency alpha_2_macroglobulin_deficiency Alpha-2-Macroglobulin Deficiency A2M acetyl-coa carboxylase deficiency acetyl_coa_carboxylase_deficiency Acetyl-Coa Carboxylase Deficiency ACACA autism 9 autism_9 Autism 9 MET schizophrenia schizophrenia Schizophrenia AKT1 DOID:5419 blepharospasm blepharospasm Blepharospasm DRD5 DOID:529 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome wilms_tumor_aniridia_genitourinary_anomalies_and_mental_retardation_syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome PAX6 DOID:14515 asthma asthma Asthma HLA-G DOID:2841 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy TAZ DOID:12930 facioscapulohumeral muscular dystrophy 1 facioscapulohumeral_muscular_dystrophy_1 Facioscapulohumeral Muscular Dystrophy 1 FRG1 DOID:11727 limb-girdle muscular dystrophy limb_girdle_muscular_dystrophy Limb-Girdle Muscular Dystrophy SGCB cri-du-chat syndrome cri_du_chat_syndrome Cri-Du-Chat Syndrome CTNND2 DOID:12580 legionellosis legionellosis Legionellosis TLR5 DOID:10458 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa AIPL1 DOID:10584 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy ACTC1 DOID:12930 schizophrenia schizophrenia Schizophrenia APOL2 DOID:5419 williams-beuren syndrome williams_beuren_syndrome Williams-Beuren Syndrome MLXIPL DOID:1928 peters-plus syndrome peters_plus_syndrome_2 Peters-Plus Syndrome PITX2 DOID:0080201 bardet-biedl syndrome bardet_biedl_syndrome Bardet-Biedl Syndrome TMEM67 DOID:1935 juvenile absence epilepsy juvenile_absence_epilepsy Juvenile Absence Epilepsy EFHC1 DOID:0060172 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome IGF2 DOID:5572 helicobacter pylori infection helicobacter_pylori_infection Helicobacter Pylori Infection PTPRZ1 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome MAGEL2 DOID:11983 pulmonary fibrosis, idiopathic pulmonary_fibrosis_idiopathic Pulmonary Fibrosis, Idiopathic SFTPA1 DOID:0050156 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy SGCD DOID:12930 schizophrenia schizophrenia Schizophrenia APOL4 DOID:5419 alcohol dependence alcohol_dependence Alcohol Dependence TAS2R16 DOID:0050741 schizophrenia schizophrenia Schizophrenia DTNBP1 DOID:5419 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy CSRP3 DOID:12930 xeroderma pigmentosum, variant type xeroderma_pigmentosum_variant_type Xeroderma Pigmentosum, Variant Type ERCC1 DOID:0110847 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy TMPO DOID:12930 cleft palate, isolated cleft_palate_isolated Cleft Palate, Isolated UBB DOID:674 melorheostosis melorheostosis Melorheostosis LEMD3 DOID:4253 hypertension, essential hypertension_essential Hypertension, Essential ATP1B1 DOID:10825 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis SLC22A4 DOID:7148 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy EYA4 DOID:12930 breast cancer breast_cancer Breast Cancer NQO2 DOID:3459 hypertension, essential hypertension_essential Hypertension, Essential NOS2 DOID:10825 limb-girdle muscular dystrophy limb_girdle_muscular_dystrophy Limb-Girdle Muscular Dystrophy SGCD prostate cancer prostate_cancer Prostate Cancer HIP1 DOID:10286 schizophrenia schizophrenia Schizophrenia DAO DOID:5419 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy VCL DOID:12930 hirschsprung disease 1 hirschsprung_disease_1 Hirschsprung Disease 1 NRTN DOID:10487 acetyl-coa acetyltransferase-2 deficiency acetyl_coa_acetyltransferase_2_deficiency_2 Acetyl-Coa Acetyltransferase-2 Deficiency ACAT2 acid phosphatase deficiency acid_phosphatase_deficiency Acid Phosphatase Deficiency ACP2 bleeding disorder, platelet-type, 14 bleeding_disorder_platelet_type_14 Bleeding Disorder, Platelet-Type, 14 TBXAS1 DOID:0111047 glutathione peroxidase deficiency glutathione_peroxidase_deficiency Glutathione Peroxidase Deficiency GPX1 hydroxyacyl glutathione hydrolase deficiency hydroxyacyl_glutathione_hydrolase_deficiency Hydroxyacyl Glutathione Hydrolase Deficiency HAGH hypertension, essential hypertension_essential Hypertension, Essential RGS5 DOID:10825 leukotriene c4 synthase deficiency leukotriene_c4_synthase_deficiency Leukotriene C4 Synthase Deficiency LTC4S phosphoenolpyruvate carboxykinase deficiency, mitochondrial phosphoenolpyruvate_carboxykinase_deficiency_mitochondrial Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial PCK2 plasma fibronectin deficiency plasma_fibronectin_deficiency Plasma Fibronectin Deficiency FN1 scoliosis, isolated 3 scoliosis_isolated_3 Scoliosis, Isolated 3 CHD7 trypsinogen deficiency trypsinogen_deficiency Trypsinogen Deficiency PRSS1 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy DSG2 DOID:12930 pulmonary fibrosis, idiopathic pulmonary_fibrosis_idiopathic Pulmonary Fibrosis, Idiopathic SFTPC DOID:0050156 central precocious puberty central_precocious_puberty Central Precocious Puberty KISS1R persistent mullerian duct syndrome persistent_mullerian_duct_syndrome Persistent Mullerian Duct Syndrome AMH DOID:0050791 persistent mullerian duct syndrome persistent_mullerian_duct_syndrome Persistent Mullerian Duct Syndrome AMHR2 DOID:0050791 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis PADI4 DOID:7148 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis NFKBIL1 DOID:7148 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis HLA-DRB1 DOID:7148 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis CD244 DOID:7148 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome MKRN3 DOID:11983 alpha-thalassemia alpha_thalassemia_2 Alpha-Thalassemia HBB DOID:1099 down syndrome down_syndrome Down Syndrome GATA1 DOID:14250 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis IL10 DOID:7148 neurilemmomatosis neurilemmomatosis Neurilemmomatosis LZTR1 DOID:3204 renal dysplasia diffuse cystic renal_dysplasia_diffuse_cystic Renal Dysplasia Diffuse Cystic BICC1 deafness-infertility syndrome deafness_infertility_syndrome Deafness-Infertility Syndrome STRC robinow syndrome robinow_syndrome Robinow Syndrome DVL1 DOID:0060254 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCC chromosome 15q13.3 deletion syndrome chromosome_15q133_deletion_syndrome Chromosome 15q13.3 Deletion Syndrome CHRNA7 DOID:0060394 obsessive-compulsive disorder obsessive_compulsive_disorder Obsessive-Compulsive Disorder BDNF DOID:10933 asthma asthma Asthma PHF11 DOID:2841 thrombophilia thrombophilia Thrombophilia MTHFR DOID:2452 autism spectrum disorder autism_spectrum_disorder Autism Spectrum Disorder SHANK2 DOID:0060041 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MORC2 DOID:10595 simpson-golabi-behmel syndrome simpson_golabi_behmel_syndrome Simpson-Golabi-Behmel Syndrome GPC4 DOID:0060248 holoprosencephaly holoprosencephaly Holoprosencephaly NODAL DOID:4621 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset SNCAIP DOID:14330 epilepsy, idiopathic generalized epilepsy_idiopathic_generalized Epilepsy, Idiopathic Generalized ME2 DOID:1827 pulmonary disease, chronic obstructive pulmonary_disease_chronic_obstructive Pulmonary Disease, Chronic Obstructive HMOX1 DOID:3083 systemic lupus erythematosus systemic_lupus_erythematosus Systemic Lupus Erythematosus BANK1 DOID:9074 pre-eclampsia pre_eclampsia Pre-Eclampsia EPHX1 DOID:10591 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy NEXN DOID:12930 holoprosencephaly holoprosencephaly Holoprosencephaly FOXH1 DOID:4621 vacterl association vacterl_association Vacterl Association HOXD13 DOID:14679 pre-eclampsia pre_eclampsia Pre-Eclampsia NOS3 DOID:10591 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy FKTN DOID:12930 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy TCAP DOID:12930 esophageal cancer esophageal_cancer Esophageal Cancer DLEC1 DOID:5041 anorexia nervosa anorexia_nervosa Anorexia Nervosa HTR2A DOID:8689 migraine with or without aura 1 migraine_with_or_without_aura_1 Migraine with or Without Aura 1 TNF DOID:6364 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 PTEN DOID:3962 migraine with or without aura 1 migraine_with_or_without_aura_1 Migraine with or Without Aura 1 ESR1 DOID:6364 diabetes mellitus, insulin-dependent diabetes_mellitus_insulin_dependent Diabetes Mellitus, Insulin-Dependent OAS1 DOID:9744 alzheimer disease alzheimer_disease Alzheimer Disease APBB2 DOID:10652 aniridia 1 aniridia_1 Aniridia 1 WT1 DOID:12271 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset NR4A2 DOID:14330 velocardiofacial syndrome velocardiofacial_syndrome Velocardiofacial Syndrome DGCR6 DOID:12583 deafness, autosomal dominant 48 deafness_autosomal_dominant_48 Deafness, Autosomal Dominant 48 MYO1A DOID:0110571 spinal muscular atrophy spinal_muscular_atrophy Spinal Muscular Atrophy GEMIN2 DOID:12377 thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 CCDC6 DOID:3969 multiminicore disease multiminicore_disease Multiminicore Disease SELENON gastric lymphoma gastric_lymphoma Gastric Lymphoma BCL10 DOID:10540 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome SLC5A7 DOID:3635 pulmonary disease, chronic obstructive pulmonary_disease_chronic_obstructive Pulmonary Disease, Chronic Obstructive SERPINA1 DOID:3083 thrombocytopenia 2 thrombocytopenia_2 Thrombocytopenia 2 MASTL fraser syndrome 1 fraser_syndrome_1 Fraser Syndrome 1 GRIP1 DOID:0090001 essential pentosuria essential_pentosuria Essential Pentosuria DCXR cone-rod dystrophy 2 cone_rod_dystrophy_2 Cone-Rod Dystrophy 2 PRPH2 DOID:0111005 deafness, aminoglycoside-induced deafness_aminoglycoside_induced Deafness, Aminoglycoside-Induced MT-TS1 lennox-gastaut syndrome lennox_gastaut_syndrome Lennox-Gastaut Syndrome MAPK10 DOID:0050561 mitochondrial myopathy, lethal, infantile mitochondrial_myopathy_lethal_infantile Mitochondrial Myopathy, Lethal, Infantile MT-TT muscular dystrophy-dystroglycanopathy , type a, 1 muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_1 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 POMT2 parkinson disease, mitochondrial parkinson_disease_mitochondrial Parkinson Disease, Mitochondrial MT-TT persistent polyclonal b-cell lymphocytosis persistent_polyclonal_b_cell_lymphocytosis Persistent Polyclonal B-Cell Lymphocytosis CARD11 thiopurine s methyltranferase deficiency thiopurine_s_methyltranferase_deficiency Thiopurine S Methyltranferase Deficiency TPMT dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy ACTN2 DOID:12930 velocardiofacial syndrome velocardiofacial_syndrome Velocardiofacial Syndrome DGCR2 DOID:12583 velocardiofacial syndrome velocardiofacial_syndrome Velocardiofacial Syndrome ESS2 DOID:12583 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy ANKRD1 DOID:12930 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy ABCC9 DOID:12930 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome ZNF592 DOID:0060364 recessive dystrophic epidermolysis bullosa recessive_dystrophic_epidermolysis_bullosa Recessive Dystrophic Epidermolysis Bullosa MMP1 DOID:0060642 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e DNAJB2 DOID:0110171 renal hypodysplasia/aplasia 1 renal_hypodysplasia_aplasia_1 Renal Hypodysplasia/aplasia 1 PAX2 DOID:14766 basal cell carcinoma, multiple basal_cell_carcinoma_multiple Basal Cell Carcinoma, Multiple PTCH1 ichthyosis, congenital, autosomal recessive 2 ichthyosis_congenital_autosomal_recessive_2 Ichthyosis, Congenital, Autosomal Recessive 2 ALOXE3 DOID:0060710 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy PSEN2 DOID:12930 autism autism Autism SNRPN DOID:12849 spinal muscular atrophy spinal_muscular_atrophy Spinal Muscular Atrophy SMNDC1 DOID:12377 collagen vi-related myopathy collagen_vi_related_myopathy Collagen Vi-Related Myopathy COL6A1 alzheimer disease alzheimer_disease Alzheimer Disease BLMH DOID:10652 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease DCTN2 DOID:10595 myostatin-related muscle hypertrophy myostatin_related_muscle_hypertrophy Myostatin-Related Muscle Hypertrophy MSTN DOID:0111072 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy ventricular_tachycardia_catecholaminergic_polymorphic_1_with_or_without_atrial_dysfunction_and_or_dilated_cardiomyopathy Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy CASQ2 DOID:0060675 hyperlipoproteinemia, type iv hyperlipoproteinemia_type_iv_2 Hyperlipoproteinemia, Type Iv APOA5 DOID:1172 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome H19-ICR DOID:5572 deafness, nonsyndromic sensorineural, mitochondrial deafness_nonsyndromic_sensorineural_mitochondrial Deafness, Nonsyndromic Sensorineural, Mitochondrial MT-CO1 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic SPINK5 dilated cardiomyopathy dilated_cardiomyopathy Dilated Cardiomyopathy PSEN1 DOID:12930 spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 DAZ2 spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 DAZ1 dilated cardiomyopathy 1t dilated_cardiomyopathy_1t Dilated Cardiomyopathy 1t TMPO DOID:0110452 primary familial brain calcification primary_familial_brain_calcification Primary Familial Brain Calcification SLC20A2 thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 NCOA4 DOID:3969 growth hormone secreting pituitary adenoma growth_hormone_secreting_pituitary_adenoma Growth Hormone Secreting Pituitary Adenoma GNAS DOID:6255 dyslexia 2 dyslexia_2 Dyslexia 2 KIAA0319 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TMEM138 DOID:0110980 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic PHF11 primary familial brain calcification primary_familial_brain_calcification Primary Familial Brain Calcification PDGFRB tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula CHD7 chromosome 15q13.3 deletion syndrome chromosome_15q133_deletion_syndrome Chromosome 15q13.3 Deletion Syndrome KLF13 DOID:0060394 parkinson disease 21 parkinson_disease_21 Parkinson Disease 21 DNAJC13 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula BRIP1 primary familial brain calcification primary_familial_brain_calcification Primary Familial Brain Calcification PDGFB tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCA tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula SOX2 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula MYCN tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula GLI3 anterior segment dysgenesis 1 anterior_segment_dysgenesis_1 Anterior Segment Dysgenesis 1 FOXE3 DOID:0060605 testicular microlithiasis testicular_microlithiasis Testicular Microlithiasis SLC34A2 ossification of the posterior longitudinal ligament of spine ossification_of_the_posterior_longitudinal_ligament_of_spine Ossification of the Posterior Longitudinal Ligament of Spine COL6A1 DOID:0060887 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive SBF1 DOID:0110195 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic HAVCR1 li-fraumeni syndrome li_fraumeni_syndrome Li-Fraumeni Syndrome CHEK2 DOID:3012 otospondylomegaepiphyseal dysplasia otospondylomegaepiphyseal_dysplasia Otospondylomegaepiphyseal Dysplasia COL2A1 DOID:0080026 thrombophilia thrombophilia Thrombophilia F13A1 DOID:2452 autism spectrum disorder autism_spectrum_disorder Autism Spectrum Disorder PTCHD1 DOID:0060041 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome PWRN1 DOID:11983 alzheimer disease alzheimer_disease Alzheimer Disease ACE DOID:10652 macular degeneration, age-related, 1 macular_degeneration_age_related_1 Macular Degeneration, Age-Related, 1 PLEKHA1 DOID:4448 autism spectrum disorder autism_spectrum_disorder Autism Spectrum Disorder RPL10 DOID:0060041 thrombophilia thrombophilia Thrombophilia HABP2 DOID:2452 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome MYO9A DOID:3635 pancreatic cancer pancreatic_cancer Pancreatic Cancer BRCA2 DOID:4905 pulmonary disease, chronic obstructive pulmonary_disease_chronic_obstructive Pulmonary Disease, Chronic Obstructive MMP1 DOID:3083 diabetes mellitus, insulin-dependent diabetes_mellitus_insulin_dependent Diabetes Mellitus, Insulin-Dependent INS DOID:9744 spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 DAZ3 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 IGF2 DOID:5176 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome SNORD116-1 DOID:11983 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome PWAR1 DOID:11983 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TMEM231 DOID:0110980 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome SNORD115-1 DOID:11983 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in TMEM165 DOID:5212 migraine with or without aura 1 migraine_with_or_without_aura_1 Migraine with or Without Aura 1 EDNRA DOID:6364 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TCTN3 DOID:0110980 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease DRP2 DOID:10595 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in PGM1 DOID:5212 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e MARS DOID:0110171 velocardiofacial syndrome velocardiofacial_syndrome Velocardiofacial Syndrome DGCR8 DOID:12583 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in SSR4 DOID:5212 diabetes mellitus, insulin-dependent diabetes_mellitus_insulin_dependent Diabetes Mellitus, Insulin-Dependent FOXP3 DOID:9744 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in ALG13 DOID:5212 non-syndromic x-linked intellectual disability non_syndromic_x_linked_intellectual_disability Non-Syndromic X-Linked Intellectual Disability NEXMIF DOID:0050776 esophageal cancer esophageal_cancer Esophageal Cancer Dec-01 DOID:5041 hypertension, essential hypertension_essential Hypertension, Essential SELE DOID:10825 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease CNTNAP1 DOID:10595 thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 TRIM24 DOID:3969 williams-beuren syndrome williams_beuren_syndrome Williams-Beuren Syndrome GTF2I DOID:1928 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TTC21B DOID:0110980 thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 PCM1 DOID:3969 thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 GOLGA5 DOID:3969 pancreatic cancer pancreatic_cancer Pancreatic Cancer CDKN2A DOID:4905 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in TUSC3 DOID:5212 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MCM3AP DOID:10595 nephronophthisis nephronophthisis Nephronophthisis IFT172 DOID:12712 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in DPM2 DOID:5212 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e MME DOID:0110171 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease SGPL1 DOID:10595 neuroblastoma neuroblastoma Neuroblastoma MYCN DOID:769 spinocerebellar ataxia 4 spinocerebellar_ataxia_4 Spinocerebellar Ataxia 4 PLEKHG4 DOID:0050957 1q21.1 recurrent microdeletion 1q211_recurrent_microdeletion 1q21.1 Recurrent Microdeletion GJA8 1q21.1 recurrent microdeletion 1q211_recurrent_microdeletion 1q21.1 Recurrent Microdeletion GJA5 abdominal obesity-metabolic syndrome 1 abdominal_obesity_metabolic_syndrome_1 Abdominal Obesity-Metabolic Syndrome 1 MTTP DOID:14221 alcohol dependence alcohol_dependence Alcohol Dependence RCBTB1 DOID:0050741 alzheimer disease alzheimer_disease Alzheimer Disease PAXIP1 DOID:10652 alzheimer disease 4 alzheimer_disease_4_2 Alzheimer Disease 4 APOE DOID:0110040 antley-bixler syndrome without genital anomalies or disordered steroidogenesis antley_bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis POR autism x-linked 4 autism_x_linked_4 Autism X-Linked 4 FRMPD4 basal cell carcinoma, multiple basal_cell_carcinoma_multiple Basal Cell Carcinoma, Multiple RASA1 basal cell carcinoma, multiple basal_cell_carcinoma_multiple Basal Cell Carcinoma, Multiple PTCH2 basal cell carcinoma, multiple basal_cell_carcinoma_multiple Basal Cell Carcinoma, Multiple SMO bleeding disorder, platelet-type, 8 bleeding_disorder_platelet_type_8 Bleeding Disorder, Platelet-Type, 8 P2RX1 DOID:0060692 catsper-related male infertility catsper_related_male_infertility Catsper-Related Male Infertility STRC catsper-related male infertility catsper_related_male_infertility Catsper-Related Male Infertility CATSPER2 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease WARS DOID:10595 charcot-marie-tooth disease type 2k charcot_marie_tooth_disease_type_2k Charcot-Marie-Tooth Disease Type 2k JPH1 chromosome 4p deletion chromosome_4p_deletion Chromosome 4p Deletion LETM1 chromosome 4p deletion chromosome_4p_deletion Chromosome 4p Deletion NSD2 chromosome 4p deletion chromosome_4p_deletion Chromosome 4p Deletion FGFRL1 chromosome 4p deletion chromosome_4p_deletion Chromosome 4p Deletion CTBP1 chromosome 4p deletion chromosome_4p_deletion Chromosome 4p Deletion CPLX1 chromosome xq28 duplication syndrome chromosome_xq28_duplication_syndrome Chromosome Xq28 Duplication Syndrome RAB39B chromosome xq28 duplication syndrome chromosome_xq28_duplication_syndrome Chromosome Xq28 Duplication Syndrome CLIC2 complement component c1r/c1s deficiency complement_component_c1r_c1s_deficiency Complement Component C1r/c1s Deficiency C1R congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in DDOST DOID:5212 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in MAGT1 DOID:5212 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome SLC25A1 DOID:3635 congenital myasthenic syndrome associated with acetylcholine receptor deficiency congenital_myasthenic_syndrome_associated_with_acetylcholine_receptor_deficiency conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations CFC1 cornelia de lange syndrome 1 cornelia_de_lange_syndrome_1 Cornelia De Lange Syndrome 1 RAD21 cornelia de lange syndrome 1 cornelia_de_lange_syndrome_1 Cornelia De Lange Syndrome 1 HDAC8 coronary heart disease 1 coronary_heart_disease_1 Coronary Heart Disease 1 CX3CR1 cutis laxa, neonatal, with marfanoid phenotype cutis_laxa_neonatal_with_marfanoid_phenotype Cutis Laxa, Neonatal, with Marfanoid Phenotype LAMB1 deafness, x-linked 2 deafness_x_linked_2 Deafness, X-Linked 2 GJB6 dense deposit disease dense_deposit_disease Dense Deposit Disease DGKE diabetes mellitus, insulin-dependent diabetes_mellitus_insulin_dependent Diabetes Mellitus, Insulin-Dependent ITPR3 DOID:9744 disorders of intracellular cobalamin metabolism disorders_of_intracellular_cobalamin_metabolism Disorders of Intracellular Cobalamin Metabolism ABCD4 dystonia 11, myoclonic dystonia_11_myoclonic_2 Dystonia 11, Myoclonic DRD2 DOID:0090034 epilepsy, familial temporal lobe, 1 epilepsy_familial_temporal_lobe_1 Epilepsy, Familial Temporal Lobe, 1 RELN DOID:0060748 epithelial-myoepithelial carcinoma epithelial_myoepithelial_carcinoma Epithelial-Myoepithelial Carcinoma NR4A3 DOID:5309 epithelial-myoepithelial carcinoma epithelial_myoepithelial_carcinoma Epithelial-Myoepithelial Carcinoma TAF15 DOID:5309 erythrokeratodermia variabilis et progressiva 2 erythrokeratodermia_variabilis_et_progressiva_2 Erythrokeratodermia Variabilis Et Progressiva 2 LAT DOID:0080248 familial porphyria cutanea tarda familial_porphyria_cutanea_tarda Familial Porphyria Cutanea Tarda HFE giant congenital nevus giant_congenital_nevus Giant Congenital Nevus HRAS glaucoma 3, primary infantile, b glaucoma_3_primary_infantile_b_2 Glaucoma 3, Primary Infantile, B TEK glaucoma 3, primary infantile, b glaucoma_3_primary_infantile_b_2 Glaucoma 3, Primary Infantile, B LTBP2 glaucoma 3, primary infantile, b glaucoma_3_primary_infantile_b_2 Glaucoma 3, Primary Infantile, B CYP1B1 heart conduction disease heart_conduction_disease Heart Conduction Disease AKAP10 DOID:10273 hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness PRPS1 hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness SMPX hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness POU3F4 hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness MT-RNR1 hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness MT-TS1 hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness MT-CO1 hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic_hypoglycemia_familial_2_2 Hyperinsulinemic Hypoglycemia, Familial, 2 HNF4A hyperlipoproteinemia, type iv hyperlipoproteinemia_type_iv_2 Hyperlipoproteinemia, Type Iv LIPI DOID:1172 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia POLR3B DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia SEMA3E DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia SPRY4 DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia WDR11 DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia SRA1 DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia IL17RD DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia FLRT3 DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia CCDC141 DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia AXL DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia DUSP6 DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia FEZF1 DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia FGF17 DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia GNRH1 DOID:0090078 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic SELP immunodeficiency, common variable, 2 immunodeficiency_common_variable_2 Immunodeficiency, Common Variable, 2 TNFRSF13C immunodeficiency, common variable, 2 immunodeficiency_common_variable_2 Immunodeficiency, Common Variable, 2 ICOS immunodeficiency, common variable, 2 immunodeficiency_common_variable_2 Immunodeficiency, Common Variable, 2 CR2 immunodeficiency, common variable, 2 immunodeficiency_common_variable_2 Immunodeficiency, Common Variable, 2 CD19 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia MLLT11 DOID:0050458 leiomyomatosis, diffuse, with alport syndrome leiomyomatosis_diffuse_with_alport_syndrome Leiomyomatosis, Diffuse, with Alport Syndrome COL4A6 leukemia, chronic lymphocytic 1 leukemia_chronic_lymphocytic_1 Leukemia, Chronic Lymphocytic 1 FGF16 lipodystrophy, familial partial, type 3 lipodystrophy_familial_partial_type_3 Lipodystrophy, Familial Partial, Type 3 PPP1R3A lynch syndrome i lynch_syndrome_i Lynch Syndrome I PMS1 macular degeneration, age-related, 10 macular_degeneration_age_related_10 Macular Degeneration, Age-Related, 10 TLR4 DOID:0110022 major affective disorder 1 major_affective_disorder_1 Major Affective Disorder 1 SLC6A3 DOID:0080220 martinez-frias syndrome martinez_frias_syndrome Martinez-Frias Syndrome RFX6 melanoma, cutaneous malignant 1 melanoma_cutaneous_malignant_1_2 Melanoma, Cutaneous Malignant 1 PTEN DOID:6846 mental retardation, x-linked 92 mental_retardation_x_linked_92_2 Mental Retardation, X-Linked 92 ZNF674 methylmalonic acidemia due to transcobalamin receptor defect methylmalonic_acidemia_due_to_transcobalamin_receptor_defect Methylmalonic Acidemia Due to Transcobalamin Receptor Defect CD320 DOID:0060741 methylmalonic acidemia with homocystinuria methylmalonic_acidemia_with_homocystinuria Methylmalonic Acidemia with Homocystinuria PRDX1 microphthalmia, syndromic 3 microphthalmia_syndromic_3_2 Microphthalmia, Syndromic 3 SIX6 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TR mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TQ mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TS1 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TM mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TV mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TK mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TW mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TS2 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-ND6 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TY mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-ND4 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-ND1 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TA mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TC mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TF mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TD mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TH mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TT mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-TK mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-TI mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-TL1 mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-TL2 mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-TW mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-TV mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-ND6 mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-ND5 mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-ND1 mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-CO3 mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-ND2 mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-ND3 mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-ND4 mitochondrial dna-associated leigh syndrome and narp mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial Dna-Associated Leigh Syndrome and Narp MT-ATP6 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects multiple_joint_dislocations_short_stature_and_craniofacial_dysmorphism_with_or_without_congenital_heart_defects Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects CHST3 muscular dystrophy-dystroglycanopathy , type a, 1 muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_1 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 LARGE1 netherton syndrome netherton_syndrome Netherton Syndrome POLA1 DOID:0050769 opioid dependence 1 opioid_dependence_1 Opioid Dependence 1 ME2 panic disorder 1 panic_disorder_1 Panic Disorder 1 COMT prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome HERC2 DOID:11983 pseudohyperkalemia, familial, 2, due to red cell leak pseudohyperkalemia_familial_2_due_to_red_cell_leak Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak SLC4A11 psoriasis 7 psoriasis_7 Psoriasis 7 IL23R ptosis, hereditary congenital 1 ptosis_hereditary_congenital_1_2 Ptosis, Hereditary Congenital 1 ZFHX4 schizophrenia 6 schizophrenia_6 Schizophrenia 6 NRG1 DOID:0070082 spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 XKRY spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 PRY2 spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 RBMY1A1 spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 RPS4Y2 spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 PRY spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 VCY spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 DDX3Y spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 BPY2 spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 CDY1 spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 CDY2A spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 KDM5D spermatogenic failure, y-linked, 2 spermatogenic_failure_y_linked_2 Spermatogenic Failure, Y-Linked, 2 HSFY1 spinal muscular atrophy, distal, autosomal recessive, 2 spinal_muscular_atrophy_distal_autosomal_recessive_2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 RAX2 DOID:0111065 spondylocostal dysostosis 1, autosomal recessive spondylocostal_dysostosis_1_autosomal_recessive Spondylocostal Dysostosis 1, Autosomal Recessive LFNG spondylocostal dysostosis 1, autosomal recessive spondylocostal_dysostosis_1_autosomal_recessive Spondylocostal Dysostosis 1, Autosomal Recessive HES7 stomatocytosis i stomatocytosis_i Stomatocytosis I STOM thrombocytopenia due to platelet alloimmunization thrombocytopenia_due_to_platelet_alloimmunization Thrombocytopenia Due to Platelet Alloimmunization FCGR2C DOID:1587 thrombophilia, familial, due to decreased release of tissue plasminogen activator thrombophilia_familial_due_to_decreased_release_of_tissue_plasminogen_activator Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator PLAT thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 PRKAR1A DOID:3969 thyroid cancer, nonmedullary, 1 thyroid_cancer_nonmedullary_1 Thyroid Cancer, Nonmedullary, 1 TRIM33 DOID:3969 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCB tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula ERCC4 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCE tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCL tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCI tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCG tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCF tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCD2 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula MID1 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula RAD51C tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula SLX4 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCM vacterl association with hydrocephaly, x-linked vacterl_association_with_hydrocephaly_x_linked Vacterl Association with Hydrocephaly, X-Linked FANCB ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy ventricular_tachycardia_catecholaminergic_polymorphic_1_with_or_without_atrial_dysfunction_and_or_dilated_cardiomyopathy Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy TRDN DOID:0060675 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 GPC4 DOID:5176