hutchinson-gilford progeria syndrome hutchinson_gilford_progeria_syndrome Hutchinson-Gilford Progeria Syndrome ZMPSTE24 MONDO:0008310 maple syrup urine disease maple_syrup_urine_disease Maple Syrup Urine Disease BCKDHB MONDO:0009563 mevalonic aciduria mevalonic_aciduria Mevalonic Aciduria MVK MONDO:0012481 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 PTPN11 MONDO:0018997 megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic_leukoencephalopathy_with_subcortical_cysts_1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 MLC1 anemia, nonspherocytic hemolytic, due to g6pd deficiency anemia_nonspherocytic_hemolytic_due_to_g6pd_deficiency Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency G6PD MONDO:0001761 autoimmune lymphoproliferative syndrome autoimmune_lymphoproliferative_syndrome Autoimmune Lymphoproliferative Syndrome FASLG MONDO:0017979 ataxia-telangiectasia ataxia_telangiectasia_2 Ataxia-Telangiectasia ATM MONDO:0008840 charcot-marie-tooth disease, axonal, type 2e charcot_marie_tooth_disease_axonal_type_2e Charcot-Marie-Tooth Disease, Axonal, Type 2e IGHMBP2 MONDO:0014511 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 INPP5E MONDO:0008944 multiple self-healing squamous epithelioma multiple_self_healing_squamous_epithelioma_2 Multiple Self-Healing Squamous Epithelioma TGFBR1 wiskott-aldrich syndrome wiskott_aldrich_syndrome Wiskott-Aldrich Syndrome WAS MONDO:0010518 smith-lemli-opitz syndrome smith_lemli_opitz_syndrome Smith-Lemli-Opitz Syndrome DHCR7 MONDO:0010035 pseudoxanthoma elasticum pseudoxanthoma_elasticum Pseudoxanthoma Elasticum ABCC6 MONDO:0009925 velocardiofacial syndrome velocardiofacial_syndrome Velocardiofacial Syndrome TBX1 MONDO:0008644 wilson disease wilson_disease Wilson Disease ATP7B MONDO:0010200 fabry disease fabry_disease Fabry Disease GLA MONDO:0010526 lesch-nyhan syndrome lesch_nyhan_syndrome Lesch-Nyhan Syndrome HPRT1 MONDO:0010298 hyperalphalipoproteinemia 1 hyperalphalipoproteinemia_1 Hyperalphalipoproteinemia 1 CETP maple syrup urine disease maple_syrup_urine_disease Maple Syrup Urine Disease BCKDHA MONDO:0009563 autoimmune lymphoproliferative syndrome autoimmune_lymphoproliferative_syndrome Autoimmune Lymphoproliferative Syndrome FAS MONDO:0017979 chediak-higashi syndrome chediak_higashi_syndrome Chediak-Higashi Syndrome LYST MONDO:0008963 argininosuccinic aciduria argininosuccinic_aciduria Argininosuccinic Aciduria ASL MONDO:0008815 phosphoserine aminotransferase deficiency phosphoserine_aminotransferase_deficiency Phosphoserine Aminotransferase Deficiency PSAT1 MONDO:0012596 maple syrup urine disease maple_syrup_urine_disease Maple Syrup Urine Disease DBT MONDO:0009563 malignant hyperthermia 1 malignant_hyperthermia_1 Malignant Hyperthermia 1 RYR1 orotic aciduria orotic_aciduria Orotic Aciduria UMPS MONDO:0009797 hemolytic uremic syndrome, atypical 2 hemolytic_uremic_syndrome_atypical_2 Hemolytic Uremic Syndrome, Atypical 2 CD46 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 WT1 MONDO:0019004 alpha-thalassemia/mental retardation syndrome, x-linked alpha_thalassemia_mental_retardation_syndrome_x_linked Alpha-Thalassemia/mental Retardation Syndrome, X-Linked ATRX gyrate atrophy of choroid and retina gyrate_atrophy_of_choroid_and_retina Gyrate Atrophy of Choroid and Retina OAT MONDO:0001892 ribose 5-phosphate isomerase deficiency ribose_5_phosphate_isomerase_deficiency Ribose 5-Phosphate Isomerase Deficiency RPIA MONDO:0012073 pendred syndrome pendred_syndrome Pendred Syndrome SLC26A4 MONDO:0010134 dubin-johnson syndrome dubin_johnson_syndrome Dubin-Johnson Syndrome ABCC2 MONDO:0009380 cystinuria cystinuria Cystinuria SLC7A9 MONDO:0009067 steel syndrome steel_syndrome Steel Syndrome COL27A1 gracile syndrome gracile_syndrome Gracile Syndrome BCS1L MONDO:0011308 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome SURF1 MONDO:0009723 lig4 syndrome lig4_syndrome Lig4 Syndrome LIG4 MONDO:0011686 rigid spine muscular dystrophy 1 rigid_spine_muscular_dystrophy_1 Rigid Spine Muscular Dystrophy 1 SELENON MONDO:0011271 nephrotic syndrome, type 7 nephrotic_syndrome_type_7 Nephrotic Syndrome, Type 7 DGKE spinocerebellar ataxia 21 spinocerebellar_ataxia_21 Spinocerebellar Ataxia 21 TMEM240 MONDO:0011833 choroideremia choroideremia Choroideremia CHM MONDO:0010557 peripheral neuropathy, myopathy, hoarseness, and hearing loss peripheral_neuropathy_myopathy_hoarseness_and_hearing_loss Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss MYH14 MONDO:0013711 multiple mitochondrial dysfunctions syndrome 3 multiple_mitochondrial_dysfunctions_syndrome_3 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 MONDO:0014132 infantile liver failure syndrome 1 infantile_liver_failure_syndrome_1 Infantile Liver Failure Syndrome 1 LARS MONDO:0024568 hydroxykynureninuria hydroxykynureninuria Hydroxykynureninuria KYNU niemann-pick disease, type b niemann_pick_disease_type_b Niemann-Pick Disease, Type B SMPD1 MONDO:0011871 fumarase deficiency fumarase_deficiency Fumarase Deficiency FH MONDO:0011730 lysosomal acid lipase deficiency lysosomal_acid_lipase_deficiency Lysosomal Acid Lipase Deficiency LIPA MONDO:0019148 ceroid lipofuscinosis, neuronal, 1 ceroid_lipofuscinosis_neuronal_1_2 Ceroid Lipofuscinosis, Neuronal, 1 PPT1 MONDO:0009744 marden-walker syndrome marden_walker_syndrome Marden-Walker Syndrome PIEZO2 nonaka myopathy nonaka_myopathy Nonaka Myopathy GNE waisman syndrome waisman_syndrome Waisman Syndrome RAB39B ceroid lipofuscinosis, neuronal, 3 ceroid_lipofuscinosis_neuronal_3 Ceroid Lipofuscinosis, Neuronal, 3 CLN3 MONDO:0008767 leukoencephalopathy with vanishing white matter leukoencephalopathy_with_vanishing_white_matter Leukoencephalopathy with Vanishing White Matter EIF2B5 MONDO:0800448 pyruvate dehydrogenase e1-alpha deficiency pyruvate_dehydrogenase_e1_alpha_deficiency Pyruvate Dehydrogenase E1-Alpha Deficiency PDHA1 MONDO:0019169 rhizomelic chondrodysplasia punctata, type 1 rhizomelic_chondrodysplasia_punctata_type_1_2 Rhizomelic Chondrodysplasia Punctata, Type 1 PEX7 MONDO:0008972 lissencephaly 1 lissencephaly_1 Lissencephaly 1 PAFAH1B1 mckusick-kaufman syndrome mckusick_kaufman_syndrome Mckusick-Kaufman Syndrome MKKS fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCA MONDO:0019391 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia PTPN11 MONDO:0011908 gnathodiaphyseal dysplasia gnathodiaphyseal_dysplasia Gnathodiaphyseal Dysplasia ANO5 laurence-moon syndrome laurence_moon_syndrome Laurence-Moon Syndrome PNPLA6 MONDO:0009514 chylomicron retention disease chylomicron_retention_disease Chylomicron Retention Disease SAR1B MONDO:0009528 spinocerebellar ataxia 28 spinocerebellar_ataxia_28 Spinocerebellar Ataxia 28 AFG3L2 MONDO:0012450 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome CDKN1C MONDO:0007534 ras-associated autoimmune leukoproliferative disorder ras_associated_autoimmune_leukoproliferative_disorder Ras-Associated Autoimmune Leukoproliferative Disorder NRAS MONDO:0013767 pancreatitis, hereditary pancreatitis_hereditary Pancreatitis, Hereditary SPINK1 costello syndrome costello_syndrome Costello Syndrome HRAS MONDO:0009026 sialuria sialuria Sialuria GNE MONDO:0010028 spinocerebellar ataxia 26 spinocerebellar_ataxia_26 Spinocerebellar Ataxia 26 EEF2 MONDO:0012246 menkes disease menkes_disease Menkes Disease ATP7A MONDO:0010651 autoimmune interstitial lung, joint, and kidney disease autoimmune_interstitial_lung_joint_and_kidney_disease Autoimmune Interstitial Lung, Joint, and Kidney Disease COPA MONDO:0014629 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 MONDO:0010479 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 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 MONDO:0014532 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 MONDO:0014690 hereditary leiomyomatosis and renal cell cancer hereditary_leiomyomatosis_and_renal_cell_cancer Hereditary Leiomyomatosis and Renal Cell Cancer FH MONDO:0007888 alopecia, neurologic defects, and endocrinopathy syndrome alopecia_neurologic_defects_and_endocrinopathy_syndrome Alopecia, Neurologic Defects, and Endocrinopathy Syndrome RBM28 MONDO:0012794 hemochromatosis, type 1 hemochromatosis_type_1_2 Hemochromatosis, Type 1 HFE MONDO:0006507 combined oxidative phosphorylation deficiency 21 combined_oxidative_phosphorylation_deficiency_21 Combined Oxidative Phosphorylation Deficiency 21 TARS2 MONDO:0014398 combined oxidative phosphorylation deficiency 25 combined_oxidative_phosphorylation_deficiency_25 Combined Oxidative Phosphorylation Deficiency 25 MARS2 MONDO:0014636 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 MONDO:0014269 xeroderma pigmentosum, variant type xeroderma_pigmentosum_variant_type Xeroderma Pigmentosum, Variant Type POLH MONDO:0010214 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 MONDO:0013291 thyroid carcinoma, familial medullary thyroid_carcinoma_familial_medullary Thyroid Carcinoma, Familial Medullary RET MONDO:0015277 spondyloepimetaphyseal dysplasia, aggrecan type spondyloepimetaphyseal_dysplasia_aggrecan_type Spondyloepimetaphyseal Dysplasia, Aggrecan Type ACAN cutaneous telangiectasia and cancer syndrome, familial cutaneous_telangiectasia_and_cancer_syndrome_familial Cutaneous Telangiectasia and Cancer Syndrome, Familial ATR MONDO:0013806 orofaciodigital syndrome xiv orofaciodigital_syndrome_xiv Orofaciodigital Syndrome Xiv C2CD3 ataxia-telangiectasia-like disorder 2 ataxia_telangiectasia_like_disorder_2 Ataxia-Telangiectasia-Like Disorder 2 PCNA MONDO:0014399 bleeding disorder, platelet-type, 19 bleeding_disorder_platelet_type_19 Bleeding Disorder, Platelet-Type, 19 PRKACG MONDO:0014518 polymicrogyria, bilateral temporooccipital polymicrogyria_bilateral_temporooccipital Polymicrogyria, Bilateral Temporooccipital FIG4 MONDO:0012986 sotos syndrome 1 sotos_syndrome_1 Sotos Syndrome 1 NSD1 MONDO:0019349 beukes hip dysplasia beukes_hip_dysplasia Beukes Hip Dysplasia UFSP2 liddle syndrome liddle_syndrome Liddle Syndrome SCNN1B MONDO:0008323 peeling skin syndrome 3 peeling_skin_syndrome_3 Peeling Skin Syndrome 3 CHST8 episodic pain syndrome, familial, 1 episodic_pain_syndrome_familial_1 Episodic Pain Syndrome, Familial, 1 TRPA1 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 MONDO:0010083 niemann-pick disease, type a niemann_pick_disease_type_a Niemann-Pick Disease, Type a SMPD1 MONDO:0009756 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 MONDO:0007354 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 MONDO:0013354 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG MONDO:0011835 central core disease of muscle central_core_disease_of_muscle Central Core Disease of Muscle RYR1 immunodeficiency 22 immunodeficiency_22 Immunodeficiency 22 LCK immunodeficiency 16 immunodeficiency_16 Immunodeficiency 16 TNFRSF4 myopathy, scapulohumeroperoneal myopathy_scapulohumeroperoneal Myopathy, Scapulohumeroperoneal ACTA1 MONDO:0014800 spastic paraplegia 4, autosomal dominant spastic_paraplegia_4_autosomal_dominant Spastic Paraplegia 4, Autosomal Dominant SPAST MONDO:0008438 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 MONDO:0014072 thrombocytopenia 6 thrombocytopenia_6 Thrombocytopenia 6 SRC treacher collins syndrome 1 treacher_collins_syndrome_1 Treacher Collins Syndrome 1 TCOF1 MONDO:0002457 mitochondrial dna depletion syndrome 4a mitochondrial_dna_depletion_syndrome_4a_alpers_type Mitochondrial Dna Depletion Syndrome 4a POLG MONDO:0008758 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 neurofibromatosis-noonan syndrome neurofibromatosis_noonan_syndrome Neurofibromatosis-Noonan Syndrome NF1 MONDO:0011035 lysinuric protein intolerance lysinuric_protein_intolerance Lysinuric Protein Intolerance SLC7A7 MONDO:0009109 multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple_congenital_anomalies_hypotonia_seizures_syndrome_1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 PIGN MONDO:0013563 salla disease salla_disease Salla Disease SLC17A5 MONDO:0011449 achondrogenesis, type ib achondrogenesis_type_ib_2 Achondrogenesis, Type Ib SLC26A2 MONDO:0010966 postaxial acrofacial dysostosis postaxial_acrofacial_dysostosis Postaxial Acrofacial Dysostosis DHODH MONDO:0009903 spondyloepimetaphyseal dysplasia, matrilin-3 related spondyloepimetaphyseal_dysplasia_matrilin_3_related_2 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related MATN3 MONDO:0016761 perry syndrome perry_syndrome Perry Syndrome DCTN1 MONDO:0008201 holocarboxylase synthetase deficiency holocarboxylase_synthetase_deficiency Holocarboxylase Synthetase Deficiency HLCS MONDO:0009666 mitochondrial complex ii deficiency mitochondrial_complex_ii_deficiency Mitochondrial Complex Ii Deficiency SDHA MONDO:0100294 coffin-lowry syndrome coffin_lowry_syndrome Coffin-Lowry Syndrome RPS6KA3 MONDO:0010561 jackson-weiss syndrome jackson_weiss_syndrome Jackson-Weiss Syndrome FGFR2 cystinuria cystinuria Cystinuria SLC3A1 MONDO:0009067 lowe oculocerebrorenal syndrome lowe_oculocerebrorenal_syndrome Lowe Oculocerebrorenal Syndrome OCRL MONDO:0010645 visceral myopathy visceral_myopathy Visceral Myopathy ACTG2 MONDO:0100354 vohwinkel syndrome vohwinkel_syndrome Vohwinkel Syndrome GJB2 choreoacanthocytosis choreoacanthocytosis Choreoacanthocytosis VPS13A MONDO:0008695 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii COL1A2 MONDO:0009804 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 MONDO:0013127 chanarin-dorfman syndrome chanarin_dorfman_syndrome Chanarin-Dorfman Syndrome ABHD5 MONDO:0010155 cowchock syndrome cowchock_syndrome Cowchock Syndrome AIFM1 MONDO:0010689 kufor-rakeb syndrome kufor_rakeb_syndrome Kufor-Rakeb Syndrome ATP13A2 MONDO:0011706 hereditary myopathy with early respiratory failure hereditary_myopathy_with_early_respiratory_failure Hereditary Myopathy with Early Respiratory Failure TTN reticular dysgenesis reticular_dysgenesis Reticular Dysgenesis AK2 MONDO:0009973 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 MONDO:0054559 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid CEBPA MONDO:0018874 mcleod syndrome mcleod_syndrome Mcleod Syndrome XK spastic paraplegia 72, autosomal recessive spastic_paraplegia_72_autosomal_recessive Spastic Paraplegia 72, Autosomal Recessive REEP2 MONDO:0014282 miyoshi muscular dystrophy 1 miyoshi_muscular_dystrophy_1 Miyoshi Muscular Dystrophy 1 DYSF MONDO:0024545 retinal arteries, tortuosity of retinal_arteries_tortuosity_of Retinal Arteries, Tortuosity of COL4A1 porphyria, acute hepatic porphyria_acute_hepatic Porphyria, Acute Hepatic ALAD MONDO:0002520 ataxia-telangiectasia-like disorder 1 ataxia_telangiectasia_like_disorder_1 Ataxia-Telangiectasia-Like Disorder 1 MRE11 MONDO:0024557 lecithin:cholesterol acyltransferase deficiency lecithincholesterol_acyltransferase_deficiency Lecithin:cholesterol Acyltransferase Deficiency LCAT MONDO:0009515 argininemia argininemia Argininemia ARG1 MONDO:0008814 lymphangioleiomyomatosis lymphangioleiomyomatosis Lymphangioleiomyomatosis TSC2 MONDO:0011705 ornithine transcarbamylase deficiency, hyperammonemia due to ornithine_transcarbamylase_deficiency_hyperammonemia_due_to Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to OTC MONDO:0010703 mitochondrial trifunctional protein deficiency mitochondrial_trifunctional_protein_deficiency Mitochondrial Trifunctional Protein Deficiency HADHA 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 MONDO:0014417 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 combined oxidative phosphorylation deficiency 12 combined_oxidative_phosphorylation_deficiency_12 Combined Oxidative Phosphorylation Deficiency 12 EARS2 MONDO:0013971 myopathy, distal, 1 myopathy_distal_1 Myopathy, Distal, 1 MYH7 MONDO:0008050 myhre syndrome myhre_syndrome Myhre Syndrome SMAD4 kabuki syndrome 1 kabuki_syndrome_1 Kabuki Syndrome 1 KMT2D MONDO:0016512 combined oxidative phosphorylation deficiency 8 combined_oxidative_phosphorylation_deficiency_8 Combined Oxidative Phosphorylation Deficiency 8 AARS2 MONDO:0013570 tuberous sclerosis 1 tuberous_sclerosis_1_2 Tuberous Sclerosis 1 TSC1 MONDO:0008612 combined oxidative phosphorylation deficiency 3 combined_oxidative_phosphorylation_deficiency_3 Combined Oxidative Phosphorylation Deficiency 3 TSFM MONDO:0012512 spastic paraplegia 31, autosomal dominant spastic_paraplegia_31_autosomal_dominant Spastic Paraplegia 31, Autosomal Dominant REEP1 MONDO:0012453 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 MONDO:0009393 dihydrolipoamide dehydrogenase deficiency dihydrolipoamide_dehydrogenase_e3_deficiency Dihydrolipoamide Dehydrogenase Deficiency DLD MONDO:0009529 gracile bone dysplasia gracile_bone_dysplasia Gracile Bone Dysplasia FAM111A melnick-needles syndrome melnick_needles_syndrome Melnick-Needles Syndrome FLNA 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 MONDO:0800448 fanconi-bickel syndrome fanconi_bickel_syndrome Fanconi-Bickel Syndrome SLC2A2 coach syndrome coach_syndrome Coach Syndrome TMEM67 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 MONDO:0012905 hartsfield syndrome hartsfield_syndrome Hartsfield Syndrome FGFR1 brody myopathy brody_myopathy Brody Myopathy ATP2A1 MONDO:0010977 mitochondrial dna depletion syndrome 6 mitochondrial_dna_depletion_syndrome_6_hepatocerebral_type Mitochondrial Dna Depletion Syndrome 6 MPV17 MONDO:0009747 craniofacial-deafness-hand syndrome craniofacial_deafness_hand_syndrome Craniofacial-Deafness-Hand Syndrome PAX3 fish-eye disease fish_eye_disease Fish-Eye Disease LCAT MONDO:0007620 meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 ORC1 MONDO:0016817 pontocerebellar hypoplasia, type 4 pontocerebellar_hypoplasia_type_4_2 Pontocerebellar Hypoplasia, Type 4 TSEN54 MONDO:0009166 johanson-blizzard syndrome johanson_blizzard_syndrome Johanson-Blizzard Syndrome UBR1 MONDO:0009479 trimethylaminuria trimethylaminuria Trimethylaminuria FMO3 MONDO:0011182 bannayan-riley-ruvalcaba syndrome bannayan_riley_ruvalcaba_syndrome Bannayan-Riley-Ruvalcaba Syndrome PTEN MONDO:0007924 occipital horn syndrome occipital_horn_syndrome Occipital Horn Syndrome ATP7A MONDO:0010572 corneal dystrophy and perceptive deafness corneal_dystrophy_and_perceptive_deafness Corneal Dystrophy and Perceptive Deafness SLC4A11 lathosterolosis lathosterolosis Lathosterolosis SC5D MONDO:0011816 desmosterolosis desmosterolosis Desmosterolosis DHCR24 steatocystoma multiplex steatocystoma_multiplex Steatocystoma Multiplex KRT17 pancreatitis, hereditary pancreatitis_hereditary Pancreatitis, Hereditary PRSS1 cystathioninuria cystathioninuria Cystathioninuria CTH MONDO:0009058 triosephosphate isomerase deficiency triosephosphate_isomerase_deficiency Triosephosphate Isomerase Deficiency TPI1 MONDO:0014221 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 MONDO:0007064 multiple mitochondrial dysfunctions syndrome 1 multiple_mitochondrial_dysfunctions_syndrome_1 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 MONDO:0011582 spinal muscular atrophy, distal, autosomal recessive, 1 spinal_muscular_atrophy_distal_autosomal_recessive_1 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 IGHMBP2 MONDO:0011436 opitz-kaveggia syndrome opitz_kaveggia_syndrome Opitz-Kaveggia Syndrome MED12 MONDO:0002010 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 coproporphyria, hereditary coproporphyria_hereditary Coproporphyria, Hereditary CPOX MONDO:0007369 lethal congenital contracture syndrome 1 lethal_congenital_contracture_syndrome_1 Lethal Congenital Contracture Syndrome 1 GLE1 MONDO:0009670 acrokeratosis verruciformis acrokeratosis_verruciformis Acrokeratosis Verruciformis ATP2A2 MONDO:0007048 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 MONDO:0009783 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 MONDO:0014561 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 MONDO:0008842 myopathy, distal, 4 myopathy_distal_4 Myopathy, Distal, 4 FLNC arts syndrome arts_syndrome Arts Syndrome PRPS1 MONDO:0010533 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 MONDO:0008026 macular dystrophy, vitelliform, 2 macular_dystrophy_vitelliform_2 Macular Dystrophy, Vitelliform, 2 BEST1 anemia, sideroblastic, 1 anemia_sideroblastic_1 Anemia, Sideroblastic, 1 ALAS2 MONDO:0001357 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 MONDO:0014698 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 coenzyme q10 deficiency, primary, 7 coenzyme_q10_deficiency_primary_7 Coenzyme Q10 Deficiency, Primary, 7 COQ4 MONDO:0014562 nemaline myopathy 3 nemaline_myopathy_3 Nemaline Myopathy 3 ACTA1 MONDO:0008070 mental retardation, x-linked 102 mental_retardation_x_linked_102 Mental Retardation, X-Linked 102 DDX3X MONDO:0010497 combined oxidative phosphorylation deficiency 10 combined_oxidative_phosphorylation_deficiency_10 Combined Oxidative Phosphorylation Deficiency 10 MTO1 MONDO:0013865 pneumothorax, primary spontaneous pneumothorax_primary_spontaneous Pneumothorax, Primary Spontaneous FLCN MONDO:0008259 kelley-seegmiller syndrome kelley_seegmiller_syndrome Kelley-Seegmiller Syndrome HPRT1 MONDO:0010299 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 MONDO:0010407 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 MONDO:0014848 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 MONDO:0009039 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 MONDO:0008021 congenital disorder of glycosylation, type iia congenital_disorder_of_glycosylation_type_iia Congenital Disorder of Glycosylation, Type Iia MGAT2 combined oxidative phosphorylation deficiency 15 combined_oxidative_phosphorylation_deficiency_15 Combined Oxidative Phosphorylation Deficiency 15 MTFMT MONDO:0013987 deafness, x-linked 5 deafness_x_linked_5 Deafness, X-Linked 5 AIFM1 MONDO:0010378 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 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 MC4R MONDO:0011122 homocystinuria-megaloblastic anemia, cblg complementation type homocystinuria_megaloblastic_anemia_cblg_complementation_type Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type MTR MONDO:0009609 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 MONDO:0014659 scapuloperoneal myopathy, myh7-related scapuloperoneal_myopathy_myh7_related Scapuloperoneal Myopathy, Myh7-Related MYH7 MONDO:0008409 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 MONDO:0012622 epileptic encephalopathy, early infantile, 7 epileptic_encephalopathy_early_infantile_7 Epileptic Encephalopathy, Early Infantile, 7 KCNQ2 epileptic encephalopathy, early infantile, 50 epileptic_encephalopathy_early_infantile_50 Epileptic Encephalopathy, Early Infantile, 50 CAD MONDO:0014647 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 MONDO:0009736 growth retardation, developmental delay, and facial dysmorphism growth_retardation_developmental_delay_and_facial_dysmorphism Growth Retardation, Developmental Delay, and Facial Dysmorphism FTO lissencephaly 3 lissencephaly_3 Lissencephaly 3 TUBA1A MONDO:0015148 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 multiple mitochondrial dysfunctions syndrome 4 multiple_mitochondrial_dysfunctions_syndrome_4 Multiple Mitochondrial Dysfunctions Syndrome 4 ISCA2 MONDO:0014611 liver failure, infantile, transient liver_failure_infantile_transient Liver Failure, Infantile, Transient TRMU MONDO:0013111 focal cortical dysplasia, type ii focal_cortical_dysplasia_type_ii Focal Cortical Dysplasia, Type Ii MTOR MONDO:0011818 capillary malformation-arteriovenous malformation capillary_malformation_arteriovenous_malformation Capillary Malformation-Arteriovenous Malformation RASA1 glucose/galactose malabsorption glucose_galactose_malabsorption Glucose/galactose Malabsorption SLC5A1 cystinosis, nephropathic cystinosis_nephropathic Cystinosis, Nephropathic CTNS n-acetylglutamate synthase deficiency n_acetylglutamate_synthase_deficiency N-Acetylglutamate Synthase Deficiency NAGS MONDO:0009377 acid-labile subunit deficiency acid_labile_subunit_deficiency Acid-Labile Subunit Deficiency IGFALS immunodeficiency 21 immunodeficiency_21 Immunodeficiency 21 GATA2 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 MET MONDO:0017884 hyaline fibromatosis syndrome hyaline_fibromatosis_syndrome Hyaline Fibromatosis Syndrome ANTXR2 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 MONDO:0009949 multisystemic smooth muscle dysfunction syndrome multisystemic_smooth_muscle_dysfunction_syndrome Multisystemic Smooth Muscle Dysfunction Syndrome ACTA2 MONDO:0013452 erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia_variabilis_et_progressiva_1 Erythrokeratodermia Variabilis Et Progressiva 1 GJB3 MONDO:0017851 phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate_synthetase_superactivity Phosphoribosylpyrophosphate Synthetase Superactivity PRPS1 MONDO:0010395 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 MONDO:0012160 haim-munk syndrome haim_munk_syndrome Haim-Munk Syndrome CTSC dent disease 1 dent_disease_1 Dent Disease 1 CLCN5 MONDO:0015612 langer mesomelic dysplasia langer_mesomelic_dysplasia Langer Mesomelic Dysplasia SHOX charcot-marie-tooth disease, type 4b1 charcot_marie_tooth_disease_type_4b1_2 Charcot-Marie-Tooth Disease, Type 4b1 MTMR2 MONDO:0011066 prolidase deficiency prolidase_deficiency Prolidase Deficiency PEPD glycogen storage disease xiii glycogen_storage_disease_xiii Glycogen Storage Disease Xiii ENO3 MONDO:0013046 weyers acrofacial dysostosis weyers_acrofacial_dysostosis Weyers Acrofacial Dysostosis EVC osteoglophonic dysplasia osteoglophonic_dysplasia Osteoglophonic Dysplasia FGFR1 purine nucleoside phosphorylase deficiency purine_nucleoside_phosphorylase_deficiency Purine Nucleoside Phosphorylase Deficiency PNP MONDO:0013171 catel-manzke syndrome catel_manzke_syndrome_2 Catel-Manzke Syndrome TGDS MONDO:0014507 vitreoretinochoroidopathy vitreoretinochoroidopathy Vitreoretinochoroidopathy BEST1 adenine phosphoribosyltransferase deficiency adenine_phosphoribosyltransferase_deficiency Adenine Phosphoribosyltransferase Deficiency APRT MONDO:0013869 porphyria, acute intermittent porphyria_acute_intermittent Porphyria, Acute Intermittent HMBS MONDO:0008294 martsolf syndrome martsolf_syndrome Martsolf Syndrome RAB3GAP2 irak4 deficiency irak4_deficiency Irak4 Deficiency IRAK4 adenylosuccinase deficiency adenylosuccinase_deficiency Adenylosuccinase Deficiency ADSL MONDO:0007068 benign chronic pemphigus benign_chronic_pemphigus Benign Chronic Pemphigus ATP2C1 MONDO:0008218 myeloperoxidase deficiency myeloperoxidase_deficiency Myeloperoxidase Deficiency MPO leukoencephalopathy with vanishing white matter leukoencephalopathy_with_vanishing_white_matter Leukoencephalopathy with Vanishing White Matter EIF2B1 MONDO:0800448 kanzaki disease kanzaki_disease Kanzaki Disease NAGA MONDO:0012222 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 MONDO:0008879 keppen-lubinsky syndrome keppen_lubinsky_syndrome Keppen-Lubinsky Syndrome KCNJ6 diaphanospondylodysostosis diaphanospondylodysostosis Diaphanospondylodysostosis BMPER currarino syndrome currarino_syndrome Currarino Syndrome MNX1 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 MONDO:0012651 leukoencephalopathy with vanishing white matter leukoencephalopathy_with_vanishing_white_matter Leukoencephalopathy with Vanishing White Matter EIF2B4 MONDO:0800448 thrombocytopenia 1 thrombocytopenia_1 Thrombocytopenia 1 WAS MONDO:0010743 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 MONDO:0013252 multicentric osteolysis, nodulosis, and arthropathy multicentric_osteolysis_nodulosis_and_arthropathy Multicentric Osteolysis, Nodulosis, and Arthropathy MMP2 calcification of joints and arteries calcification_of_joints_and_arteries Calcification of Joints and Arteries NT5E MONDO:0008895 prekallikrein deficiency prekallikrein_deficiency Prekallikrein Deficiency KLKB1 primrose syndrome primrose_syndrome Primrose Syndrome ZBTB20 ataxia-pancytopenia syndrome ataxia_pancytopenia_syndrome Ataxia-Pancytopenia Syndrome SAMD9L jalili syndrome jalili_syndrome Jalili Syndrome CNNM4 MONDO:0009007 muscular dystrophy, limb-girdle, type 2h muscular_dystrophy_limb_girdle_type_2h Muscular Dystrophy, Limb-Girdle, Type 2h TRIM32 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 muscular dystrophy, limb-girdle, type 2b muscular_dystrophy_limb_girdle_type_2b Muscular Dystrophy, Limb-Girdle, Type 2b DYSF MONDO:0009676 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 MONDO:0010159 neutrophil immunodeficiency syndrome neutrophil_immunodeficiency_syndrome Neutrophil Immunodeficiency Syndrome RAC2 temtamy syndrome temtamy_syndrome Temtamy Syndrome C12orf57 chronic atrial and intestinal dysrhythmia chronic_atrial_and_intestinal_dysrhythmia Chronic Atrial and Intestinal Dysrhythmia SGO1 MONDO:0014528 spastic paraplegia 42, autosomal dominant spastic_paraplegia_42_autosomal_dominant Spastic Paraplegia 42, Autosomal Dominant SLC33A1 MONDO:0012928 perlman syndrome perlman_syndrome Perlman Syndrome DIS3L2 MONDO:0009965 yunis-varon syndrome yunis_varon_syndrome_2 Yunis-Varon Syndrome FIG4 MONDO:0008995 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 MONDO:0012866 infantile cerebellar-retinal degeneration infantile_cerebellar_retinal_degeneration Infantile Cerebellar-Retinal Degeneration ACO2 MONDO:0013802 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 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii COL1A1 MONDO:0009804 neuraminidase deficiency neuraminidase_deficiency Neuraminidase Deficiency NEU1 iminoglycinuria iminoglycinuria Iminoglycinuria SLC36A2 MONDO:0009448 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 MONDO:0008542 phosphoserine phosphatase deficiency phosphoserine_phosphatase_deficiency Phosphoserine Phosphatase Deficiency PSPH MONDO:0013531 mitochondrial complex ii deficiency mitochondrial_complex_ii_deficiency Mitochondrial Complex Ii Deficiency SDHAF1 MONDO:0100294 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 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 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 MONDO:0007574 mitochondrial complex ii deficiency mitochondrial_complex_ii_deficiency Mitochondrial Complex Ii Deficiency SDHD MONDO:0100294 neuropathy, hereditary sensory, type ie neuropathy_hereditary_sensory_type_ie Neuropathy, Hereditary Sensory, Type Ie DNMT1 MONDO:0013584 bjornstad syndrome bjornstad_syndrome Bjornstad Syndrome BCS1L MONDO:0009872 carney complex variant carney_complex_variant Carney Complex Variant MYH8 MONDO:0015285 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 MONDO:0009950 congenital disorder of glycosylation, type ib congenital_disorder_of_glycosylation_type_ib Congenital Disorder of Glycosylation, Type Ib MPI MONDO:0011257 muscular dystrophy-dystroglycanopathy , type c, 14 muscular_dystrophy_dystroglycanopathy_type_c_14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 GMPPB MONDO:0014142 muscular dystrophy-dystroglycanopathy , type c, 2 muscular_dystrophy_dystroglycanopathy_type_c_2 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 POMT2 MONDO:0013162 muscular dystrophy-dystroglycanopathy , type c, 1 muscular_dystrophy_dystroglycanopathy_type_c_1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 POMT1 MONDO:0012248 epilepsy, pyridoxine-dependent epilepsy_pyridoxine_dependent Epilepsy, Pyridoxine-Dependent ALDH7A1 MONDO:0009945 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 MONDO:0014487 cholestasis, progressive familial intrahepatic, 3 cholestasis_progressive_familial_intrahepatic_3_2 Cholestasis, Progressive Familial Intrahepatic, 3 ABCB4 MONDO:0011214 gastric cancer, hereditary diffuse gastric_cancer_hereditary_diffuse Gastric Cancer, Hereditary Diffuse CDH1 MONDO:0007648 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 MONDO:0014115 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 nicolaides-baraitser syndrome nicolaides_baraitser_syndrome_2 Nicolaides-Baraitser Syndrome SMARCA2 MONDO:0011053 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 MONDO:0011156 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 MONDO:0010621 tatton-brown-rahman syndrome tatton_brown_rahman_syndrome Tatton-Brown-Rahman Syndrome DNMT3A 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 MONDO:0013889 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 MONDO:0014656 combined oxidative phosphorylation deficiency 14 combined_oxidative_phosphorylation_deficiency_14 Combined Oxidative Phosphorylation Deficiency 14 FARS2 MONDO:0013986 osteopetrosis, autosomal dominant 2 osteopetrosis_autosomal_dominant_2 Osteopetrosis, Autosomal Dominant 2 CLCN7 MONDO:0008156 hyperparathyroidism 2 with jaw tumors hyperparathyroidism_2_with_jaw_tumors Hyperparathyroidism 2 with Jaw Tumors CDC73 MONDO:0007768 renal tubular acidosis, distal, autosomal dominant renal_tubular_acidosis_distal_autosomal_dominant Renal Tubular Acidosis, Distal, Autosomal Dominant SLC4A1 MONDO:0008368 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 hypouricemia, renal, 1 hypouricemia_renal_1 Hypouricemia, Renal, 1 SLC22A12 hemochromatosis, type 3 hemochromatosis_type_3 Hemochromatosis, Type 3 TFR2 MONDO:0011417 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 MONDO:0007417 interstitial lung and liver disease interstitial_lung_and_liver_disease Interstitial Lung and Liver Disease MARS MONDO:0014206 mismatch repair cancer syndrome mismatch_repair_cancer_syndrome Mismatch Repair Cancer Syndrome MLH1 MONDO:0010159 thiamine metabolism dysfunction syndrome 5 thiamine_metabolism_dysfunction_syndrome_5 Thiamine Metabolism Dysfunction Syndrome 5 TPK1 protoporphyria, erythropoietic protoporphyria_erythropoietic Protoporphyria, Erythropoietic FECH MONDO:0001676 pyruvate dehydrogenase e1-beta deficiency pyruvate_dehydrogenase_e1_beta_deficiency Pyruvate Dehydrogenase E1-Beta Deficiency PDHB MONDO:0013580 phosphoglycerate dehydrogenase deficiency phosphoglycerate_dehydrogenase_deficiency Phosphoglycerate Dehydrogenase Deficiency PHGDH MONDO:0011152 segawa syndrome, autosomal recessive segawa_syndrome_autosomal_recessive Segawa Syndrome, Autosomal Recessive TH MONDO:0011551 majeed syndrome majeed_syndrome Majeed Syndrome LPIN2 MONDO:0012316 hyperparathyroidism, neonatal severe hyperparathyroidism_neonatal_severe Hyperparathyroidism, Neonatal Severe CASR focal segmental glomerulosclerosis 1 focal_segmental_glomerulosclerosis_1 Focal Segmental Glomerulosclerosis 1 ACTN4 MONDO:0011303 hepatic lipase deficiency hepatic_lipase_deficiency Hepatic Lipase Deficiency LIPC mitochondrial phosphate carrier deficiency mitochondrial_phosphate_carrier_deficiency Mitochondrial Phosphate Carrier Deficiency SLC25A3 MONDO:0012557 phosphoglycerate kinase 1 deficiency phosphoglycerate_kinase_1_deficiency Phosphoglycerate Kinase 1 Deficiency PGK1 MONDO:0010392 combined oxidative phosphorylation deficiency 20 combined_oxidative_phosphorylation_deficiency_20 Combined Oxidative Phosphorylation Deficiency 20 VARS2 MONDO:0014397 cerebral creatine deficiency syndrome 2 cerebral_creatine_deficiency_syndrome_2 Cerebral Creatine Deficiency Syndrome 2 GAMT MONDO:0012999 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 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 MONDO:0013969 autoinflammation with infantile enterocolitis autoinflammation_with_infantile_enterocolitis Autoinflammation with Infantile Enterocolitis NLRC4 porphyria, congenital erythropoietic porphyria_congenital_erythropoietic Porphyria, Congenital Erythropoietic UROS MONDO:0009902 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 mucolipidosis iii gamma mucolipidosis_iii_gamma Mucolipidosis Iii Gamma GNPTG 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 MONDO:0008297 combined oxidative phosphorylation deficiency 24 combined_oxidative_phosphorylation_deficiency_24 Combined Oxidative Phosphorylation Deficiency 24 NARS2 MONDO:0014547 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 MONDO:0012640 diarrhea 2, with microvillus atrophy diarrhea_2_with_microvillus_atrophy Diarrhea 2, with Microvillus Atrophy MYO5B MONDO:0009635 combined oxidative phosphorylation deficiency 6 combined_oxidative_phosphorylation_deficiency_6 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 MONDO:0010437 microcephaly-capillary malformation syndrome microcephaly_capillary_malformation_syndrome Microcephaly-Capillary Malformation Syndrome STAMBP MONDO:0013659 neutropenia, severe congenital, x-linked neutropenia_severe_congenital_x_linked Neutropenia, Severe Congenital, X-Linked WAS MONDO:0010294 prothrombin deficiency, congenital prothrombin_deficiency_congenital Prothrombin Deficiency, Congenital F2 mitochondrial pyruvate carrier deficiency mitochondrial_pyruvate_carrier_deficiency Mitochondrial Pyruvate Carrier Deficiency MPC1 MONDO:0013877 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 MONDO:0014881 ruijs-aalfs syndrome ruijs_aalfs_syndrome Ruijs-Aalfs Syndrome SPRTN MONDO:0014527 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 MONDO:0031481 smith-kingsmore syndrome smith_kingsmore_syndrome Smith-Kingsmore Syndrome MTOR MONDO:0014716 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 MONDO:0014018 gordon holmes syndrome gordon_holmes_syndrome Gordon Holmes Syndrome RNF216 MONDO:0008935 multiple pterygium syndrome, lethal type multiple_pterygium_syndrome_lethal_type_2 Multiple Pterygium Syndrome, Lethal Type CHRND MONDO:0009668 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 dystonia 4, torsion, autosomal dominant dystonia_4_torsion_autosomal_dominant Dystonia 4, Torsion, Autosomal Dominant TUBB4A MONDO:0007493 lipoprotein glomerulopathy lipoprotein_glomerulopathy Lipoprotein Glomerulopathy APOE gastrointestinal defects and immunodeficiency syndrome gastrointestinal_defects_and_immunodeficiency_syndrome Gastrointestinal Defects and Immunodeficiency Syndrome TTC7A MONDO:0009465 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 MONDO:0014165 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 MONDO:0010699 d-2-hydroxyglutaric aciduria 1 d_2_hydroxyglutaric_aciduria_1 D-2-Hydroxyglutaric Aciduria 1 D2HGDH MONDO:0010924 bisphosphoglycerate mutase deficiency bisphosphoglycerate_mutase_deficiency Bisphosphoglycerate Mutase Deficiency BPGM MONDO:0009113 dent disease 2 dent_disease_2 Dent Disease 2 OCRL MONDO:0010359 bent bone dysplasia syndrome bent_bone_dysplasia_syndrome Bent Bone Dysplasia Syndrome FGFR2 manitoba oculotrichoanal syndrome manitoba_oculotrichoanal_syndrome Manitoba Oculotrichoanal Syndrome FREM1 metaphyseal dysplasia, spahr type metaphyseal_dysplasia_spahr_type Metaphyseal Dysplasia, Spahr Type MMP13 codas syndrome codas_syndrome Codas Syndrome LONP1 MONDO:0010879 glycogen storage disease vi glycogen_storage_disease_vi Glycogen Storage Disease Vi PYGL MONDO:0009294 synpolydactyly 1 synpolydactyly_1 Synpolydactyly 1 HOXD13 leukoencephalopathy with vanishing white matter leukoencephalopathy_with_vanishing_white_matter Leukoencephalopathy with Vanishing White Matter EIF2B3 MONDO:0800448 microcephaly, amish type microcephaly_amish_type Microcephaly, Amish Type SLC25A19 MONDO:0011790 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 MONDO:0010355 curry-jones syndrome curry_jones_syndrome_2 Curry-Jones Syndrome SMO pontocerebellar hypoplasia, type 9 pontocerebellar_hypoplasia_type_9_2 Pontocerebellar Hypoplasia, Type 9 AMPD2 MONDO:0014351 neurodegeneration with brain iron accumulation 6 neurodegeneration_with_brain_iron_accumulation_6 Neurodegeneration with Brain Iron Accumulation 6 COASY MONDO:0014290 hermansky-pudlak syndrome 2 hermansky_pudlak_syndrome_2_2 Hermansky-Pudlak Syndrome 2 AP3B1 MONDO:0011997 tylosis with esophageal cancer tylosis_with_esophageal_cancer Tylosis with Esophageal Cancer RHBDF2 pierpont syndrome pierpont_syndrome Pierpont Syndrome TBL1XR1 MONDO:0011213 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 cole disease cole_disease Cole Disease ENPP1 mirage syndrome mirage_syndrome Mirage Syndrome SAMD9 deafness, autosomal dominant 1 deafness_autosomal_dominant_1 Deafness, Autosomal Dominant 1 DIAPH1 MONDO:0007424 multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple_congenital_anomalies_hypotonia_seizures_syndrome_2 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 PIGA MONDO:0010466 mitochondrial dna depletion syndrome 5 mitochondrial_dna_depletion_syndrome_5_encephalomyopathic_with_methylmalonic_aciduria Mitochondrial Dna Depletion Syndrome 5 SUCLA2 MONDO:0012791 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 MONDO:0019666 czech dysplasia czech_dysplasia Czech Dysplasia COL2A1 spinocerebellar ataxia, autosomal recessive 10 spinocerebellar_ataxia_autosomal_recessive_10_2 Spinocerebellar Ataxia, Autosomal Recessive 10 ANO10 MONDO:0013392 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 MONDO:0011397 coach syndrome coach_syndrome Coach Syndrome RPGRIP1L spinal muscular atrophy, type ii spinal_muscular_atrophy_type_ii Spinal Muscular Atrophy, Type Ii SMN1 MONDO:0009673 ogden syndrome ogden_syndrome Ogden Syndrome NAA10 MONDO:0010457 xanthinuria, type i xanthinuria_type_i Xanthinuria, Type I XDH griscelli syndrome, type 3 griscelli_syndrome_type_3_2 Griscelli Syndrome, Type 3 MLPH MONDO:0012220 leukodystrophy, hypomyelinating, 4 leukodystrophy_hypomyelinating_4 Leukodystrophy, Hypomyelinating, 4 HSPD1 MONDO:0012824 corneal dystrophy, fleck corneal_dystrophy_fleck Corneal Dystrophy, Fleck PIKFYVE MONDO:0007376 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 polydactyly, postaxial, type a1 polydactyly_postaxial_type_a1 Polydactyly, Postaxial, Type A1 GLI3 epilepsy, familial focal, with variable foci 1 epilepsy_familial_focal_with_variable_foci_1_2 Epilepsy, Familial Focal, with Variable Foci 1 DEPDC5 MONDO:0020310 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 MONDO:0011422 periventricular nodular heterotopia 1 periventricular_nodular_heterotopia_1 Periventricular Nodular Heterotopia 1 FLNA 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 MONDO:0009867 neuropathy, hereditary sensory and autonomic, type iii neuropathy_hereditary_sensory_and_autonomic_type_iii Neuropathy, Hereditary Sensory and Autonomic, Type Iii ELP1 MONDO:0009131 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 MONDO:0013331 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 MONDO:0044646 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 MONDO:0014335 schopf-schulz-passarge syndrome schopf_schulz_passarge_syndrome Schopf-Schulz-Passarge Syndrome WNT10A refsum disease, classic refsum_disease_classic Refsum Disease, Classic PHYH MONDO:0009958 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 MONDO:0009703 lethal arthrogryposis with anterior horn cell disease lethal_arthrogryposis_with_anterior_horn_cell_disease Lethal Arthrogryposis with Anterior Horn Cell Disease GLE1 MONDO:0012750 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 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 MONDO:0014190 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 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 MONDO:0010150 coenzyme q10 deficiency, primary, 4 coenzyme_q10_deficiency_primary_4 Coenzyme Q10 Deficiency, Primary, 4 COQ8A MONDO:0012784 bone marrow failure syndrome 1 bone_marrow_failure_syndrome_1 Bone Marrow Failure Syndrome 1 SRP72 MONDO:0013851 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 MONDO:0054865 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 MONDO:0013541 glycogen storage disease vii glycogen_storage_disease_vii Glycogen Storage Disease Vii PFKM MONDO:0009295 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 MONDO:0013740 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 MONDO:0014832 mitochondrial dna depletion syndrome 9 mitochondrial_dna_depletion_syndrome_9_encephalomyopathic_type_with_methylmalonic_aciduria Mitochondrial Dna Depletion Syndrome 9 SUCLG1 MONDO:0009504 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 MONDO:0013404 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 MONDO:0020667 leukoencephalopathy, cystic, without megalencephaly leukoencephalopathy_cystic_without_megalencephaly Leukoencephalopathy, Cystic, Without Megalencephaly RNASET2 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 MONDO:0014389 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 MONDO:0014821 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 MONDO:0011865 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 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 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 combined oxidative phosphorylation deficiency 23 combined_oxidative_phosphorylation_deficiency_23 Combined Oxidative Phosphorylation Deficiency 23 GTPBP3 MONDO:0014525 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 MONDO:0010478 epileptic encephalopathy, early infantile, 1 epileptic_encephalopathy_early_infantile_1 Epileptic Encephalopathy, Early Infantile, 1 ARX 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 MONDO:0014062 homocystinuria-megaloblastic anemia, cble complementation type homocystinuria_megaloblastic_anemia_cble_complementation_type Homocystinuria-Megaloblastic Anemia, Cble Complementation Type MTRR MONDO:0009354 neuromyotonia and axonal neuropathy, autosomal recessive neuromyotonia_and_axonal_neuropathy_autosomal_recessive Neuromyotonia and Axonal Neuropathy, Autosomal Recessive HINT1 MONDO:0007646 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 spinal muscular atrophy, jokela type spinal_muscular_atrophy_jokela_type Spinal Muscular Atrophy, Jokela Type CHCHD10 MONDO:0014025 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 MONDO:0013944 mental retardation, x-linked, syndromic 33 mental_retardation_x_linked_syndromic_33_2 Mental Retardation, X-Linked, Syndromic 33 TAF1 MONDO:0010500 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 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 MONDO:0010221 hyperphenylalaninemia, bh4-deficient, d hyperphenylalaninemia_bh4_deficient_d Hyperphenylalaninemia, Bh4-Deficient, D PCBD1 MONDO:0009908 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 MONDO:0011612 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 MONDO:0012074 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 MONDO:0012700 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 MONDO:0012994 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 MONDO:0012099 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 MONDO:0100255 coenzyme q10 deficiency, primary, 6 coenzyme_q10_deficiency_primary_6 Coenzyme Q10 Deficiency, Primary, 6 COQ6 MONDO:0013836 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 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 MONDO:0010829 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 MONDO:0024552 palmoplantar carcinoma, multiple self-healing palmoplantar_carcinoma_multiple_self_healing Palmoplantar Carcinoma, Multiple Self-Healing NLRP1 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 MONDO:0013116 boucher-neuhauser syndrome boucher_neuhauser_syndrome_2 Boucher-Neuhauser Syndrome PNPLA6 MONDO:0008980 cholestasis, benign recurrent intrahepatic, 2 cholestasis_benign_recurrent_intrahepatic_2 Cholestasis, Benign Recurrent Intrahepatic, 2 ABCB11 MONDO:0011559 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 corticosterone methyloxidase type i deficiency corticosterone_methyloxidase_type_i_deficiency Corticosterone Methyloxidase Type I Deficiency CYP11B2 immunodeficiency 31c immunodeficiency_31c Immunodeficiency 31c STAT1 interstitial nephritis, karyomegalic interstitial_nephritis_karyomegalic Interstitial Nephritis, Karyomegalic FAN1 MONDO:0013898 microphthalmia/coloboma and skeletal dysplasia syndrome microphthalmia_coloboma_and_skeletal_dysplasia_syndrome Microphthalmia/coloboma and Skeletal Dysplasia Syndrome MAB21L2 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 MONDO:0016558 autoinflammatory syndrome, familial, behcet-like autoinflammatory_syndrome_familial_behcet_like Autoinflammatory Syndrome, Familial, Behcet-Like TNFAIP3 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 MONDO:0014684 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 MONDO:0014557 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 MONDO:0010461 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 MONDO:0014526 dyskinesia, familial, with facial myokymia dyskinesia_familial_with_facial_myokymia Dyskinesia, Familial, with Facial Myokymia ADCY5 spastic paraplegia 9b, autosomal recessive spastic_paraplegia_9b_autosomal_recessive Spastic Paraplegia 9b, Autosomal Recessive ALDH18A1 MONDO:0014702 combined oxidative phosphorylation deficiency 4 combined_oxidative_phosphorylation_deficiency_4 Combined Oxidative Phosphorylation Deficiency 4 TUFM MONDO:0012534 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 MONDO:0013458 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 MONDO:0011537 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 MONDO:0013351 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 MONDO:0008048 spinal muscular atrophy, x-linked 2 spinal_muscular_atrophy_x_linked_2 Spinal Muscular Atrophy, X-Linked 2 UBA1 MONDO:0010532 asparagine synthetase deficiency asparagine_synthetase_deficiency Asparagine Synthetase Deficiency ASNS MONDO:0014258 coenzyme q10 deficiency, primary, 2 coenzyme_q10_deficiency_primary_2 Coenzyme Q10 Deficiency, Primary, 2 PDSS1 MONDO:0013837 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 MONDO:0014882 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 anemia, sideroblastic, 3, pyridoxine-refractory anemia_sideroblastic_3_pyridoxine_refractory Anemia, Sideroblastic, 3, Pyridoxine-Refractory GLRX5 MONDO:0014804 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 MONDO:0014605 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 MONDO:0030908 striatonigral degeneration, childhood-onset striatonigral_degeneration_childhood_onset Striatonigral Degeneration, Childhood-Onset VAC14 MONDO:0014889 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 MONDO:0010477 spinal muscular atrophy, type i spinal_muscular_atrophy_type_i Spinal Muscular Atrophy, Type I SMN1 MONDO:0009669 foveal hypoplasia 2 foveal_hypoplasia_2 Foveal Hypoplasia 2 SLC38A8 charcot-marie-tooth disease, axonal, type 2u charcot_marie_tooth_disease_axonal_type_2u Charcot-Marie-Tooth Disease, Axonal, Type 2u MARS MONDO:0014566 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 MONDO:0014273 combined oxidative phosphorylation deficiency 5 combined_oxidative_phosphorylation_deficiency_5 Combined Oxidative Phosphorylation Deficiency 5 MRPS22 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 MONDO:0013626 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 MONDO:0010066 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 MONDO:0013811 pulmonary venoocclusive disease 2, autosomal recessive pulmonary_venoocclusive_disease_2_autosomal_recessive Pulmonary Venoocclusive Disease 2, Autosomal Recessive EIF2AK4 MONDO:0009329 congenital cataracts, hearing loss, and neurodegeneration congenital_cataracts_hearing_loss_and_neurodegeneration Congenital Cataracts, Hearing Loss, and Neurodegeneration SLC33A1 MONDO:0013772 erythrocyte lactate transporter defect erythrocyte_lactate_transporter_defect Erythrocyte Lactate Transporter Defect SLC16A1 MONDO:0009501 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 MONDO:0014567 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 spondyloepimetaphyseal dysplasia, x-linked spondyloepimetaphyseal_dysplasia_x_linked_2 Spondyloepimetaphyseal Dysplasia, X-Linked BGN immunodeficiency 23 immunodeficiency_23 Immunodeficiency 23 PGM3 MONDO:0014353 lipoyltransferase 1 deficiency lipoyltransferase_1_deficiency Lipoyltransferase 1 Deficiency LIPT1 MONDO:0014576 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 MONDO:0028226 alagille syndrome 2 alagille_syndrome_2 Alagille Syndrome 2 NOTCH2 multiple pterygium syndrome, lethal type multiple_pterygium_syndrome_lethal_type_2 Multiple Pterygium Syndrome, Lethal Type CHRNG MONDO:0009668 epilepsy, progressive myoclonic, 6 epilepsy_progressive_myoclonic_6_2 Epilepsy, Progressive Myoclonic, 6 GOSR2 MONDO:0013526 spastic ataxia 5, autosomal recessive spastic_ataxia_5_autosomal_recessive Spastic Ataxia 5, Autosomal Recessive AFG3L2 MONDO:0013776 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 MONDO:0014238 oliver-mcfarlane syndrome oliver_mcfarlane_syndrome Oliver-Mcfarlane Syndrome PNPLA6 MONDO:0010152 trichohepatoenteric syndrome 1 trichohepatoenteric_syndrome_1 Trichohepatoenteric Syndrome 1 TTC37 MONDO:0024541 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 MONDO:0011964 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 thiamine metabolism dysfunction syndrome 4 thiamine_metabolism_dysfunction_syndrome_4 Thiamine Metabolism Dysfunction Syndrome 4 SLC25A19 MONDO:0013382 congenital disorder of glycosylation, type ih congenital_disorder_of_glycosylation_type_ih Congenital Disorder of Glycosylation, Type Ih ALG8 MONDO:0011969 lethal congenital contracture syndrome 5 lethal_congenital_contracture_syndrome_5 Lethal Congenital Contracture Syndrome 5 DNM2 immunodeficiency 32a immunodeficiency_32a Immunodeficiency 32a IRF8 lethal congenital contracture syndrome 3 lethal_congenital_contracture_syndrome_3 Lethal Congenital Contracture Syndrome 3 PIP5K1C MONDO:0012656 immunodeficiency 30 immunodeficiency_30 Immunodeficiency 30 IL12RB1 microphthalmia, syndromic 5 microphthalmia_syndromic_5_2 Microphthalmia, Syndromic 5 OTX2 immunodeficiency 28 immunodeficiency_28 Immunodeficiency 28 IFNGR2 multiple pterygium syndrome, lethal type multiple_pterygium_syndrome_lethal_type_2 Multiple Pterygium Syndrome, Lethal Type CHRNA1 MONDO:0009668 mental retardation, autosomal recessive 36 mental_retardation_autosomal_recessive_36 Mental Retardation, Autosomal Recessive 36 ADAT3 MONDO:0014119 hypertriglyceridemia, transient infantile hypertriglyceridemia_transient_infantile Hypertriglyceridemia, Transient Infantile GPD1 MONDO:0013771 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 MONDO:0010998 hyperglycinemia, lactic acidosis, and seizures hyperglycinemia_lactic_acidosis_and_seizures Hyperglycinemia, Lactic Acidosis, and Seizures LIAS MONDO:0013762 congenital disorder of glycosylation, type ie congenital_disorder_of_glycosylation_type_ie Congenital Disorder of Glycosylation, Type Ie DPM1 MONDO:0012123 syndactyly, type iii syndactyly_type_iii Syndactyly, Type Iii GJA1 charcot-marie-tooth disease, dominant intermediate f charcot_marie_tooth_disease_dominant_intermediate_f Charcot-Marie-Tooth Disease, Dominant Intermediate F GNB4 MONDO:0014074 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive EGR2 MONDO:0011527 osteoarthritis with mild chondrodysplasia osteoarthritis_with_mild_chondrodysplasia Osteoarthritis with Mild Chondrodysplasia COL2A1 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 MONDO:0010926 microphthalmia, syndromic 6 microphthalmia_syndromic_6_2 Microphthalmia, Syndromic 6 BMP4 spinocerebellar ataxia 42 spinocerebellar_ataxia_42 Spinocerebellar Ataxia 42 CACNA1G cerebellofaciodental syndrome cerebellofaciodental_syndrome Cerebellofaciodental Syndrome BRF1 MONDO:0014529 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 MONDO:0011911 myopathy, centronuclear, 2 myopathy_centronuclear_2 Myopathy, Centronuclear, 2 BIN1 MONDO:0009709 parastremmatic dwarfism parastremmatic_dwarfism Parastremmatic Dwarfism TRPV4 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 immunodeficiency 8 immunodeficiency_8 Immunodeficiency 8 CORO1A MONDO:0014168 hyperthyroidism, familial gestational hyperthyroidism_familial_gestational Hyperthyroidism, Familial Gestational TSHR cerebrocostomandibular syndrome cerebrocostomandibular_syndrome Cerebrocostomandibular Syndrome SNRPB MONDO:0007301 dysfibrinogenemia, congenital dysfibrinogenemia_congenital Dysfibrinogenemia, Congenital FGG immunodeficiency 33 immunodeficiency_33 Immunodeficiency 33 IKBKG immunodeficiency 34 immunodeficiency_34 Immunodeficiency 34 CYBB MONDO:0010389 dysfibrinogenemia, congenital dysfibrinogenemia_congenital Dysfibrinogenemia, Congenital FGA diarrhea 6 diarrhea_6 Diarrhea 6 GUCY2C syndactyly, type v syndactyly_type_v Syndactyly, Type V HOXD13 trichomegaly trichomegaly Trichomegaly FGF5 MONDO:0008593 immunodeficiency 9 immunodeficiency_9 Immunodeficiency 9 ORAI1 immunodeficiency 10 immunodeficiency_10 Immunodeficiency 10 STIM1 3-hydroxyisobutyryl-coa hydrolase deficiency 3_hydroxyisobutyryl_coa_hydrolase_deficiency 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency HIBCH MONDO:0009603 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 MONDO:0012231 epiphyseal dysplasia, multiple, 4 epiphyseal_dysplasia_multiple_4 Epiphyseal Dysplasia, Multiple, 4 SLC26A2 MONDO:0009189 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 neuronopathy, distal hereditary motor, type viii neuronopathy_distal_hereditary_motor_type_viii Neuronopathy, Distal Hereditary Motor, Type Viii TRPV4 stickler syndrome, type ii stickler_syndrome_type_ii Stickler Syndrome, Type Ii COL11A1 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 MONDO:0009672 chorea, benign hereditary chorea_benign_hereditary Chorea, Benign Hereditary NKX2-1 hyperinsulinemic hypoglycemia, familial, 6 hyperinsulinemic_hypoglycemia_familial_6 Hyperinsulinemic Hypoglycemia, Familial, 6 GLUD1 MONDO:0011717 hypothyroidism, congenital, nongoitrous, 2 hypothyroidism_congenital_nongoitrous_2 Hypothyroidism, Congenital, Nongoitrous, 2 PAX8 MONDO:0024264 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 MONDO:0013644 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 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 MONDO:0011818 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 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 MONDO:0012650 glutamine deficiency, congenital glutamine_deficiency_congenital Glutamine Deficiency, Congenital GLUL MONDO:0012393 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 MONDO:0013275 17-beta hydroxysteroid dehydrogenase iii deficiency 17_beta_hydroxysteroid_dehydrogenase_iii_deficiency 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency HSD17B3 MONDO:0009916 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 MONDO:0008453 leptin deficiency or dysfunction leptin_deficiency_or_dysfunction Leptin Deficiency or Dysfunction LEP 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 odontoonychodermal dysplasia odontoonychodermal_dysplasia Odontoonychodermal Dysplasia WNT10A amyotrophic lateral sclerosis 4, juvenile amyotrophic_lateral_sclerosis_4_juvenile Amyotrophic Lateral Sclerosis 4, Juvenile SETX MONDO:0011223 immunodeficiency with hyper-igm, type 5 immunodeficiency_with_hyper_igm_type_5_3 Immunodeficiency with Hyper-Igm, Type 5 UNG MONDO:0011971 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 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 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 MONDO:0015286 schindler disease, type i schindler_disease_type_i Schindler Disease, Type I NAGA MONDO:0012221 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 myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy_lactic_acidosis_and_sideroblastic_anemia_1 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 MONDO:0024553 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 immunodeficiency 14 immunodeficiency_14 Immunodeficiency 14 PIK3CD MONDO:0014222 congenital disorder of glycosylation, type iij congenital_disorder_of_glycosylation_type_iij Congenital Disorder of Glycosylation, Type Iij COG4 MONDO:0013281 congenital disorder of glycosylation, type iik congenital_disorder_of_glycosylation_type_iik Congenital Disorder of Glycosylation, Type Iik TMEM165 MONDO:0013870 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant ceroid_lipofuscinosis_neuronal_4b_autosomal_dominant_2 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant DNAJC5 MONDO:0008083 congenital disorder of glycosylation, type iic congenital_disorder_of_glycosylation_type_iic Congenital Disorder of Glycosylation, Type Iic SLC35C1 MONDO:0009953 congenital disorder of glycosylation, type ip congenital_disorder_of_glycosylation_type_ip Congenital Disorder of Glycosylation, Type Ip ALG11 MONDO:0013349 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 MONDO:0009259 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 MONDO:0013223 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 MONDO:0011236 properdin deficiency, x-linked properdin_deficiency_x_linked Properdin Deficiency, X-Linked CFP glycogen storage disease x glycogen_storage_disease_x Glycogen Storage Disease X PGAM2 MONDO:0009865 corpus callosum, partial agenesis of, x-linked corpus_callosum_partial_agenesis_of_x_linked Corpus Callosum, Partial Agenesis of, X-Linked L1CAM 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 MONDO:0014370 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 MONDO:0019107 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 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 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 MONDO:0012034 pseudohypoparathyroidism, type ic pseudohypoparathyroidism_type_ic Pseudohypoparathyroidism, Type Ic GNAS 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 MONDO:0009376 hypercholanemia, familial hypercholanemia_familial Hypercholanemia, Familial TJP2 atelosteogenesis, type i atelosteogenesis_type_i Atelosteogenesis, Type I FLNB li-fraumeni syndrome li_fraumeni_syndrome Li-Fraumeni Syndrome TP53 MONDO:0018875 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 MONDO:0010150 alport syndrome, x-linked alport_syndrome_x_linked Alport Syndrome, X-Linked COL4A5 MONDO:0018965 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 MONDO:0008730 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 MONDO:0011683 anemia, congenital dyserythropoietic, type ii anemia_congenital_dyserythropoietic_type_ii Anemia, Congenital Dyserythropoietic, Type Ii SEC23B MONDO:0009134 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 MONDO:0008675 arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 TPM2 MONDO:0007158 arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 TNNT3 MONDO:0007158 arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 TNNI2 MONDO:0007158 arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 MYH3 MONDO:0007158 arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 PIEZO2 MONDO:0007158 arthrogryposis, distal, type 7 arthrogryposis_distal_type_7 Arthrogryposis, Distal, Type 7 MYH8 MONDO:0008016 arthrogryposis, distal, type 8 arthrogryposis_distal_type_8 Arthrogryposis, Distal, Type 8 MYH3 MONDO:0008338 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 MONDO:0011291 congenital disorder of glycosylation, type iib congenital_disorder_of_glycosylation_type_iib Congenital Disorder of Glycosylation, Type Iib MOGS MONDO:0011629 congenital disorder of glycosylation, type iil congenital_disorder_of_glycosylation_type_iil_2 Congenital Disorder of Glycosylation, Type Iil COG6 MONDO:0013810 congenital disorder of glycosylation, type im congenital_disorder_of_glycosylation_type_im Congenital Disorder of Glycosylation, Type Im DOLK MONDO:0012556 congenital disorder of glycosylation, type io congenital_disorder_of_glycosylation_type_io Congenital Disorder of Glycosylation, Type Io DPM3 MONDO:0013049 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 iib cutis_laxa_autosomal_recessive_type_iib Cutis Laxa, Autosomal Recessive, Type Iib PYCR1 MONDO:0013051 cutis laxa, autosomal recessive, type iiib cutis_laxa_autosomal_recessive_type_iiib Cutis Laxa, Autosomal Recessive, Type Iiib PYCR1 MONDO:0013755 cystinosis, adult nonnephropathic cystinosis_adult_nonnephropathic Cystinosis, Adult Nonnephropathic CTNS epiphyseal dysplasia, multiple, 5 epiphyseal_dysplasia_multiple_5 Epiphyseal Dysplasia, Multiple, 5 MATN3 folate malabsorption, hereditary folate_malabsorption_hereditary Folate Malabsorption, Hereditary SLC46A1 MONDO:0009238 glutaric aciduria iii glutaric_aciduria_iii Glutaric Aciduria Iii SUGCT 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 MONDO:0010802 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 MONDO:0009340 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 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 MONDO:0012516 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 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 MONDO:0008133 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 2, autosomal recessive juvenile parkinson_disease_2_autosomal_recessive_juvenile Parkinson Disease 2, Autosomal Recessive Juvenile PRKN MONDO:0010820 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 MONDO:0013782 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 MONDO:0009998 roussy-levy hereditary areflexic dystasia roussy_levy_hereditary_areflexic_dystasia Roussy-Levy Hereditary Areflexic Dystasia MPZ 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 MONDO:0010338 vitreoretinal degeneration, snowflake type vitreoretinal_degeneration_snowflake_type Vitreoretinal Degeneration, Snowflake Type KCNJ13 galactosemia galactosemia Galactosemia GALT MONDO:0018116 porphyria cutanea tarda porphyria_cutanea_tarda Porphyria Cutanea Tarda UROD MONDO:0019799 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor KIT MONDO:0011719 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor PDGFRA MONDO:0011719 amyloidosis, hereditary, transthyretin-related amyloidosis_hereditary_transthyretin_related Amyloidosis, Hereditary, Transthyretin-Related TTR MONDO:0007100 urocanase deficiency urocanase_deficiency Urocanase Deficiency UROC1 hypertryptophanemia hypertryptophanemia Hypertryptophanemia TDO2 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 MONDO:0014455 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 MONDO:0009008 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 MONDO:0054741 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 MONDO:0007350 spinal muscular atrophy with progressive myoclonic epilepsy spinal_muscular_atrophy_with_progressive_myoclonic_epilepsy Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy ASAH1 dyschromatosis symmetrica hereditaria dyschromatosis_symmetrica_hereditaria Dyschromatosis Symmetrica Hereditaria ADAR MONDO:0007483 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv COL1A2 MONDO:0008148 fructose-1,6-bisphosphatase deficiency fructose_16_bisphosphatase_deficiency Fructose-1,6-Bisphosphatase Deficiency FBP1 MONDO:0009251 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 omenn syndrome omenn_syndrome Omenn Syndrome RAG2 MONDO:0011338 pseudovaginal perineoscrotal hypospadias pseudovaginal_perineoscrotal_hypospadias Pseudovaginal Perineoscrotal Hypospadias SRD5A2 mucopolysaccharidosis, type iiia mucopolysaccharidosis_type_iiia_2 Mucopolysaccharidosis, Type Iiia SGSH omenn syndrome omenn_syndrome Omenn Syndrome DCLRE1C MONDO:0011338 mucopolysaccharidosis, type iiib mucopolysaccharidosis_type_iiib Mucopolysaccharidosis, Type Iiib NAGLU glutathione synthetase deficiency glutathione_synthetase_deficiency Glutathione Synthetase Deficiency GSS MONDO:0017909 diarrhea 1, secretory chloride, congenital diarrhea_1_secretory_chloride_congenital Diarrhea 1, Secretory Chloride, Congenital SLC26A3 MONDO:0008964 osteogenesis imperfecta, type ii osteogenesis_imperfecta_type_ii Osteogenesis Imperfecta, Type Ii COL1A2 MONDO:0008147 metacarpal 4-5 fusion metacarpal_4_5_fusion Metacarpal 4-5 Fusion FGF16 omenn syndrome omenn_syndrome Omenn Syndrome RAG1 MONDO:0011338 galactosialidosis galactosialidosis Galactosialidosis CTSA MONDO:0009737 ehlers-danlos syndrome, classic type, 1 ehlers_danlos_syndrome_classic_type_1 Ehlers-Danlos Syndrome, Classic Type, 1 COL5A1 alpha-methylacetoacetic aciduria alpha_methylacetoacetic_aciduria Alpha-Methylacetoacetic Aciduria ACAT1 MONDO:0008760 ectodermal dysplasia 1, hypohidrotic, x-linked ectodermal_dysplasia_1_hypohidrotic_x_linked Ectodermal Dysplasia 1, Hypohidrotic, X-Linked EDA congenital disorder of glycosylation, type ia congenital_disorder_of_glycosylation_type_ia_2 Congenital Disorder of Glycosylation, Type Ia PMM2 MONDO:0008907 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 MONDO:0011614 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 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 MONDO:0012399 familial adenomatous polyposis 2 familial_adenomatous_polyposis_2 Familial Adenomatous Polyposis 2 MUTYH MONDO:0012041 hyper-igd syndrome hyper_igd_syndrome Hyper-Igd Syndrome MVK MONDO:0009849 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 mental retardation, autosomal dominant 35 mental_retardation_autosomal_dominant_35 Mental Retardation, Autosomal Dominant 35 PPP2R5D MONDO:0014602 mental retardation, autosomal dominant 47 mental_retardation_autosomal_dominant_47 Mental Retardation, Autosomal Dominant 47 STAG1 MONDO:0030912 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 MONDO:0012052 melanocytic nevus syndrome, congenital melanocytic_nevus_syndrome_congenital Melanocytic Nevus Syndrome, Congenital NRAS MONDO:0044792 immunodeficiency 27a immunodeficiency_27a Immunodeficiency 27a IFNGR1 takenouchi-kosaki syndrome takenouchi_kosaki_syndrome Takenouchi-Kosaki Syndrome CDC42 MONDO:0014757 cataract 30, multiple types cataract_30_multiple_types Cataract 30, Multiple Types VIM pleuropulmonary blastoma pleuropulmonary_blastoma Pleuropulmonary Blastoma DICER1 MONDO:0011014 mucopolysaccharidosis, type iva mucopolysaccharidosis_type_iva Mucopolysaccharidosis, Type Iva GALNS MONDO:0009659 galactokinase deficiency galactokinase_deficiency Galactokinase Deficiency GALK1 MONDO:0009255 aplasia cutis congenita, nonsyndromic aplasia_cutis_congenita_nonsyndromic Aplasia Cutis Congenita, Nonsyndromic BMS1 MONDO:0007145 congenital disorder of glycosylation, type ir congenital_disorder_of_glycosylation_type_ir Congenital Disorder of Glycosylation, Type Ir DDOST MONDO:0013789 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 hyperprolinemia, type i hyperprolinemia_type_i Hyperprolinemia, Type I PRODH MONDO:0009400 spastic paraplegia 12, autosomal dominant spastic_paraplegia_12_autosomal_dominant Spastic Paraplegia 12, Autosomal Dominant RTN2 MONDO:0011489 renal tubular dysgenesis renal_tubular_dysgenesis Renal Tubular Dysgenesis REN mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COX6B1 MONDO:0009068 homocystinuria due to cystathionine beta-synthase deficiency homocystinuria_due_to_cystathionine_beta_synthase_deficiency Homocystinuria Due to Cystathionine Beta-Synthase Deficiency CBS MONDO:0009352 spastic paraplegia 13, autosomal dominant spastic_paraplegia_13_autosomal_dominant Spastic Paraplegia 13, Autosomal Dominant HSPD1 MONDO:0011532 renal tubular dysgenesis renal_tubular_dysgenesis Renal Tubular Dysgenesis AGTR1 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 MONDO:0011687 cholestasis, progressive familial intrahepatic, 1 cholestasis_progressive_familial_intrahepatic_1_2 Cholestasis, Progressive Familial Intrahepatic, 1 ATP8B1 MONDO:0008892 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 MONDO:0018996 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 MONDO:0009068 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 MONDO:0014775 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 MONDO:0011897 megaloblastic anemia 1 megaloblastic_anemia_1 Megaloblastic Anemia 1 AMN mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COX20 MONDO:0009068 nevus comedonicus nevus_comedonicus Nevus Comedonicus NEK9 gaba-transaminase deficiency gaba_transaminase_deficiency Gaba-Transaminase Deficiency ABAT MONDO:0013166 even-plus syndrome even_plus_syndrome Even-Plus Syndrome HSPA9 MONDO:0014801 leukodystrophy, hypomyelinating, 10 leukodystrophy_hypomyelinating_10 Leukodystrophy, Hypomyelinating, 10 PYCR2 MONDO:0014632 spastic paraplegia 39, autosomal recessive spastic_paraplegia_39_autosomal_recessive Spastic Paraplegia 39, Autosomal Recessive PNPLA6 MONDO:0012787 spastic paraplegia 17, autosomal dominant spastic_paraplegia_17_autosomal_dominant Spastic Paraplegia 17, Autosomal Dominant BSCL2 MONDO:0010043 cardiospondylocarpofacial syndrome cardiospondylocarpofacial_syndrome Cardiospondylocarpofacial Syndrome MAP3K7 peho syndrome peho_syndrome Peho Syndrome ZNHIT3 MONDO:0009841 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv COL1A1 MONDO:0008148 osteogenesis imperfecta, type ii osteogenesis_imperfecta_type_ii Osteogenesis Imperfecta, Type Ii COL1A1 MONDO:0008147 cryohydrocytosis cryohydrocytosis Cryohydrocytosis SLC4A1 MONDO:0008494 mucopolysaccharidosis-plus syndrome mucopolysaccharidosis_plus_syndrome Mucopolysaccharidosis-Plus Syndrome VPS33A MONDO:0019249 hyperuricemic nephropathy, familial juvenile, 1 hyperuricemic_nephropathy_familial_juvenile_1_2 Hyperuricemic Nephropathy, Familial Juvenile, 1 UMOD MONDO:0000608 myopathy, centronuclear, x-linked myopathy_centronuclear_x_linked Myopathy, Centronuclear, X-Linked MTM1 MONDO:0010683 basal ganglia calcification, idiopathic, 1 basal_ganglia_calcification_idiopathic_1 Basal Ganglia Calcification, Idiopathic, 1 SLC20A2 MONDO:0024538 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 MONDO:0009192 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 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 MONDO:0000104 combined oxidative phosphorylation deficiency 31 combined_oxidative_phosphorylation_deficiency_31 Combined Oxidative Phosphorylation Deficiency 31 MIPEP MONDO:0014976 mitochondrial dna depletion syndrome 8a mitochondrial_dna_depletion_syndrome_8a_encephalomyopathic_type_with_renal_tubulopathy Mitochondrial Dna Depletion Syndrome 8a RRM2B MONDO:0012792 pyogenic sterile arthritis, pyoderma gangrenosum, and acne pyogenic_sterile_arthritis_pyoderma_gangrenosum_and_acne Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne PSTPIP1 MONDO:0011462 microcephaly, congenital cataract, and psoriasiform dermatitis microcephaly_congenital_cataract_and_psoriasiform_dermatitis Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis MSMO1 MONDO:0014793 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 MONDO:0010939 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 MONDO:0011006 congenital disorder of glycosylation, type iip congenital_disorder_of_glycosylation_type_iip Congenital Disorder of Glycosylation, Type Iip TMEM199 MONDO:0014790 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 MONDO:0013675 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 MONDO:0009416 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 MONDO:0008493 myopathy, mitochondrial, and ataxia myopathy_mitochondrial_and_ataxia Myopathy, Mitochondrial, and Ataxia MSTO1 MONDO:0044714 pseudohypoparathyroidism, type ia pseudohypoparathyroidism_type_ia_2 Pseudohypoparathyroidism, Type Ia GNAS congenital disorder of glycosylation, type ig congenital_disorder_of_glycosylation_type_ig Congenital Disorder of Glycosylation, Type Ig ALG12 MONDO:0011783 leukodystrophy, hypomyelinating, 12 leukodystrophy_hypomyelinating_12 Leukodystrophy, Hypomyelinating, 12 VPS11 MONDO:0014732 leukodystrophy, hypomyelinating, 13 leukodystrophy_hypomyelinating_13 Leukodystrophy, Hypomyelinating, 13 HIKESHI MONDO:0014813 craniosynostosis 4 craniosynostosis_4 Craniosynostosis 4 ERF immunodeficiency 48 immunodeficiency_48 Immunodeficiency 48 ZAP70 myopathy, proximal, and ophthalmoplegia myopathy_proximal_and_ophthalmoplegia Myopathy, Proximal, and Ophthalmoplegia MYH2 MONDO:0011577 infantile sialic acid storage disease infantile_sialic_acid_storage_disease Infantile Sialic Acid Storage Disease SLC17A5 MONDO:0010027 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 MONDO:0007415 pyridoxamine 5-prime-phosphate oxidase deficiency pyridoxamine_5_prime_phosphate_oxidase_deficiency Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency PNPO MONDO:0012407 tibial muscular dystrophy, tardive tibial_muscular_dystrophy_tardive Tibial Muscular Dystrophy, Tardive TTN hyperprolinemia, type ii hyperprolinemia_type_ii Hyperprolinemia, Type Ii ALDH4A1 MONDO:0009400 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 MONDO:0009353 neuropathy, hereditary motor and sensory, type via neuropathy_hereditary_motor_and_sensory_type_via Neuropathy, Hereditary Motor and Sensory, Type Via MFN2 MONDO:0019551 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 MONDO:0009607 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 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 MONDO:0015912 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 congenital disorder of glycosylation, type iu congenital_disorder_of_glycosylation_type_iu Congenital Disorder of Glycosylation, Type Iu DPM2 MONDO:0014023 cutis laxa, autosomal recessive, type iiia cutis_laxa_autosomal_recessive_type_iiia Cutis Laxa, Autosomal Recessive, Type Iiia ALDH18A1 MONDO:0009053 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 mitochondrial complex v deficiency, nuclear type 2 mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_2 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 MONDO:0013546 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 MONDO:0007900 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 2 spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_2 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 KIF22 MONDO:0011335 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 MONDO:0004989 neurodegeneration with brain iron accumulation 5 neurodegeneration_with_brain_iron_accumulation_5 Neurodegeneration with Brain Iron Accumulation 5 WDR45 MONDO:0010476 nevus, epidermal nevus_epidermal Nevus, Epidermal HRAS MONDO:0008093 breast cancer breast_cancer Breast Cancer CHEK2 MONDO:0004989 pontocerebellar hypoplasia, type 5 pontocerebellar_hypoplasia_type_5_2 Pontocerebellar Hypoplasia, Type 5 TSEN54 MONDO:0012438 diastrophic dysplasia diastrophic_dysplasia Diastrophic Dysplasia SLC26A2 MONDO:0009107 aceruloplasminemia aceruloplasminemia Aceruloplasminemia CP MONDO:0000437 breast cancer breast_cancer Breast Cancer PALB2 MONDO:0004989 rhabdoid tumor predisposition syndrome 1 rhabdoid_tumor_predisposition_syndrome_1 Rhabdoid Tumor Predisposition Syndrome 1 SMARCB1 MONDO:0012252 meningioma, familial meningioma_familial Meningioma, Familial SMARCE1 MONDO:0011789 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 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia NF1 MONDO:0011908 2,4-dienoyl-coa reductase deficiency 24_dienoyl_coa_reductase_deficiency 2,4-Dienoyl-Coa Reductase Deficiency NADK2 spastic paraplegia 63, autosomal recessive spastic_paraplegia_63_autosomal_recessive Spastic Paraplegia 63, Autosomal Recessive AMPD2 MONDO:0014305 keutel syndrome keutel_syndrome Keutel Syndrome MGP oculopharyngeal muscular dystrophy oculopharyngeal_muscular_dystrophy Oculopharyngeal Muscular Dystrophy PABPN1 MONDO:0008116 parathyroid carcinoma parathyroid_carcinoma Parathyroid Carcinoma CDC73 MONDO:0012004 thrombophilia due to activated protein c resistance thrombophilia_due_to_activated_protein_c_resistance Thrombophilia Due to Activated Protein C Resistance F5 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 MONDO:0010463 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 MONDO:0014495 spastic paraplegia 74, autosomal recessive spastic_paraplegia_74_autosomal_recessive Spastic Paraplegia 74, Autosomal Recessive IBA57 MONDO:0014644 spinocerebellar ataxia 12 spinocerebellar_ataxia_12 Spinocerebellar Ataxia 12 PPP2R2B MONDO:0011439 arthrogryposis, mental retardation, and seizures arthrogryposis_mental_retardation_and_seizures Arthrogryposis, Mental Retardation, and Seizures SLC35A3 MONDO:0014248 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 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 MONDO:0014497 meckel syndrome 12 meckel_syndrome_12 Meckel Syndrome 12 KIF14 MONDO:0014552 myosclerosis, autosomal recessive myosclerosis_autosomal_recessive Myosclerosis, Autosomal Recessive COL6A2 diarrhea 7 diarrhea_7 Diarrhea 7 DGAT1 MONDO:0014375 nijmegen breakage syndrome-like disorder nijmegen_breakage_syndrome_like_disorder Nijmegen Breakage Syndrome-Like Disorder RAD50 MONDO:0013118 microhydranencephaly microhydranencephaly Microhydranencephaly NDE1 pheochromocytoma pheochromocytoma Pheochromocytoma MAX MONDO:0004974 ectodermal dysplasia/skin fragility syndrome ectodermal_dysplasia_skin_fragility_syndrome Ectodermal Dysplasia/skin Fragility Syndrome PKP1 marshall syndrome marshall_syndrome Marshall Syndrome COL11A1 bainbridge-ropers syndrome bainbridge_ropers_syndrome Bainbridge-Ropers Syndrome ASXL3 spastic paraplegia 30, autosomal recessive spastic_paraplegia_30_autosomal_recessive Spastic Paraplegia 30, Autosomal Recessive KIF1A MONDO:0012476 tropical calcific pancreatitis tropical_calcific_pancreatitis Tropical Calcific Pancreatitis SPINK1 pontocerebellar hypoplasia, type 6 pontocerebellar_hypoplasia_type_6_2 Pontocerebellar Hypoplasia, Type 6 RARS2 MONDO:0012683 metachromatic leukodystrophy metachromatic_leukodystrophy Metachromatic Leukodystrophy ARSA MONDO:0018868 netherton syndrome netherton_syndrome Netherton Syndrome SPINK5 MONDO:0010686 breast cancer breast_cancer Breast Cancer PIK3CA MONDO:0004989 poikiloderma with neutropenia poikiloderma_with_neutropenia Poikiloderma with Neutropenia USB1 MONDO:0011405 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 MONDO:0005501 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 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 MONDO:0010671 breast cancer breast_cancer Breast Cancer RAD51 MONDO:0004989 spinocerebellar ataxia 36 spinocerebellar_ataxia_36 Spinocerebellar Ataxia 36 NOP56 MONDO:0013594 hypercholesterolemia, autosomal dominant, 3 hypercholesterolemia_autosomal_dominant_3 Hypercholesterolemia, Autosomal Dominant, 3 PCSK9 MONDO:0011369 pheochromocytoma pheochromocytoma Pheochromocytoma TMEM127 MONDO:0004974 bladder cancer bladder_cancer Bladder Cancer FGFR3 MONDO:0004986 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 MONDO:0005148 glomuvenous malformations glomuvenous_malformations Glomuvenous Malformations GLMN MONDO:0007672 naxos disease naxos_disease Naxos Disease JUP reynolds syndrome reynolds_syndrome Reynolds Syndrome LBR MONDO:0013276 familial expansile osteolysis familial_expansile_osteolysis Familial Expansile Osteolysis TNFRSF11A breast-ovarian cancer, familial 1 breast_ovarian_cancer_familial_1_2 Breast-Ovarian Cancer, Familial 1 BRCA1 MONDO:0003582 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 muscle hypertrophy muscle_hypertrophy Muscle Hypertrophy MSTN limb-mammary syndrome limb_mammary_syndrome Limb-Mammary Syndrome TP63 osteogenic sarcoma osteogenic_sarcoma Osteogenic Sarcoma TP53 MONDO:0009807 colorectal cancer colorectal_cancer Colorectal Cancer PIK3CA MONDO:0005575 liddle syndrome liddle_syndrome Liddle Syndrome SCNN1G MONDO:0008323 alzheimer disease alzheimer_disease Alzheimer Disease APP MONDO:0100087 spinocerebellar ataxia 10 spinocerebellar_ataxia_10 Spinocerebellar Ataxia 10 ATXN10 MONDO:0011330 schneckenbecken dysplasia schneckenbecken_dysplasia Schneckenbecken Dysplasia SLC35D1 MONDO:0010013 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 MONDO:0027353 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 MONDO:0003608 lymphangioleiomyomatosis lymphangioleiomyomatosis Lymphangioleiomyomatosis TSC1 MONDO:0011705 neuroblastoma 3 neuroblastoma_3 Neuroblastoma 3 ALK epileptic encephalopathy, early infantile, 23 epileptic_encephalopathy_early_infantile_23 Epileptic Encephalopathy, Early Infantile, 23 DOCK7 rubinstein-taybi syndrome 2 rubinstein_taybi_syndrome_2 Rubinstein-Taybi Syndrome 2 EP300 seizures, cortical blindness, and microcephaly syndrome seizures_cortical_blindness_and_microcephaly_syndrome Seizures, Cortical Blindness, and Microcephaly Syndrome DIAPH1 MONDO:0014714 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 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 hydrops, lactic acidosis, and sideroblastic anemia hydrops_lactic_acidosis_and_sideroblastic_anemia Hydrops, Lactic Acidosis, and Sideroblastic Anemia LARS2 MONDO:0014869 epilepsy, idiopathic generalized 12 epilepsy_idiopathic_generalized_12 Epilepsy, Idiopathic Generalized 12 SLC2A1 inosine triphosphatase deficiency inosine_triphosphatase_deficiency Inosine Triphosphatase Deficiency ITPA MONDO:0013461 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 MONDO:0005233 perrault syndrome 2 perrault_syndrome_2 Perrault Syndrome 2 HARS2 MONDO:0013972 zttk syndrome zttk_syndrome Zttk Syndrome SON MONDO:0014936 malignant hyperthermia 5 malignant_hyperthermia_5 Malignant Hyperthermia 5 CACNA1S floating-harbor syndrome floating_harbor_syndrome Floating-Harbor Syndrome SRCAP MONDO:0007621 niemann-pick disease, type c1 niemann_pick_disease_type_c1_2 Niemann-Pick Disease, Type C1 NPC1 MONDO:0009757 anauxetic dysplasia 1 anauxetic_dysplasia_1 Anauxetic Dysplasia 1 RMRP MONDO:0011773 pyruvate dehydrogenase phosphatase deficiency pyruvate_dehydrogenase_phosphatase_deficiency Pyruvate Dehydrogenase Phosphatase Deficiency PDP1 MONDO:0012120 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 congenital disorder of glycosylation, type ix congenital_disorder_of_glycosylation_type_ix Congenital Disorder of Glycosylation, Type Ix STT3B MONDO:0014271 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 MONDO:0008093 spinal muscular atrophy, distal, autosomal recessive, 2 spinal_muscular_atrophy_distal_autosomal_recessive_2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 SIGMAR1 MONDO:0011585 buschke-ollendorff syndrome buschke_ollendorff_syndrome Buschke-Ollendorff Syndrome LEMD3 MONDO:0008157 facial dysmorphism, immunodeficiency, livedo, and short stature facial_dysmorphism_immunodeficiency_livedo_and_short_stature Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature POLE MONDO:0014058 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 MONDO:0010094 cohen syndrome cohen_syndrome Cohen Syndrome VPS13B rapadilino syndrome rapadilino_syndrome Rapadilino Syndrome RECQL4 MONDO:0009955 analbuminemia analbuminemia Analbuminemia ALB dystonia 3, torsion, x-linked dystonia_3_torsion_x_linked Dystonia 3, Torsion, X-Linked TAF1 MONDO:0010747 spastic paraplegia 28, autosomal recessive spastic_paraplegia_28_autosomal_recessive Spastic Paraplegia 28, Autosomal Recessive DDHD1 MONDO:0012256 muir-torre syndrome muir_torre_syndrome Muir-Torre Syndrome MSH2 MONDO:0008018 5-oxoprolinase deficiency 5_oxoprolinase_deficiency 5-Oxoprolinase Deficiency OPLAH MONDO:0009825 marinesco-sjogren syndrome marinesco_sjogren_syndrome Marinesco-Sjogren Syndrome SIL1 MONDO:0009567 xeroderma pigmentosum, complementation group d xeroderma_pigmentosum_complementation_group_d Xeroderma Pigmentosum, Complementation Group D ERCC2 MONDO:0010212 genitopatellar syndrome genitopatellar_syndrome Genitopatellar Syndrome KAT6B MONDO:0011640 pancreatic lipase deficiency pancreatic_lipase_deficiency Pancreatic Lipase Deficiency PNLIP muir-torre syndrome muir_torre_syndrome Muir-Torre Syndrome MLH1 MONDO:0008018 hyperoxaluria, primary, type ii hyperoxaluria_primary_type_ii Hyperoxaluria, Primary, Type Ii GRHPR MONDO:0009824 ovarian cancer ovarian_cancer Ovarian Cancer OPCML MONDO:0008170 acatalasemia acatalasemia Acatalasemia CAT MONDO:0013571 adermatoglyphia adermatoglyphia Adermatoglyphia SMARCAD1 MONDO:0007619 phosphohydroxylysinuria phosphohydroxylysinuria Phosphohydroxylysinuria PHYKPL griscelli syndrome, type 1 griscelli_syndrome_type_1_2 Griscelli Syndrome, Type 1 MYO5A MONDO:0008962 pettigrew syndrome pettigrew_syndrome Pettigrew Syndrome AP1S2 MONDO:0010574 heinz body anemias heinz_body_anemias Heinz Body Anemias HBB witteveen-kolk syndrome witteveen_kolk_syndrome Witteveen-Kolk Syndrome SIN3A MONDO:0013256 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 MONDO:0007205 cerebrooculofacioskeletal syndrome 2 cerebrooculofacioskeletal_syndrome_2 Cerebrooculofacioskeletal Syndrome 2 ERCC2 MONDO:0012553 thrombocytopenia-absent radius syndrome thrombocytopenia_absent_radius_syndrome Thrombocytopenia-Absent Radius Syndrome RBM8A MONDO:0010121 epidermolysis bullosa, lethal acantholytic epidermolysis_bullosa_lethal_acantholytic Epidermolysis Bullosa, Lethal Acantholytic DSP tuberous sclerosis 2 tuberous_sclerosis_2 Tuberous Sclerosis 2 TSC2 MONDO:0013199 cylindromatosis, familial cylindromatosis_familial Cylindromatosis, Familial CYLD stargardt disease 1 stargardt_disease_1_2 Stargardt Disease 1 ABCA4 ovarian cancer ovarian_cancer Ovarian Cancer PIK3CA MONDO:0008170 familial cold autoinflammatory syndrome 3 familial_cold_autoinflammatory_syndrome_3 Familial Cold Autoinflammatory Syndrome 3 PLCG2 MONDO:0013766 malonyl-coa decarboxylase deficiency malonyl_coa_decarboxylase_deficiency Malonyl-Coa Decarboxylase Deficiency MLYCD pyruvate dehydrogenase e3-binding protein deficiency pyruvate_dehydrogenase_e3_binding_protein_deficiency Pyruvate Dehydrogenase E3-Binding Protein Deficiency PDHX MONDO:0009503 wiedemann-steiner syndrome wiedemann_steiner_syndrome Wiedemann-Steiner Syndrome KMT2A MONDO:0011518 pseudohypoparathyroidism, type ib pseudohypoparathyroidism_type_ib_2 Pseudohypoparathyroidism, Type Ib STX16 MONDO:0011301 transaldolase deficiency transaldolase_deficiency Transaldolase Deficiency TALDO1 MONDO:0011624 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 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 MONDO:0024542 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 seborrhea-like dermatitis with psoriasiform elements seborrhea_like_dermatitis_with_psoriasiform_elements Seborrhea-Like Dermatitis with Psoriasiform Elements ZNF750 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 MONDO:0014157 spondylo-megaepiphyseal-metaphyseal dysplasia spondylo_megaepiphyseal_metaphyseal_dysplasia Spondylo-Megaepiphyseal-Metaphyseal Dysplasia NKX3-2 pyruvate dehydrogenase e2 deficiency pyruvate_dehydrogenase_e2_deficiency Pyruvate Dehydrogenase E2 Deficiency DLAT MONDO:0009502 congenital cataracts, facial dysmorphism, and neuropathy congenital_cataracts_facial_dysmorphism_and_neuropathy Congenital Cataracts, Facial Dysmorphism, and Neuropathy CTDP1 MONDO:0011402 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 myotonic dystrophy 2 myotonic_dystrophy_2 Myotonic Dystrophy 2 CNBP MONDO:0011266 allan-herndon-dudley syndrome allan_herndon_dudley_syndrome Allan-Herndon-Dudley Syndrome SLC16A2 MONDO:0010354 dermatopathia pigmentosa reticularis dermatopathia_pigmentosa_reticularis Dermatopathia Pigmentosa Reticularis KRT14 wrinkly skin syndrome wrinkly_skin_syndrome Wrinkly Skin Syndrome ATP6V0A2 MONDO:0010208 colorectal cancer 12 colorectal_cancer_12 Colorectal Cancer 12 POLE MONDO:0014038 spondyloperipheral dysplasia spondyloperipheral_dysplasia Spondyloperipheral Dysplasia COL2A1 l-ferritin deficiency l_ferritin_deficiency L-Ferritin Deficiency FTL omodysplasia 1 omodysplasia_1 Omodysplasia 1 GPC6 amyotrophic lateral sclerosis 16, juvenile amyotrophic_lateral_sclerosis_16_juvenile Amyotrophic Lateral Sclerosis 16, Juvenile SIGMAR1 MONDO:0013715 terminal osseous dysplasia terminal_osseous_dysplasia Terminal Osseous Dysplasia FLNA tarp syndrome tarp_syndrome Tarp Syndrome RBM10 MONDO:0010711 spastic paraplegia 55, autosomal recessive spastic_paraplegia_55_autosomal_recessive Spastic Paraplegia 55, Autosomal Recessive C12orf65 MONDO:0014020 ficolin 3 deficiency ficolin_3_deficiency Ficolin 3 Deficiency FCN3 achondrogenesis, type ia achondrogenesis_type_ia_2 Achondrogenesis, Type Ia TRIP11 MONDO:0008701 cousin syndrome cousin_syndrome Cousin Syndrome TBX15 winchester syndrome winchester_syndrome Winchester Syndrome MMP14 hyperbiliverdinemia hyperbiliverdinemia Hyperbiliverdinemia BLVRA alazami syndrome alazami_syndrome Alazami Syndrome LARP7 MONDO:0014031 glycosylphosphatidylinositol deficiency glycosylphosphatidylinositol_deficiency Glycosylphosphatidylinositol Deficiency PIGM MONDO:0012465 deafness and myopia deafness_and_myopia Deafness and Myopia SLITRK6 pheochromocytoma pheochromocytoma Pheochromocytoma SDHB MONDO:0004974 glycogen storage disease ii glycogen_storage_disease_ii Glycogen Storage Disease Ii GAA MONDO:0009290 neuropathy, hereditary motor and sensory, russe type neuropathy_hereditary_motor_and_sensory_russe_type Neuropathy, Hereditary Motor and Sensory, Russe Type HK1 MONDO:0011534 xfe progeroid syndrome xfe_progeroid_syndrome Xfe Progeroid Syndrome ERCC4 MONDO:0012590 leukodystrophy, hypomyelinating, 3 leukodystrophy_hypomyelinating_3_2 Leukodystrophy, Hypomyelinating, 3 AIMP1 MONDO:0009843 niemann-pick disease, type c2 niemann_pick_disease_type_c2_2 Niemann-Pick Disease, Type C2 NPC2 MONDO:0011873 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial LDLR MONDO:0005439 xeroderma pigmentosum, complementation group a xeroderma_pigmentosum_complementation_group_a Xeroderma Pigmentosum, Complementation Group a XPA MONDO:0010210 xeroderma pigmentosum, complementation group f xeroderma_pigmentosum_complementation_group_f Xeroderma Pigmentosum, Complementation Group F ERCC4 MONDO:0010215 xeroderma pigmentosum, complementation group g xeroderma_pigmentosum_complementation_group_g Xeroderma Pigmentosum, Complementation Group G ERCC5 MONDO:0010216 oligodontia-colorectal cancer syndrome oligodontia_colorectal_cancer_syndrome Oligodontia-Colorectal Cancer Syndrome AXIN2 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 MONDO:0013878 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 MONDO:0008542 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 MONDO:0011740 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 MONDO:0010455 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 MONDO:0011740 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 MONDO:0011301 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 MONDO:0009299 wilson-turner x-linked mental retardation syndrome wilson_turner_x_linked_mental_retardation_syndrome Wilson-Turner X-Linked Mental Retardation Syndrome LAS1L MONDO:0010665 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 MONDO:0014667 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 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 MONDO:0010684 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 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 MONDO:0005034 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 MONDO:0015001 diamond-blackfan anemia 14 with mandibulofacial dysostosis diamond_blackfan_anemia_14_with_mandibulofacial_dysostosis Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis TSR2 MONDO:0010493 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 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 MONDO:0011169 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 MONDO:0011246 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 MONDO:0014104 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 MONDO:0014558 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 MONDO:0014986 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 MONDO:0010523 craniofacial anomalies and anterior segment dysgenesis syndrome craniofacial_anomalies_and_anterior_segment_dysgenesis_syndrome Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome VSX1 3-methylglutaconic aciduria, type v 3_methylglutaconic_aciduria_type_v_2 3-Methylglutaconic Aciduria, Type V DNAJC19 MONDO:0012435 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 MONDO:0014542 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 combined oxidative phosphorylation deficiency 7 combined_oxidative_phosphorylation_deficiency_7 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 MONDO:0013306 epileptic encephalopathy, early infantile, 35 epileptic_encephalopathy_early_infantile_35 Epileptic Encephalopathy, Early Infantile, 35 ITPA MONDO:0014719 peroxisome biogenesis disorder 10b peroxisome_biogenesis_disorder_10b Peroxisome Biogenesis Disorder 10b PEX3 MONDO:0054549 prostate cancer, hereditary, 2 prostate_cancer_hereditary_2 Prostate Cancer, Hereditary, 2 ELAC2 MONDO:0013872 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 MONDO:0044300 vascular malformation, primary intraosseous vascular_malformation_primary_intraosseous Vascular Malformation, Primary Intraosseous ELMO2 combined oxidative phosphorylation deficiency 22 combined_oxidative_phosphorylation_deficiency_22 Combined Oxidative Phosphorylation Deficiency 22 ATP5F1A MONDO:0020727 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 MONDO:0013840 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 MONDO:0014261 spinocerebellar ataxia, autosomal recessive 17 spinocerebellar_ataxia_autosomal_recessive_17 Spinocerebellar Ataxia, Autosomal Recessive 17 CWF19L1 MONDO:0014503 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 MONDO:0014496 epileptic encephalopathy, early infantile, 40 epileptic_encephalopathy_early_infantile_40 Epileptic Encephalopathy, Early Infantile, 40 GUF1 MONDO:0014895 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 MONDO:0014985 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 MONDO:0012251 parkinson disease 17 parkinson_disease_17 Parkinson Disease 17 VPS35 MONDO:0013625 spinocerebellar ataxia, autosomal recessive 24 spinocerebellar_ataxia_autosomal_recessive_24_2 Spinocerebellar Ataxia, Autosomal Recessive 24 UBA5 MONDO:0014934 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 MONDO:0008171 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 MONDO:0013743 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 MONDO:0019571 familial adenomatous polyposis 3 familial_adenomatous_polyposis_3 Familial Adenomatous Polyposis 3 NTHL1 MONDO:0014630 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 MONDO:0033046 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 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 MONDO:0014340 meier-gorlin syndrome 5 meier_gorlin_syndrome_5 Meier-Gorlin Syndrome 5 CDC6 MONDO:0013432 ichthyosis, spastic quadriplegia, and mental retardation ichthyosis_spastic_quadriplegia_and_mental_retardation Ichthyosis, Spastic Quadriplegia, and Mental Retardation ELOVL4 MONDO:0013760 kohlschutter-tonz syndrome kohlschutter_tonz_syndrome_2 Kohlschutter-Tonz Syndrome ROGDI MONDO:0009185 lethal congenital contracture syndrome 6 lethal_congenital_contracture_syndrome_6 Lethal Congenital Contracture Syndrome 6 ZBTB42 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 MONDO:0014402 myasthenic syndrome, congenital, 18 myasthenic_syndrome_congenital_18 Myasthenic Syndrome, Congenital, 18 SNAP25 MONDO:0014590 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYAB MONDO:0013411 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 combined oxidative phosphorylation deficiency 2 combined_oxidative_phosphorylation_deficiency_2 Combined Oxidative Phosphorylation Deficiency 2 MRPS16 MONDO:0012510 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 MONDO:0011365 pseudo-torch syndrome 2 pseudo_torch_syndrome_2 Pseudo-Torch Syndrome 2 USP18 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 MONDO:0012635 deafness, congenital, with onychodystrophy, autosomal dominant deafness_congenital_with_onychodystrophy_autosomal_dominant Deafness, Congenital, with Onychodystrophy, Autosomal Dominant ATP6V1B2 MONDO:0007420 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 alpha-fetoprotein deficiency alpha_fetoprotein_deficiency Alpha-Fetoprotein Deficiency AFP acrofacial dysostosis 1, nager type acrofacial_dysostosis_1_nager_type Acrofacial Dysostosis 1, Nager Type SF3B4 MONDO:0007943 deafness, autosomal dominant 70 deafness_autosomal_dominant_70 Deafness, Autosomal Dominant 70 MCM2 MONDO:0014853 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 MONDO:0014571 retinitis pigmentosa 59 retinitis_pigmentosa_59 Retinitis Pigmentosa 59 DHDDS MONDO:0013468 ovarian dysgenesis 4 ovarian_dysgenesis_4 Ovarian Dysgenesis 4 MCM9 microcephaly 18, primary, autosomal dominant microcephaly_18_primary_autosomal_dominant Microcephaly 18, Primary, Autosomal Dominant WDFY3 MONDO:0054593 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 MONDO:0008290 fragile x tremor/ataxia syndrome fragile_x_tremor_ataxia_syndrome Fragile X Tremor/ataxia Syndrome FMR1 fg syndrome 2 fg_syndrome_2 Fg Syndrome 2 FLNA hyperthyroxinemia, dystransthyretinemic hyperthyroxinemia_dystransthyretinemic Hyperthyroxinemia, Dystransthyretinemic TTR MONDO:0007785 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 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 narcolepsy 7 narcolepsy_7 Narcolepsy 7 MOG optic atrophy 11 optic_atrophy_11 Optic Atrophy 11 YME1L1 MONDO:0015011 lateral meningocele syndrome lateral_meningocele_syndrome Lateral Meningocele Syndrome NOTCH3 cataract 43 cataract_43 Cataract 43 UNC45B MONDO:0014565 capillary malformations, congenital capillary_malformations_congenital Capillary Malformations, Congenital GNAQ body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 UCP3 MONDO:0011122 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 immunodeficiency 24 immunodeficiency_24 Immunodeficiency 24 CTPS1 MONDO:0014391 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 MONDO:0010933 edict syndrome edict_syndrome Edict Syndrome MIR184 mismatch repair cancer syndrome mismatch_repair_cancer_syndrome Mismatch Repair Cancer Syndrome MSH6 MONDO:0010159 ivic syndrome ivic_syndrome Ivic Syndrome SALL4 aniridia 1 aniridia_1 Aniridia 1 PAX6 MONDO:0019172 breast cancer breast_cancer Breast Cancer BRIP1 MONDO:0004989 carnitine palmitoyltransferase ii deficiency, lethal neonatal carnitine_palmitoyltransferase_ii_deficiency_lethal_neonatal Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal CPT2 charcot-marie-tooth disease, recessive intermediate d charcot_marie_tooth_disease_recessive_intermediate_d Charcot-Marie-Tooth Disease, Recessive Intermediate D COX6A1 MONDO:0014467 carpal tunnel syndrome carpal_tunnel_syndrome Carpal Tunnel Syndrome TTR MONDO:0020730 cockayne syndrome b cockayne_syndrome_b Cockayne Syndrome B ERCC6 MONDO:0019570 pheochromocytoma pheochromocytoma Pheochromocytoma RET MONDO:0004974 phelan-mcdermid syndrome phelan_mcdermid_syndrome Phelan-Mcdermid Syndrome SHANK3 trichothiodystrophy 1, photosensitive trichothiodystrophy_1_photosensitive Trichothiodystrophy 1, Photosensitive ERCC2 MONDO:0002470 rhizomelic chondrodysplasia punctata, type 5 rhizomelic_chondrodysplasia_punctata_type_5_2 Rhizomelic Chondrodysplasia Punctata, Type 5 PEX5 MONDO:0014743 microcephaly, seizures, and developmental delay microcephaly_seizures_and_developmental_delay Microcephaly, Seizures, and Developmental Delay PNKP MONDO:0013254 ras-associated autoimmune leukoproliferative disorder ras_associated_autoimmune_leukoproliferative_disorder Ras-Associated Autoimmune Leukoproliferative Disorder KRAS MONDO:0013767 mismatch repair cancer syndrome mismatch_repair_cancer_syndrome Mismatch Repair Cancer Syndrome MSH2 MONDO:0010159 wolff-parkinson-white syndrome wolff_parkinson_white_syndrome Wolff-Parkinson-White Syndrome PRKAG2 MONDO:0008685 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NUBPL MONDO:0009640 citrullinemia, type ii, adult-onset citrullinemia_type_ii_adult_onset Citrullinemia, Type Ii, Adult-Onset SLC25A13 retinitis pigmentosa 33 retinitis_pigmentosa_33 Retinitis Pigmentosa 33 SNRNP200 MONDO:0012477 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 MONDO:0009388 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 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 MONDO:0011721 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 MONDO:0010211 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 MONDO:0014733 protoporphyria, erythropoietic, x-linked protoporphyria_erythropoietic_x_linked Protoporphyria, Erythropoietic, X-Linked ALAS2 MONDO:0010420 nephropathy with pretibial epidermolysis bullosa and deafness nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness Nephropathy with Pretibial Epidermolysis Bullosa and Deafness CD151 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 MONDO:0012559 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot GATA6 MONDO:0008542 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 MONDO:0013172 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 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 cholestasis, progressive familial intrahepatic, 4 cholestasis_progressive_familial_intrahepatic_4_2 Cholestasis, Progressive Familial Intrahepatic, 4 TJP2 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 MONDO:0009284 desmoid disease, hereditary desmoid_disease_hereditary Desmoid Disease, Hereditary APC 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 MONDO:0012096 neutropenia, nonimmune chronic idiopathic, of adults neutropenia_nonimmune_chronic_idiopathic_of_adults Neutropenia, Nonimmune Chronic Idiopathic, of Adults GFI1 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 MONDO:0012891 spastic ataxia 3, autosomal recessive spastic_ataxia_3_autosomal_recessive Spastic Ataxia 3, Autosomal Recessive MARS2 MONDO:0012664 dentin dysplasia, type i dentin_dysplasia_type_i Dentin Dysplasia, Type I SMOC2 MONDO:0007436 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 MONDO:0009706 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 MONDO:0014904 congenital disorder of glycosylation, type iif congenital_disorder_of_glycosylation_type_iif Congenital Disorder of Glycosylation, Type Iif SLC35A1 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 MONDO:0012786 immunodeficiency 35 immunodeficiency_35 Immunodeficiency 35 TYK2 nephrotic syndrome, type 13 nephrotic_syndrome_type_13_2 Nephrotic Syndrome, Type 13 NUP205 MONDO:0014818 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 citrullinemia, classic citrullinemia_classic Citrullinemia, Classic ASS1 MONDO:0015991 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 MONDO:0009640 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 deafness, autosomal recessive 3 deafness_autosomal_recessive_3 Deafness, Autosomal Recessive 3 MYO15A multiple acyl-coa dehydrogenase deficiency multiple_acyl_coa_dehydrogenase_deficiency Multiple Acyl-Coa Dehydrogenase Deficiency ETFDH MONDO:0009282 acromicric dysplasia acromicric_dysplasia Acromicric Dysplasia FBN1 baraitser-winter syndrome 1 baraitser_winter_syndrome_1 Baraitser-Winter Syndrome 1 ACTB aicardi-goutieres syndrome 1 aicardi_goutieres_syndrome_1 Aicardi-Goutieres Syndrome 1 TREX1 coumarin resistance coumarin_resistance Coumarin Resistance VKORC1 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency FOXRED1 MONDO:0009640 aicardi-goutieres syndrome 2 aicardi_goutieres_syndrome_2 Aicardi-Goutieres Syndrome 2 RNASEH2B MONDO:0012429 sick sinus syndrome 2 sick_sinus_syndrome_2 Sick Sinus Syndrome 2 HCN4 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFS4 MONDO:0009723 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 MONDO:0011612 spinal muscular atrophy, type iv spinal_muscular_atrophy_type_iv Spinal Muscular Atrophy, Type Iv SMN1 MONDO:0010056 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 MONDO:0009485 mucopolysaccharidosis type vi mucopolysaccharidosis_type_vi_maroteaux_lamy Mucopolysaccharidosis Type Vi ARSB MONDO:0009661 insulin-like growth factor i insulin_like_growth_factor_i Insulin-Like Growth Factor I IGF1R leopard syndrome 2 leopard_syndrome_2 Leopard Syndrome 2 RAF1 treacher collins syndrome 3 treacher_collins_syndrome_3 Treacher Collins Syndrome 3 POLR1C MONDO:0009558 gastric cancer gastric_cancer Gastric Cancer APC MONDO:0004950 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent NEUROD1 MONDO:0005148 leber congenital amaurosis 9 leber_congenital_amaurosis_9 Leber Congenital Amaurosis 9 NMNAT1 MONDO:0012056 pheochromocytoma pheochromocytoma Pheochromocytoma VHL MONDO:0004974 xeroderma pigmentosum, complementation group b xeroderma_pigmentosum_complementation_group_b Xeroderma Pigmentosum, Complementation Group B ERCC3 MONDO:0012531 long qt syndrome 15 long_qt_syndrome_15 Long Qt Syndrome 15 CALM2 MONDO:0014550 retinitis pigmentosa 2 retinitis_pigmentosa_2_2 Retinitis Pigmentosa 2 RP2 MONDO:0010723 elliptocytosis 2 elliptocytosis_2 Elliptocytosis 2 SPTA1 gastric cancer gastric_cancer Gastric Cancer CASP10 MONDO:0004950 cornelia de lange syndrome 1 cornelia_de_lange_syndrome_1 Cornelia De Lange Syndrome 1 NIPBL MONDO:0007387 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 MONDO:0007568 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 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 MONDO:0007453 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 MONDO:0009640 pelger-huet anomaly pelger_huet_anomaly Pelger-Huet Anomaly LBR MONDO:0008214 epileptic encephalopathy, early infantile, 42 epileptic_encephalopathy_early_infantile_42 Epileptic Encephalopathy, Early Infantile, 42 CACNA1A gastric cancer gastric_cancer Gastric Cancer MUTYH MONDO:0004950 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 MONDO:0008647 loeys-dietz syndrome 1 loeys_dietz_syndrome_1 Loeys-Dietz Syndrome 1 TGFBR1 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 MONDO:0013501 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 MONDO:0009759 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 MONDO:0009640 paragangliomas 5 paragangliomas_5 Paragangliomas 5 SDHA MONDO:0013602 retinitis pigmentosa 18 retinitis_pigmentosa_18 Retinitis Pigmentosa 18 PRPF3 MONDO:0011075 epileptic encephalopathy, childhood-onset epileptic_encephalopathy_childhood_onset Epileptic Encephalopathy, Childhood-Onset CHD2 MONDO:0014150 aortic aneurysm, familial thoracic 6 aortic_aneurysm_familial_thoracic_6 Aortic Aneurysm, Familial Thoracic 6 ACTA2 MONDO:0012730 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome SMAD4 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 MONDO:0013882 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 MONDO:0015003 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 MONDO:0014598 rett syndrome, congenital variant rett_syndrome_congenital_variant Rett Syndrome, Congenital Variant FOXG1 atelosteogenesis, type ii atelosteogenesis_type_ii Atelosteogenesis, Type Ii SLC26A2 MONDO:0009727 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 MONDO:0007681 mitochondrial dna depletion syndrome 4b mitochondrial_dna_depletion_syndrome_4b_mngie_type Mitochondrial Dna Depletion Syndrome 4b POLG MONDO:0013350 aicardi-goutieres syndrome 7 aicardi_goutieres_syndrome_7 Aicardi-Goutieres Syndrome 7 IFIH1 paragangliomas 4 paragangliomas_4 Paragangliomas 4 SDHB MONDO:0007273 46,xy sex reversal 3 46xy_sex_reversal_3_2 46,xy Sex Reversal 3 NR5A1 epileptic encephalopathy, early infantile, 33 epileptic_encephalopathy_early_infantile_33 Epileptic Encephalopathy, Early Infantile, 33 EEF1A2 MONDO:0014625 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 aicardi-goutieres syndrome 6 aicardi_goutieres_syndrome_6 Aicardi-Goutieres Syndrome 6 ADAR MONDO:0014007 myoclonic-atonic epilepsy myoclonic_atonic_epilepsy Myoclonic-Atonic Epilepsy SLC6A1 senior-loken syndrome 8 senior_loken_syndrome_8 Senior-Loken Syndrome 8 WDR19 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 MONDO:0014337 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 epileptic encephalopathy, early infantile, 19 epileptic_encephalopathy_early_infantile_19 Epileptic Encephalopathy, Early Infantile, 19 GABRA1 peroxisome biogenesis disorder 9b peroxisome_biogenesis_disorder_9b Peroxisome Biogenesis Disorder 9b PEX7 MONDO:0013945 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 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 neurodevelopmental disorder with involuntary movements neurodevelopmental_disorder_with_involuntary_movements Neurodevelopmental Disorder with Involuntary Movements GNAO1 MONDO:0060491 myopathy, myosin storage, autosomal recessive myopathy_myosin_storage_autosomal_recessive Myopathy, Myosin Storage, Autosomal Recessive MYH7 MONDO:0009708 zimmermann-laband syndrome 1 zimmermann_laband_syndrome_1 Zimmermann-Laband Syndrome 1 KCNH1 MONDO:0024526 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 loeys-dietz syndrome 4 loeys_dietz_syndrome_4 Loeys-Dietz Syndrome 4 TGFB2 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 geleophysic dysplasia 2 geleophysic_dysplasia_2 Geleophysic Dysplasia 2 FBN1 hypotonia, ataxia, and delayed development syndrome hypotonia_ataxia_and_delayed_development_syndrome Hypotonia, Ataxia, and Delayed Development Syndrome EBF3 hyperphosphatasia with mental retardation syndrome 1 hyperphosphatasia_with_mental_retardation_syndrome_1 Hyperphosphatasia with Mental Retardation Syndrome 1 PIGV MONDO:0009398 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 MONDO:0013624 thyroid dyshormonogenesis 6 thyroid_dyshormonogenesis_6 Thyroid Dyshormonogenesis 6 DUOX2 porokeratosis 3, multiple types porokeratosis_3_multiple_types Porokeratosis 3, Multiple Types MVK MONDO:0008293 long qt syndrome 14 long_qt_syndrome_14 Long Qt Syndrome 14 CALM1 MONDO:0014548 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations NKX2-6 MONDO:0016581 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, familial hypertrophic, 11 cardiomyopathy_familial_hypertrophic_11 Cardiomyopathy, Familial Hypertrophic, 11 ACTC1 MONDO:0012799 meier-gorlin syndrome 2 meier_gorlin_syndrome_2 Meier-Gorlin Syndrome 2 ORC4 MONDO:0013428 retinitis pigmentosa 76 retinitis_pigmentosa_76 Retinitis Pigmentosa 76 POMGNT1 nemaline myopathy 1 nemaline_myopathy_1 Nemaline Myopathy 1 TPM3 MONDO:0012239 combined oxidative phosphorylation deficiency 16 combined_oxidative_phosphorylation_deficiency_16 Combined Oxidative Phosphorylation Deficiency 16 MRPL44 MONDO:0014162 cardiomyopathy, familial hypertrophic, 10 cardiomyopathy_familial_hypertrophic_10 Cardiomyopathy, Familial Hypertrophic, 10 MYL2 MONDO:0012112 cowden syndrome 5 cowden_syndrome_5 Cowden Syndrome 5 PIK3CA auriculocondylar syndrome 2 auriculocondylar_syndrome_2 Auriculocondylar Syndrome 2 PLCB4 MONDO:0013845 seizures, benign familial infantile, 2 seizures_benign_familial_infantile_2 Seizures, Benign Familial Infantile, 2 PRRT2 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 MONDO:0014617 cardiofaciocutaneous syndrome 2 cardiofaciocutaneous_syndrome_2 Cardiofaciocutaneous Syndrome 2 KRAS MONDO:0014112 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 MONDO:0012111 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 MONDO:0009723 alazami-yuan syndrome alazami_yuan_syndrome Alazami-Yuan Syndrome TAF6 MONDO:0014931 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 MONDO:0014126 pontocerebellar hypoplasia, type 1b pontocerebellar_hypoplasia_type_1b Pontocerebellar Hypoplasia, Type 1b EXOSC3 MONDO:0013853 immunodeficiency, common variable, 2 immunodeficiency_common_variable_2 Immunodeficiency, Common Variable, 2 TNFRSF13B 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 MONDO:0009114 melanosis, neurocutaneous melanosis_neurocutaneous Melanosis, Neurocutaneous NRAS MONDO:0009578 cardiomyopathy, dilated, 1r cardiomyopathy_dilated_1r Cardiomyopathy, Dilated, 1r ACTC1 MONDO:0013261 moyamoya disease 5 moyamoya_disease_5 Moyamoya Disease 5 ACTA2 MONDO:0013542 immunoglobulin a deficiency 2 immunoglobulin_a_deficiency_2 Immunoglobulin a Deficiency 2 TNFRSF13B leopard syndrome 3 leopard_syndrome_3 Leopard Syndrome 3 BRAF myofibromatosis, infantile, 1 myofibromatosis_infantile_1 Myofibromatosis, Infantile, 1 PDGFRB 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 MONDO:0009282 dystonia, juvenile-onset dystonia_juvenile_onset Dystonia, Juvenile-Onset ACTB spinocerebellar ataxia, autosomal recessive 1 spinocerebellar_ataxia_autosomal_recessive_1_2 Spinocerebellar Ataxia, Autosomal Recessive 1 SETX MONDO:0018996 pontocerebellar hypoplasia, type 2a pontocerebellar_hypoplasia_type_2a_2 Pontocerebellar Hypoplasia, Type 2a TSEN54 MONDO:0010190 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid GATA2 MONDO:0018874 chondrocalcinosis 2 chondrocalcinosis_2 Chondrocalcinosis 2 ANKH aicardi-goutieres syndrome 3 aicardi_goutieres_syndrome_3 Aicardi-Goutieres Syndrome 3 RNASEH2C MONDO:0012471 fibrosis of extraocular muscles, congenital, 2 fibrosis_of_extraocular_muscles_congenital_2 Fibrosis of Extraocular Muscles, Congenital, 2 PHOX2A congenital disorder of glycosylation, type iii congenital_disorder_of_glycosylation_type_iii Congenital Disorder of Glycosylation, Type Iii COG5 MONDO:0013325 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 MONDO:0010333 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent MAPK8IP1 MONDO:0005148 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 MONDO:0012873 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 MONDO:0012853 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 MONDO:0012396 immunodeficiency 54 immunodeficiency_54 Immunodeficiency 54 MCM4 MONDO:0012383 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 MONDO:0014091 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 MONDO:0019941 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 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 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 MONDO:0013663 pheochromocytoma pheochromocytoma Pheochromocytoma SDHD MONDO:0004974 medullary cystic kidney disease 2 medullary_cystic_kidney_disease_2 Medullary Cystic Kidney Disease 2 UMOD parietal foramina 2 parietal_foramina_2 Parietal Foramina 2 ALX4 parietal foramina 1 parietal_foramina_1 Parietal Foramina 1 MSX2 intrinsic factor deficiency intrinsic_factor_deficiency Intrinsic Factor Deficiency GIF lujan-fryns syndrome lujan_fryns_syndrome_2 Lujan-Fryns Syndrome MED12 MONDO:0010655 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 MONDO:0007918 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 MONDO:0011480 dentinogenesis imperfecta 1 dentinogenesis_imperfecta_1 Dentinogenesis Imperfecta 1 DSPP jackson-weiss syndrome jackson_weiss_syndrome Jackson-Weiss Syndrome FGFR1 dystonia, dopa-responsive dystonia_dopa_responsive Dystonia, Dopa-Responsive GCH1 MONDO:0007495 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS1 MONDO:0009640 amyotrophic lateral sclerosis 8 amyotrophic_lateral_sclerosis_8 Amyotrophic Lateral Sclerosis 8 VAPB MONDO:0012077 c1q deficiency c1q_deficiency C1q Deficiency C1QC acrofacial dysostosis, cincinnati type acrofacial_dysostosis_cincinnati_type Acrofacial Dysostosis, Cincinnati Type POLR1A MONDO:0014651 retinitis pigmentosa 10 retinitis_pigmentosa_10_2 Retinitis Pigmentosa 10 IMPDH1 MONDO:0008379 myopia 6 myopia_6 Myopia 6 SCO2 MONDO:0012154 deafness, autosomal recessive 74 deafness_autosomal_recessive_74 Deafness, Autosomal Recessive 74 MSRB3 MONDO:0013386 c1q deficiency c1q_deficiency C1q Deficiency C1QB mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFAF4 MONDO:0009640 retinitis pigmentosa 11 retinitis_pigmentosa_11 Retinitis Pigmentosa 11 PRPF31 MONDO:0010828 hyperaldosteronism, familial, type iv hyperaldosteronism_familial_type_iv Hyperaldosteronism, Familial, Type Iv CACNA1H glycine encephalopathy glycine_encephalopathy Glycine Encephalopathy AMT MONDO:0011612 hyperglycinuria hyperglycinuria Hyperglycinuria SLC36A2 MONDO:0007677 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 MONDO:0009640 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent PPP1R3A MONDO:0005148 parkinson disease 6, autosomal recessive early-onset parkinson_disease_6_autosomal_recessive_early_onset Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 MONDO:0011613 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 MONDO:0014906 deafness, autosomal recessive 89 deafness_autosomal_recessive_89 Deafness, Autosomal Recessive 89 KARS MONDO:0013489 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFA10 MONDO:0009723 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 MONDO:0014359 pontocerebellar hypoplasia, type 2f pontocerebellar_hypoplasia_type_2f Pontocerebellar Hypoplasia, Type 2f TSEN15 MONDO:0014874 amyotrophy, hereditary neuralgic amyotrophy_hereditary_neuralgic Amyotrophy, Hereditary Neuralgic Sep-09 glaucoma 1, open angle, a glaucoma_1_open_angle_a Glaucoma 1, Open Angle, a MYOC glycogen storage disease ib glycogen_storage_disease_ib Glycogen Storage Disease Ib SLC37A4 acth-independent macronodular adrenal hyperplasia 2 acth_independent_macronodular_adrenal_hyperplasia_2 Acth-Independent Macronodular Adrenal Hyperplasia 2 ARMC5 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 renal tubular acidosis, distal, autosomal recessive renal_tubular_acidosis_distal_autosomal_recessive Renal Tubular Acidosis, Distal, Autosomal Recessive ATP6V0A4 MONDO:0011268 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 MONDO:0014556 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 MONDO:0010584 short-rib thoracic dysplasia 15 with polydactyly short_rib_thoracic_dysplasia_15_with_polydactyly Short-Rib Thoracic Dysplasia 15 with Polydactyly DYNC2LI1 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 MONDO:0014341 lactate dehydrogenase b deficiency lactate_dehydrogenase_b_deficiency_2 Lactate Dehydrogenase B Deficiency LDHB lymphedema-distichiasis syndrome lymphedema_distichiasis_syndrome Lymphedema-Distichiasis Syndrome FOXC2 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 MONDO:0014686 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 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 MONDO:0012472 deafness, autosomal recessive 9 deafness_autosomal_recessive_9 Deafness, Autosomal Recessive 9 OTOF MONDO:0010986 paragangliomas 1 paragangliomas_1 Paragangliomas 1 SDHD MONDO:0008192 anemia, sideroblastic, 2, pyridoxine-refractory anemia_sideroblastic_2_pyridoxine_refractory Anemia, Sideroblastic, 2, Pyridoxine-Refractory SLC25A38 MONDO:0008785 glucocorticoid deficiency 1 glucocorticoid_deficiency_1 Glucocorticoid Deficiency 1 MC2R diamond-blackfan anemia 10 diamond_blackfan_anemia_10 Diamond-Blackfan Anemia 10 RPS26 MONDO:0013217 scalp-ear-nipple syndrome scalp_ear_nipple_syndrome_2 Scalp-Ear-Nipple Syndrome KCTD1 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 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 spinocerebellar ataxia 19 spinocerebellar_ataxia_19 Spinocerebellar Ataxia 19 KCND3 carpenter syndrome 2 carpenter_syndrome_2 Carpenter Syndrome 2 MEGF8 psychomotor retardation, epilepsy, and craniofacial dysmorphism psychomotor_retardation_epilepsy_and_craniofacial_dysmorphism Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism SNIP1 abdominal obesity-metabolic syndrome 3 abdominal_obesity_metabolic_syndrome_3 Abdominal Obesity-Metabolic Syndrome 3 DYRK1B MONDO:0014352 bone marrow failure syndrome 3 bone_marrow_failure_syndrome_3 Bone Marrow Failure Syndrome 3 DNAJC21 MONDO:0014887 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 MONDO:0013163 focal segmental glomerulosclerosis 8 focal_segmental_glomerulosclerosis_8 Focal Segmental Glomerulosclerosis 8 ANLN MONDO:0014462 mental retardation, x-linked 12 mental_retardation_x_linked_12 Mental Retardation, X-Linked 12 THOC2 MONDO:0010496 hematuria, benign familial hematuria_benign_familial Hematuria, Benign Familial COL4A3 short qt syndrome 3 short_qt_syndrome_3 Short Qt Syndrome 3 KCNJ2 cataract 9, multiple types cataract_9_multiple_types Cataract 9, Multiple Types CRYAA MONDO:0011413 premature ovarian failure 9 premature_ovarian_failure_9 Premature Ovarian Failure 9 HFM1 microphthalmia, isolated 8 microphthalmia_isolated_8_2 Microphthalmia, Isolated 8 ALDH1A3 MONDO:0014050 thyroid dyshormonogenesis 1 thyroid_dyshormonogenesis_1 Thyroid Dyshormonogenesis 1 SLC5A5 deafness, autosomal recessive 12 deafness_autosomal_recessive_12 Deafness, Autosomal Recessive 12 CDH23 MONDO:0011067 atrial septal defect 3 atrial_septal_defect_3 Atrial Septal Defect 3 MYH6 MONDO:0013567 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 MONDO:0013589 meier-gorlin syndrome 3 meier_gorlin_syndrome_3 Meier-Gorlin Syndrome 3 ORC6 MONDO:0013430 premature ovarian failure 3 premature_ovarian_failure_3 Premature Ovarian Failure 3 FOXL2 microphthalmia, syndromic 2 microphthalmia_syndromic_2 Microphthalmia, Syndromic 2 BCOR uv-sensitive syndrome 3 uv_sensitive_syndrome_3 Uv-Sensitive Syndrome 3 UVSSA 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 MONDO:0008824 bardet-biedl syndrome 21 bardet_biedl_syndrome_21 Bardet-Biedl Syndrome 21 C8orf37 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive MPZ MONDO:0011527 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFAF5 MONDO:0009640 heparin cofactor ii deficiency heparin_cofactor_ii_deficiency Heparin Cofactor Ii Deficiency SERPIND1 hypophosphatemic rickets, x-linked recessive hypophosphatemic_rickets_x_linked_recessive Hypophosphatemic Rickets, X-Linked Recessive CLCN5 MONDO:0010358 fetal akinesia deformation sequence fetal_akinesia_deformation_sequence Fetal Akinesia Deformation Sequence MUSK MONDO:0008824 gastric cancer gastric_cancer Gastric Cancer IRF1 MONDO:0004950 nanophthalmos 4 nanophthalmos_4 Nanophthalmos 4 TMEM98 seckel syndrome 2 seckel_syndrome_2 Seckel Syndrome 2 RBBP8 MONDO:0011715 stargardt disease 4 stargardt_disease_4 Stargardt Disease 4 PROM1 leber congenital amaurosis 13 leber_congenital_amaurosis_13 Leber Congenital Amaurosis 13 RDH12 MONDO:0012990 hyperproinsulinemia hyperproinsulinemia Hyperproinsulinemia INS hyperparathyroidism 1 hyperparathyroidism_1 Hyperparathyroidism 1 CDC73 MONDO:0007767 retinitis pigmentosa 13 retinitis_pigmentosa_13 Retinitis Pigmentosa 13 PRPF8 MONDO:0010806 peho-like syndrome peho_like_syndrome Peho-Like Syndrome CCDC88A lung cancer lung_cancer Lung Cancer SLC22A18 MONDO:0005233 schizencephaly schizencephaly Schizencephaly SIX3 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFA1 MONDO:0009640 amyotrophic lateral sclerosis 11 amyotrophic_lateral_sclerosis_11 Amyotrophic Lateral Sclerosis 11 FIG4 MONDO:0012945 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 MONDO:0012744 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 MONDO:0008726 brown-vialetto-van laere syndrome 1 brown_vialetto_van_laere_syndrome_1 Brown-Vialetto-Van Laere Syndrome 1 SLC52A3 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 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 mitochondrial dna depletion syndrome 1 mitochondrial_dna_depletion_syndrome_1_mngie_type Mitochondrial Dna Depletion Syndrome 1 TYMP MONDO:0011283 histiocytosis-lymphadenopathy plus syndrome histiocytosis_lymphadenopathy_plus_syndrome Histiocytosis-Lymphadenopathy Plus Syndrome SLC29A3 fanconi anemia, complementation group q fanconi_anemia_complementation_group_q Fanconi Anemia, Complementation Group Q ERCC4 MONDO:0014108 granulomatous disease, chronic, x-linked granulomatous_disease_chronic_x_linked Granulomatous Disease, Chronic, X-Linked CYBB MONDO:0010600 epileptic encephalopathy, early infantile, 27 epileptic_encephalopathy_early_infantile_27 Epileptic Encephalopathy, Early Infantile, 27 GRIN2B 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 MONDO:0013310 epileptic encephalopathy, early infantile, 53 epileptic_encephalopathy_early_infantile_53 Epileptic Encephalopathy, Early Infantile, 53 SYNJ1 MONDO:0033362 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 MONDO:0010459 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 MONDO:0014612 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 MONDO:0014233 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 MONDO:0007794 epileptic encephalopathy, early infantile, 25 epileptic_encephalopathy_early_infantile_25 Epileptic Encephalopathy, Early Infantile, 25 SLC13A5 MONDO:0014392 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 MONDO:0024528 atrioventricular septal defect 4 atrioventricular_septal_defect_4 Atrioventricular Septal Defect 4 GATA4 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 MONDO:0014531 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 MONDO:0010555 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 MONDO:0014668 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 MONDO:0013722 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 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 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 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 MONDO:0009968 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 MONDO:0012238 spastic paraplegia 78, autosomal recessive spastic_paraplegia_78_autosomal_recessive Spastic Paraplegia 78, Autosomal Recessive ATP13A2 MONDO:0014975 tooth agenesis, selective, 4 tooth_agenesis_selective_4 Tooth Agenesis, Selective, 4 WNT10A epilepsy, early-onset, vitamin b6-dependent epilepsy_early_onset_vitamin_b6_dependent Epilepsy, Early-Onset, Vitamin B6-Dependent PLPBP MONDO:0015005 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 MONDO:0009723 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 MONDO:0013864 spondyloenchondrodysplasia with immune dysregulation spondyloenchondrodysplasia_with_immune_dysregulation Spondyloenchondrodysplasia with Immune Dysregulation ACP5 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 MONDO:0014960 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 MONDO:0010737 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 MONDO:0014051 dyschromatosis universalis hereditaria 3 dyschromatosis_universalis_hereditaria_3 Dyschromatosis Universalis Hereditaria 3 ABCB6 MONDO:0014169 epileptic encephalopathy, early infantile, 44 epileptic_encephalopathy_early_infantile_44 Epileptic Encephalopathy, Early Infantile, 44 UBA5 MONDO:0014933 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 megalencephaly_polymicrogyria_polydactyly_hydrocephalus_syndrome_2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 AKT3 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 MONDO:0013769 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 MONDO:0010438 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 MONDO:0014048 epilepsy, familial focal, with variable foci 2 epilepsy_familial_focal_with_variable_foci_2_2 Epilepsy, Familial Focal, with Variable Foci 2 NPRL2 MONDO:0020310 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 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 MONDO:0014171 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 MONDO:0013812 cutis laxa, autosomal dominant 3 cutis_laxa_autosomal_dominant_3 Cutis Laxa, Autosomal Dominant 3 ALDH18A1 MONDO:0014706 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 MONDO:0014628 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 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 MONDO:0007665 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 MONDO:0024567 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 MONDO:0011829 mental retardation, autosomal dominant 13 mental_retardation_autosomal_dominant_13 Mental Retardation, Autosomal Dominant 13 DYNC1H1 MONDO:0013805 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 osteopetrosis, autosomal recessive 4 osteopetrosis_autosomal_recessive_4_2 Osteopetrosis, Autosomal Recessive 4 CLCN7 MONDO:0012676 peroxisome biogenesis disorder 6b peroxisome_biogenesis_disorder_6b Peroxisome Biogenesis Disorder 6b PEX10 MONDO:0013937 hyperphosphatasia with mental retardation syndrome 4 hyperphosphatasia_with_mental_retardation_syndrome_4 Hyperphosphatasia with Mental Retardation Syndrome 4 PGAP3 MONDO:0014318 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 46,xx sex reversal 4 46xx_sex_reversal_4 46,xx Sex Reversal 4 NR5A1 mitochondrial complex iii deficiency, nuclear type 8 mitochondrial_complex_iii_deficiency_nuclear_type_8 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 LYRM7 MONDO:0014364 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 MONDO:0020737 periventricular nodular heterotopia 7 periventricular_nodular_heterotopia_7 Periventricular Nodular Heterotopia 7 NEDD4L MONDO:0014966 tremor, hereditary essential, 5 tremor_hereditary_essential_5 Tremor, Hereditary Essential, 5 TENM4 parkinson disease 23, autosomal recessive early-onset parkinson_disease_23_autosomal_recessive_early_onset_2 Parkinson Disease 23, Autosomal Recessive Early-Onset VPS13C MONDO:0014796 hennekam lymphangiectasia-lymphedema syndrome 1 hennekam_lymphangiectasia_lymphedema_syndrome_1 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 CCBE1 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 MONDO:0014088 dyskeratosis congenita, autosomal recessive 6 dyskeratosis_congenita_autosomal_recessive_6 Dyskeratosis Congenita, Autosomal Recessive 6 PARN MONDO:0014600 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 MONDO:0000208 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 MONDO:0033014 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 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 MONDO:0013345 ayme-gripp syndrome ayme_gripp_syndrome Ayme-Gripp Syndrome MAF premature ovarian failure 5 premature_ovarian_failure_5 Premature Ovarian Failure 5 NOBOX 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 MONDO:0015025 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 MONDO:0013930 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 MONDO:0014666 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 MONDO:0013927 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 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 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 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 MONDO:0014679 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 MONDO:0013520 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 erythrocytosis, familial, 3 erythrocytosis_familial_3 Erythrocytosis, Familial, 3 EGLN1 myasthenic syndrome, congenital, 14 myasthenic_syndrome_congenital_14 Myasthenic Syndrome, Congenital, 14 ALG2 MONDO:0014543 weill-marchesani syndrome 1 weill_marchesani_syndrome_1 Weill-Marchesani Syndrome 1 ADAMTS10 cortisone reductase deficiency 1 cortisone_reductase_deficiency_1 Cortisone Reductase Deficiency 1 H6PD MONDO:0011503 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 MONDO:0014078 cataract 33, multiple types cataract_33_multiple_types Cataract 33, Multiple Types BFSP1 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 meier-gorlin syndrome 4 meier_gorlin_syndrome_4 Meier-Gorlin Syndrome 4 CDT1 MONDO:0013431 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 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 MONDO:0010250 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 treacher collins syndrome 2 treacher_collins_syndrome_2 Treacher Collins Syndrome 2 POLR1D MONDO:0013385 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 cone-rod dystrophy 19 cone_rod_dystrophy_19 Cone-Rod Dystrophy 19 TTLL5 MONDO:0014372 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 migraine, familial hemiplegic, 3 migraine_familial_hemiplegic_3 Migraine, Familial Hemiplegic, 3 SCN1A peroxisome biogenesis disorder 8b peroxisome_biogenesis_disorder_8b Peroxisome Biogenesis Disorder 8b PEX16 MONDO:0013943 question mark ears, isolated question_mark_ears_isolated Question Mark Ears, Isolated EDN1 macular dystrophy, vitelliform, 4 macular_dystrophy_vitelliform_4 Macular Dystrophy, Vitelliform, 4 IMPG1 mitochondrial complex iii deficiency, nuclear type 6 mitochondrial_complex_iii_deficiency_nuclear_type_6 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 CYC1 MONDO:0014194 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 MONDO:0012518 neu-laxova syndrome 2 neu_laxova_syndrome_2 Neu-Laxova Syndrome 2 PSAT1 MONDO:0014466 retinal dystrophy with or without macular staphyloma retinal_dystrophy_with_or_without_macular_staphyloma Retinal Dystrophy with or Without Macular Staphyloma C21orf2 dyskeratosis congenita, autosomal recessive 1 dyskeratosis_congenita_autosomal_recessive_1 Dyskeratosis Congenita, Autosomal Recessive 1 NOP10 MONDO:0009136 muscular dystrophy, congenital, davignon-chauveau type muscular_dystrophy_congenital_davignon_chauveau_type Muscular Dystrophy, Congenital, Davignon-Chauveau Type TRIP4 MONDO:0014896 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 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 MONDO:0014323 deafness, x-linked 1 deafness_x_linked_1 Deafness, X-Linked 1 PRPS1 MONDO:0010577 diabetes mellitus, insulin-dependent, 2 diabetes_mellitus_insulin_dependent_2 Diabetes Mellitus, Insulin-Dependent, 2 INS cole-carpenter syndrome 2 cole_carpenter_syndrome_2 Cole-Carpenter Syndrome 2 SEC24D MONDO:0014573 leukoencephalopathy, progressive, with ovarian failure leukoencephalopathy_progressive_with_ovarian_failure Leukoencephalopathy, Progressive, with Ovarian Failure AARS2 MONDO:0014387 mental retardation, x-linked 104 mental_retardation_x_linked_104 Mental Retardation, X-Linked 104 FRMPD4 lethal congenital contracture syndrome 9 lethal_congenital_contracture_syndrome_9 Lethal Congenital Contracture Syndrome 9 ADGRG6 symphalangism, proximal, 1b symphalangism_proximal_1b Symphalangism, Proximal, 1b GDF5 diamond-blackfan anemia 13 diamond_blackfan_anemia_13 Diamond-Blackfan Anemia 13 RPS29 MONDO:0014394 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 MONDO:0013783 vesicoureteral reflux 2 vesicoureteral_reflux_2 Vesicoureteral Reflux 2 ROBO2 branchiootic syndrome 3 branchiootic_syndrome_3 Branchiootic Syndrome 3 SIX1 vesicoureteral reflux 8 vesicoureteral_reflux_8 Vesicoureteral Reflux 8 TNXB episodic pain syndrome, familial, 2 episodic_pain_syndrome_familial_2 Episodic Pain Syndrome, Familial, 2 SCN10A 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 MONDO:0013519 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 diamond-blackfan anemia 7 diamond_blackfan_anemia_7 Diamond-Blackfan Anemia 7 RPL11 MONDO:0012938 orofacial cleft 11 orofacial_cleft_11 Orofacial Cleft 11 BMP4 fleck retina, familial benign fleck_retina_familial_benign Fleck Retina, Familial Benign PLA2G5 peroxisome biogenesis disorder 11b peroxisome_biogenesis_disorder_11b Peroxisome Biogenesis Disorder 11b PEX13 MONDO:0013950 atrial fibrillation, familial, 3 atrial_fibrillation_familial_3 Atrial Fibrillation, Familial, 3 KCNQ1 cohen-gibson syndrome cohen_gibson_syndrome Cohen-Gibson Syndrome EED 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 MONDO:0012925 heterotaxy, visceral, 5, autosomal heterotaxy_visceral_5_autosomal Heterotaxy, Visceral, 5, Autosomal NODAL microphthalmia, isolated, with coloboma 10 microphthalmia_isolated_with_coloboma_10 Microphthalmia, Isolated, with Coloboma 10 RBP4 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 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 MONDO:0013895 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 MONDO:0009815 zinc deficiency, transient neonatal zinc_deficiency_transient_neonatal Zinc Deficiency, Transient Neonatal SLC30A2 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 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 ciliary dyskinesia, primary, 34 ciliary_dyskinesia_primary_34 Ciliary Dyskinesia, Primary, 34 DNAJB13 MONDO:0014909 hyperphosphatasia with mental retardation syndrome 6 hyperphosphatasia_with_mental_retardation_syndrome_6 Hyperphosphatasia with Mental Retardation Syndrome 6 PIGY MONDO:0014780 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 MONDO:0013454 ventricular septal defect 3 ventricular_septal_defect_3 Ventricular Septal Defect 3 NKX2-5 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 MONDO:0014781 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 lissencephaly 6 with microcephaly lissencephaly_6_with_microcephaly_2 Lissencephaly 6 with Microcephaly KATNB1 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 MONDO:0014646 alternating hemiplegia of childhood 1 alternating_hemiplegia_of_childhood_1 Alternating Hemiplegia of Childhood 1 ATP1A2 myasthenic syndrome, congenital, 13 myasthenic_syndrome_congenital_13 Myasthenic Syndrome, Congenital, 13 DPAGT1 MONDO:0013883 noonan syndrome 3 noonan_syndrome_3 Noonan Syndrome 3 KRAS MONDO:0012371 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 MONDO:0014648 cardiofaciocutaneous syndrome 4 cardiofaciocutaneous_syndrome_4 Cardiofaciocutaneous Syndrome 4 MAP2K2 MONDO:0014114 cole-carpenter syndrome 1 cole_carpenter_syndrome_1 Cole-Carpenter Syndrome 1 P4HB MONDO:0007204 agammaglobulinemia 6, autosomal recessive agammaglobulinemia_6_autosomal_recessive Agammaglobulinemia 6, Autosomal Recessive CD79B nemaline myopathy 7 nemaline_myopathy_7 Nemaline Myopathy 7 CFL2 MONDO:0012538 cardiomyopathy, familial hypertrophic, 6 cardiomyopathy_familial_hypertrophic_6_2 Cardiomyopathy, Familial Hypertrophic, 6 PRKAG2 MONDO:0010946 nephrotic syndrome, type 3 nephrotic_syndrome_type_3_2 Nephrotic Syndrome, Type 3 PLCE1 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 MONDO:0012613 cardiomyopathy, dilated, 1ee cardiomyopathy_dilated_1ee Cardiomyopathy, Dilated, 1ee MYH6 MONDO:0013198 myopathy, centronuclear, 5 myopathy_centronuclear_5 Myopathy, Centronuclear, 5 SPEG seizures, scoliosis, and macrocephaly syndrome seizures_scoliosis_and_macrocephaly_syndrome Seizures, Scoliosis, and Macrocephaly Syndrome EXT2 cardiofaciocutaneous syndrome 3 cardiofaciocutaneous_syndrome_3 Cardiofaciocutaneous Syndrome 3 MAP2K1 MONDO:0014113 peroxisome biogenesis disorder 10a peroxisome_biogenesis_disorder_10a Peroxisome Biogenesis Disorder 10a PEX3 MONDO:0013948 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 MONDO:0010915 tooth agenesis, selective, 1 tooth_agenesis_selective_1 Tooth Agenesis, Selective, 1 MSX1 atrial septal defect 9 atrial_septal_defect_9 Atrial Septal Defect 9 GATA6 MONDO:0013770 perrault syndrome 5 perrault_syndrome_5 Perrault Syndrome 5 TWNK 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 MONDO:0014580 deafness, autosomal dominant 40 deafness_autosomal_dominant_40 Deafness, Autosomal Dominant 40 CRYM MONDO:0014603 retinitis pigmentosa 70 retinitis_pigmentosa_70 Retinitis Pigmentosa 70 PRPF4 MONDO:0014400 nephrotic syndrome, type 10 nephrotic_syndrome_type_10 Nephrotic Syndrome, Type 10 EMP2 uv-sensitive syndrome 2 uv_sensitive_syndrome_2_2 Uv-Sensitive Syndrome 2 ERCC8 MONDO:0013829 cataract 31, multiple types cataract_31_multiple_types Cataract 31, Multiple Types CHMP4B MONDO:0011547 porencephaly 1 porencephaly_1 Porencephaly 1 COL4A1 myasthenic syndrome, congenital, 16 myasthenic_syndrome_congenital_16 Myasthenic Syndrome, Congenital, 16 SCN4A MONDO:0013620 bruck syndrome 2 bruck_syndrome_2 Bruck Syndrome 2 PLOD2 spermatogenic failure 3 spermatogenic_failure_3 Spermatogenic Failure 3 SLC26A8 MONDO:0011720 cardiomyopathy, familial hypertrophic, 14 cardiomyopathy_familial_hypertrophic_14 Cardiomyopathy, Familial Hypertrophic, 14 MYH6 MONDO:0013197 craniosynostosis 3 craniosynostosis_3 Craniosynostosis 3 TCF12 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 MONDO:0013528 multiple synostoses syndrome 3 multiple_synostoses_syndrome_3 Multiple Synostoses Syndrome 3 FGF9 trichothiodystrophy 3, photosensitive trichothiodystrophy_3_photosensitive Trichothiodystrophy 3, Photosensitive GTF2H5 MONDO:0014619 cowden syndrome 7 cowden_syndrome_7 Cowden Syndrome 7 SEC23B MONDO:0014802 hypercalcemia, infantile, 1 hypercalcemia_infantile_1 Hypercalcemia, Infantile, 1 CYP24A1 pachyonychia congenita 4 pachyonychia_congenita_4 Pachyonychia Congenita 4 KRT6B perrault syndrome 3 perrault_syndrome_3 Perrault Syndrome 3 CLPP trichothiodystrophy 2, photosensitive trichothiodystrophy_2_photosensitive Trichothiodystrophy 2, Photosensitive ERCC3 MONDO:0014615 woolly hair, autosomal dominant woolly_hair_autosomal_dominant Woolly Hair, Autosomal Dominant KRT74 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 MONDO:0014073 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 MONDO:0014886 retinitis pigmentosa 60 retinitis_pigmentosa_60 Retinitis Pigmentosa 60 PRPF6 MONDO:0013516 noonan syndrome 6 noonan_syndrome_6 Noonan Syndrome 6 NRAS MONDO:0013186 microcephaly 9, primary, autosomal recessive microcephaly_9_primary_autosomal_recessive Microcephaly 9, Primary, Autosomal Recessive CEP152 microcephaly 7, primary, autosomal recessive microcephaly_7_primary_autosomal_recessive Microcephaly 7, Primary, Autosomal Recessive STIL proteus syndrome proteus_syndrome Proteus Syndrome AKT1 MONDO:0008318 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 MONDO:0011437 cardiomyopathy, dilated, 1gg cardiomyopathy_dilated_1gg Cardiomyopathy, Dilated, 1gg SDHA MONDO:0013339 auriculocondylar syndrome 1 auriculocondylar_syndrome_1 Auriculocondylar Syndrome 1 GNAI3 MONDO:0011234 multiple acyl-coa dehydrogenase deficiency multiple_acyl_coa_dehydrogenase_deficiency Multiple Acyl-Coa Dehydrogenase Deficiency ETFB MONDO:0009282 pilomatrixoma pilomatrixoma Pilomatrixoma CTNNB1 MONDO:0007564 pulmonary hypertension, primary, 2 pulmonary_hypertension_primary_2 Pulmonary Hypertension, Primary, 2 SMAD9 retinitis pigmentosa 46 retinitis_pigmentosa_46_2 Retinitis Pigmentosa 46 IDH3B MONDO:0012943 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 MONDO:0016581 porencephaly 2 porencephaly_2 Porencephaly 2 COL4A2 trigonocephaly 2 trigonocephaly_2 Trigonocephaly 2 FREM1 trichohepatoenteric syndrome 2 trichohepatoenteric_syndrome_2 Trichohepatoenteric Syndrome 2 SKIV2L MONDO:0013818 craniosynostosis 1 craniosynostosis_1 Craniosynostosis 1 TWIST1 thrombocythemia 3 thrombocythemia_3 Thrombocythemia 3 JAK2 hypotrichosis 11 hypotrichosis_11 Hypotrichosis 11 SNRPE MONDO:0014027 craniosynostosis 6 craniosynostosis_6 Craniosynostosis 6 ZIC1 verheij syndrome verheij_syndrome Verheij Syndrome PUF60 hypotrichosis 12 hypotrichosis_12 Hypotrichosis 12 RPL21 MONDO:0014384 thrombocytopenia 4 thrombocytopenia_4 Thrombocytopenia 4 CYCS MONDO:0012775 ischiocoxopodopatellar syndrome ischiocoxopodopatellar_syndrome Ischiocoxopodopatellar Syndrome TBX4 paragangliomas 2 paragangliomas_2 Paragangliomas 2 SDHAF2 MONDO:0011121 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 MONDO:0013135 osteogenesis imperfecta, type ix osteogenesis_imperfecta_type_ix Osteogenesis Imperfecta, Type Ix PPIB MONDO:0009805 apolipoprotein c-iii deficiency apolipoprotein_c_iii_deficiency Apolipoprotein C-Iii Deficiency APOC3 cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e MYH7 MONDO:0012744 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 MONDO:0013699 colorectal cancer, hereditary nonpolyposis, type 5 colorectal_cancer_hereditary_nonpolyposis_type_5 Colorectal Cancer, Hereditary Nonpolyposis, Type 5 MSH6 MONDO:0013710 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 MONDO:0009364 muscular dystrophy-dystroglycanopathy , type a, 11 muscular_dystrophy_dystroglycanopathy_type_a_11 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 B3GALNT2 MONDO:0014071 muscular dystrophy-dystroglycanopathy , type a, 14 muscular_dystrophy_dystroglycanopathy_type_a_14 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 GMPPB MONDO:0014140 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 MONDO:0013154 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 MONDO:0013159 muscular dystrophy-dystroglycanopathy , type b, 14 muscular_dystrophy_dystroglycanopathy_type_b_14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 GMPPB MONDO:0014141 muscular dystrophy-dystroglycanopathy , type b, 2 muscular_dystrophy_dystroglycanopathy_congenital_with_mental_retardation_type_b_2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 POMT2 MONDO:0013160 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 MONDO:0011879 telangiectasia, hereditary hemorrhagic, type 2 telangiectasia_hereditary_hemorrhagic_type_2 Telangiectasia, Hereditary Hemorrhagic, Type 2 ACVRL1 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia ARHGAP26 MONDO:0011908 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 arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis_renal_dysfunction_and_cholestasis_1 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 VPS33B MONDO:0017123 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 MONDO:0010912 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 MONDO:0014517 fructosuria, essential fructosuria_essential Fructosuria, Essential KHK 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 MONDO:0014768 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 MONDO:0013307 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 MONDO:0010644 megalencephalic leukoencephalopathy with subcortical cysts 2a megalencephalic_leukoencephalopathy_with_subcortical_cysts_2a Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a HEPACAM 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 MONDO:0012890 cholestasis, intrahepatic, of pregnancy 3 cholestasis_intrahepatic_of_pregnancy_3_2 Cholestasis, Intrahepatic, of Pregnancy 3 ABCB4 MONDO:0013995 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 exudative vitreoretinopathy 5 exudative_vitreoretinopathy_5 Exudative Vitreoretinopathy 5 TSPAN12 nephrotic syndrome, type 9 nephrotic_syndrome_type_9 Nephrotic Syndrome, Type 9 COQ8B MONDO:0014257 premature ovarian failure 11 premature_ovarian_failure_11 Premature Ovarian Failure 11 ERCC6 MONDO:0014843 spherocytosis, type 4 spherocytosis_type_4 Spherocytosis, Type 4 SLC4A1 MONDO:0012981 hyperlipoproteinemia, type id hyperlipoproteinemia_type_id Hyperlipoproteinemia, Type Id GPIHBP1 hypothyroidism, congenital, nongoitrous, 6 hypothyroidism_congenital_nongoitrous_6 Hypothyroidism, Congenital, Nongoitrous, 6 THRA 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 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 MONDO:0014891 3-hydroxyacyl-coa dehydrogenase deficiency 3_hydroxyacyl_coa_dehydrogenase_deficiency 3-Hydroxyacyl-Coa Dehydrogenase Deficiency HADH nephrotic syndrome, type 12 nephrotic_syndrome_type_12_2 Nephrotic Syndrome, Type 12 NUP93 MONDO:0014817 hyperinsulinemic hypoglycemia, familial, 4 hyperinsulinemic_hypoglycemia_familial_4 Hyperinsulinemic Hypoglycemia, Familial, 4 HADH 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 mitochondrial complex iii deficiency, nuclear type 4 mitochondrial_complex_iii_deficiency_nuclear_type_4 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ MONDO:0014065 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 MONDO:0007067 nephrotic syndrome, type 11 nephrotic_syndrome_type_11_2 Nephrotic Syndrome, Type 11 NUP107 MONDO:0014752 pontocerebellar hypoplasia, type 1c pontocerebellar_hypoplasia_type_1c Pontocerebellar Hypoplasia, Type 1c EXOSC8 MONDO:0014485 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 MONDO:0009068 trichothiodystrophy 6, nonphotosensitive trichothiodystrophy_6_nonphotosensitive Trichothiodystrophy 6, Nonphotosensitive GTF2E2 MONDO:0014841 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 MONDO:0012554 focal cortical dysplasia, type ii focal_cortical_dysplasia_type_ii Focal Cortical Dysplasia, Type Ii TSC2 MONDO:0011818 nystagmus 6, congenital, x-linked nystagmus_6_congenital_x_linked Nystagmus 6, Congenital, X-Linked GPR143 epiphyseal dysplasia, multiple, 3 epiphyseal_dysplasia_multiple_3 Epiphyseal Dysplasia, Multiple, 3 COL9A3 striatonigral degeneration, infantile striatonigral_degeneration_infantile_2 Striatonigral Degeneration, Infantile NUP62 MONDO:0015518 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent HNF1B MONDO:0005148 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent PAX4 MONDO:0005148 hemophilia a hemophilia_a Hemophilia a F8 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent AKT2 MONDO:0005148 renal tubular dysgenesis renal_tubular_dysgenesis Renal Tubular Dysgenesis ACE thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 NRAS MONDO:0005034 spastic paralysis, infantile-onset ascending spastic_paralysis_infantile_onset_ascending_2 Spastic Paralysis, Infantile-Onset Ascending ALS2 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 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 au-kline syndrome au_kline_syndrome Au-Kline Syndrome HNRNPK MONDO:0014700 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid FLT3 MONDO:0018874 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 MONDO:0013768 arthrogryposis, distal, type 1a arthrogryposis_distal_type_1a Arthrogryposis, Distal, Type 1a TPM2 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 MONDO:0012808 cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e TPM1 MONDO:0012744 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 MONDO:0013968 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 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 MONDO:0009206 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 MONDO:0012071 lipodystrophy, congenital generalized, type 2 lipodystrophy_congenital_generalized_type_2 Lipodystrophy, Congenital Generalized, Type 2 BSCL2 MONDO:0010020 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 MONDO:0010306 methemoglobinemia due to deficiency of methemoglobin reductase methemoglobinemia_due_to_deficiency_of_methemoglobin_reductase Methemoglobinemia Due to Deficiency of Methemoglobin Reductase CYB5R3 MONDO:0009606 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COX8A MONDO:0009068 mitochondrial complex v deficiency, nuclear type 3 mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_3 Mitochondrial Complex V Deficiency, Nuclear Type 3 UQCRC2 MONDO:0014066 mitochondrial dna depletion syndrome 12a , autosomal dominant mitochondrial_dna_depletion_syndrome_12a_autosomal_dominant Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant SLC25A4 MONDO:0014959 mitochondrial dna depletion syndrome 12b , autosomal recessive mitochondrial_dna_depletion_syndrome_12b_autosomal_recessive Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive SLC25A4 MONDO:0014175 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 neuronopathy, distal hereditary motor, type iia neuronopathy_distal_hereditary_motor_type_iia Neuronopathy, Distal Hereditary Motor, Type Iia HSPB8 MONDO:0008025 neuronopathy, distal hereditary motor, type iib neuronopathy_distal_hereditary_motor_type_iib Neuronopathy, Distal Hereditary Motor, Type Iib HSPB1 MONDO:0012080 neuronopathy, distal hereditary motor, type iid neuronopathy_distal_hereditary_motor_type_iid Neuronopathy, Distal Hereditary Motor, Type Iid FBXO38 nevus, epidermal nevus_epidermal Nevus, Epidermal FGFR3 MONDO:0008093 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 MONDO:0011658 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 MONDO:0010916 pyropoikilocytosis, hereditary pyropoikilocytosis_hereditary_2 Pyropoikilocytosis, Hereditary SPTA1 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 MINPP1 MONDO:0005034 trichothiodystrophy 4, nonphotosensitive trichothiodystrophy_4_nonphotosensitive Trichothiodystrophy 4, Nonphotosensitive MPLKIP 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 MONDO:0008542 deafness, dystonia, and cerebral hypomyelination deafness_dystonia_and_cerebral_hypomyelination Deafness, Dystonia, and Cerebral Hypomyelination BCAP31 MONDO:0010334 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFB11 MONDO:0009640 pigmented paravenous chorioretinal atrophy pigmented_paravenous_chorioretinal_atrophy Pigmented Paravenous Chorioretinal Atrophy CRB1 anencephaly anencephaly Anencephaly TRIM36 MONDO:0000819 monocarboxylate transporter 1 deficiency monocarboxylate_transporter_1_deficiency Monocarboxylate Transporter 1 Deficiency SLC16A1 MONDO:0014490 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 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 MONDO:0014349 tumor predisposition syndrome tumor_predisposition_syndrome Tumor Predisposition Syndrome BAP1 MONDO:0015356 grange syndrome grange_syndrome Grange Syndrome YY1AP1 spondyloocular syndrome spondyloocular_syndrome Spondyloocular Syndrome XYLT2 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 MONDO:0012992 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 MONDO:0044319 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 MONDO:0009748 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 cerebellar atrophy, visual impairment, and psychomotor retardation cerebellar_atrophy_visual_impairment_and_psychomotor_retardation Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation EMC1 MONDO:0014811 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 MONDO:0009050 sudden cardiac failure, alcohol-induced sudden_cardiac_failure_alcohol_induced Sudden Cardiac Failure, Alcohol-Induced PPA2 MONDO:0014974 masp2 deficiency masp2_deficiency Masp2 Deficiency MASP2 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 MONDO:0060589 exercise intolerance, riboflavin-responsive exercise_intolerance_riboflavin_responsive Exercise Intolerance, Riboflavin-Responsive SLC25A32 MONDO:0014795 retinitis pigmentosa with or without skeletal anomalies retinitis_pigmentosa_with_or_without_skeletal_anomalies Retinitis Pigmentosa with or Without Skeletal Anomalies CWC27 MONDO:0009598 coenzyme q10 deficiency, primary, 8 coenzyme_q10_deficiency_primary_8 Coenzyme Q10 Deficiency, Primary, 8 COQ7 MONDO:0014754 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 mental retardation, autosomal recessive 52 mental_retardation_autosomal_recessive_52 Mental Retardation, Autosomal Recessive 52 LMAN2L MONDO:0014815 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 MONDO:0033115 deafness, autosomal dominant 71 deafness_autosomal_dominant_71 Deafness, Autosomal Dominant 71 DMXL2 MONDO:0033258 neurodevelopmental disorder with microcephaly, ataxia, and seizures neurodevelopmental_disorder_with_microcephaly_ataxia_and_seizures Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures SARS MONDO:0060577 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 MONDO:0014649 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 MONDO:0014784 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 dysfibrinogenemia, congenital dysfibrinogenemia_congenital Dysfibrinogenemia, Congenital FGB ck syndrome ck_syndrome Ck Syndrome NSDHL MONDO:0010441 trehalase deficiency trehalase_deficiency Trehalase Deficiency TREH MONDO:0012803 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 isolated growth hormone deficiency, type ia isolated_growth_hormone_deficiency_type_ia Isolated Growth Hormone Deficiency, Type Ia GH1 MONDO:0009876 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 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 MONDO:0014347 mental retardation, x-linked, syndromic, christianson type mental_retardation_x_linked_syndromic_christianson_type_2 Mental Retardation, X-Linked, Syndromic, Christianson Type SLC9A6 MONDO:0010278 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 MONDO:0013997 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 MONDO:0033015 geroderma osteodysplasticum geroderma_osteodysplasticum Geroderma Osteodysplasticum GORAB MONDO:0009271 autoimmune disease, multisystem, with facial dysmorphism autoimmune_disease_multisystem_with_facial_dysmorphism Autoimmune Disease, Multisystem, with Facial Dysmorphism ITCH peeling skin syndrome 1 peeling_skin_syndrome_1 Peeling Skin Syndrome 1 CDSN wagner vitreoretinopathy wagner_vitreoretinopathy Wagner Vitreoretinopathy VCAN spermatogenic failure 5 spermatogenic_failure_5 Spermatogenic Failure 5 AURKC MONDO:0009461 thyroid cancer, nonmedullary, 4 thyroid_cancer_nonmedullary_4 Thyroid Cancer, Nonmedullary, 4 FOXE1 immunodeficiency 55 immunodeficiency_55 Immunodeficiency 55 GINS1 MONDO:0044725 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 MONDO:0019569 myotonia congenita, autosomal recessive myotonia_congenita_autosomal_recessive_2 Myotonia Congenita, Autosomal Recessive CLCN1 esophageal cancer esophageal_cancer Esophageal Cancer TGFBR2 MONDO:0007576 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 MONDO:0008178 neutropenia, severe congenital, 1, autosomal dominant neutropenia_severe_congenital_1_autosomal_dominant_2 Neutropenia, Severe Congenital, 1, Autosomal Dominant ELANE MONDO:0008742 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 cornelia de lange syndrome 2 cornelia_de_lange_syndrome_2 Cornelia De Lange Syndrome 2 SMC1A MONDO:0010370 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 MONDO:0060490 galactose epimerase deficiency galactose_epimerase_deficiency Galactose Epimerase Deficiency GALE MONDO:0009257 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 MONDO:0060562 myopathy, congenital, with fiber-type disproportion myopathy_congenital_with_fiber_type_disproportion Myopathy, Congenital, with Fiber-Type Disproportion TPM3 MONDO:0009711 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 MONDO:0014199 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 MONDO:0014868 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 MONDO:0008953 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 MONDO:0012245 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 MONDO:0044724 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 MONDO:0005501 congenital disorder of glycosylation, type iig congenital_disorder_of_glycosylation_type_iig Congenital Disorder of Glycosylation, Type Iig COG1 MONDO:0012637 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 MONDO:0011421 mitochondrial complex v deficiency, nuclear type 3 mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_3 Mitochondrial Complex V Deficiency, Nuclear Type 3 ATP5F1E MONDO:0014066 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 MONDO:0008097 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 MONDO:0011444 carboxypeptidase n deficiency carboxypeptidase_n_deficiency Carboxypeptidase N Deficiency CPN1 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 MONDO:0002974 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 MONDO:0021573 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 MONDO:0008925 retinitis pigmentosa 77 retinitis_pigmentosa_77 Retinitis Pigmentosa 77 REEP6 MONDO:0015013 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency SCO1 MONDO:0009068 helix syndrome helix_syndrome Helix Syndrome CLDN10 deafness, autosomal dominant 17 deafness_autosomal_dominant_17 Deafness, Autosomal Dominant 17 MYH9 MONDO:0011350 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 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 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 MONDO:0060578 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 MONDO:0044302 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 MONDO:0011451 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 MONDO:0054588 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 MONDO:0014957 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 MONDO:0014911 skin creases, congenital symmetric circumferential, 2 skin_creases_congenital_symmetric_circumferential_2 Skin Creases, Congenital Symmetric Circumferential, 2 MAPRE2 MONDO:0014755 sifrim-hitz-weiss syndrome sifrim_hitz_weiss_syndrome Sifrim-Hitz-Weiss Syndrome CHD4 MONDO:0014946 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 MONDO:0015022 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis midface_hypoplasia_hearing_impairment_elliptocytosis_and_nephrocalcinosis Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis AMMECR1 MONDO:0010516 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 pulmonary hypertension, primary, 1 pulmonary_hypertension_primary_1 Pulmonary Hypertension, Primary, 1 BMPR2 MONDO:0024533 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 MONDO:0033007 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 MONDO:0054677 okur-chung neurodevelopmental syndrome okur_chung_neurodevelopmental_syndrome Okur-Chung Neurodevelopmental Syndrome CSNK2A1 MONDO:0014893 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 MONDO:0015026 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 MONDO:0020738 porokeratosis 7, multiple types porokeratosis_7_multiple_types Porokeratosis 7, Multiple Types MVD MONDO:0013868 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 MONDO:0060502 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 MONDO:0014984 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 MONDO:0014973 galloway-mowat syndrome 2, x-linked galloway_mowat_syndrome_2_x_linked Galloway-Mowat Syndrome 2, X-Linked LAGE3 MONDO:0033006 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 MONDO:0009959 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 MONDO:0014220 cerebral palsy, spastic quadriplegic, 3 cerebral_palsy_spastic_quadriplegic_3 Cerebral Palsy, Spastic Quadriplegic, 3 ADD3 MONDO:0014862 auditory neuropathy and optic atrophy auditory_neuropathy_and_optic_atrophy Auditory Neuropathy and Optic Atrophy FDXR MONDO:0060582 epileptic encephalopathy, early infantile, 56 epileptic_encephalopathy_early_infantile_56 Epileptic Encephalopathy, Early Infantile, 56 YWHAG MONDO:0033365 galloway-mowat syndrome 4 galloway_mowat_syndrome_4 Galloway-Mowat Syndrome 4 TP53RK MONDO:0033008 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 MONDO:0014961 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 MONDO:0009711 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 pilarowski-bjornsson syndrome pilarowski_bjornsson_syndrome Pilarowski-Bjornsson Syndrome CHD1 MONDO:0060568 mental retardation, autosomal recessive 60 mental_retardation_autosomal_recessive_60 Mental Retardation, Autosomal Recessive 60 TAF13 MONDO:0044313 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 MONDO:0008913 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 MONDO:0054561 brachycephaly, trichomegaly, and developmental delay brachycephaly_trichomegaly_and_developmental_delay Brachycephaly, Trichomegaly, and Developmental Delay RPS23 MONDO:0044311 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 MONDO:0014713 mental retardation, autosomal dominant 41 mental_retardation_autosomal_dominant_41 Mental Retardation, Autosomal Dominant 41 TBL1XR1 MONDO:0014842 diamond-blackfan anemia 6 diamond_blackfan_anemia_6 Diamond-Blackfan Anemia 6 RPL5 MONDO:0012937 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 MONDO:0033199 peroxisome biogenesis disorder 2b peroxisome_biogenesis_disorder_2b Peroxisome Biogenesis Disorder 2b PEX5 MONDO:0008736 galloway-mowat syndrome 5 galloway_mowat_syndrome_5 Galloway-Mowat Syndrome 5 TPRKB MONDO:0033009 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 MONDO:0009711 renal-hepatic-pancreatic dysplasia 1 renal_hepatic_pancreatic_dysplasia_1 Renal-Hepatic-Pancreatic Dysplasia 1 NPHP3 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 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 ataxia, sensory, 1, autosomal dominant ataxia_sensory_1_autosomal_dominant Ataxia, Sensory, 1, Autosomal Dominant RNF170 MONDO:0012166 congenital disorder of glycosylation, type il congenital_disorder_of_glycosylation_type_il Congenital Disorder of Glycosylation, Type Il ALG9 MONDO:0012117 lissencephaly 8 lissencephaly_8 Lissencephaly 8 TMTC3 fraser syndrome 2 fraser_syndrome_2 Fraser Syndrome 2 FREM2 branchiootic syndrome 1 branchiootic_syndrome_1 Branchiootic Syndrome 1 EYA1 fibrochondrogenesis 1 fibrochondrogenesis_1 Fibrochondrogenesis 1 COL11A1 colorectal cancer colorectal_cancer Colorectal Cancer PDGFRL MONDO:0005575 colorectal cancer, hereditary nonpolyposis, type 2 colorectal_cancer_hereditary_nonpolyposis_type_2 Colorectal Cancer, Hereditary Nonpolyposis, Type 2 MLH1 MONDO:0012249 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 cutis laxa, autosomal recessive, type iid cutis_laxa_autosomal_recessive_type_iid Cutis Laxa, Autosomal Recessive, Type Iid ATP6V1A MONDO:0027451 cutis laxa, autosomal recessive, type iic cutis_laxa_autosomal_recessive_type_iic Cutis Laxa, Autosomal Recessive, Type Iic ATP6V1E1 MONDO:0027462 parkinson disease 22, autosomal dominant parkinson_disease_22_autosomal_dominant Parkinson Disease 22, Autosomal Dominant CHCHD2 MONDO:0014742 neuronopathy, distal hereditary motor, type ix neuronopathy_distal_hereditary_motor_type_ix Neuronopathy, Distal Hereditary Motor, Type Ix WARS MONDO:0060585 cerebrooculofacioskeletal syndrome 1 cerebrooculofacioskeletal_syndrome_1 Cerebrooculofacioskeletal Syndrome 1 ERCC6 MONDO:0008955 tn polyagglutination syndrome tn_polyagglutination_syndrome Tn Polyagglutination Syndrome C1GALT1C1 trichorhinophalangeal syndrome, type iii trichorhinophalangeal_syndrome_type_iii Trichorhinophalangeal Syndrome, Type Iii TRPS1 mehmo syndrome mehmo_syndrome Mehmo Syndrome EIF2S3 MONDO:0010258 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome KCNQ1OT1 MONDO:0007534 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid JAK2 MONDO:0018874 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial CASP10 MONDO:0018908 lung cancer lung_cancer Lung Cancer EGFR MONDO:0005233 neurodegeneration, childhood-onset, with brain atrophy neurodegeneration_childhood_onset_with_brain_atrophy Neurodegeneration, Childhood-Onset, with Brain Atrophy UBTF MONDO:0044701 schimmelpenning-feuerstein-mims syndrome schimmelpenning_feuerstein_mims_syndrome Schimmelpenning-Feuerstein-Mims Syndrome HRAS MONDO:0008097 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome H19 MONDO:0007534 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 glycosylphosphatidylinositol biosynthesis defect 11 glycosylphosphatidylinositol_biosynthesis_defect_11 Glycosylphosphatidylinositol Biosynthesis Defect 11 PIGW MONDO:0014457 mental retardation, autosomal dominant 49 mental_retardation_autosomal_dominant_49 Mental Retardation, Autosomal Dominant 49 TRIP12 MONDO:0030914 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 MONDO:0015353 neuronopathy, distal hereditary motor, type va neuronopathy_distal_hereditary_motor_type_va Neuronopathy, Distal Hereditary Motor, Type Va BSCL2 MONDO:0015353 neuropathy, hereditary sensory and autonomic, type ia neuropathy_hereditary_sensory_and_autonomic_type_ia Neuropathy, Hereditary Sensory and Autonomic, Type Ia SPTLC1 MONDO:0008086 nystagmus 1, congenital, x-linked nystagmus_1_congenital_x_linked_2 Nystagmus 1, Congenital, X-Linked FRMD7 trichoepithelioma, multiple familial, 1 trichoepithelioma_multiple_familial_1 Trichoepithelioma, Multiple Familial, 1 CYLD retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CRX MONDO:0019200 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 MONDO:0012204 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 MONDO:0010949 neuropathy, ataxia, and retinitis pigmentosa neuropathy_ataxia_and_retinitis_pigmentosa Neuropathy, Ataxia, and Retinitis Pigmentosa MT-ATP6 MONDO:0010794 lung cancer lung_cancer Lung Cancer IRF1 MONDO:0005233 pseudohypoparathyroidism, type ib pseudohypoparathyroidism_type_ib_2 Pseudohypoparathyroidism, Type Ib GNAS-AS1 MONDO:0011301 breast cancer breast_cancer Breast Cancer CDH1 MONDO:0004989 breast cancer breast_cancer Breast Cancer ATM MONDO:0004989 butyrylcholinesterase deficiency butyrylcholinesterase_deficiency Butyrylcholinesterase Deficiency BCHE juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia CBL MONDO:0011908 lung cancer lung_cancer Lung Cancer KRAS MONDO:0005233 pancreatitis, hereditary pancreatitis_hereditary Pancreatitis, Hereditary CFTR colorectal cancer colorectal_cancer Colorectal Cancer TP53 MONDO:0005575 breast cancer breast_cancer Breast Cancer BARD1 MONDO:0004989 colorectal cancer colorectal_cancer Colorectal Cancer APC MONDO:0005575 breast cancer breast_cancer Breast Cancer TP53 MONDO:0004989 pancreatic cancer pancreatic_cancer Pancreatic Cancer SMAD4 MONDO:0005192 bladder cancer bladder_cancer Bladder Cancer HRAS MONDO:0004986 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia NRAS MONDO:0011908 breast-ovarian cancer, familial 2 breast_ovarian_cancer_familial_2_2 Breast-Ovarian Cancer, Familial 2 BRCA2 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset GBA MONDO:0005180 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 MONDO:0009723 breast-ovarian cancer, familial 4 breast_ovarian_cancer_familial_4 Breast-Ovarian Cancer, Familial 4 RAD51D MONDO:0013669 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND5 MONDO:0009723 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND3 MONDO:0009723 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 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia KRAS MONDO:0011908 autism 17 autism_17 Autism 17 SHANK2 autism 18 autism_18 Autism 18 CHD8 pancreatic cancer pancreatic_cancer Pancreatic Cancer TP53 MONDO:0005192 lung cancer lung_cancer Lung Cancer ERBB2 MONDO:0005233 colorectal cancer colorectal_cancer Colorectal Cancer AXIN2 MONDO:0005575 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 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 MONDO:0008458 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 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 medulloblastoma medulloblastoma Medulloblastoma SUFU MONDO:0007959 endometrial cancer endometrial_cancer Endometrial Cancer MSH6 MONDO:0002447 pancreatic cancer pancreatic_cancer Pancreatic Cancer KRAS MONDO:0005192 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 MONDO:0013967 cranioectodermal dysplasia 3 cranioectodermal_dysplasia_3 Cranioectodermal Dysplasia 3 IFT43 seckel syndrome 8 seckel_syndrome_8 Seckel Syndrome 8 DNA2 MONDO:0014350 glycine encephalopathy glycine_encephalopathy Glycine Encephalopathy GCSH MONDO:0011612 bladder cancer bladder_cancer Bladder Cancer RB1 MONDO:0004986 retinal dystrophy and obesity retinal_dystrophy_and_obesity Retinal Dystrophy and Obesity TUB lung cancer lung_cancer Lung Cancer PIK3CA MONDO:0005233 deafness, autosomal recessive 61 deafness_autosomal_recessive_61 Deafness, Autosomal Recessive 61 SLC26A5 MONDO:0013471 rhabdoid tumor predisposition syndrome 2 rhabdoid_tumor_predisposition_syndrome_2 Rhabdoid Tumor Predisposition Syndrome 2 SMARCA4 MONDO:0013224 adrenocortical carcinoma, hereditary adrenocortical_carcinoma_hereditary Adrenocortical Carcinoma, Hereditary TP53 MONDO:0006639 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 MONDO:0009807 inflammatory skin and bowel disease, neonatal, 1 inflammatory_skin_and_bowel_disease_neonatal_1 Inflammatory Skin and Bowel Disease, Neonatal, 1 ADAM17 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 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 MONDO:0013779 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 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 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 MONDO:0044310 diamond-blackfan anemia 16 diamond_blackfan_anemia_16 Diamond-Blackfan Anemia 16 RPL27 MONDO:0044309 diamond-blackfan anemia 11 diamond_blackfan_anemia_11 Diamond-Blackfan Anemia 11 RPL26 MONDO:0013964 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 MONDO:0009068 hermansky-pudlak syndrome 10 hermansky_pudlak_syndrome_10 Hermansky-Pudlak Syndrome 10 AP3D1 MONDO:0014885 renal hypodysplasia/aplasia 2 renal_hypodysplasia_aplasia_2 Renal Hypodysplasia/aplasia 2 FGF20 lissencephaly 7 with cerebellar hypoplasia lissencephaly_7_with_cerebellar_hypoplasia Lissencephaly 7 with Cerebellar Hypoplasia CDK5 MONDO:0014596 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency MT-CO2 MONDO:0009068 n-acetylaspartate deficiency n_acetylaspartate_deficiency N-Acetylaspartate Deficiency NAT8L pancreatic cancer 4 pancreatic_cancer_4 Pancreatic Cancer 4 BRCA1 orofacial cleft 15 orofacial_cleft_15 Orofacial Cleft 15 DLX4 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 MONDO:0024517 hydrolethalus syndrome 2 hydrolethalus_syndrome_2 Hydrolethalus Syndrome 2 KIF7 guillain-barre syndrome, familial guillain_barre_syndrome_familial Guillain-Barre Syndrome, Familial PMP22 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 MONDO:0010789 stroke, ischemic stroke_ischemic Stroke, Ischemic F2 MONDO:0002679 ehlers-danlos syndrome, classic type, 1 ehlers_danlos_syndrome_classic_type_1 Ehlers-Danlos Syndrome, Classic Type, 1 COL5A2 skin/hair/eye pigmentation, variation in, 1 skin_hair_eye_pigmentation_variation_in_1 Skin/hair/eye Pigmentation, Variation in, 1 OCA2 endometrial cancer endometrial_cancer Endometrial Cancer MSH3 MONDO:0002447 glioma susceptibility 3 glioma_susceptibility_3 Glioma Susceptibility 3 BRCA2 diamond-blackfan anemia 12 diamond_blackfan_anemia_12 Diamond-Blackfan Anemia 12 RPL15 MONDO:0014245 coronary artery disease, autosomal dominant, 1 coronary_artery_disease_autosomal_dominant_1 Coronary Artery Disease, Autosomal Dominant, 1 MEF2A MONDO:0012011 fanconi renotubular syndrome 2 fanconi_renotubular_syndrome_2 Fanconi Renotubular Syndrome 2 SLC34A1 premature ovarian failure 2a premature_ovarian_failure_2a Premature Ovarian Failure 2a DIAPH2 MONDO:0010350 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 MONDO:0014488 orofacial cleft 10 orofacial_cleft_10 Orofacial Cleft 10 SUMO1 MONDO:0013378 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 MONDO:0013063 trichothiodystrophy 5, nonphotosensitive trichothiodystrophy_5_nonphotosensitive Trichothiodystrophy 5, Nonphotosensitive RNF113A MONDO:0010495 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 MONDO:0008824 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 MONDO:0010789 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 MONDO:0010789 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent GCGR MONDO:0005148 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent SLC2A2 MONDO:0005148 microcephalic osteodysplastic primordial dwarfism, type ii microcephalic_osteodysplastic_primordial_dwarfism_type_ii Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii PCNT MONDO:0008872 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent GPD2 MONDO:0005148 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent KCNJ11 MONDO:0005148 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFB9 MONDO:0009640 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent WFS1 MONDO:0005148 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset GLUD2 MONDO:0005180 mass syndrome mass_syndrome Mass Syndrome FBN1 colorectal cancer colorectal_cancer Colorectal Cancer NRAS MONDO:0005575 medulloblastoma medulloblastoma Medulloblastoma BRCA2 MONDO:0007959 aplastic anemia aplastic_anemia Aplastic Anemia PRF1 MONDO:0015909 osteofibrous dysplasia osteofibrous_dysplasia Osteofibrous Dysplasia MET hawkinsinuria hawkinsinuria Hawkinsinuria HPD human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 KIR3DL1 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS4 MONDO:0009640 gastric cancer gastric_cancer Gastric Cancer PIK3CA MONDO:0004950 endometrial cancer endometrial_cancer Endometrial Cancer MLH3 MONDO:0002447 nemaline myopathy 2 nemaline_myopathy_2 Nemaline Myopathy 2 NEB MONDO:0009725 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFA11 MONDO:0009640 mental retardation, autosomal dominant 7 mental_retardation_autosomal_dominant_7 Mental Retardation, Autosomal Dominant 7 DYRK1A MONDO:0013578 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 MONDO:0010789 paragangliomas 3 paragangliomas_3 Paragangliomas 3 SDHC MONDO:0011544 renal-hepatic-pancreatic dysplasia 2 renal_hepatic_pancreatic_dysplasia_2 Renal-Hepatic-Pancreatic Dysplasia 2 NEK8 peroxisome biogenesis disorder 5a peroxisome_biogenesis_disorder_5a Peroxisome Biogenesis Disorder 5a PEX2 periodic fever, menstrual cycle-dependent periodic_fever_menstrual_cycle_dependent_2 Periodic Fever, Menstrual Cycle-Dependent HTR1A mental retardation, autosomal recessive 58 mental_retardation_autosomal_recessive_58 Mental Retardation, Autosomal Recessive 58 ELP2 MONDO:0014996 anterior segment dysgenesis 6 anterior_segment_dysgenesis_6 Anterior Segment Dysgenesis 6 CYP1B1 spinocerebellar ataxia 17 spinocerebellar_ataxia_17 Spinocerebellar Ataxia 17 TBP MONDO:0011781 barrett esophagus barrett_esophagus Barrett Esophagus ASCC1 MONDO:0013662 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFS7 MONDO:0009723 barrett esophagus barrett_esophagus Barrett Esophagus CTHRC1 MONDO:0013662 rothmund-thomson syndrome rothmund_thomson_syndrome Rothmund-Thomson Syndrome RECQL4 MONDO:0010002 feingold syndrome 2 feingold_syndrome_2 Feingold Syndrome 2 MIR17HG hemophagocytic lymphohistiocytosis, familial, 3 hemophagocytic_lymphohistiocytosis_familial_3 Hemophagocytic Lymphohistiocytosis, Familial, 3 UNC13D MONDO:0012146 colorectal cancer colorectal_cancer Colorectal Cancer DCC MONDO:0005575 iminoglycinuria iminoglycinuria Iminoglycinuria SLC6A19 MONDO:0009448 meningioma, familial meningioma_familial Meningioma, Familial PDGFB MONDO:0011789 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFA12 MONDO:0009723 spastic paraplegia, intellectual disability, nystagmus, and obesity spastic_paraplegia_intellectual_disability_nystagmus_and_obesity Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity KIDINS220 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 MONDO:0007817 neuronopathy, distal hereditary motor, type vb neuronopathy_distal_hereditary_motor_type_vb Neuronopathy, Distal Hereditary Motor, Type Vb REEP1 MONDO:0013884 stickler syndrome, type v stickler_syndrome_type_v Stickler Syndrome, Type V COL9A2 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 GPC3 MONDO:0019004 woodhouse-sakati syndrome woodhouse_sakati_syndrome_2 Woodhouse-Sakati Syndrome DCAF17 ewing sarcoma ewing_sarcoma Ewing Sarcoma EWSR1 MONDO:0005328 colorectal cancer colorectal_cancer Colorectal Cancer CTNNB1 MONDO:0005575 burn-mckeown syndrome burn_mckeown_syndrome Burn-Mckeown Syndrome TXNL4A MONDO:0012064 stargardt disease 3 stargardt_disease_3 Stargardt Disease 3 ELOVL4 MONDO:0010819 premature ovarian failure 1 premature_ovarian_failure_1 Premature Ovarian Failure 1 FMR1 MONDO:0005387 warburg micro syndrome 4 warburg_micro_syndrome_4 Warburg Micro Syndrome 4 TBC1D20 MONDO:0014296 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 BRCA2 MONDO:0019004 filippi syndrome filippi_syndrome Filippi Syndrome CKAP2L c1q deficiency c1q_deficiency C1q Deficiency C1QA auditory neuropathy, autosomal dominant, 1 auditory_neuropathy_autosomal_dominant_1 Auditory Neuropathy, Autosomal Dominant, 1 DIAPH3 MONDO:0012196 thrombocytopenia 2 thrombocytopenia_2 Thrombocytopenia 2 ANKRD26 MONDO:0008555 elliptocytosis 1 elliptocytosis_1_2 Elliptocytosis 1 EPB41 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFAF2 MONDO:0009640 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent GCK MONDO:0005148 kahrizi syndrome kahrizi_syndrome Kahrizi Syndrome SRD5A3 MONDO:0012991 mental retardation, autosomal dominant 20 mental_retardation_autosomal_dominant_20 Mental Retardation, Autosomal Dominant 20 MEF2C MONDO:0013266 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 MONDO:0011488 melanoma-astrocytoma syndrome melanoma_astrocytoma_syndrome_2 Melanoma-Astrocytoma Syndrome CDKN2A breast cancer breast_cancer Breast Cancer SLC22A18 MONDO:0004989 pilomatrixoma pilomatrixoma Pilomatrixoma MUTYH MONDO:0007564 breast cancer breast_cancer Breast Cancer TSG101 MONDO:0004989 glaucoma 1, open angle, f glaucoma_1_open_angle_f Glaucoma 1, Open Angle, F ASB10 pitt-hopkins-like syndrome 2 pitt_hopkins_like_syndrome_2 Pitt-Hopkins-Like Syndrome 2 NRXN1 barrett esophagus barrett_esophagus Barrett Esophagus MSR1 MONDO:0013662 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 MONDO:0054565 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 MONDO:0008974 diamond-blackfan anemia 4 diamond_blackfan_anemia_4 Diamond-Blackfan Anemia 4 RPS17 MONDO:0012924 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 fanconi anemia, complementation group p fanconi_anemia_complementation_group_p Fanconi Anemia, Complementation Group P SLX4 MONDO:0013499 seckel syndrome 1 seckel_syndrome_1 Seckel Syndrome 1 ATR MONDO:0008869 schizencephaly schizencephaly Schizencephaly EMX2 breast cancer breast_cancer Breast Cancer RB1CC1 MONDO:0004989 robinow-sorauf syndrome robinow_sorauf_syndrome_2 Robinow-Sorauf Syndrome TWIST1 abruzzo-erickson syndrome abruzzo_erickson_syndrome_2 Abruzzo-Erickson Syndrome TBX22 deafness, autosomal recessive 76 deafness_autosomal_recessive_76 Deafness, Autosomal Recessive 76 SYNE4 MONDO:0014237 lissencephaly 4 lissencephaly_4 Lissencephaly 4 NDE1 hepatic adenomas, familial hepatic_adenomas_familial Hepatic Adenomas, Familial HNF1A meningioma, familial meningioma_familial Meningioma, Familial NF2 MONDO:0011789 deafness, autosomal dominant 67 deafness_autosomal_dominant_67 Deafness, Autosomal Dominant 67 OSBPL2 MONDO:0014594 gastric cancer gastric_cancer Gastric Cancer FGFR2 MONDO:0004950 breast cancer breast_cancer Breast Cancer KRAS MONDO:0004989 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid DNMT3A MONDO:0018874 colorectal cancer colorectal_cancer Colorectal Cancer EP300 MONDO:0005575 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome GATA2 MONDO:0018881 bladder cancer bladder_cancer Bladder Cancer KRAS MONDO:0004986 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck TNFRSF10B MONDO:0010150 townes-brocks syndrome 1 townes_brocks_syndrome_1 Townes-Brocks Syndrome 1 SALL1 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFS3 MONDO:0009723 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 MONDO:0020310 cornelia de lange syndrome 3 cornelia_de_lange_syndrome_3 Cornelia De Lange Syndrome 3 SMC3 MONDO:0012555 hypoplastic left heart syndrome 1 hypoplastic_left_heart_syndrome_1 Hypoplastic Left Heart Syndrome 1 GJA1 mosaic variegated aneuploidy syndrome 2 mosaic_variegated_aneuploidy_syndrome_2 Mosaic Variegated Aneuploidy Syndrome 2 CEP57 MONDO:0013582 luscan-lumish syndrome luscan_lumish_syndrome Luscan-Lumish Syndrome SETD2 MONDO:0014791 atrial fibrillation, familial, 7 atrial_fibrillation_familial_7 Atrial Fibrillation, Familial, 7 KCNA5 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid KRAS MONDO:0018874 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration hypoprebetalipoproteinemia_acanthocytosis_retinitis_pigmentosa_and_pallidal_degeneration Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration PANK2 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 MONDO:0014045 mental retardation, autosomal recessive 42 mental_retardation_autosomal_recessive_42 Mental Retardation, Autosomal Recessive 42 PGAP1 MONDO:0014348 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 peroxisome biogenesis disorder 6a peroxisome_biogenesis_disorder_6a Peroxisome Biogenesis Disorder 6a PEX10 MONDO:0013936 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 MONDO:0011639 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 MONDO:0010217 epileptic encephalopathy, early infantile, 48 epileptic_encephalopathy_early_infantile_48 Epileptic Encephalopathy, Early Infantile, 48 AP3B2 MONDO:0015000 retinitis pigmentosa and erythrocytic microcytosis retinitis_pigmentosa_and_erythrocytic_microcytosis Retinitis Pigmentosa and Erythrocytic Microcytosis TRNT1 MONDO:0014850 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 myoglobinuria, acute recurrent, autosomal recessive myoglobinuria_acute_recurrent_autosomal_recessive Myoglobinuria, Acute Recurrent, Autosomal Recessive LPIN1 MONDO:0009992 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 gillessen-kaesbach-nishimura syndrome gillessen_kaesbach_nishimura_syndrome Gillessen-Kaesbach-Nishimura Syndrome ALG9 MONDO:0009890 immunodeficiency 51 immunodeficiency_51 Immunodeficiency 51 IL17RA peroxisome biogenesis disorder 4b peroxisome_biogenesis_disorder_4b Peroxisome Biogenesis Disorder 4b PEX6 MONDO:0013931 diamond-blackfan anemia 8 diamond_blackfan_anemia_8 Diamond-Blackfan Anemia 8 RPS7 MONDO:0012939 kabuki syndrome 2 kabuki_syndrome_2 Kabuki Syndrome 2 KDM6A MONDO:0010465 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 MONDO:0013949 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 MONDO:0014592 diamond-blackfan anemia 3 diamond_blackfan_anemia_3 Diamond-Blackfan Anemia 3 RPS24 MONDO:0012529 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 diamond-blackfan anemia 9 diamond_blackfan_anemia_9 Diamond-Blackfan Anemia 9 RPS10 MONDO:0013216 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 mental retardation, autosomal recessive 44 mental_retardation_autosomal_recessive_44 Mental Retardation, Autosomal Recessive 44 METTL23 MONDO:0014409 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 MONDO:0014321 peroxisome biogenesis disorder 13a peroxisome_biogenesis_disorder_13a Peroxisome Biogenesis Disorder 13a PEX14 MONDO:0013952 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 MONDO:0013942 mirror movements 2 mirror_movements_2 Mirror Movements 2 RAD51 MONDO:0013790 peeling skin syndrome 5 peeling_skin_syndrome_5 Peeling Skin Syndrome 5 SERPINB8 immunodeficiency 32b immunodeficiency_32b Immunodeficiency 32b IRF8 specific granule deficiency 2 specific_granule_deficiency_2 Specific Granule Deficiency 2 SMARCD2 MONDO:0044208 mental retardation, autosomal recessive 56 mental_retardation_autosomal_recessive_56 Mental Retardation, Autosomal Recessive 56 ZC3H14 MONDO:0014930 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 MONDO:0014099 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 spermatogenic failure 9 spermatogenic_failure_9 Spermatogenic Failure 9 DPY19L2 anemia, sideroblastic, 4 anemia_sideroblastic_4 Anemia, Sideroblastic, 4 HSPA9 MONDO:0008422 hemophagocytic lymphohistiocytosis, familial, 4 hemophagocytic_lymphohistiocytosis_familial_4 Hemophagocytic Lymphohistiocytosis, Familial, 4 STX11 MONDO:0011336 elliptocytosis 3 elliptocytosis_3 Elliptocytosis 3 SPTB 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 MONDO:0008954 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 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 retinal cone dystrophy 4 retinal_cone_dystrophy_4 Retinal Cone Dystrophy 4 CACNA2D4 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 MONDO:0009993 ichthyosis, congenital, autosomal recessive 12 ichthyosis_congenital_autosomal_recessive_12 Ichthyosis, Congenital, Autosomal Recessive 12 CASP14 premature ovarian failure 6 premature_ovarian_failure_6 Premature Ovarian Failure 6 FIGLA urofacial syndrome 2 urofacial_syndrome_2 Urofacial Syndrome 2 LRIG2 metaphyseal anadysplasia 2 metaphyseal_anadysplasia_2 Metaphyseal Anadysplasia 2 MMP9 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations NKX2-5 MONDO:0016581 hypereosinophilic syndrome, idiopathic hypereosinophilic_syndrome_idiopathic Hypereosinophilic Syndrome, Idiopathic PDGFRA glucocorticoid deficiency 2 glucocorticoid_deficiency_2 Glucocorticoid Deficiency 2 MRAP schwannomatosis 1 schwannomatosis_1_2 Schwannomatosis 1 NF2 MONDO:0024517 cfhr5 deficiency cfhr5_deficiency Cfhr5 Deficiency CFHR5 okt4 epitope deficiency okt4_epitope_deficiency Okt4 Epitope Deficiency CD4 thrombocytopenia 3 thrombocytopenia_3 Thrombocytopenia 3 FYB1 hyperglycinuria hyperglycinuria Hyperglycinuria SLC6A19 MONDO:0007677 pancreatic cancer pancreatic_cancer Pancreatic Cancer STK11 MONDO:0005192 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 MONDO:0010933 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome COX10 MONDO:0009723 coumarin resistance coumarin_resistance Coumarin Resistance CYP2C9 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot TBX1 MONDO:0008542 lung cancer lung_cancer Lung Cancer PPP2R1B MONDO:0005233 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFAF6 MONDO:0009723 colorectal cancer colorectal_cancer Colorectal Cancer FGFR3 MONDO:0005575 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 MONDO:0010933 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS3 MONDO:0009640 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome SF3B1 MONDO:0018881 arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain KRAS MONDO:0007154 gastric cancer gastric_cancer Gastric Cancer KLF6 MONDO:0004950 left ventricular noncompaction 1 left_ventricular_noncompaction_1 Left Ventricular Noncompaction 1 DTNA lipodystrophy, partial, acquired lipodystrophy_partial_acquired Lipodystrophy, Partial, Acquired LMNB2 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 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 MONDO:0013117 alpha-fetoprotein, hereditary persistence of alpha_fetoprotein_hereditary_persistence_of Alpha-Fetoprotein, Hereditary Persistence of AFP amelogenesis imperfecta, hypomaturation type, iia3 amelogenesis_imperfecta_hypomaturation_type_iia3 Amelogenesis Imperfecta, Hypomaturation Type, Iia3 WDR72 MONDO:0013181 meier-gorlin syndrome 7 meier_gorlin_syndrome_7 Meier-Gorlin Syndrome 7 CDC45 MONDO:0014894 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 MONDO:0008265 night blindness, congenital stationary, type 1h night_blindness_congenital_stationary_type_1h Night Blindness, Congenital Stationary, Type 1h GNB3 MONDO:0014872 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_1 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 HOXA11 cone-rod dystrophy 21 cone_rod_dystrophy_21 Cone-Rod Dystrophy 21 DRAM2 MONDO:0014669 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 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 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 pigmented nodular adrenocortical disease, primary, 1 pigmented_nodular_adrenocortical_disease_primary_1 Pigmented Nodular Adrenocortical Disease, Primary, 1 PRKAR1A 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 MONDO:0008333 congenital disorder of glycosylation, type iq congenital_disorder_of_glycosylation_type_iq Congenital Disorder of Glycosylation, Type Iq SRD5A3 MONDO:0012885 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 MONDO:0013951 epileptic encephalopathy, early infantile, 12 epileptic_encephalopathy_early_infantile_12 Epileptic Encephalopathy, Early Infantile, 12 PLCB1 MONDO:0013389 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 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 mitochondrial complex iii deficiency, nuclear type 3 mitochondrial_complex_iii_deficiency_nuclear_type_3 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 UQCRB MONDO:0014064 ichthyosis, congenital, autosomal recessive 9 ichthyosis_congenital_autosomal_recessive_9 Ichthyosis, Congenital, Autosomal Recessive 9 CERS3 MONDO:0014010 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 MONDO:0044207 microcephaly 8, primary, autosomal recessive microcephaly_8_primary_autosomal_recessive Microcephaly 8, Primary, Autosomal Recessive CEP135 ovarian cancer ovarian_cancer Ovarian Cancer PRKN MONDO:0008170 panhypopituitarism, x-linked panhypopituitarism_x_linked_2 Panhypopituitarism, X-Linked SOX3 pulmonary hypertension, primary, 3 pulmonary_hypertension_primary_3 Pulmonary Hypertension, Primary, 3 CAV1 hypospadias 1, x-linked hypospadias_1_x_linked Hypospadias 1, X-Linked AR surfactant metabolism dysfunction, pulmonary, 5 surfactant_metabolism_dysfunction_pulmonary_5 Surfactant Metabolism Dysfunction, Pulmonary, 5 CSF2RB jawad syndrome jawad_syndrome Jawad Syndrome RBBP8 MONDO:0009622 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 MONDO:0060640 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 immunodeficiency, common variable, 5 immunodeficiency_common_variable_5 Immunodeficiency, Common Variable, 5 MS4A1 ovarian dysgenesis 3 ovarian_dysgenesis_3 Ovarian Dysgenesis 3 PSMC3IP MONDO:0013689 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 MONDO:0005148 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 glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 ERBB2 MONDO:0024498 cerebrooculofacioskeletal syndrome 3 cerebrooculofacioskeletal_syndrome_3 Cerebrooculofacioskeletal Syndrome 3 ERCC5 MONDO:0014696 breast cancer breast_cancer Breast Cancer BRCA1 MONDO:0004989 pseudoxanthoma elasticum pseudoxanthoma_elasticum Pseudoxanthoma Elasticum XYLT2 MONDO:0009925 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency TMEM126B MONDO:0009640 colorectal cancer colorectal_cancer Colorectal Cancer FLCN MONDO:0005575 atrioventricular septal defect 2 atrioventricular_septal_defect_2 Atrioventricular Septal Defect 2 CRELD1 moyamoya disease 2 moyamoya_disease_2 Moyamoya Disease 2 RNF213 autoimmune disease 6 autoimmune_disease_6 Autoimmune Disease 6 SIAE hypertension, essential hypertension_essential Hypertension, Essential PTGIS MONDO:0001134 pseudoxanthoma elasticum pseudoxanthoma_elasticum Pseudoxanthoma Elasticum XYLT1 MONDO:0009925 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFA2 MONDO:0009723 schizophrenia 4 schizophrenia_4 Schizophrenia 4 PRODH MONDO:0010943 hirschsprung disease 2 hirschsprung_disease_2 Hirschsprung Disease 2 EDNRB multiple system atrophy 1 multiple_system_atrophy_1 Multiple System Atrophy 1 COQ2 MONDO:0007803 anhaptoglobinemia anhaptoglobinemia Anhaptoglobinemia HP alveolar soft part sarcoma alveolar_soft_part_sarcoma Alveolar Soft Part Sarcoma ASPSCR1 MONDO:0011655 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome BCS1L MONDO:0009723 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency TIMMDC1 MONDO:0009640 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 NR0B2 MONDO:0011122 colorectal cancer colorectal_cancer Colorectal Cancer DLC1 MONDO:0005575 endometrial cancer endometrial_cancer Endometrial Cancer PTEN MONDO:0002447 schizophrenia schizophrenia Schizophrenia RTN4R MONDO:0005090 colorectal cancer 10 colorectal_cancer_10 Colorectal Cancer 10 POLD1 MONDO:0012953 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 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 MONDO:0014368 paraganglioma and gastric stromal sarcoma paraganglioma_and_gastric_stromal_sarcoma Paraganglioma and Gastric Stromal Sarcoma SDHC MONDO:0011740 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 MONDO:0013568 psoriasis 15, pustular psoriasis_15_pustular Psoriasis 15, Pustular AP1S3 MONDO:0014494 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 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 MONDO:0010449 ovalocytosis, southeast asian ovalocytosis_southeast_asian Ovalocytosis, Southeast Asian SLC4A1 MONDO:0008165 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 MONDO:0013510 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 autism x-linked 1 autism_x_linked_1 Autism X-Linked 1 NLGN3 myopathy, centronuclear, 1 myopathy_centronuclear_1 Myopathy, Centronuclear, 1 MTMR14 MONDO:0008048 yao syndrome yao_syndrome Yao Syndrome NOD2 hirschsprung disease 4 hirschsprung_disease_4 Hirschsprung Disease 4 EDN3 craniosynostosis 5 craniosynostosis_5 Craniosynostosis 5 ALX4 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 colorectal cancer, hereditary nonpolyposis, type 8 colorectal_cancer_hereditary_nonpolyposis_type_8 Colorectal Cancer, Hereditary Nonpolyposis, Type 8 EPCAM epiphyseal dysplasia, multiple, 2 epiphyseal_dysplasia_multiple_2 Epiphyseal Dysplasia, Multiple, 2 COL9A2 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 mental retardation, fra12a type mental_retardation_fra12a_type Mental Retardation, Fra12a Type DIP2B MONDO:0007634 methemoglobinemia and ambiguous genitalia methemoglobinemia_and_ambiguous_genitalia Methemoglobinemia and Ambiguous Genitalia CYB5A MONDO:0009605 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 periventricular heterotopia with microcephaly, autosomal recessive periventricular_heterotopia_with_microcephaly_autosomal_recessive Periventricular Heterotopia with Microcephaly, Autosomal Recessive ARFGEF2 MONDO:0011966 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 MONDO:0014860 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 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 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 MONDO:0011996 ovarian cancer ovarian_cancer Ovarian Cancer CTNNB1 MONDO:0008170 spinocerebellar ataxia, x-linked 1 spinocerebellar_ataxia_x_linked_1 Spinocerebellar Ataxia, X-Linked 1 ATP2B3 MONDO:0010547 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor SDHB MONDO:0011719 breast cancer breast_cancer Breast Cancer AKT1 MONDO:0004989 hyperthyroxinemia, familial dysalbuminemic hyperthyroxinemia_familial_dysalbuminemic Hyperthyroxinemia, Familial Dysalbuminemic ALB gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor SDHC MONDO:0011719 medulloblastoma medulloblastoma Medulloblastoma CTNNB1 MONDO:0007959 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia NUMA1 MONDO:0012883 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 MONDO:0011120 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 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 MONDO:0014807 mitochondrial dna depletion syndrome 15 mitochondrial_dna_depletion_syndrome_15 Mitochondrial Dna Depletion Syndrome 15 TFAM 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 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 MONDO:0012610 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 premature ovarian failure 12 premature_ovarian_failure_12 Premature Ovarian Failure 12 SYCE1 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 MONDO:0054725 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 sotos syndrome 3 sotos_syndrome_3 Sotos Syndrome 3 APC2 shaheen syndrome shaheen_syndrome Shaheen Syndrome COG6 MONDO:0014131 cerebellar atrophy, developmental delay, and seizures cerebellar_atrophy_developmental_delay_and_seizures Cerebellar Atrophy, Developmental Delay, and Seizures KCNMA1 MONDO:0060551 liebenberg syndrome liebenberg_syndrome Liebenberg Syndrome PITX1 psoriasis 13 psoriasis_13 Psoriasis 13 TRAF3IP2 immunodeficiency 53 immunodeficiency_53 Immunodeficiency 53 RELB immunodeficiency 45 immunodeficiency_45 Immunodeficiency 45 IFNAR2 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 MONDO:0011896 parkinson disease 13, autosomal dominant parkinson_disease_13_autosomal_dominant Parkinson Disease 13, Autosomal Dominant HTRA2 MONDO:0012466 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 MONDO:0015277 watson syndrome watson_syndrome Watson Syndrome NF1 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot ZFPM2 MONDO:0008542 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent HNF4A MONDO:0005148 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 MONDO:0013472 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 MONDO:0044325 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 MONDO:0014744 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 MONDO:0013092 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 orofaciodigital syndrome xv orofaciodigital_syndrome_xv Orofaciodigital Syndrome Xv KIAA0753 polydactyly, postaxial, type a7 polydactyly_postaxial_type_a7 Polydactyly, Postaxial, Type A7 IQCE spermatogenic failure 20 spermatogenic_failure_20 Spermatogenic Failure 20 CFAP44 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 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFS8 MONDO:0009723 esophageal cancer esophageal_cancer Esophageal Cancer WWOX MONDO:0007576 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome SDHA MONDO:0009723 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita DKC1 MONDO:0015780 colorectal cancer colorectal_cancer Colorectal Cancer MLH3 MONDO:0005575 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 HRAS MONDO:0005034 colorectal cancer colorectal_cancer Colorectal Cancer BAX MONDO:0005575 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary RNF139 MONDO:0005086 ventricular tachycardia, catecholaminergic polymorphic, 4 ventricular_tachycardia_catecholaminergic_polymorphic_4 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 CALM1 MONDO:0013966 colorectal cancer colorectal_cancer Colorectal Cancer MCC MONDO:0005575 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 spermatogenic failure 10 spermatogenic_failure_10 Spermatogenic Failure 10 Sep-12 rahman syndrome rahman_syndrome Rahman Syndrome HIST1H1E renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary FLCN MONDO:0005086 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid KIT MONDO:0018874 albinism, ocular, with sensorineural deafness albinism_ocular_with_sensorineural_deafness Albinism, Ocular, with Sensorineural Deafness MITF 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 MONDO:0049222 microcephaly 19, primary, autosomal recessive microcephaly_19_primary_autosomal_recessive Microcephaly 19, Primary, Autosomal Recessive COPB2 MONDO:0054716 microcephaly 21, primary, autosomal recessive microcephaly_21_primary_autosomal_recessive Microcephaly 21, Primary, Autosomal Recessive NCAPD2 MONDO:0054804 microcephaly 23, primary, autosomal recessive microcephaly_23_primary_autosomal_recessive Microcephaly 23, Primary, Autosomal Recessive NCAPH MONDO:0054806 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency FASTKD2 MONDO:0009068 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COA7 MONDO:0009068 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 neuronopathy, distal hereditary motor, type iic neuronopathy_distal_hereditary_motor_type_iic Neuronopathy, Distal Hereditary Motor, Type Iic HSPB3 MONDO:0013243 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 MONDO:0010456 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 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease POMGNT1 MONDO:0018939 pentosuria pentosuria Pentosuria DCXR MONDO:0009846 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 MONDO:0011568 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 MONDO:0020713 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 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 MONDO:0008559 autoinflammation with arthritis and dyskeratosis autoinflammation_with_arthritis_and_dyskeratosis Autoinflammation with Arthritis and Dyskeratosis NLRP1 thyroid dyshormonogenesis 5 thyroid_dyshormonogenesis_5 Thyroid Dyshormonogenesis 5 DUOXA2 frontometaphyseal dysplasia frontometaphyseal_dysplasia Frontometaphyseal Dysplasia FLNA microcephaly-micromelia syndrome microcephaly_micromelia_syndrome Microcephaly-Micromelia Syndrome DONSON sedoheptulokinase deficiency sedoheptulokinase_deficiency Sedoheptulokinase Deficiency SHPK basan syndrome basan_syndrome Basan Syndrome SMARCAD1 MONDO:0007507 chitayat syndrome chitayat_syndrome Chitayat Syndrome ERF rhabdomyosarcoma, embryonal, 1 rhabdomyosarcoma_embryonal_1 Rhabdomyosarcoma, Embryonal, 1 SLC22A18 esophageal cancer esophageal_cancer Esophageal Cancer RNF6 MONDO:0007576 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 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 MONDO:0014948 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 MONDO:0060583 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary VHL MONDO:0005086 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 epileptic encephalopathy, early infantile, 49 epileptic_encephalopathy_early_infantile_49 Epileptic Encephalopathy, Early Infantile, 49 DENND5A retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CNGA1 MONDO:0019200 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 MONDO:0020630 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 MONDO:0011122 epileptic encephalopathy, early infantile, 29 epileptic_encephalopathy_early_infantile_29 Epileptic Encephalopathy, Early Infantile, 29 AARS MONDO:0014593 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 MONDO:0014953 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 MONDO:0054636 sacral defect with anterior meningocele sacral_defect_with_anterior_meningocele Sacral Defect with Anterior Meningocele VANGL1 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 MONDO:0033282 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 hemangioma, capillary infantile hemangioma_capillary_infantile Hemangioma, Capillary Infantile FLT4 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 GJA5 MONDO:0007171 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 MONDO:0015020 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 MONDO:0054591 stargardt disease 1 stargardt_disease_1_2 Stargardt Disease 1 CNGB3 craniometaphyseal dysplasia, autosomal recessive craniometaphyseal_dysplasia_autosomal_recessive Craniometaphyseal Dysplasia, Autosomal Recessive GJA1 brugada syndrome 2 brugada_syndrome_2 Brugada Syndrome 2 GPD1L MONDO:0012728 agammaglobulinemia 8, autosomal dominant agammaglobulinemia_8_autosomal_dominant Agammaglobulinemia 8, Autosomal Dominant TCF3 kleefstra syndrome 2 kleefstra_syndrome_2 Kleefstra Syndrome 2 KMT2C seckel syndrome 10 seckel_syndrome_10 Seckel Syndrome 10 NSMCE2 MONDO:0014991 fraser syndrome 3 fraser_syndrome_3 Fraser Syndrome 3 GRIP1 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations TBX1 MONDO:0016581 thrombocythemia 1 thrombocythemia_1 Thrombocythemia 1 THPO trigonocephaly 1 trigonocephaly_1 Trigonocephaly 1 FGFR1 myosin storage myopathy myosin_storage_myopathy Myosin Storage Myopathy MYH7 MONDO:0018889 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid NPM1 MONDO:0018874 acroleukopathy, symmetric acroleukopathy_symmetric Acroleukopathy, Symmetric AIP 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 MONDO:0060704 neuropathy, hereditary sensory, type iic neuropathy_hereditary_sensory_type_iic Neuropathy, Hereditary Sensory, Type Iic KIF1A MONDO:0013634 schimmelpenning-feuerstein-mims syndrome schimmelpenning_feuerstein_mims_syndrome Schimmelpenning-Feuerstein-Mims Syndrome NRAS MONDO:0008097 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 MONDO:0054743 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 MONDO:0060611 glycosylphosphatidylinositol biosynthesis defect 15 glycosylphosphatidylinositol_biosynthesis_defect_15 Glycosylphosphatidylinositol Biosynthesis Defect 15 GPAA1 MONDO:0060627 mental retardation, x-linked, syndromic, houge type mental_retardation_x_linked_syndromic_houge_type Mental Retardation, X-Linked, Syndromic, Houge Type CNKSR2 MONDO:0030909 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 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 MONDO:0009624 macrocephaly/megalencephaly syndrome, autosomal recessive macrocephaly_megalencephaly_syndrome_autosomal_recessive Macrocephaly/megalencephaly Syndrome, Autosomal Recessive TBC1D7 MONDO:0009544 uv-sensitive syndrome 1 uv_sensitive_syndrome_1 Uv-Sensitive Syndrome 1 ERCC6 MONDO:0010909 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 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 MONDO:0009068 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency PET100 MONDO:0009068 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 glycosylphosphatidylinositol biosynthesis defect 16 glycosylphosphatidylinositol_biosynthesis_defect_16 Glycosylphosphatidylinositol Biosynthesis Defect 16 PIGC MONDO:0040500 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 mental retardation, autosomal dominant 56 mental_retardation_autosomal_dominant_56 Mental Retardation, Autosomal Dominant 56 CLTC MONDO:0030922 mental retardation, autosomal dominant 50 mental_retardation_autosomal_dominant_50 Mental Retardation, Autosomal Dominant 50 NAA15 MONDO:0030916 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 elsahy-waters syndrome elsahy_waters_syndrome Elsahy-Waters Syndrome CDH11 esophageal cancer esophageal_cancer Esophageal Cancer LZTS1 MONDO:0007576 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ROM1 MONDO:0019200 colorectal cancer colorectal_cancer Colorectal Cancer PTPRJ MONDO:0005575 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy KCNT1 MONDO:0017385 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion TPM3 MONDO:0009711 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND4 MONDO:0010788 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND6 MONDO:0010788 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome WDR73 MONDO:0009627 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND1 MONDO:0010788 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid ETV6 MONDO:0018874 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND5 MONDO:0010788 colorectal cancer colorectal_cancer Colorectal Cancer RAD54B MONDO:0005575 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome NSD1 MONDO:0007534 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 MONDO:0018997 iga nephropathy 3 iga_nephropathy_3 Iga Nephropathy 3 SPRY2 MONDO:0011037 aplastic anemia aplastic_anemia Aplastic Anemia TERT MONDO:0015909 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-CYB MONDO:0010788 hypertriglyceridemia, familial hypertriglyceridemia_familial Hypertriglyceridemia, Familial LIPI leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-CO3 MONDO:0010788 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome BRCA1 MONDO:0003582 arterial calcification of infancy arterial_calcification_of_infancy Arterial Calcification of Infancy ENPP1 MONDO:0018870 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome BRCA2 MONDO:0003582 early myoclonic encephalopathy early_myoclonic_encephalopathy Early Myoclonic Encephalopathy SLC25A22 MONDO:0016022 amyloidosis, primary localized cutaneous, 3 amyloidosis_primary_localized_cutaneous_3 Amyloidosis, Primary Localized Cutaneous, 3 GPNMB cardiomyopathy, familial hypertrophic, 1 cardiomyopathy_familial_hypertrophic_1 Cardiomyopathy, Familial Hypertrophic, 1 MYLK2 MONDO:0008647 cardiomyopathy, familial hypertrophic, 1 cardiomyopathy_familial_hypertrophic_1 Cardiomyopathy, Familial Hypertrophic, 1 CAV3 MONDO:0008647 colorectal cancer colorectal_cancer Colorectal Cancer PTPN12 MONDO:0005575 combined oxidative phosphorylation deficiency 36 combined_oxidative_phosphorylation_deficiency_36 Combined Oxidative Phosphorylation Deficiency 36 MRPS2 MONDO:0054781 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 MONDO:0018163 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 MONDO:0044326 dyskeratosis congenita, autosomal dominant 1 dyskeratosis_congenita_autosomal_dominant_1 Dyskeratosis Congenita, Autosomal Dominant 1 TERC MONDO:0007485 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 esophageal cancer esophageal_cancer Esophageal Cancer DCC MONDO:0007576 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 MONDO:0044330 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 MONDO:0054771 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 MONDO:0060650 leukodystrophy, hypomyelinating, 15 leukodystrophy_hypomyelinating_15 Leukodystrophy, Hypomyelinating, 15 EPRS MONDO:0054782 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial RAD54B MONDO:0018908 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial PRF1 MONDO:0018908 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial RAD54L MONDO:0018908 mental retardation, autosomal dominant 51 mental_retardation_autosomal_dominant_51 Mental Retardation, Autosomal Dominant 51 KMT5B MONDO:0030917 mental retardation, autosomal dominant 55, with seizures mental_retardation_autosomal_dominant_55_with_seizures Mental Retardation, Autosomal Dominant 55, with Seizures NUS1 MONDO:0030921 microcephaly 20, primary, autosomal recessive microcephaly_20_primary_autosomal_recessive Microcephaly 20, Primary, Autosomal Recessive KIF14 MONDO:0054761 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 MONDO:0054785 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 MONDO:0010687 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 MONDO:0060624 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 optic atrophy 5 optic_atrophy_5 Optic Atrophy 5 DNM1L MONDO:0012543 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 MONDO:0019107 shwachman-diamond syndrome 2 shwachman_diamond_syndrome_2 Shwachman-Diamond Syndrome 2 EFL1 MONDO:0044205 spermatogenic failure 24 spermatogenic_failure_24 Spermatogenic Failure 24 CFAP69 spermatogenic failure 25 spermatogenic_failure_25 Spermatogenic Failure 25 TEX15 spinocerebellar ataxia 47 spinocerebellar_ataxia_47 Spinocerebellar Ataxia 47 PUM1 MONDO:0033482 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 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion ACTA1 MONDO:0009711 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND4L MONDO:0010788 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ATP6 MONDO:0010788 severe congenital neutropenia autosomal dominant severe_congenital_neutropenia_autosomal_dominant Severe Congenital Neutropenia Autosomal Dominant ELANE MONDO:0008742 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND2 MONDO:0010788 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 lymphoma, mucosa-associated lymphoid type lymphoma_mucosa_associated_lymphoid_type Lymphoma, Mucosa-Associated Lymphoid Type BCL10 MONDO:0007650 maleylacetoacetate isomerase deficiency maleylacetoacetate_isomerase_deficiency Maleylacetoacetate Isomerase Deficiency GSTZ1 uv-sensitive syndrome uv_sensitive_syndrome Uv-Sensitive Syndrome ERCC6 MONDO:0015797 hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex APCDD1 MONDO:0018914 pendred syndrome pendred_syndrome Pendred Syndrome FOXI1 MONDO:0010134 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion SELENON MONDO:0009711 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CLRN1 MONDO:0019200 distal hereditary motor neuropathy, type v distal_hereditary_motor_neuropathy_type_v_2 Distal Hereditary Motor Neuropathy, Type V GARS MONDO:0015353 epileptic encephalopathy, early infantile, 55 epileptic_encephalopathy_early_infantile_55 Epileptic Encephalopathy, Early Infantile, 55 PIGP MONDO:0033364 precocious puberty, central, 1 precocious_puberty_central_1 Precocious Puberty, Central, 1 KISS1R refsum disease, classic refsum_disease_classic Refsum Disease, Classic PEX7 MONDO:0009958 infantile nephronophthisis infantile_nephronophthisis Infantile Nephronophthisis INVS coloboma of macula coloboma_of_macula Coloboma of Macula PAX6 MONDO:0001476 cockayne syndrome type i cockayne_syndrome_type_i Cockayne Syndrome Type I ERCC8 MONDO:0019569 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 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes MAX MONDO:0017366 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 MONDO:0010408 inflammatory bowel disease 25, autosomal recessive inflammatory_bowel_disease_25_autosomal_recessive Inflammatory Bowel Disease 25, Autosomal Recessive IL10RB neurilemmomatosis neurilemmomatosis Neurilemmomatosis SMARCB1 MONDO:0008075 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 MONDO:0015353 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TMEM237 MONDO:0008944 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TCTN2 MONDO:0008944 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RPGR MONDO:0019200 salivary gland adenoma, pleomorphic salivary_gland_adenoma_pleomorphic Salivary Gland Adenoma, Pleomorphic PLAG1 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS19 MONDO:0015253 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 MONDO:0100347 thrombocythemia 2 thrombocythemia_2 Thrombocythemia 2 MPL adenosine monophosphate deaminase 1 deficiency adenosine_monophosphate_deaminase_1_deficiency Adenosine Monophosphate Deaminase 1 Deficiency AMPD1 MONDO:0013028 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 MONDO:0009624 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 neuropathy, hereditary sensory and autonomic, type iia neuropathy_hereditary_sensory_and_autonomic_type_iia Neuropathy, Hereditary Sensory and Autonomic, Type Iia SCN9A MONDO:0019941 neuropathy, hereditary sensory and autonomic, type iia neuropathy_hereditary_sensory_and_autonomic_type_iia Neuropathy, Hereditary Sensory and Autonomic, Type Iia RETREG1 MONDO:0019941 neuropathy, hereditary sensory and autonomic, type iia neuropathy_hereditary_sensory_and_autonomic_type_iia Neuropathy, Hereditary Sensory and Autonomic, Type Iia KIF1A MONDO:0019941 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RHO MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa USH2A MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PDE6B MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ABCA4 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SNRNP200 MONDO:0019200 brugada syndrome brugada_syndrome Brugada Syndrome SCN5A MONDO:0015263 catecholaminergic polymorphic ventricular tachycardia catecholaminergic_polymorphic_ventricular_tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia CASQ2 MONDO:0017990 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RP1 MONDO:0019200 autosomal dominant polycystic kidney disease autosomal_dominant_polycystic_kidney_disease Autosomal Dominant Polycystic Kidney Disease PKD2 MONDO:0004691 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome POMT1 MONDO:0000171 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome FKTN MONDO:0000171 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS24 MONDO:0015253 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita RTEL1 MONDO:0015780 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis LCA5 MONDO:0018998 catecholaminergic polymorphic ventricular tachycardia catecholaminergic_polymorphic_ventricular_tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia RYR2 MONDO:0017990 colorectal cancer colorectal_cancer Colorectal Cancer MLH1 MONDO:0005575 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 MONDO:0019200 hemophagocytic lymphohistiocytosis hemophagocytic_lymphohistiocytosis Hemophagocytic Lymphohistiocytosis PRF1 MONDO:0015540 hyperparathyroidism 4 hyperparathyroidism_4 Hyperparathyroidism 4 GCM2 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations GDF1 MONDO:0016581 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 MONDO:0005575 stargardt disease stargardt_disease Stargardt Disease ABCA4 MONDO:0019353 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome FKRP MONDO:0000171 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis AIPL1 MONDO:0018998 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis CRB1 MONDO:0018998 chronic granulomatous disease chronic_granulomatous_disease Chronic Granulomatous Disease CYBB MONDO:0018305 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CRB1 MONDO:0019200 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis NMNAT1 MONDO:0018998 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa EYS MONDO:0019200 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis SPATA7 MONDO:0018998 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa TULP1 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PDE6A MONDO:0019200 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCC MONDO:0019391 ovarian cancer ovarian_cancer Ovarian Cancer BRCA1 MONDO:0008170 catecholaminergic polymorphic ventricular tachycardia catecholaminergic_polymorphic_ventricular_tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia TRDN MONDO:0017990 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis RPE65 MONDO:0018998 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness CACNA1F MONDO:0016293 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita CTC1 MONDO:0015780 mantle cell lymphoma mantle_cell_lymphoma Mantle Cell Lymphoma ATM MONDO:0018876 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis RPGRIP1 MONDO:0018998 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness GRM6 MONDO:0016293 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL5 MONDO:0015253 hemophagocytic lymphohistiocytosis hemophagocytic_lymphohistiocytosis Hemophagocytic Lymphohistiocytosis STXBP2 MONDO:0015540 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita TINF2 MONDO:0015780 chronic granulomatous disease chronic_granulomatous_disease Chronic Granulomatous Disease NCF4 MONDO:0018305 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic TP53 MONDO:0004948 chronic granulomatous disease chronic_granulomatous_disease Chronic Granulomatous Disease CYBA MONDO:0018305 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CERKL MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RPE65 MONDO:0019200 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 KRAS MONDO:0018997 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa MERTK MONDO:0019200 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 SOS1 MONDO:0018997 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa TOPORS MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CNGB1 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RDH12 MONDO:0019200 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND6 MONDO:0009723 mosaic variegated aneuploidy syndrome mosaic_variegated_aneuploidy_syndrome Mosaic Variegated Aneuploidy Syndrome CEP57 MONDO:0000141 keratosis follicularis spinulosa decalvans keratosis_follicularis_spinulosa_decalvans Keratosis Follicularis Spinulosa Decalvans MBTPS2 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis CEP290 MONDO:0018998 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL11 MONDO:0015253 cowden disease cowden_disease Cowden Disease PTEN MONDO:0016063 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung TP53 MONDO:0008433 cowden disease cowden_disease Cowden Disease PIK3CA MONDO:0016063 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita NHP2 MONDO:0015780 brugada syndrome brugada_syndrome Brugada Syndrome CACNA1C MONDO:0015263 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PCARE MONDO:0019200 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 RAF1 MONDO:0018997 hereditary spherocytosis hereditary_spherocytosis Hereditary Spherocytosis SPTB MONDO:0019350 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome DLL4 MONDO:0007034 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita PARN MONDO:0015780 familial isolated pituitary adenoma familial_isolated_pituitary_adenoma Familial Isolated Pituitary Adenoma AIP retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RLBP1 MONDO:0019200 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHB MONDO:0017366 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 AHI1 MONDO:0008944 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis IQCB1 MONDO:0018998 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND4 MONDO:0009723 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TMEM67 MONDO:0008944 childhood hepatocellular carcinoma childhood_hepatocellular_carcinoma Childhood Hepatocellular Carcinoma MET hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHC MONDO:0017366 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PROM1 MONDO:0019200 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy MT-ND3 MONDO:0010788 familial sick sinus syndrome familial_sick_sinus_syndrome Familial Sick Sinus Syndrome SCN5A joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 MKS1 MONDO:0008944 cockayne syndrome type ii cockayne_syndrome_type_ii Cockayne Syndrome Type Ii ERCC6 MONDO:0019570 porokeratosis porokeratosis Porokeratosis MVD MONDO:0006602 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCG MONDO:0019391 juvenile nephronophthisis juvenile_nephronophthisis Juvenile Nephronophthisis NPHP1 neonatal marfan syndrome neonatal_marfan_syndrome Neonatal Marfan Syndrome FBN1 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRCD MONDO:0019200 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia GATA1 MONDO:0015253 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCI MONDO:0019391 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa BEST1 MONDO:0019200 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation MYL4 MONDO:0018054 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCD2 MONDO:0019391 mosaic variegated aneuploidy syndrome mosaic_variegated_aneuploidy_syndrome Mosaic Variegated Aneuploidy Syndrome BUB1B MONDO:0000141 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 RIT1 MONDO:0018997 hereditary methemoglobinemia hereditary_methemoglobinemia Hereditary Methemoglobinemia CYB5R3 MONDO:0018963 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCF MONDO:0019391 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 MONDO:0019391 mitochondrial neurogastrointestinal encephalomyopathy mitochondrial_neurogastrointestinal_encephalomyopathy Mitochondrial Neurogastrointestinal Encephalomyopathy TYMP MONDO:0017575 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHD MONDO:0017366 familial glucocorticoid deficiency familial_glucocorticoid_deficiency Familial Glucocorticoid Deficiency MC2R mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency MT-CO3 MONDO:0009068 cerebellar hypoplasia with endosteal sclerosis cerebellar_hypoplasia_with_endosteal_sclerosis Cerebellar Hypoplasia with Endosteal Sclerosis POLR3B MONDO:0013722 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma KRAS MONDO:0016691 peho syndrome peho_syndrome Peho Syndrome KIF1A MONDO:0009841 griscelli syndrome, type 3 griscelli_syndrome_type_3_2 Griscelli Syndrome, Type 3 MYO5A MONDO:0012220 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes GRIN2A MONDO:0007295 deafness, aminoglycoside-induced deafness_aminoglycoside_induced Deafness, Aminoglycoside-Induced MT-RNR1 MONDO:0010799 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 MONDO:0017730 metachromatic leukodystrophy, juvenile form metachromatic_leukodystrophy_juvenile_form Metachromatic Leukodystrophy, Juvenile Form ARSA MONDO:0009591 metachromatic leukodystrophy, late infantile form metachromatic_leukodystrophy_late_infantile_form Metachromatic Leukodystrophy, Late Infantile Form ARSA MONDO:0017729 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 MONDO:0008831 visceral myopathy visceral_myopathy Visceral Myopathy LMOD1 MONDO:0100354 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 NRAS MONDO:0018997 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND1 MONDO:0009723 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-ND2 MONDO:0009723 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa GUCA1A MONDO:0019200 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 MONDO:0013331 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 MONDO:0017366 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa AHI1 MONDO:0019200 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 MONDO:0019588 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 MONDO:0008831 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 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 MONDO:0018213 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 MONDO:0008742 mitochondrial neurogastrointestinal encephalomyopathy mitochondrial_neurogastrointestinal_encephalomyopathy Mitochondrial Neurogastrointestinal Encephalomyopathy POLG MONDO:0017575 autosomal dominant epilepsy with auditory features autosomal_dominant_epilepsy_with_auditory_features Autosomal Dominant Epilepsy with Auditory Features LGI1 MONDO:0100031 martsolf syndrome martsolf_syndrome Martsolf Syndrome RAB3GAP1 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 B9D1 MONDO:0008944 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 MONDO:0013127 nonaka myopathy nonaka_myopathy Nonaka Myopathy SQSTM1 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 KIAA0586 MONDO:0008944 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 MONDO:0010789 isolated aniridia isolated_aniridia Isolated Aniridia PAX6 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 MONDO:0015447 meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 GMNN MONDO:0016817 visceral myopathy visceral_myopathy Visceral Myopathy MYLK MONDO:0100354 gastric cancer gastric_cancer Gastric Cancer KRAS MONDO:0004950 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa IFT140 MONDO:0019200 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-TW MONDO:0009723 leber hereditary optic neuropathy leber_hereditary_optic_neuropathy Leber Hereditary Optic Neuropathy NDUFS2 MONDO:0010788 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a SLX4 MONDO:0019391 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-TK MONDO:0009723 asthma asthma Asthma ADRB2 MONDO:0004979 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 MONDO:0013127 shwachman-diamond syndrome 1 shwachman_diamond_syndrome_1 Shwachman-Diamond Syndrome 1 SRP54 MONDO:0009833 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-TL1 MONDO:0009723 asthma asthma Asthma IL13 MONDO:0004979 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes GABRG2 MONDO:0007295 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa UNC119 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SCAPER MONDO:0019200 cardiomyopathy, infantile histiocytoid cardiomyopathy_infantile_histiocytoid Cardiomyopathy, Infantile Histiocytoid MT-CYB MONDO:0010771 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0011238 combined pituitary hormone deficiencies, genetic forms combined_pituitary_hormone_deficiencies_genetic_forms Combined Pituitary Hormone Deficiencies, Genetic Forms PROP1 cutis laxa, autosomal dominant 1 cutis_laxa_autosomal_dominant_1 Cutis Laxa, Autosomal Dominant 1 FBLN5 MONDO:0019571 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 MONDO:0015487 female infertility due to zona pellucida defect female_infertility_due_to_zona_pellucida_defect Female Infertility Due to Zona Pellucida Defect ZP1 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 MONDO:0003582 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 MONDO:0009723 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid TGM6 MONDO:0018874 melorheostosis with osteopoikilosis melorheostosis_with_osteopoikilosis Melorheostosis with Osteopoikilosis LEMD3 MONDO:0015995 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COA3 MONDO:0009068 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 MONDO:0010789 mitochondrial myopathy, infantile, transient mitochondrial_myopathy_infantile_transient Mitochondrial Myopathy, Infantile, Transient MT-TE MONDO:0010780 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 MONDO:0007990 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 MONDO:0008831 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 MONDO:0008831 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 MONDO:0008831 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 MONDO:0008831 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 MONDO:0008831 spondylodysplastic ehlers-danlos syndrome spondylodysplastic_ehlers_danlos_syndrome Spondylodysplastic Ehlers-Danlos Syndrome B4GALT7 x-linked intellectual disability, siderius type x_linked_intellectual_disability_siderius_type X-Linked Intellectual Disability, Siderius Type PHF8 MONDO:0010286 aplastic anemia aplastic_anemia Aplastic Anemia IFNG MONDO:0015909 lung cancer lung_cancer Lung Cancer CASP8 MONDO:0005233 asthma asthma Asthma ALOX5 MONDO:0004979 schizophrenia schizophrenia Schizophrenia COMT MONDO:0005090 hematuria, benign familial hematuria_benign_familial Hematuria, Benign Familial COL4A4 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent INSR MONDO:0005148 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-ND1 MONDO:0009640 alzheimer disease alzheimer_disease Alzheimer Disease A2M MONDO:0100087 intervertebral disc disease intervertebral_disc_disease Intervertebral Disc Disease COL9A3 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder DRD4 MONDO:0005302 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid SETBP1 MONDO:0011996 alcohol dependence alcohol_dependence Alcohol Dependence ADH1B MONDO:0007079 asthma asthma Asthma CCL11 MONDO:0004979 schizophrenia schizophrenia Schizophrenia HTR2A MONDO:0005090 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 MONDO:0010782 46,xy sex reversal 8 46xy_sex_reversal_8_2 46,xy Sex Reversal 8 AKR1C4 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations ZFPM2 MONDO:0016581 asthma asthma Asthma TNF MONDO:0004979 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 meningioma, familial meningioma_familial Meningioma, Familial SUFU MONDO:0011789 breast cancer breast_cancer Breast Cancer ESR1 MONDO:0004989 pseudofolliculitis barbae pseudofolliculitis_barbae Pseudofolliculitis Barbae KRT75 breast cancer breast_cancer Breast Cancer CASP8 MONDO:0004989 schizophrenia schizophrenia Schizophrenia MTHFR MONDO:0005090 spinal muscular atrophy, type iii spinal_muscular_atrophy_type_iii Spinal Muscular Atrophy, Type Iii SMN2 MONDO:0009672 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 MONDO:0015057 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 MONDO:0009640 striatonigral degeneration, infantile, mitochondrial striatonigral_degeneration_infantile_mitochondrial Striatonigral Degeneration, Infantile, Mitochondrial MT-ATP6 MONDO:0010774 breast cancer breast_cancer Breast Cancer XRCC3 MONDO:0004989 breast cancer breast_cancer Breast Cancer PHB MONDO:0004989 asthma asthma Asthma MUC7 MONDO:0004979 schizophrenia schizophrenia Schizophrenia DRD3 MONDO:0005090 gastric cancer gastric_cancer Gastric Cancer ERBB2 MONDO:0004950 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent RETN MONDO:0005148 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder DRD5 MONDO:0005302 helicobacter pylori infection helicobacter_pylori_infection Helicobacter Pylori Infection IFNGR1 breast cancer breast_cancer Breast Cancer RAD54L MONDO:0004989 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset MAPT MONDO:0005180 alcohol dependence alcohol_dependence Alcohol Dependence ADH1C MONDO:0007079 lung cancer lung_cancer Lung Cancer CYP2A6 MONDO:0005233 celiac disease 3 celiac_disease_3 Celiac Disease 3 CTLA4 dengue virus dengue_virus Dengue Virus CD209 hypertension, essential hypertension_essential Hypertension, Essential AGT MONDO:0001134 lung cancer lung_cancer Lung Cancer FASLG MONDO:0005233 asthma asthma Asthma HNMT MONDO:0004979 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent SLC30A8 MONDO:0005148 buruli ulcer buruli_ulcer Buruli Ulcer SLC11A1 MONDO:0000327 neural tube defects, folate-sensitive neural_tube_defects_folate_sensitive Neural Tube Defects, Folate-Sensitive MTHFR MONDO:0011120 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 MONDO:0011122 intervertebral disc disease intervertebral_disc_disease Intervertebral Disc Disease CILP alzheimer disease alzheimer_disease Alzheimer Disease PLAU MONDO:0100087 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 MONDO:0004979 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 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 MONDO:0012831 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 MONDO:0012970 stroke, ischemic stroke_ischemic Stroke, Ischemic F5 MONDO:0002679 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 ADRB3 MONDO:0011122 hypertension, essential hypertension_essential Hypertension, Essential ADD1 MONDO:0001134 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 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 MONDO:0001134 celiac disease 4 celiac_disease_4 Celiac Disease 4 MYO9B pulmonary hypertension, neonatal pulmonary_hypertension_neonatal Pulmonary Hypertension, Neonatal CPS1 MONDO:0014151 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 MONDO:0011685 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 MONDO:0013258 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 MONDO:0018908 pancreatitis, hereditary pancreatitis_hereditary Pancreatitis, Hereditary PRSS2 myeloma, multiple myeloma_multiple Myeloma, Multiple CCND1 MONDO:0009693 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent PPARG MONDO:0005148 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent IRS2 MONDO:0005148 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent HNF1A MONDO:0005148 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent ENPP1 MONDO:0005148 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 MONDO:0005148 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent PTPN1 MONDO:0005148 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic IL4R MONDO:0007817 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 MONDO:0011120 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 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 MONDO:0012419 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 MONDO:0013409 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 MONDO:0014056 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent LIPC MONDO:0005148 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 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 MONDO:0010863 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 MONDO:0014041 glucocorticoid therapy, response to glucocorticoid_therapy_response_to Glucocorticoid Therapy, Response to GLCCI1 glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 TP53 MONDO:0024498 autoimmune disease 1 autoimmune_disease_1 Autoimmune Disease 1 FOXD3 deafness, autosomal recessive 12 deafness_autosomal_recessive_12 Deafness, Autosomal Recessive 12 ATP2B2 MONDO:0011067 thiourea tasting thiourea_tasting Thiourea Tasting TAS2R38 hypertension, diastolic hypertension_diastolic Hypertension, Diastolic KCNMB1 leprosy 5 leprosy_5 Leprosy 5 TLR1 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 TLR3 alcohol dependence alcohol_dependence Alcohol Dependence GABRA2 MONDO:0007079 lung cancer lung_cancer Lung Cancer ERCC6 MONDO:0005233 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent PDX1 MONDO:0005148 pheochromocytoma pheochromocytoma Pheochromocytoma GDNF MONDO:0004974 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 ADRB2 MONDO:0011122 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset TBP MONDO:0005180 chitotriosidase deficiency chitotriosidase_deficiency Chitotriosidase Deficiency CHIT1 breast cancer breast_cancer Breast Cancer HMMR MONDO:0004989 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 ENPP1 MONDO:0011122 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CCL11 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CD209 alzheimer disease alzheimer_disease Alzheimer Disease MPO MONDO:0100087 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 CARTPT MONDO:0011122 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 HLA-C hypertension, essential hypertension_essential Hypertension, Essential AGTR1 MONDO:0001134 hepatitis c virus hepatitis_c_virus Hepatitis C Virus IFNL3 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset ATXN2 MONDO:0005180 alzheimer disease alzheimer_disease Alzheimer Disease NOS3 MONDO:0100087 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CCL2 hepatitis c virus hepatitis_c_virus Hepatitis C Virus CCR5 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent HMGA1 MONDO:0005148 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent IGF2BP2 MONDO:0005148 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CX3CR1 asthma asthma Asthma PLA2G7 MONDO:0004979 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 MONDO:0005439 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent MTNR1B MONDO:0005148 stroke, ischemic stroke_ischemic Stroke, Ischemic PRKCH MONDO:0002679 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 IL4R colorectal cancer colorectal_cancer Colorectal Cancer AKT1 MONDO:0005575 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic MS4A2 MONDO:0007817 hypertension, essential hypertension_essential Hypertension, Essential ECE1 MONDO:0001134 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 MONDO:0011120 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 UCP1 MONDO:0011122 fanconi anemia, complementation group u fanconi_anemia_complementation_group_u_2 Fanconi Anemia, Complementation Group U XRCC2 MONDO:0014987 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 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 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 AGRP MONDO:0011122 dyslexia 1 dyslexia_1 Dyslexia 1 DNAAF4 porphyria variegata porphyria_variegata Porphyria Variegata HFE MONDO:0008297 protein z deficiency protein_z_deficiency Protein Z Deficiency PROZ alcohol sensitivity, acute alcohol_sensitivity_acute Alcohol Sensitivity, Acute ALDH2 MONDO:0012454 arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain IL6 MONDO:0007154 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 MONDO:0010799 hemorrhage, intracerebral hemorrhage_intracerebral Hemorrhage, Intracerebral ACE hepatitis c virus hepatitis_c_virus Hepatitis C Virus PTPRC hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial PPP1R17 MONDO:0005439 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial ITIH4 MONDO:0005439 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial EPHX2 MONDO:0005439 hypertension, essential hypertension_essential Hypertension, Essential CYP3A5 MONDO:0001134 invasive pneumococcal disease, recurrent isolated, 1 invasive_pneumococcal_disease_recurrent_isolated_1 Invasive Pneumococcal Disease, Recurrent Isolated, 1 TIRAP myeloma, multiple myeloma_multiple Myeloma, Multiple LIG4 MONDO:0009693 nephrolithiasis, uric acid nephrolithiasis_uric_acid Nephrolithiasis, Uric Acid ZNF365 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 MONDO:0013199 schizophrenia schizophrenia Schizophrenia SYN2 MONDO:0005090 breast cancer breast_cancer Breast Cancer PPM1D MONDO:0004989 hypertension, essential hypertension_essential Hypertension, Essential NOS3 MONDO:0001134 alzheimer disease alzheimer_disease Alzheimer Disease HFE MONDO:0100087 hemochromatosis, type 1 hemochromatosis_type_1_2 Hemochromatosis, Type 1 BMP2 MONDO:0006507 ovarian cancer ovarian_cancer Ovarian Cancer AKT1 MONDO:0008170 meningioma, familial meningioma_familial Meningioma, Familial PTEN MONDO:0011789 stroke, ischemic stroke_ischemic Stroke, Ischemic ALOX5AP MONDO:0002679 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 MONDO:0007079 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 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 MONDO:0005090 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 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 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 MONDO:0008300 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 glaucoma, normal tension glaucoma_normal_tension Glaucoma, Normal Tension OPTN parkinson-dementia syndrome parkinson_dementia_syndrome Parkinson-Dementia Syndrome MAPT 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 MONDO:0011122 osteogenic sarcoma osteogenic_sarcoma Osteogenic Sarcoma RB1 MONDO:0009807 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CCL3L1 endometrial cancer endometrial_cancer Endometrial Cancer CDH1 MONDO:0002447 colorectal cancer colorectal_cancer Colorectal Cancer CCND1 MONDO:0005575 iminoglycinuria iminoglycinuria Iminoglycinuria SLC6A20 MONDO:0009448 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CXCR1 stroke, ischemic stroke_ischemic Stroke, Ischemic NOS3 MONDO:0002679 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial ABCA1 MONDO:0005439 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome SNRPN MONDO:0008300 medulloblastoma medulloblastoma Medulloblastoma PTCH2 MONDO:0007959 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 MONDO:0011122 ovarian cancer ovarian_cancer Ovarian Cancer CDH1 MONDO:0008170 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary HNF1B MONDO:0005086 colorectal cancer colorectal_cancer Colorectal Cancer SRC MONDO:0005575 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 SDC3 MONDO:0011122 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 SLC6A14 MONDO:0011122 pheochromocytoma pheochromocytoma Pheochromocytoma KIF1B MONDO:0004974 bacteremia 1 bacteremia_1 Bacteremia 1 TIRAP 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 MONDO:0007648 gastric cancer, hereditary diffuse gastric_cancer_hereditary_diffuse Gastric Cancer, Hereditary Diffuse IL1B MONDO:0007648 glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 IDH1 MONDO:0024498 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial GHR MONDO:0005439 hypothalamic hamartomas hypothalamic_hamartomas Hypothalamic Hamartomas GLI3 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic PLA2G7 MONDO:0007817 intervertebral disc disease intervertebral_disc_disease Intervertebral Disc Disease COL11A1 leprosy 2 leprosy_2 Leprosy 2 PRKN leprosy 4 leprosy_4 Leprosy 4 LTA parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset ADH1C MONDO:0005180 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 MONDO:0011789 heinz body anemias heinz_body_anemias Heinz Body Anemias HBA1 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome FOXRED1 MONDO:0009723 hyperglycinuria hyperglycinuria Hyperglycinuria SLC6A20 MONDO:0007677 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome TET2 MONDO:0018881 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 MONDO:0005086 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 MONDO:0010172 cowden syndrome 2 cowden_syndrome_2 Cowden Syndrome 2 SDHB MONDO:0012878 fucosyltransferase 6 deficiency fucosyltransferase_6_deficiency_2 Fucosyltransferase 6 Deficiency FUT6 colorectal cancer colorectal_cancer Colorectal Cancer BUB1B MONDO:0005575 chromosome 5q deletion syndrome chromosome_5q_deletion_syndrome Chromosome 5q Deletion Syndrome RPS14 MONDO:0007925 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 MONDO:0008093 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome ASXL1 MONDO:0018881 colorectal cancer colorectal_cancer Colorectal Cancer ODC1 MONDO:0005575 porphyria cutanea tarda porphyria_cutanea_tarda Porphyria Cutanea Tarda HFE MONDO:0019799 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 candidiasis, familial, 4 candidiasis_familial_4 Candidiasis, Familial, 4 CLEC7A pancreatic agenesis 2 pancreatic_agenesis_2 Pancreatic Agenesis 2 PTF1A schizencephaly schizencephaly Schizencephaly SHH body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 SIM1 MONDO:0011122 lung cancer lung_cancer Lung Cancer MAP3K8 MONDO:0005233 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 PRCC MONDO:0017884 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 MONDO:0014166 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 MONDO:0005086 zellweger syndrome zellweger_syndrome Zellweger Syndrome PEX1 MONDO:0019609 colorectal cancer colorectal_cancer Colorectal Cancer TLR2 MONDO:0005575 carotid intimal medial thickness 1 carotid_intimal_medial_thickness_1 Carotid Intimal Medial Thickness 1 PPARG 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 gastric cancer, hereditary diffuse gastric_cancer_hereditary_diffuse Gastric Cancer, Hereditary Diffuse KRAS MONDO:0007648 histiocytoma, angiomatoid fibrous histiocytoma_angiomatoid_fibrous Histiocytoma, Angiomatoid Fibrous CREB1 lung cancer lung_cancer Lung Cancer PRKN MONDO:0005233 ventricular tachycardia, familial ventricular_tachycardia_familial Ventricular Tachycardia, Familial GNAI2 familial adenomatous polyposis familial_adenomatous_polyposis Familial Adenomatous Polyposis APC MONDO:0021055 hypophosphatasia hypophosphatasia Hypophosphatasia ALPL MONDO:0018570 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid TERT MONDO:0018874 lutheran null lutheran_null Lutheran Null BCAM colorectal cancer colorectal_cancer Colorectal Cancer AURKA MONDO:0005575 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 psoriasis 1 psoriasis_1 Psoriasis 1 HLA-C 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 MONDO:0008559 colorectal cancer colorectal_cancer Colorectal Cancer PLA2G2A MONDO:0005575 juvenile retinoschisis juvenile_retinoschisis Juvenile Retinoschisis RS1 mitochondrial complex iii deficiency mitochondrial_complex_iii_deficiency Mitochondrial Complex Iii Deficiency BCS1L MONDO:0015448 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 MONDO:0060671 influenza, severe influenza_severe Influenza, Severe IFITM3 mucopolysaccharidosis iv mucopolysaccharidosis_iv Mucopolysaccharidosis Iv GALNS MONDO:0018938 spastic paraplegia 15 spastic_paraplegia_15 Spastic Paraplegia 15 ZFYVE26 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial BCL10 MONDO:0018908 breast cancer breast_cancer Breast Cancer ERBB2 MONDO:0004989 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita TERC MONDO:0015780 thyroxine-binding globulin quantitative trait locus thyroxine_binding_globulin_quantitative_trait_locus Thyroxine-Binding Globulin Quantitative Trait Locus SERPINA7 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 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 aniridia 2 aniridia_2 Aniridia 2 ELP4 MONDO:0014937 ehlers-danlos syndrome, classic type ehlers_danlos_syndrome_classic_type Ehlers-Danlos Syndrome, Classic Type COL5A1 ataxia with vitamin e deficiency ataxia_with_vitamin_e_deficiency Ataxia with Vitamin E Deficiency TTPA spastic paraplegia 3 spastic_paraplegia_3 Spastic Paraplegia 3 ATL1 spastic paraplegia 5a spastic_paraplegia_5a Spastic Paraplegia 5a CYP7B1 osteochondrodysplasia osteochondrodysplasia Osteochondrodysplasia SLC26A2 MONDO:0005516 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia RARA MONDO:0012883 thrombocytopenia, paris-trousseau type thrombocytopenia_paris_trousseau_type Thrombocytopenia, Paris-Trousseau Type TCPT nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma TP53 MONDO:0015459 thrombophilia thrombophilia Thrombophilia F2 MONDO:0002305 wolf-hirschhorn syndrome wolf_hirschhorn_syndrome Wolf-Hirschhorn Syndrome NSD2 MONDO:0008684 galactosemia galactosemia Galactosemia GALK1 MONDO:0018116 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 MONDO:0008559 pten hamartoma tumor syndrome pten_hamartoma_tumor_syndrome Pten Hamartoma Tumor Syndrome PTEN MONDO:0017623 homocystinuria due to cbs deficiency homocystinuria_due_to_cbs_deficiency Homocystinuria Due to Cbs Deficiency CBS MONDO:0009352 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 MONDO:0007534 charcot-marie-tooth disease type 2f charcot_marie_tooth_disease_type_2f Charcot-Marie-Tooth Disease Type 2f HSPB1 MONDO:0011687 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 ehlers-danlos syndrome, classic type ehlers_danlos_syndrome_classic_type Ehlers-Danlos Syndrome, Classic Type COL1A1 mutyh-associated polyposis mutyh_associated_polyposis Mutyh-Associated Polyposis MUTYH MONDO:0012041 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid CHIC2 MONDO:0018874 kallmann syndrome 3 kallmann_syndrome_3 Kallmann Syndrome 3 PROKR2 familial porphyria cutanea tarda familial_porphyria_cutanea_tarda Familial Porphyria Cutanea Tarda UROD MONDO:0008296 diffuse mesangial sclerosis diffuse_mesangial_sclerosis Diffuse Mesangial Sclerosis WT1 inclusion body myositis inclusion_body_myositis Inclusion Body Myositis GNE MONDO:0007827 deafness-infertility syndrome deafness_infertility_syndrome Deafness-Infertility Syndrome CATSPER2 hydrocephalus hydrocephalus Hydrocephalus CCDC88C MONDO:0001150 chromosome 14q32 duplication syndrome, 700-kb chromosome_14q32_duplication_syndrome_700_kb Chromosome 14q32 Duplication Syndrome, 700-Kb DUP14Q32 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 MONDO:0044792 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 MONDO:0008559 tumoral calcinosis, hyperphosphatemic, familial, 3 tumoral_calcinosis_hyperphosphatemic_familial_3 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 KL dyserythropoietic anemia and thrombocytopenia dyserythropoietic_anemia_and_thrombocytopenia Dyserythropoietic Anemia and Thrombocytopenia GATA1 spastic paraplegia 6 spastic_paraplegia_6 Spastic Paraplegia 6 NIPA1 colorectal cancer colorectal_cancer Colorectal Cancer KRAS MONDO:0005575 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion MYH7 MONDO:0009711 spastic paraplegia 13 spastic_paraplegia_13 Spastic Paraplegia 13 HSPD1 MONDO:0011532 spastic paraplegia 12 spastic_paraplegia_12 Spastic Paraplegia 12 RTN2 MONDO:0011489 spastic paraplegia 18 spastic_paraplegia_18 Spastic Paraplegia 18 ERLIN2 hypermethioninemia hypermethioninemia Hypermethioninemia MAT1A MONDO:0000351 spastic paraplegia 17 spastic_paraplegia_17 Spastic Paraplegia 17 BSCL2 MONDO:0010043 multiple mitochondrial dysfunctions syndrome 2 multiple_mitochondrial_dysfunctions_syndrome_2 Multiple Mitochondrial Dysfunctions Syndrome 2 BOLA3 MONDO:0013675 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 MONDO:0012407 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita WRAP53 MONDO:0015780 pulmonary venoocclusive disease pulmonary_venoocclusive_disease Pulmonary Venoocclusive Disease BMPR2 MONDO:0009937 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 MONDO:0000507 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 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 MONDO:0011835 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 MONDO:0008944 gnao1 encephalopathy gnao1_encephalopathy Gnao1 Encephalopathy GNAO1 MONDO:0014199 early-onset generalized dystonia early_onset_generalized_dystonia Early-Onset Generalized Dystonia TOR1A 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 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 MONDO:0008926 geroderma osteodysplastica geroderma_osteodysplastica Geroderma Osteodysplastica GORAB ventricular tachycardia, catecholaminergic polymorphic, 3 ventricular_tachycardia_catecholaminergic_polymorphic_3 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 TECRL MONDO:0013529 north american indian childhood cirrhosis north_american_indian_childhood_cirrhosis North American Indian Childhood Cirrhosis UTP4 MONDO:0011497 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 MONDO:0010278 spastic paraplegia 26 spastic_paraplegia_26 Spastic Paraplegia 26 B4GALNT1 aplasia cutis congenita aplasia_cutis_congenita Aplasia Cutis Congenita BMS1 MONDO:0007145 afibrinogenemia afibrinogenemia Afibrinogenemia CFI pyogenic arthritis, pyoderma gangrenosum and acne pyogenic_arthritis_pyoderma_gangrenosum_and_acne Pyogenic Arthritis, Pyoderma Gangrenosum and Acne PSTPIP1 MONDO:0011462 hypochromic microcytic anemia with iron overload hypochromic_microcytic_anemia_with_iron_overload Hypochromic Microcytic Anemia with Iron Overload SLC11A2 MONDO:0000104 dyskeratosis congenita autosomal dominant dyskeratosis_congenita_autosomal_dominant Dyskeratosis Congenita Autosomal Dominant TERC MONDO:0007485 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 MONDO:0004069 spastic paraplegia 39 spastic_paraplegia_39 Spastic Paraplegia 39 PNPLA6 MONDO:0012787 dyskeratosis congenita autosomal dominant dyskeratosis_congenita_autosomal_dominant Dyskeratosis Congenita Autosomal Dominant TINF2 MONDO:0007485 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 MONDO:0015091 nakajo syndrome nakajo_syndrome Nakajo Syndrome PSMB8 MONDO:0009726 kallmann syndrome 4 kallmann_syndrome_4 Kallmann Syndrome 4 PROK2 leukonychia totalis leukonychia_totalis Leukonychia Totalis PLCD1 MONDO:0016557 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 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid RUNX1 MONDO:0018874 alg1-congenital disorder of glycosylation alg1_congenital_disorder_of_glycosylation Alg1-Congenital Disorder of Glycosylation ALG1 MONDO:0012052 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 MONDO:0012123 congenital disorder of glycosylation, type ie congenital_disorder_of_glycosylation_type_ie Congenital Disorder of Glycosylation, Type Ie PMM2 MONDO:0012123 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 MONDO:0010779 epidermolysa bullosa simplex with muscular dystrophy epidermolysa_bullosa_simplex_with_muscular_dystrophy Epidermolysa Bullosa Simplex with Muscular Dystrophy PLEC 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 aniridia 1 aniridia_1 Aniridia 1 ELP4 MONDO:0019172 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFAF2 MONDO:0009723 inclusion body myositis inclusion_body_myositis Inclusion Body Myositis MYH2 MONDO:0007827 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion RYR1 MONDO:0009711 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid PICALM MONDO:0018874 neuropathy, hereditary sensory, type ie neuropathy_hereditary_sensory_type_ie Neuropathy, Hereditary Sensory, Type Ie SPTLC1 MONDO:0013584 facioscapulohumeral muscular dystrophy 1 facioscapulohumeral_muscular_dystrophy_1 Facioscapulohumeral Muscular Dystrophy 1 FSHMD1A MONDO:0001347 cholecystitis cholecystitis Cholecystitis ABCB4 MONDO:0002155 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 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 MONDO:0015427 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 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 MONDO:0011783 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 MONDO:0054742 mitochondrial dna depletion syndrome 1 mitochondrial_dna_depletion_syndrome_1_mngie_type Mitochondrial Dna Depletion Syndrome 1 POLG MONDO:0011283 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 MONDO:0011444 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 MONDO:0060621 fatal infantile encephalocardiomyopathy fatal_infantile_encephalocardiomyopathy Fatal Infantile Encephalocardiomyopathy SCO2 MONDO:0015487 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 MONDO:0011335 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula BRCA2 MONDO:0008586 deafness, autosomal dominant nonsyndromic sensorineural 17 deafness_autosomal_dominant_nonsyndromic_sensorineural_17 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 MYH9 MONDO:0011350 recombination rate quantitative trait locus 1 recombination_rate_quantitative_trait_locus_1 Recombination Rate Quantitative Trait Locus 1 RNF212 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 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 MONDO:0008586 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 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 twinning, dizygotic twinning_dizygotic Twinning, Dizygotic FSHR x-linked infantile nystagmus x_linked_infantile_nystagmus X-Linked Infantile Nystagmus FRMD7 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 MONDO:0007342 lrba deficiency lrba_deficiency Lrba Deficiency LRBA stomatocytosis i stomatocytosis_i Stomatocytosis I RHAG MONDO:0008493 macrozoospermia macrozoospermia Macrozoospermia AURKC MONDO:0009461 cataract hutterite type cataract_hutterite_type Cataract Hutterite Type LEMD2 MONDO:0008925 split-hand/foot malformation 1 split_hand_foot_malformation_1_3 Split-Hand/foot Malformation 1 SEM1 MONDO:0008464 bap1 tumor predisposition syndrome bap1_tumor_predisposition_syndrome Bap1 Tumor Predisposition Syndrome BAP1 MONDO:0013692 bamforth syndrome bamforth_syndrome Bamforth Syndrome FOXE1 nevus, epidermal nevus_epidermal Nevus, Epidermal KRAS MONDO:0008093 oculomaxillofacial dysostosis oculomaxillofacial_dysostosis Oculomaxillofacial Dysostosis SPECC1L itch e3 ubiquitin ligase deficiency itch_e3_ubiquitin_ligase_deficiency Itch E3 Ubiquitin Ligase Deficiency ITCH zellweger spectrum disorder zellweger_spectrum_disorder Zellweger Spectrum Disorder PEX6 MONDO:0019609 jacobsen syndrome jacobsen_syndrome Jacobsen Syndrome JBS colorectal cancer colorectal_cancer Colorectal Cancer SMAD4 MONDO:0005575 lynch syndrome lynch_syndrome Lynch Syndrome MLH1 MONDO:0005835 nemaline myopathy nemaline_myopathy Nemaline Myopathy NEB MONDO:0018958 primary hyperoxaluria primary_hyperoxaluria Primary Hyperoxaluria AGXT MONDO:0002474 thyroid cancer thyroid_cancer Thyroid Cancer BRAF MONDO:0015075 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 MONDO:0004989 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 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 xq27.3-q28 duplication syndrome chromosome_xq273_q28_duplication_syndrome Chromosome Xq27.3-Q28 Duplication Syndrome DUPXQ27.3Q28 chromosome 17q23.1-q23.2 duplication syndrome chromosome_17q231_q232_duplication_syndrome Chromosome 17q23.1-Q23.2 Duplication Syndrome DUP17Q23.1Q23.2 macrophthalmia, colobomatous, with microcornea macrophthalmia_colobomatous_with_microcornea Macrophthalmia, Colobomatous, with Microcornea MACOM supernumerary der(22)t(8 supernumerary_der22t8 Supernumerary Der(22)t(8 DER22T8-22 chromosome 19q13.11 deletion syndrome, proximal chromosome_19q1311_deletion_syndrome_proximal Chromosome 19q13.11 Deletion Syndrome, Proximal DEL19Q13.11P 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 chromosome 18 pericentric inversion chromosome_18_pericentric_inversion Chromosome 18 Pericentric Inversion DUP18PDEL18Q 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 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 16p13.2 deletion syndrome chromosome_16p132_deletion_syndrome Chromosome 16p13.2 Deletion Syndrome DEL16P13.2 chromosome 1p35 deletion syndrome chromosome_1p35_deletion_syndrome Chromosome 1p35 Deletion Syndrome C1DELP35 chromosome xp11.3 deletion syndrome chromosome_xp113_deletion_syndrome Chromosome Xp11.3 Deletion Syndrome DELXP11.3 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 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 MONDO:0008678 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 MONDO:0005835 limb-girdle muscular dystrophy limb_girdle_muscular_dystrophy Limb-Girdle Muscular Dystrophy LMNA MONDO:0016971 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid MLLT10 MONDO:0018874 mitochondrial myopathy mitochondrial_myopathy Mitochondrial Myopathy MT-TW MONDO:0009637 albinism albinism Albinism TYR leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid NUP214 MONDO:0018874 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy MYH7 MONDO:0005045 muscular dystrophy muscular_dystrophy Muscular Dystrophy LMNA MONDO:0020121 intestinal pseudo-obstruction intestinal_pseudo_obstruction Intestinal Pseudo-Obstruction CLMP MONDO:0002803 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid NSD3 MONDO:0018874 thyroid cancer thyroid_cancer Thyroid Cancer RET MONDO:0015075 thyroid cancer thyroid_cancer Thyroid Cancer HRAS MONDO:0015075 glioblastoma glioblastoma Glioblastoma PTEN MONDO:0018177 thyrotoxic periodic paralysis thyrotoxic_periodic_paralysis Thyrotoxic Periodic Paralysis KCNJ18 lynch syndrome lynch_syndrome Lynch Syndrome MSH2 MONDO:0005835 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 MONDO:0008785 arthrogryposis, distal, type 1a arthrogryposis_distal_type_1a Arthrogryposis, Distal, Type 1a MYBPC1 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome ICR1 MONDO:0007534 branchiootorenal syndrome 1 branchiootorenal_syndrome_1 Branchiootorenal Syndrome 1 SIX1 cardiomyopathy, familial hypertrophic, 1 cardiomyopathy_familial_hypertrophic_1 Cardiomyopathy, Familial Hypertrophic, 1 MYH6 MONDO:0008647 charcot-marie-tooth disease, axonal, type 2b charcot_marie_tooth_disease_axonal_type_2b Charcot-Marie-Tooth Disease, Axonal, Type 2b CMT2B MONDO:0010949 chromosome 11p13 deletion syndrome, distal chromosome_11p13_deletion_syndrome_distal Chromosome 11p13 Deletion Syndrome, Distal DEL11P13 chromosome 17p13.3, telomeric, duplication syndrome chromosome_17p133_telomeric_duplication_syndrome Chromosome 17p13.3, Telomeric, Duplication Syndrome SHFLD3 chromosome 19q13.11 deletion syndrome, distal chromosome_19q1311_deletion_syndrome_distal Chromosome 19q13.11 Deletion Syndrome, Distal DEL19Q13.11 chromosome 5q14.3 deletion syndrome, distal chromosome_5q143_deletion_syndrome_distal Chromosome 5q14.3 Deletion Syndrome, Distal PVNH5 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 MONDO:0010779 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 MONDO:0007110 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 MONDO:0005500 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 MONDO:0013166 homozygous 11p15-p14 deletion syndrome homozygous_11p15_p14_deletion_syndrome Homozygous 11p15-P14 Deletion Syndrome DEL11P15P14 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 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 MONDO:0006065 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 MONDO:0018874 leukodystrophy, hypomyelinating, 17 leukodystrophy_hypomyelinating_17 Leukodystrophy, Hypomyelinating, 17 AIMP2 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 MONDO:0009068 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TL1 MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TL2 MONDO:0004069 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 MONDO:0009364 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 MONDO:0009364 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 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 MONDO:0012204 pseudohypoaldosteronism, type iie pseudohypoaldosteronism_type_iie_2 Pseudohypoaldosteronism, Type Iie PIEZO2 MONDO:0013782 rrm2b-related mitochondrial dna depletion syndrome rrm2b_related_mitochondrial_dna_depletion_syndrome Rrm2b-Related Mitochondrial Dna Depletion Syndrome RRM2B MONDO:0012792 saccharopinuria saccharopinuria Saccharopinuria AASS MONDO:0010005 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 MONDO:0011835 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 MONDO:0011801 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 MONDO:0010408 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 MONDO:0019609 niemann-pick disease niemann_pick_disease Niemann-Pick Disease SMPD1 MONDO:0001982 lynch syndrome lynch_syndrome Lynch Syndrome MSH6 MONDO:0005835 tuberous sclerosis tuberous_sclerosis Tuberous Sclerosis TSC1 MONDO:0001734 ovarian cancer ovarian_cancer Ovarian Cancer BRCA2 MONDO:0008170 squamous cell carcinoma squamous_cell_carcinoma Squamous Cell Carcinoma TP53 MONDO:0005096 homocystinuria homocystinuria Homocystinuria CBS MONDO:0004737 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy MYBPC3 MONDO:0005045 primary hyperoxaluria primary_hyperoxaluria Primary Hyperoxaluria GRHPR MONDO:0002474 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa C8orf37 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PDE6G MONDO:0019200 thyroid cancer thyroid_cancer Thyroid Cancer NRAS MONDO:0015075 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RBP3 MONDO:0019200 colorectal cancer colorectal_cancer Colorectal Cancer HRAS MONDO:0005575 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis PTPN22 MONDO:0008383 severe congenital neutropenia severe_congenital_neutropenia Severe Congenital Neutropenia CSF3R MONDO:0018542 muscular dystrophy muscular_dystrophy Muscular Dystrophy DMD MONDO:0020121 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis TPP1 MONDO:0016295 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis PPT1 MONDO:0016295 pancreatic cancer pancreatic_cancer Pancreatic Cancer BRCA1 MONDO:0005192 spinal muscular atrophy spinal_muscular_atrophy Spinal Muscular Atrophy SMN1 MONDO:0001516 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial PCSK9 MONDO:0005439 pendred syndrome pendred_syndrome Pendred Syndrome KCNJ10 MONDO:0010134 glycogen storage disease glycogen_storage_disease Glycogen Storage Disease GAA MONDO:0002412 intrahepatic cholestasis intrahepatic_cholestasis Intrahepatic Cholestasis ABCB11 MONDO:0019072 squamous cell carcinoma squamous_cell_carcinoma Squamous Cell Carcinoma HRAS MONDO:0005096 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy TNNI3 MONDO:0005045 glioblastoma glioblastoma Glioblastoma EGFR MONDO:0018177 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa LRAT MONDO:0019200 albinism albinism Albinism TYRP1 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung RB1 MONDO:0008433 erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia_variabilis_et_progressiva_1 Erythrokeratodermia Variabilis Et Progressiva 1 GJB4 MONDO:0017851 multiple endocrine neoplasia multiple_endocrine_neoplasia Multiple Endocrine Neoplasia RET glycogen storage disease glycogen_storage_disease Glycogen Storage Disease PYGM MONDO:0002412 endometrial cancer endometrial_cancer Endometrial Cancer KRAS MONDO:0002447 restrictive cardiomyopathy restrictive_cardiomyopathy Restrictive Cardiomyopathy TNNI3 MONDO:0005201 aplastic anemia aplastic_anemia Aplastic Anemia TERC MONDO:0015909 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ARL6 MONDO:0019200 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome NRAS MONDO:0018881 colorectal cancer colorectal_cancer Colorectal Cancer MUTYH MONDO:0005575 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MPZ MONDO:0015626 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis CLN5 MONDO:0016295 intrahepatic cholestasis intrahepatic_cholestasis Intrahepatic Cholestasis ABCB4 MONDO:0019072 centronuclear myopathy centronuclear_myopathy Centronuclear Myopathy DNM2 MONDO:0018947 diabetes mellitus diabetes_mellitus Diabetes Mellitus KCNJ11 MONDO:0005015 esophageal cancer esophageal_cancer Esophageal Cancer TP53 MONDO:0007576 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease GDAP1 MONDO:0015626 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis CLN3 MONDO:0016295 muscular dystrophy muscular_dystrophy Muscular Dystrophy POMT2 MONDO:0020121 ectodermal dysplasia ectodermal_dysplasia Ectodermal Dysplasia EDA charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MFN2 MONDO:0015626 lung cancer lung_cancer Lung Cancer PTEN MONDO:0005233 glioblastoma glioblastoma Glioblastoma TP53 MONDO:0018177 ectodermal dysplasia ectodermal_dysplasia Ectodermal Dysplasia EDAR lung cancer lung_cancer Lung Cancer MAP2K1 MONDO:0005233 muscular dystrophy muscular_dystrophy Muscular Dystrophy FKRP MONDO:0020121 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome CHRNE MONDO:0018940 glioblastoma glioblastoma Glioblastoma PIK3CA MONDO:0018177 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes TMEM127 MONDO:0017366 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease KIF1B MONDO:0015626 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot GDF1 MONDO:0008542 dystonia dystonia Dystonia TOR1A MONDO:0003441 kabuki syndrome 1 kabuki_syndrome_1 Kabuki Syndrome 1 KDM6A MONDO:0016512 waldenstrom macroglobulinemia waldenstrom_macroglobulinemia Waldenstrom Macroglobulinemia MYD88 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease TRPV4 MONDO:0015626 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion TPM2 MONDO:0009711 malignant hyperthermia susceptibility malignant_hyperthermia_susceptibility Malignant Hyperthermia Susceptibility RYR1 osteopoikilosis osteopoikilosis Osteopoikilosis LEMD3 MONDO:0001414 familial acute necrotizing encephalopathy familial_acute_necrotizing_encephalopathy Familial Acute Necrotizing Encephalopathy RANBP2 MONDO:0011953 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease LMNA MONDO:0015626 gillespie syndrome gillespie_syndrome Gillespie Syndrome PAX6 medulloblastoma medulloblastoma Medulloblastoma TP53 MONDO:0007959 colorectal cancer colorectal_cancer Colorectal Cancer PTEN MONDO:0005575 glioblastoma glioblastoma Glioblastoma MTOR MONDO:0018177 adenoid cystic carcinoma adenoid_cystic_carcinoma Adenoid Cystic Carcinoma TP53 MONDO:0003175 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy MYL3 MONDO:0005045 erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia_variabilis_et_progressiva_1 Erythrokeratodermia Variabilis Et Progressiva 1 GJA1 MONDO:0017851 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease HSPB1 MONDO:0015626 myofibrillar myopathy myofibrillar_myopathy Myofibrillar Myopathy DES thrombocytopenia thrombocytopenia Thrombocytopenia ETV6 MONDO:0002049 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome PALB2 MONDO:0003582 myopathy myopathy Myopathy RYR1 MONDO:0005336 myopathy myopathy Myopathy COL6A1 MONDO:0005336 severe combined immunodeficiency severe_combined_immunodeficiency Severe Combined Immunodeficiency IL7R MONDO:0015974 myopathy myopathy Myopathy COL6A2 MONDO:0005336 morquio syndrome morquio_syndrome Morquio Syndrome GALNS MONDO:0009659 febrile seizures febrile_seizures Febrile Seizures SCN1A congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome CHAT MONDO:0018940 myopathy myopathy Myopathy COL6A3 MONDO:0005336 brain cancer brain_cancer Brain Cancer PTEN MONDO:0001657 colorectal cancer colorectal_cancer Colorectal Cancer MAP2K1 MONDO:0005575 lung cancer lung_cancer Lung Cancer NRAS MONDO:0005233 breast cancer breast_cancer Breast Cancer MTOR MONDO:0004989 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness GJB2 MONDO:0019497 carney triad carney_triad Carney Triad SDHC MONDO:0011424 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease IGHMBP2 MONDO:0015626 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy DYNC2H1 MONDO:0018770 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease SH3TC2 MONDO:0015626 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome RAPSN MONDO:0018940 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial APOB MONDO:0005439 endometrial cancer endometrial_cancer Endometrial Cancer FGFR2 MONDO:0002447 ovarian cancer ovarian_cancer Ovarian Cancer KRAS MONDO:0008170 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma TP53 MONDO:0006485 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma TP53 MONDO:0005097 intervertebral disc disease intervertebral_disc_disease Intervertebral Disc Disease COL9A2 hemochromatosis, type 1 hemochromatosis_type_1_2 Hemochromatosis, Type 1 HAMP MONDO:0006507 dysfibrinogenemia dysfibrinogenemia Dysfibrinogenemia FGA charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease HSPB8 MONDO:0015626 hemophagocytic lymphohistiocytosis hemophagocytic_lymphohistiocytosis Hemophagocytic Lymphohistiocytosis UNC13D MONDO:0015540 breast cancer breast_cancer Breast Cancer HRAS MONDO:0004989 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CPLANE1 MONDO:0008944 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy TPM1 MONDO:0005045 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy IFT80 MONDO:0018770 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma PIK3CA MONDO:0006485 pineoblastoma pineoblastoma Pineoblastoma DICER1 MONDO:0016722 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma PIK3CA MONDO:0005097 primary hyperparathyroidism primary_hyperparathyroidism Primary Hyperparathyroidism MEN1 MONDO:0010837 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in PMM2 MONDO:0015286 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome DOK7 MONDO:0018940 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CEP41 MONDO:0008944 glucose transporter type 1 deficiency syndrome glucose_transporter_type_1_deficiency_syndrome Glucose Transporter Type 1 Deficiency Syndrome SLC2A1 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma PTEN MONDO:0006485 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma TP53 MONDO:0005611 dysferlinopathy dysferlinopathy Dysferlinopathy DYSF MONDO:0016145 ovarian cancer ovarian_cancer Ovarian Cancer PTEN MONDO:0008170 coenzyme q10 deficiency disease coenzyme_q10_deficiency_disease Coenzyme Q10 Deficiency Disease COQ2 MONDO:0018151 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome AGRN MONDO:0018940 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 EGFR MONDO:0005061 pik3ca-related overgrowth spectrum pik3ca_related_overgrowth_spectrum Pik3ca-Related Overgrowth Spectrum PIK3CA glucosephosphate dehydrogenase deficiency glucosephosphate_dehydrogenase_deficiency Glucosephosphate Dehydrogenase Deficiency G6PD MONDO:0005775 t-cell prolymphocytic leukemia t_cell_prolymphocytic_leukemia T-Cell Prolymphocytic Leukemia ATM MONDO:0019468 hemolytic anemia hemolytic_anemia Hemolytic Anemia HBB MONDO:0003664 ovarian cancer ovarian_cancer Ovarian Cancer BRAF MONDO:0008170 cryptogenic cirrhosis cryptogenic_cirrhosis Cryptogenic Cirrhosis KRT8 limb-girdle muscular dystrophy limb_girdle_muscular_dystrophy Limb-Girdle Muscular Dystrophy FKRP MONDO:0016971 pseudohermaphroditism pseudohermaphroditism Pseudohermaphroditism LHCGR MONDO:0005518 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders TWNK MONDO:0004069 ovarian cancer ovarian_cancer Ovarian Cancer BRIP1 MONDO:0008170 microphthalmia microphthalmia Microphthalmia PAX6 MONDO:0021129 brain cancer brain_cancer Brain Cancer TP53 MONDO:0001657 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness MYO15A MONDO:0019497 cockayne syndrome cockayne_syndrome Cockayne Syndrome ERCC1 MONDO:0016006 ovarian epithelial cancer ovarian_epithelial_cancer Ovarian Epithelial Cancer PIK3CA hemolytic anemia hemolytic_anemia Hemolytic Anemia SPTB MONDO:0003664 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck TP53 MONDO:0010150 myotonia myotonia Myotonia CLCN1 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma BRAF MONDO:0005097 combined pituitary hormone deficiency combined_pituitary_hormone_deficiency Combined Pituitary Hormone Deficiency PROP1 hemochromatosis, type 1 hemochromatosis_type_1_2 Hemochromatosis, Type 1 TFR2 MONDO:0006507 muscular dystrophy muscular_dystrophy Muscular Dystrophy CAPN3 MONDO:0020121 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 HRAS MONDO:0005061 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness TMC1 MONDO:0019497 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 MONDO:0013127 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis CLN6 MONDO:0016295 myofibrillar myopathy myofibrillar_myopathy Myofibrillar Myopathy LDB3 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy WDR35 MONDO:0018770 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 TP53 MONDO:0005061 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness TMPRSS3 MONDO:0019497 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome CHEK2 MONDO:0003582 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome BARD1 MONDO:0003582 hereditary breast ovarian cancer syndrome hereditary_breast_ovarian_cancer_syndrome Hereditary Breast Ovarian Cancer Syndrome BRIP1 MONDO:0003582 microcephaly microcephaly Microcephaly PQBP1 MONDO:0001149 microphthalmia, syndromic 1 microphthalmia_syndromic_1 Microphthalmia, Syndromic 1 BCOR MONDO:0010671 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid NRAS MONDO:0018874 thyroid cancer thyroid_cancer Thyroid Cancer KRAS MONDO:0015075 pancreas adenocarcinoma pancreas_adenocarcinoma Pancreas Adenocarcinoma SMAD4 MONDO:0006047 schindler disease schindler_disease Schindler Disease NAGA MONDO:0017779 glioblastoma glioblastoma Glioblastoma BRAF MONDO:0018177 hemochromatosis, type 1 hemochromatosis_type_1_2 Hemochromatosis, Type 1 HJV MONDO:0006507 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis CLN8 MONDO:0016295 skin melanoma skin_melanoma Skin Melanoma NRAS MONDO:0005012 neuronal ceroid lipofuscinosis neuronal_ceroid_lipofuscinosis_2 Neuronal Ceroid Lipofuscinosis DNAJC5 MONDO:0016295 ovarian serous cystadenocarcinoma ovarian_serous_cystadenocarcinoma Ovarian Serous Cystadenocarcinoma TP53 MONDO:0006046 glioblastoma glioblastoma Glioblastoma NRAS MONDO:0018177 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 ERBB2 MONDO:0005061 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome TP53 MONDO:0018881 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma HRAS MONDO:0005097 motor neuron disease motor_neuron_disease Motor Neuron Disease TARDBP MONDO:0020128 motor neuron disease motor_neuron_disease Motor Neuron Disease SOD1 MONDO:0020128 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma EGFR MONDO:0005097 primary hyperparathyroidism primary_hyperparathyroidism Primary Hyperparathyroidism PTH MONDO:0010837 rhizomelic chondrodysplasia punctata rhizomelic_chondrodysplasia_punctata Rhizomelic Chondrodysplasia Punctata PEX5 MONDO:0015776 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome ECHS1 MONDO:0009723 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome IDH2 MONDO:0018881 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset LRRK2 MONDO:0005180 medulloblastoma medulloblastoma Medulloblastoma SMO MONDO:0007959 mitochondrial complex iii deficiency mitochondrial_complex_iii_deficiency Mitochondrial Complex Iii Deficiency UQCRB MONDO:0015448 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease LRSAM1 MONDO:0015626 skin melanoma skin_melanoma Skin Melanoma BRAF MONDO:0005012 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome TREX1 MONDO:0018866 myopathy myopathy Myopathy TTN MONDO:0005336 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome SCN4A MONDO:0018940 parathyroid adenoma parathyroid_adenoma Parathyroid Adenoma CDC73 MONDO:0006890 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome RNASEH2B MONDO:0018866 ehlers-danlos syndrome, classic type ehlers_danlos_syndrome_classic_type Ehlers-Danlos Syndrome, Classic Type COL1A2 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 MONDO:0018770 breast-ovarian cancer, familial 1 breast_ovarian_cancer_familial_1_2 Breast-Ovarian Cancer, Familial 1 BRCA2 MONDO:0003582 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 spinal muscular atrophy spinal_muscular_atrophy Spinal Muscular Atrophy BICD2 MONDO:0001516 loeys-dietz syndrome 4 loeys_dietz_syndrome_4 Loeys-Dietz Syndrome 4 TGFB3 spinal muscular atrophy spinal_muscular_atrophy Spinal Muscular Atrophy DYNC1H1 MONDO:0001516 parathyroid adenoma parathyroid_adenoma Parathyroid Adenoma MEN1 MONDO:0006890 penis agenesis penis_agenesis Penis Agenesis SRD5A2 cockayne syndrome cockayne_syndrome Cockayne Syndrome ERCC4 MONDO:0016006 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 MYH7 MONDO:0007171 severe congenital neutropenia severe_congenital_neutropenia Severe Congenital Neutropenia JAGN1 MONDO:0018542 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young PDX1 MONDO:0018911 seizure disorder seizure_disorder Seizure Disorder SCN1A MONDO:0005027 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 DSP MONDO:0007171 pseudohermaphroditism pseudohermaphroditism Pseudohermaphroditism HSD17B3 MONDO:0005518 clear cell renal cell carcinoma clear_cell_renal_cell_carcinoma Clear Cell Renal Cell Carcinoma PBRM1 MONDO:0005005 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CEP290 MONDO:0008944 pituitary hormone deficiency, combined, 1 pituitary_hormone_deficiency_combined_1_2 Pituitary Hormone Deficiency, Combined, 1 HESX1 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RP9 MONDO:0019200 melanoma, cutaneous malignant 1 melanoma_cutaneous_malignant_1_2 Melanoma, Cutaneous Malignant 1 CDKN2A MONDO:0018961 ovarian serous cystadenocarcinoma ovarian_serous_cystadenocarcinoma Ovarian Serous Cystadenocarcinoma PIK3CA MONDO:0006046 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 MONDO:0007171 pancreas adenocarcinoma pancreas_adenocarcinoma Pancreas Adenocarcinoma HRAS MONDO:0006047 auriculocondylar syndrome 1 auriculocondylar_syndrome_1 Auriculocondylar Syndrome 1 PLCB4 MONDO:0011234 medulloblastoma medulloblastoma Medulloblastoma PIK3CA MONDO:0007959 ovarian serous cystadenocarcinoma ovarian_serous_cystadenocarcinoma Ovarian Serous Cystadenocarcinoma NRAS MONDO:0006046 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 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder GNB5 MONDO:0005302 hirschsprung disease ganglioneuroblastoma hirschsprung_disease_ganglioneuroblastoma Hirschsprung Disease Ganglioneuroblastoma PHOX2B focal epilepsy focal_epilepsy Focal Epilepsy SCN1A MONDO:0005384 seizure disorder seizure_disorder Seizure Disorder KCNQ2 MONDO:0005027 fundus dystrophy fundus_dystrophy Fundus Dystrophy ABCA4 MONDO:0019118 pancreas adenocarcinoma pancreas_adenocarcinoma Pancreas Adenocarcinoma TP53 MONDO:0006047 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma PIK3CA MONDO:0015459 aplastic anemia aplastic_anemia Aplastic Anemia TINF2 MONDO:0015909 mitochondrial encephalomyopathy mitochondrial_encephalomyopathy Mitochondrial Encephalomyopathy MT-CYB MONDO:0004675 cervical cancer cervical_cancer Cervical Cancer PIK3CA MONDO:0002974 centronuclear myopathy centronuclear_myopathy Centronuclear Myopathy MTM1 MONDO:0018947 adenoid cystic carcinoma adenoid_cystic_carcinoma Adenoid Cystic Carcinoma PIK3CA MONDO:0003175 myopathy myopathy Myopathy EMD MONDO:0005336 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 MONDO:0007665 hydrocephalus hydrocephalus Hydrocephalus MPDZ MONDO:0001150 suppression of tumorigenicity 12 suppression_of_tumorigenicity_12 Suppression of Tumorigenicity 12 PTEN MONDO:0005082 epilepsy, idiopathic generalized epilepsy_idiopathic_generalized Epilepsy, Idiopathic Generalized SCN1A MONDO:0005579 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma SMAD4 MONDO:0005036 spinal muscular atrophy, type i spinal_muscular_atrophy_type_i Spinal Muscular Atrophy, Type I IGHMBP2 MONDO:0009669 cerebral creatine deficiency syndrome cerebral_creatine_deficiency_syndrome Cerebral Creatine Deficiency Syndrome GAMT MONDO:0000456 normokalemic periodic paralysis normokalemic_periodic_paralysis Normokalemic Periodic Paralysis SCN4A colorectal cancer colorectal_cancer Colorectal Cancer PPARG MONDO:0005575 esophageal cancer esophageal_cancer Esophageal Cancer PIK3CA MONDO:0007576 cerebral palsy cerebral_palsy Cerebral Palsy ADD3 MONDO:0006497 hyper ige syndrome hyper_ige_syndrome_2 Hyper Ige Syndrome STAT3 MONDO:0014353 trichothiodystrophy 1, photosensitive trichothiodystrophy_1_photosensitive Trichothiodystrophy 1, Photosensitive GTF2H5 MONDO:0002470 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PHYH MONDO:0019200 myofibrillar myopathy myofibrillar_myopathy Myofibrillar Myopathy MYOT gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma TP53 MONDO:0005036 cerebro-oculo-facio-skeletal syndrome cerebro_oculo_facio_skeletal_syndrome_cofs Cerebro-Oculo-Facio-Skeletal Syndrome ERCC2 MONDO:0008926 restrictive cardiomyopathy restrictive_cardiomyopathy Restrictive Cardiomyopathy MYH7 MONDO:0005201 myopathy myopathy Myopathy SCN4A MONDO:0005336 ewing sarcoma ewing_sarcoma Ewing Sarcoma ABCC6 MONDO:0005328 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MRPS34 MONDO:0009723 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease DYNC1H1 MONDO:0015626 cervical cancer cervical_cancer Cervical Cancer PTEN MONDO:0002974 glioblastoma glioblastoma Glioblastoma HRAS MONDO:0018177 breast cancer breast_cancer Breast Cancer CYP17A1 MONDO:0004989 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma PIK3CA MONDO:0005036 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic HRAS MONDO:0004948 myopathy myopathy Myopathy DMD MONDO:0005336 cardiac arrhythmia cardiac_arrhythmia Cardiac Arrhythmia TANGO2 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck PIK3CA MONDO:0010150 multiple mitochondrial dysfunctions syndrome multiple_mitochondrial_dysfunctions_syndrome Multiple Mitochondrial Dysfunctions Syndrome ISCA1 MONDO:0033282 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease AARS MONDO:0015626 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma KRAS MONDO:0005097 cervical cancer cervical_cancer Cervical Cancer HRAS MONDO:0002974 megakaryocytic leukemia megakaryocytic_leukemia Megakaryocytic Leukemia GATA1 MONDO:0018872 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RP2 MONDO:0019200 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma PTEN MONDO:0005036 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 PIK3CA MONDO:0005061 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 BRAF MONDO:0005061 lynch syndrome lynch_syndrome Lynch Syndrome EPCAM MONDO:0005835 carney triad carney_triad Carney Triad SDHB MONDO:0011424 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a BRCA1 MONDO:0019391 generalized epilepsy with febrile seizures plus generalized_epilepsy_with_febrile_seizures_plus Generalized Epilepsy with Febrile Seizures Plus SCN1B MONDO:0018214 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma HRAS MONDO:0005036 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy WDR19 MONDO:0018770 muscular dystrophy muscular_dystrophy Muscular Dystrophy GMPPB MONDO:0020121 cervical cancer cervical_cancer Cervical Cancer TP53 MONDO:0002974 skin disease skin_disease Skin Disease COL7A1 MONDO:0005093 skin disease skin_disease Skin Disease FLG MONDO:0005093 myopathy myopathy Myopathy ANO5 MONDO:0005336 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy WDR60 MONDO:0018770 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RPGRIP1 MONDO:0019200 split-hand/foot malformation 1 split_hand_foot_malformation_1_3 Split-Hand/foot Malformation 1 DLX5 MONDO:0008464 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy WDR34 MONDO:0018770 chromophobe renal cell carcinoma chromophobe_renal_cell_carcinoma Chromophobe Renal Cell Carcinoma FLCN MONDO:0017885 paroxysmal nocturnal hemoglobinuria paroxysmal_nocturnal_hemoglobinuria Paroxysmal Nocturnal Hemoglobinuria PIGA MONDO:0100244 cleft palate, isolated cleft_palate_isolated Cleft Palate, Isolated SATB2 MONDO:0016064 myopathy myopathy Myopathy DNM2 MONDO:0005336 lung cancer lung_cancer Lung Cancer DDR2 MONDO:0005233 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS8 MONDO:0009640 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-ATP6 MONDO:0004069 colorectal cancer colorectal_cancer Colorectal Cancer RAF1 MONDO:0005575 xeroderma pigmentosum, variant type xeroderma_pigmentosum_variant_type Xeroderma Pigmentosum, Variant Type ERCC5 MONDO:0010214 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 SMAD4 MONDO:0005061 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction TTN MONDO:0018901 myopathy myopathy Myopathy GAA MONDO:0005336 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder MECP2 MONDO:0005302 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome EOGT MONDO:0007034 breast adenocarcinoma breast_adenocarcinoma Breast Adenocarcinoma PIK3CA MONDO:0004988 polycystic liver disease polycystic_liver_disease Polycystic Liver Disease PRKCSH MONDO:0000447 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid IDH1 MONDO:0018874 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid IDH2 MONDO:0018874 medulloblastoma medulloblastoma Medulloblastoma FGFR1 MONDO:0007959 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 TNNI3 MONDO:0007171 chromophobe renal cell carcinoma chromophobe_renal_cell_carcinoma Chromophobe Renal Cell Carcinoma HNF1B MONDO:0017885 hypertrichosis hypertrichosis Hypertrichosis ARID1B MONDO:0019280 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young PAX4 MONDO:0018911 medulloblastoma medulloblastoma Medulloblastoma NRAS MONDO:0007959 skin melanoma skin_melanoma Skin Melanoma GNAQ MONDO:0005012 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 TNNT2 MONDO:0007171 perrault syndrome perrault_syndrome Perrault Syndrome SGO2 MONDO:0017312 colorectal cancer colorectal_cancer Colorectal Cancer BUB1 MONDO:0005575 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid TP53 MONDO:0018874 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma PIK3CA MONDO:0005611 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness OTOA MONDO:0019497 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness WFS1 MONDO:0019497 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa BBS1 MONDO:0019200 primary hyperparathyroidism primary_hyperparathyroidism Primary Hyperparathyroidism CDKN1B MONDO:0010837 fundus dystrophy fundus_dystrophy Fundus Dystrophy LCA5 MONDO:0019118 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid HRAS MONDO:0018874 myeloma, multiple myeloma_multiple Myeloma, Multiple TP53 MONDO:0009693 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness LOXHD1 MONDO:0019497 myeloma, multiple myeloma_multiple Myeloma, Multiple HRAS MONDO:0009693 squamous cell carcinoma squamous_cell_carcinoma Squamous Cell Carcinoma BRAF MONDO:0005096 familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer APC MONDO:0023113 skin melanoma skin_melanoma Skin Melanoma KIT MONDO:0005012 breast cancer breast_cancer Breast Cancer SMAD4 MONDO:0004989 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung PIK3CA MONDO:0008433 brain cancer brain_cancer Brain Cancer PIK3CA MONDO:0001657 ptosis ptosis Ptosis RYR1 MONDO:0000728 microcephaly microcephaly Microcephaly DYRK1A MONDO:0001149 ewing sarcoma ewing_sarcoma Ewing Sarcoma VPS13B MONDO:0005328 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot NOTCH1 MONDO:0008542 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MT-CO3 MONDO:0009723 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma FGFR2 MONDO:0005097 perrault syndrome perrault_syndrome Perrault Syndrome CLDN14 MONDO:0017312 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma FGFR3 MONDO:0005097 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency SURF1 MONDO:0009068 stroke, ischemic stroke_ischemic Stroke, Ischemic NOTCH3 MONDO:0002679 diaphragmatic hernia, congenital diaphragmatic_hernia_congenital Diaphragmatic Hernia, Congenital GATA6 MONDO:0005711 fundus dystrophy fundus_dystrophy Fundus Dystrophy USH2A MONDO:0019118 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PANK2 MONDO:0019200 esophageal cancer esophageal_cancer Esophageal Cancer SMAD4 MONDO:0007576 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck HRAS MONDO:0010150 myopathy myopathy Myopathy TRIM32 MONDO:0005336 myeloma, multiple myeloma_multiple Myeloma, Multiple NRAS MONDO:0009693 wiskott-aldrich syndrome wiskott_aldrich_syndrome Wiskott-Aldrich Syndrome WIPF1 MONDO:0010518 thyroid carcinoma, familial medullary thyroid_carcinoma_familial_medullary Thyroid Carcinoma, Familial Medullary MEN1 MONDO:0015277 dystonia dystonia Dystonia C19orf12 MONDO:0003441 cryopyrin-associated periodic syndrome cryopyrin_associated_periodic_syndrome Cryopyrin-Associated Periodic Syndrome NLRP3 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 CDK4 MONDO:0005061 genetic prion diseases genetic_prion_diseases Genetic Prion Diseases PRNP xeroderma pigmentosum, variant type xeroderma_pigmentosum_variant_type Xeroderma Pigmentosum, Variant Type XPC MONDO:0010214 myeloma, multiple myeloma_multiple Myeloma, Multiple CDK4 MONDO:0009693 microcephaly microcephaly Microcephaly SLC2A1 MONDO:0001149 cryptophthalmos cryptophthalmos Cryptophthalmos FREM2 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 PTEN MONDO:0017884 niemann-pick disease, type c1 niemann_pick_disease_type_c1_2 Niemann-Pick Disease, Type C1 NPC2 MONDO:0009757 suppression of tumorigenicity 12 suppression_of_tumorigenicity_12 Suppression of Tumorigenicity 12 TP53 MONDO:0005082 pancreas adenocarcinoma pancreas_adenocarcinoma Pancreas Adenocarcinoma PIK3CA MONDO:0006047 strabismus strabismus Strabismus NALCN MONDO:0003432 skin melanoma skin_melanoma Skin Melanoma MAP2K1 MONDO:0005012 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial NRAS MONDO:0018908 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma PTEN MONDO:0005097 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic BRAF MONDO:0004948 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung PTEN MONDO:0008433 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 MONDO:0005061 legius syndrome legius_syndrome Legius Syndrome NF1 atrial heart septal defect atrial_heart_septal_defect Atrial Heart Septal Defect NKX2-5 MONDO:0006664 acquired idiopathic sideroblastic anemia acquired_idiopathic_sideroblastic_anemia Acquired Idiopathic Sideroblastic Anemia MT-CO1 MONDO:0019157 adenoid cystic carcinoma adenoid_cystic_carcinoma Adenoid Cystic Carcinoma HRAS MONDO:0003175 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders SLC25A4 MONDO:0004069 cardiac arrhythmia cardiac_arrhythmia Cardiac Arrhythmia KCNQ1 monogenic diabetes monogenic_diabetes Monogenic Diabetes GCK MONDO:0015967 spastic paraparesis spastic_paraparesis Spastic Paraparesis SPAST MONDO:0008438 cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome NIPBL MONDO:0016033 goldmann-favre syndrome goldmann_favre_syndrome Goldmann-Favre Syndrome NR2E3 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa IMPDH1 MONDO:0019200 monogenic diabetes monogenic_diabetes Monogenic Diabetes HNF1A MONDO:0015967 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic ETV6 MONDO:0013108 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 MONDO:0016293 hyper ige syndrome hyper_ige_syndrome_2 Hyper Ige Syndrome PGM3 MONDO:0014353 carney triad carney_triad Carney Triad SDHA MONDO:0011424 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic FLT3 MONDO:0013108 proteus-like syndrome proteus_like_syndrome Proteus-Like Syndrome PTEN MONDO:0017571 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid JAK2 MONDO:0011996 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness COCH MONDO:0019497 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia C12orf57 MONDO:0000170 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRPF3 MONDO:0019200 ewing sarcoma ewing_sarcoma Ewing Sarcoma FLI1 MONDO:0005328 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy PTPN11 MONDO:0005045 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy IFT140 MONDO:0018770 lymphoma, non-hodgkin, familial lymphoma_non_hodgkin_familial Lymphoma, Non-Hodgkin, Familial TP53 MONDO:0018908 trichothiodystrophy 1, photosensitive trichothiodystrophy_1_photosensitive Trichothiodystrophy 1, Photosensitive MPLKIP MONDO:0002470 alzheimer disease alzheimer_disease Alzheimer Disease MT-ND1 MONDO:0100087 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 MONDO:0013127 cardiac arrest cardiac_arrest Cardiac Arrest PLN MONDO:0000745 premature ovarian failure 1 premature_ovarian_failure_1 Premature Ovarian Failure 1 MCM9 MONDO:0005387 myeloma, multiple myeloma_multiple Myeloma, Multiple FGFR3 MONDO:0009693 hypertelorism hypertelorism Hypertelorism EFNB1 MONDO:0007778 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness TRIOBP MONDO:0019497 colorectal cancer colorectal_cancer Colorectal Cancer BRCA2 MONDO:0005575 adrenocortical carcinoma, hereditary adrenocortical_carcinoma_hereditary Adrenocortical Carcinoma, Hereditary BRAF MONDO:0006639 adrenocortical carcinoma, hereditary adrenocortical_carcinoma_hereditary Adrenocortical Carcinoma, Hereditary NRAS MONDO:0006639 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 MONDO:0007568 bap1 tumor predisposition syndrome bap1_tumor_predisposition_syndrome Bap1 Tumor Predisposition Syndrome PALB2 MONDO:0013692 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma HRAS MONDO:0005611 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma NRAS MONDO:0005611 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma BRAF MONDO:0005611 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma MAP2K1 MONDO:0005611 brain cancer brain_cancer Brain Cancer BRAF MONDO:0001657 brain cancer brain_cancer Brain Cancer NRAS MONDO:0001657 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 MONDO:0008647 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease PPT1 MONDO:0009744 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease TPP1 MONDO:0009744 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease CLN5 MONDO:0009744 chromosome 10q22.3-q23.2 deletion syndrome chromosome_10q223_q232_deletion_syndrome Chromosome 10q22.3-Q23.2 Deletion Syndrome BMPR1A colorectal cancer colorectal_cancer Colorectal Cancer IDH2 MONDO:0005575 congenital disorder of glycosylation, type ib congenital_disorder_of_glycosylation_type_ib Congenital Disorder of Glycosylation, Type Ib SERPINA1 MONDO:0011257 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma BRAF MONDO:0005036 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma NRAS MONDO:0005036 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 kagami-ogata syndrome kagami_ogata_syndrome Kagami-Ogata Syndrome MEG3 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic NRAS MONDO:0004948 melanoma, cutaneous malignant 1 melanoma_cutaneous_malignant_1_2 Melanoma, Cutaneous Malignant 1 STK11 MONDO:0018961 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 MONDO:0010789 myeloma, multiple myeloma_multiple Myeloma, Multiple BRAF MONDO:0009693 myeloma, multiple myeloma_multiple Myeloma, Multiple IDH2 MONDO:0009693 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 MONDO:0009711 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma NRAS MONDO:0015459 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness MYO15A MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness TMC1 MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness TMPRSS3 MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness WFS1 MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness LOXHD1 MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness OTOA MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness GJB2 MONDO:0019497 noonan syndrome 3 noonan_syndrome_3 Noonan Syndrome 3 SOS1 MONDO:0012371 noonan syndrome 3 noonan_syndrome_3 Noonan Syndrome 3 PTPN11 MONDO:0012371 rare adenocarcinoma of the breast rare_adenocarcinoma_of_the_breast Rare Adenocarcinoma of the Breast PIK3CA MONDO:0004988 rare isolated myopia rare_isolated_myopia Rare Isolated Myopia TYR MONDO:0012154 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 TP53 MONDO:0017884 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 NRAS MONDO:0017884 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 MTOR MONDO:0017884 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 PIK3CA MONDO:0017884 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 MONDO:0008831 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck BRAF MONDO:0010150 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck IDH2 MONDO:0010150 suppression of tumorigenicity 12 suppression_of_tumorigenicity_12 Suppression of Tumorigenicity 12 BRAF MONDO:0005082 suppression of tumorigenicity 12 suppression_of_tumorigenicity_12 Suppression of Tumorigenicity 12 PIK3CA MONDO:0005082 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 MONDO:0015356 zellweger spectrum disorder zellweger_spectrum_disorder Zellweger Spectrum Disorder PEX2 MONDO:0019609 zellweger spectrum disorder zellweger_spectrum_disorder Zellweger Spectrum Disorder PEX1 MONDO:0019609 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MARS MONDO:0015626 periventricular nodular heterotopia periventricular_nodular_heterotopia Periventricular Nodular Heterotopia FLNA MONDO:0020341 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness POU3F4 MONDO:0019497 neurilemmoma neurilemmoma Neurilemmoma SMARCB1 MONDO:0002546 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness GPR179 MONDO:0016293 mitochondrial encephalomyopathy mitochondrial_encephalomyopathy Mitochondrial Encephalomyopathy MT-TL1 MONDO:0004675 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness TECTA MONDO:0019497 microcephaly microcephaly Microcephaly VPS13B MONDO:0001149 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young GCK MONDO:0018911 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young HNF1A MONDO:0018911 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness MARVELD2 MONDO:0019497 cutis laxa cutis_laxa Cutis Laxa ABCC6 MONDO:0016175 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness NYX MONDO:0016293 deafness, autosomal recessive 12 deafness_autosomal_recessive_12 Deafness, Autosomal Recessive 12 GJB2 MONDO:0011067 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid ABL1 MONDO:0011996 ovarian serous cystadenocarcinoma ovarian_serous_cystadenocarcinoma Ovarian Serous Cystadenocarcinoma HRAS MONDO:0006046 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CA4 MONDO:0019200 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma PPP2R1A MONDO:0006485 bladder urothelial carcinoma bladder_urothelial_carcinoma Bladder Urothelial Carcinoma FGFR3 MONDO:0005611 colorectal cancer colorectal_cancer Colorectal Cancer MSH2 MONDO:0005575 ovarian cancer ovarian_cancer Ovarian Cancer PALB2 MONDO:0008170 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome MTFMT MONDO:0009723 colorectal cancer colorectal_cancer Colorectal Cancer MSH6 MONDO:0005575 squamous cell carcinoma squamous_cell_carcinoma Squamous Cell Carcinoma DDR2 MONDO:0005096 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis ABCA4 MONDO:0018998 hypophosphatemic rickets, x-linked recessive hypophosphatemic_rickets_x_linked_recessive Hypophosphatemic Rickets, X-Linked Recessive PHEX MONDO:0010358 kabuki syndrome 1 kabuki_syndrome_1 Kabuki Syndrome 1 KMT2A MONDO:0016512 hemophagocytic lymphohistiocytosis hemophagocytic_lymphohistiocytosis Hemophagocytic Lymphohistiocytosis STX11 MONDO:0015540 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis GUCY2D MONDO:0018998 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome HRAS MONDO:0018881 marden-walker syndrome marden_walker_syndrome Marden-Walker Syndrome FBN1 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis CRX MONDO:0018998 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 MONDO:0009008 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma HRAS MONDO:0006485 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 MONDO:0009008 chronic granulomatous disease chronic_granulomatous_disease Chronic Granulomatous Disease NCF2 MONDO:0018305 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 BRAF MONDO:0005034 hematuria, benign familial hematuria_benign_familial Hematuria, Benign Familial COL4A5 pyropoikilocytosis, hereditary pyropoikilocytosis_hereditary_2 Pyropoikilocytosis, Hereditary SPTB microcephaly microcephaly Microcephaly ANKLE2 MONDO:0001149 fryns microphthalmia syndrome fryns_microphthalmia_syndrome Fryns Microphthalmia Syndrome OTX2 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome RNASEH2C MONDO:0018866 ependymoma ependymoma Ependymoma MEN1 perrault syndrome perrault_syndrome Perrault Syndrome LARS2 MONDO:0017312 carney complex variant carney_complex_variant Carney Complex Variant PRKAR1A MONDO:0015285 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MT-ATP6 MONDO:0015626 cholestasis, progressive familial intrahepatic, 1 cholestasis_progressive_familial_intrahepatic_1_2 Cholestasis, Progressive Familial Intrahepatic, 1 NR1H4 MONDO:0008892 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis CLUAP1 MONDO:0018998 microcephaly microcephaly Microcephaly POGZ MONDO:0001149 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 MONDO:0008265 autoimmune lymphoproliferative syndrome autoimmune_lymphoproliferative_syndrome Autoimmune Lymphoproliferative Syndrome CASP10 MONDO:0017979 arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain ENG MONDO:0007154 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome RNASEH2A MONDO:0018866 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 MONDO:0008265 rrm2b-related mitochondrial disease rrm2b_related_mitochondrial_disease Rrm2b-Related Mitochondrial Disease RRM2B MONDO:0012792 esophageal cancer esophageal_cancer Esophageal Cancer EGFR MONDO:0007576 kcnq2-related disorders kcnq2_related_disorders Kcnq2-Related Disorders KCNQ2 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis RDH12 MONDO:0018998 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa IMPG2 MONDO:0019200 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia PML MONDO:0012883 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome SAMHD1 MONDO:0018866 duane retraction syndrome duane_retraction_syndrome Duane Retraction Syndrome CHN1 MONDO:0007473 deafness, autosomal recessive deafness_autosomal_recessive Deafness, Autosomal Recessive OTOF MONDO:0019588 arhinia choanal atresia microphthalmia arhinia_choanal_atresia_microphthalmia Arhinia Choanal Atresia Microphthalmia SMCHD1 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRPF31 MONDO:0019200 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 MONDO:0011527 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 schizophrenia schizophrenia Schizophrenia SETD1A MONDO:0005090 alzheimer disease type 1 alzheimer_disease_type_1 Alzheimer Disease Type 1 APP noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 SHOC2 MONDO:0018997 46,xy sex reversal 10 46xy_sex_reversal_10 46,xy Sex Reversal 10 SOX9 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 MONDO:0015609 diamond-blackfan anemia 15 with mandibulofacial dysostosis diamond_blackfan_anemia_15_with_mandibulofacial_dysostosis_2 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis RPS26 MONDO:0011639 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive SH3TC2 MONDO:0011527 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 MONDO:0016809 chronic intestinal pseudoobstruction chronic_intestinal_pseudoobstruction Chronic Intestinal Pseudoobstruction ACTG2 MONDO:0017574 yemenite deaf-blind hypopigmentation syndrome yemenite_deaf_blind_hypopigmentation_syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome ABCA4 MONDO:0011133 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 LMNA MONDO:0007171 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 MONDO:0010779 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis TULP1 MONDO:0018998 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 MONDO:0011639 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CC2D2A MONDO:0008944 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 MONDO:0019588 fundus dystrophy fundus_dystrophy Fundus Dystrophy RPE65 MONDO:0019118 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 LAMP2 MONDO:0007171 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 MONDO:0013127 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 MONDO:0011833 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 TTR MONDO:0007171 split-hand/foot malformation 1 split_hand_foot_malformation_1_3 Split-Hand/foot Malformation 1 MAP3K20 MONDO:0008464 duane syndrome type 2 duane_syndrome_type_2 Duane Syndrome Type 2 MAFB MONDO:0011444 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 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive SBF2 MONDO:0011527 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis LRAT MONDO:0018998 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TMEM216 MONDO:0008944 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness PDE6B MONDO:0016293 fundus dystrophy fundus_dystrophy Fundus Dystrophy CRB1 MONDO:0019118 cornelia de lange syndrome 1 cornelia_de_lange_syndrome_1 Cornelia De Lange Syndrome 1 KMT2A MONDO:0007387 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy SCN2A MONDO:0017385 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive FIG4 MONDO:0011527 craniosynostosis 1 craniosynostosis_1 Craniosynostosis 1 ERF duane syndrome type 3 duane_syndrome_type_3 Duane Syndrome Type 3 MAFB flnb-related disorders flnb_related_disorders Flnb-Related Disorders FLNB fundus dystrophy fundus_dystrophy Fundus Dystrophy RDH12 MONDO:0019118 zimmermann-laband syndrome 1 zimmermann_laband_syndrome_1 Zimmermann-Laband Syndrome 1 ATP6V1B2 MONDO:0024526 cd8 deficiency, familial cd8_deficiency_familial Cd8 Deficiency, Familial ZAP70 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 MONDO:0023113 weill-marchesani syndrome 1 weill_marchesani_syndrome_1 Weill-Marchesani Syndrome 1 LTBP2 myh9 related thrombocytopenia myh9_related_thrombocytopenia Myh9 Related Thrombocytopenia MYH9 MONDO:0015912 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive PRX MONDO:0011527 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive FGD4 MONDO:0011527 familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer MT-CO1 MONDO:0023113 heterochromia iridis heterochromia_iridis Heterochromia Iridis MITF hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness SF3B4 MONDO:0005365 keloid formation keloid_formation Keloid Formation ASAH1 nicolaides-baraitser syndrome nicolaides_baraitser_syndrome_2 Nicolaides-Baraitser Syndrome ARID1B MONDO:0011053 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 MONDO:0011527 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 MONDO:0008944 horseshoe kidney horseshoe_kidney Horseshoe Kidney GJB2 multiple acyl-coa dehydrogenase deficiency multiple_acyl_coa_dehydrogenase_deficiency Multiple Acyl-Coa Dehydrogenase Deficiency FLAD1 MONDO:0009282 pectus excavatum pectus_excavatum Pectus Excavatum FBN1 familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer MT-CYB MONDO:0023113 fundus dystrophy fundus_dystrophy Fundus Dystrophy CEP290 MONDO:0019118 dystonia dystonia Dystonia GNB1 MONDO:0003441 talipes equinovarus talipes_equinovarus Talipes Equinovarus RYR1 MONDO:0007342 fundus dystrophy fundus_dystrophy Fundus Dystrophy GUCY2D MONDO:0019118 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFA13 MONDO:0009640 cowden syndrome 1 cowden_syndrome_1 Cowden Syndrome 1 EGFR MONDO:0008021 myoglobinuria, recurrent myoglobinuria_recurrent_2 Myoglobinuria, Recurrent MT-CO1 MONDO:0010791 encephalocele encephalocele Encephalocele CC2D2A joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 MICALL2 MONDO:0008944 congenital leptin deficiency congenital_leptin_deficiency Congenital Leptin Deficiency LEP karak syndrome karak_syndrome Karak Syndrome PLA2G6 hyperparathyroidism 1 hyperparathyroidism_1 Hyperparathyroidism 1 MEN1 MONDO:0007767 familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer MT-ND4L MONDO:0023113 familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer PLA2G2A MONDO:0023113 oculoectodermal syndrome oculoectodermal_syndrome Oculoectodermal Syndrome CLUAP1 MONDO:0010854 pulmonary arteriovenous malformation pulmonary_arteriovenous_malformation Pulmonary Arteriovenous Malformation ENG seizure disorder seizure_disorder Seizure Disorder PNPO MONDO:0005027 fundus dystrophy fundus_dystrophy Fundus Dystrophy CDHR1 MONDO:0019118 exfoliative ichthyosis exfoliative_ichthyosis Exfoliative Ichthyosis KRT2 scn2a related disorders scn2a_related_disorders Scn2a Related Disorders SCN2A parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset MT-ND1 MONDO:0005180 seckel syndrome seckel_syndrome Seckel Syndrome ATR MONDO:0019342 ovarian cancer ovarian_cancer Ovarian Cancer RRAS2 MONDO:0008170 seizure disorder seizure_disorder Seizure Disorder CDKL5 MONDO:0005027 epicanthus epicanthus Epicanthus ATP1A3 epicanthus epicanthus Epicanthus TCF4 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS17 MONDO:0015253 polyposis, gastric polyposis_gastric Polyposis, Gastric APC yemenite deaf-blind hypopigmentation syndrome yemenite_deaf_blind_hypopigmentation_syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome RHO MONDO:0011133 seizure disorder seizure_disorder Seizure Disorder MECP2 MONDO:0005027 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes KCNQ3 MONDO:0007295 bladder cancer bladder_cancer Bladder Cancer TSC1 MONDO:0004986 hypothyroidism hypothyroidism Hypothyroidism RET MONDO:0005420 cataract cataract Cataract IARS2 MONDO:0005129 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFA10 MONDO:0009640 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes RBFOX1 MONDO:0007295 microphthalmia microphthalmia Microphthalmia RBP4 MONDO:0021129 ventricular fibrillation, paroxysmal familial, 1 ventricular_fibrillation_paroxysmal_familial_1 Ventricular Fibrillation, Paroxysmal Familial, 1 RYR2 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 MONDO:0005258 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness COL11A2 MONDO:0019497 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness KCNQ4 MONDO:0019497 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease DNAJB2 MONDO:0015626 cervical cancer cervical_cancer Cervical Cancer SMAD4 MONDO:0002974 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness GIPC3 MONDO:0019497 pancreatic cancer pancreatic_cancer Pancreatic Cancer ACVR1B MONDO:0005192 stargardt disease stargardt_disease Stargardt Disease PROM1 MONDO:0019353 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis CNGB3 MONDO:0018998 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-ND2 MONDO:0009640 cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome SMC1A MONDO:0016033 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa BBS10 MONDO:0019200 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis PDE6A MONDO:0018998 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness MYH9 MONDO:0019497 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young HNF4A MONDO:0018911 immune deficiency disease immune_deficiency_disease Immune Deficiency Disease ATM MONDO:0003778 microphthalmia microphthalmia Microphthalmia MFRP MONDO:0021129 diabetes mellitus diabetes_mellitus Diabetes Mellitus MEN1 MONDO:0005015 ovarian cancer ovarian_cancer Ovarian Cancer MIR429 MONDO:0008170 polycystic liver disease polycystic_liver_disease Polycystic Liver Disease SEC63 MONDO:0000447 focal epilepsy focal_epilepsy Focal Epilepsy CDKL5 MONDO:0005384 hydrocephalus hydrocephalus Hydrocephalus ARFGEF2 MONDO:0001150 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma HRAS MONDO:0015459 colorectal cancer colorectal_cancer Colorectal Cancer MIR203A MONDO:0005575 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma FGFR2 MONDO:0005036 severe congenital neutropenia severe_congenital_neutropenia Severe Congenital Neutropenia TCIRG1 MONDO:0018542 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid NRAS MONDO:0011996 endometrial cancer endometrial_cancer Endometrial Cancer MUTYH MONDO:0002447 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 GNAS MONDO:0011122 geleophysic dysplasia geleophysic_dysplasia Geleophysic Dysplasia ADAMTSL2 strabismus strabismus Strabismus TYR MONDO:0003432 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness DCDC2 MONDO:0019497 schizophrenia schizophrenia Schizophrenia MC4R MONDO:0005090 hypertrichosis hypertrichosis Hypertrichosis ASXL1 MONDO:0019280 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita TERT MONDO:0015780 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma FGFR1 MONDO:0005036 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness LRIT3 MONDO:0016293 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck SMAD4 MONDO:0010150 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome POMT2 MONDO:0000171 colorectal cancer colorectal_cancer Colorectal Cancer PTPN11 MONDO:0005575 dyschromatosis universalis hereditaria dyschromatosis_universalis_hereditaria Dyschromatosis Universalis Hereditaria ABCB6 MONDO:0000736 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome NOTCH1 MONDO:0007034 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita NOP10 MONDO:0015780 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation KCNQ1 MONDO:0018054 esophageal cancer esophageal_cancer Esophageal Cancer HRAS MONDO:0007576 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS26 MONDO:0015253 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness GNAT1 MONDO:0016293 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness OTOF MONDO:0019497 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-ND4 MONDO:0009640 clear cell renal cell carcinoma clear_cell_renal_cell_carcinoma Clear Cell Renal Cell Carcinoma OGG1 MONDO:0005005 spinocerebellar ataxia 32 spinocerebellar_ataxia_32 Spinocerebellar Ataxia 32 SCA32 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor BRAF MONDO:0011719 optic atrophy 2 optic_atrophy_2 Optic Atrophy 2 OPA2 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 RAF1 MONDO:0005061 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 MONDO:0016293 breast cancer breast_cancer Breast Cancer MIR21 MONDO:0004989 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder HIVEP1 MONDO:0005302 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder CDK20 MONDO:0005302 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder VPS13B MONDO:0005302 colorectal cancer colorectal_cancer Colorectal Cancer MIR21 MONDO:0005575 lung cancer lung_cancer Lung Cancer MIR21 MONDO:0005233 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young NEUROD1 MONDO:0018911 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young KLF11 MONDO:0018911 chronic granulomatous disease chronic_granulomatous_disease Chronic Granulomatous Disease NCF1 MONDO:0018305 gastric cancer gastric_cancer Gastric Cancer MIR21 MONDO:0004950 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome DOCK6 MONDO:0007034 breast cancer breast_cancer Breast Cancer MIR221 MONDO:0004989 glutathionuria glutathionuria Glutathionuria GGT1 MONDO:0009285 breast cancer breast_cancer Breast Cancer MIR155 MONDO:0004989 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young INS MONDO:0018911 blepharophimosis blepharophimosis Blepharophimosis ARID1B MONDO:0001008 breast cancer breast_cancer Breast Cancer MIR146A MONDO:0004989 growth hormone deficiency growth_hormone_deficiency Growth Hormone Deficiency ADNP nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness PJVK MONDO:0019497 deafness, autosomal recessive deafness_autosomal_recessive Deafness, Autosomal Recessive GJB3 MONDO:0019588 breast cancer breast_cancer Breast Cancer MIR222 MONDO:0004989 colorectal cancer colorectal_cancer Colorectal Cancer MIR145 MONDO:0005575 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR21 MONDO:0005192 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis PEX1 MONDO:0018998 colon adenocarcinoma colon_adenocarcinoma Colon Adenocarcinoma RAD54L MONDO:0015469 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot RET MONDO:0008542 colorectal cancer colorectal_cancer Colorectal Cancer MIR143 MONDO:0005575 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia ZBTB16 MONDO:0012883 aplastic anemia aplastic_anemia Aplastic Anemia RPL5 MONDO:0015909 breast cancer breast_cancer Breast Cancer MIR10B MONDO:0004989 cervical cancer cervical_cancer Cervical Cancer MIR21 MONDO:0002974 glioblastoma glioblastoma Glioblastoma MIR21 MONDO:0018177 ovarian cancer ovarian_cancer Ovarian Cancer MIR200C MONDO:0008170 strabismus strabismus Strabismus GNB1 MONDO:0003432 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness STRC MONDO:0019497 breast cancer breast_cancer Breast Cancer MIR205 MONDO:0004989 headache headache Headache NPC1 hypertrophic cardiomyopathy hypertrophic_cardiomyopathy Hypertrophic Cardiomyopathy PMPCA MONDO:0005045 uterine carcinosarcoma uterine_carcinosarcoma Uterine Carcinosarcoma FGFR2 MONDO:0006485 colorectal cancer colorectal_cancer Colorectal Cancer MIR31 MONDO:0005575 ovarian cancer ovarian_cancer Ovarian Cancer MIR200A MONDO:0008170 lung cancer lung_cancer Lung Cancer MIR145 MONDO:0005233 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness MYO6 MONDO:0019497 periventricular nodular heterotopia periventricular_nodular_heterotopia Periventricular Nodular Heterotopia ARFGEF2 MONDO:0020341 lung cancer lung_cancer Lung Cancer MIR205 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR126 MONDO:0005233 colorectal cancer colorectal_cancer Colorectal Cancer MIR34A MONDO:0005575 ewing sarcoma ewing_sarcoma Ewing Sarcoma CNGA3 MONDO:0005328 mantle cell lymphoma mantle_cell_lymphoma Mantle Cell Lymphoma CCND1 MONDO:0018876 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 SLC30A7 MONDO:0008944 esophageal cancer esophageal_cancer Esophageal Cancer MIR21 MONDO:0007576 alzheimer disease alzheimer_disease Alzheimer Disease MIR146A MONDO:0100087 ovarian cancer ovarian_cancer Ovarian Cancer MIR200B MONDO:0008170 aceruloplasminemia aceruloplasminemia Aceruloplasminemia SETX MONDO:0000437 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness GSDME MONDO:0019497 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 B9D2 MONDO:0008944 strabismus strabismus Strabismus POGZ MONDO:0003432 glioma glioma Glioma MIR21 tremor tremor Tremor C19orf12 mitochondrial encephalomyopathy mitochondrial_encephalomyopathy Mitochondrial Encephalomyopathy MT-TR MONDO:0004675 gastric cancer gastric_cancer Gastric Cancer MIR25 MONDO:0004950 microcephaly microcephaly Microcephaly SMARCAL1 MONDO:0001149 strabismus strabismus Strabismus DHX30 MONDO:0003432 gastric cancer gastric_cancer Gastric Cancer MIR221 MONDO:0004950 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome GNB1 MONDO:0018881 renal dysplasia renal_dysplasia Renal Dysplasia EBF3 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa COL18A1 MONDO:0019200 anosmia anosmia Anosmia SMCHD1 uv-sensitive syndrome uv_sensitive_syndrome Uv-Sensitive Syndrome UVSSA MONDO:0015797 lung cancer lung_cancer Lung Cancer MIR19A MONDO:0005233 microcephaly microcephaly Microcephaly DHX30 MONDO:0001149 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR155 MONDO:0005192 ewing sarcoma ewing_sarcoma Ewing Sarcoma RDH12 MONDO:0005328 bladder cancer bladder_cancer Bladder Cancer MIR21 MONDO:0004986 glioblastoma glioblastoma Glioblastoma MIR221 MONDO:0018177 breast adenocarcinoma breast_adenocarcinoma Breast Adenocarcinoma KRAS MONDO:0004988 lung cancer lung_cancer Lung Cancer MIR183 MONDO:0005233 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness RHO MONDO:0016293 glioblastoma glioblastoma Glioblastoma MIR222 MONDO:0018177 fundus dystrophy fundus_dystrophy Fundus Dystrophy BBS1 MONDO:0019118 hypertelorism hypertelorism Hypertelorism RET MONDO:0007778 skin melanoma skin_melanoma Skin Melanoma HRAS MONDO:0005012 ptosis ptosis Ptosis IGHMBP2 MONDO:0000728 bladder cancer bladder_cancer Bladder Cancer MIR221 MONDO:0004986 microcephaly microcephaly Microcephaly COL7A1 MONDO:0001149 strabismus strabismus Strabismus MPP4 MONDO:0003432 myoclonus myoclonus Myoclonus SLC2A1 polymicrogyria polymicrogyria Polymicrogyria EHMT1 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness GRXCR1 MONDO:0019497 hypothyroidism hypothyroidism Hypothyroidism CHD7 MONDO:0005420 hypothyroidism hypothyroidism Hypothyroidism GNB1 MONDO:0005420 hypothyroidism hypothyroidism Hypothyroidism ADNP MONDO:0005420 aceruloplasminemia aceruloplasminemia Aceruloplasminemia ATM MONDO:0000437 mitochondrial encephalomyopathy mitochondrial_encephalomyopathy Mitochondrial Encephalomyopathy MT-TW MONDO:0004675 glioblastoma glioblastoma Glioblastoma BCOR MONDO:0018177 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR10A MONDO:0005192 mitochondrial myopathy mitochondrial_myopathy Mitochondrial Myopathy MT-TM MONDO:0009637 familial colorectal cancer familial_colorectal_cancer Familial Colorectal Cancer GREM1 MONDO:0023113 fundus dystrophy fundus_dystrophy Fundus Dystrophy RPGR MONDO:0019118 brugada syndrome brugada_syndrome Brugada Syndrome GPD1L MONDO:0015263 microcephaly microcephaly Microcephaly ATP2B3 MONDO:0001149 microcephaly microcephaly Microcephaly MFN2 MONDO:0001149 microcephaly microcephaly Microcephaly HDAC8 MONDO:0001149 fundus dystrophy fundus_dystrophy Fundus Dystrophy VPS13B MONDO:0019118 fundus dystrophy fundus_dystrophy Fundus Dystrophy BBS10 MONDO:0019118 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma RAF1 MONDO:0005036 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders TOP3A MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders TMEM126B MONDO:0004069 fundus dystrophy fundus_dystrophy Fundus Dystrophy RS1 MONDO:0019118 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness USH2A MONDO:0019497 premature ovarian failure 1 premature_ovarian_failure_1 Premature Ovarian Failure 1 EIF2B2 MONDO:0005387 fundus dystrophy fundus_dystrophy Fundus Dystrophy BEST1 MONDO:0019118 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-CO2 MONDO:0004069 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 TTN MONDO:0007171 brugada syndrome brugada_syndrome Brugada Syndrome CACNB2 MONDO:0015263 fundus dystrophy fundus_dystrophy Fundus Dystrophy CERKL MONDO:0019118 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness CEACAM16 MONDO:0019497 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRPF8 MONDO:0019200 schizophrenia schizophrenia Schizophrenia MIR30E MONDO:0005090 mitochondrial myopathy mitochondrial_myopathy Mitochondrial Myopathy MT-TL2 MONDO:0009637 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy TRAF3IP1 MONDO:0018770 fundus dystrophy fundus_dystrophy Fundus Dystrophy BBS4 MONDO:0019118 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa FAM161A MONDO:0019200 fundus dystrophy fundus_dystrophy Fundus Dystrophy EYS MONDO:0019118 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa NRL MONDO:0019200 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL26 MONDO:0015253 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy EVC2 MONDO:0018770 brugada syndrome brugada_syndrome Brugada Syndrome SCN1B MONDO:0015263 fundus dystrophy fundus_dystrophy Fundus Dystrophy IQCB1 MONDO:0019118 fundus dystrophy fundus_dystrophy Fundus Dystrophy DRAM2 MONDO:0019118 premature ovarian failure 1 premature_ovarian_failure_1 Premature Ovarian Failure 1 SGO2 MONDO:0005387 cataract cataract Cataract RHO MONDO:0005129 fundus dystrophy fundus_dystrophy Fundus Dystrophy RGR MONDO:0019118 fundus dystrophy fundus_dystrophy Fundus Dystrophy PDE6B MONDO:0019118 aceruloplasminemia aceruloplasminemia Aceruloplasminemia NPC1 MONDO:0000437 ewing sarcoma ewing_sarcoma Ewing Sarcoma IMPG2 MONDO:0005328 fundus dystrophy fundus_dystrophy Fundus Dystrophy PRPH2 MONDO:0019118 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset VPS13C MONDO:0005180 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness OTOGL MONDO:0019497 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 KIAA0753 MONDO:0008944 microcephaly microcephaly Microcephaly NIPBL MONDO:0001149 advanced sleep phase syndrome advanced_sleep_phase_syndrome Advanced Sleep Phase Syndrome PER3 MONDO:0015609 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 C2CD3 MONDO:0008944 breast cancer breast_cancer Breast Cancer MIR206 MONDO:0004989 fundus dystrophy fundus_dystrophy Fundus Dystrophy PCARE MONDO:0019118 mitochondrial myopathy mitochondrial_myopathy Mitochondrial Myopathy MT-TA MONDO:0009637 fundus dystrophy fundus_dystrophy Fundus Dystrophy KCNV2 MONDO:0019118 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction MIPEP MONDO:0018901 mitochondrial encephalomyopathy mitochondrial_encephalomyopathy Mitochondrial Encephalomyopathy MT-TL2 MONDO:0004675 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes DEPDC5 MONDO:0007295 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCM MONDO:0019391 skin melanoma skin_melanoma Skin Melanoma PTEN MONDO:0005012 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia TSR2 MONDO:0015253 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis IMPDH1 MONDO:0018998 microphthalmia microphthalmia Microphthalmia TFAP2A MONDO:0021129 atypical teratoid rhabdoid tumor atypical_teratoid_rhabdoid_tumor Atypical Teratoid Rhabdoid Tumor TP53 MONDO:0020560 coloboma of macula coloboma_of_macula Coloboma of Macula YAP1 MONDO:0001476 microcephaly microcephaly Microcephaly SMC1A MONDO:0001149 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction NKX2-5 MONDO:0018901 cleft palate, isolated cleft_palate_isolated Cleft Palate, Isolated FLNA MONDO:0016064 porokeratosis porokeratosis Porokeratosis SLC17A9 MONDO:0006602 cleft palate, isolated cleft_palate_isolated Cleft Palate, Isolated NIPBL MONDO:0016064 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 PLN MONDO:0007171 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa KLHL7 MONDO:0019200 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 FGFR3 MONDO:0005061 aceruloplasminemia aceruloplasminemia Aceruloplasminemia MT-ATP6 MONDO:0000437 colorectal cancer colorectal_cancer Colorectal Cancer BCL10 MONDO:0005575 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis AHI1 MONDO:0018998 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset MIR133B MONDO:0005180 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck FGFR3 MONDO:0010150 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness KARS MONDO:0019497 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes CNTNAP2 MONDO:0007295 connective tissue disease connective_tissue_disease Connective Tissue Disease ACTA2 MONDO:0003900 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid DDX41 MONDO:0018874 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 IFT172 MONDO:0008944 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy LBR MONDO:0018770 breast cancer breast_cancer Breast Cancer MIR661 MONDO:0004989 coloboma of macula coloboma_of_macula Coloboma of Macula CYP1B1 MONDO:0001476 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 VHL MONDO:0017884 williams-beuren syndrome williams_beuren_syndrome Williams-Beuren Syndrome CYP24A1 MONDO:0008678 peripheral nervous system disease peripheral_nervous_system_disease Peripheral Nervous System Disease IARS2 MONDO:0003620 myeloma, multiple myeloma_multiple Myeloma, Multiple PTPN11 MONDO:0009693 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RGR MONDO:0019200 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SCN2A MONDO:0007295 seckel syndrome seckel_syndrome Seckel Syndrome RBBP8 MONDO:0019342 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes RBFOX3 MONDO:0007295 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa FSCN2 MONDO:0019200 nonsyndromic deafness nonsyndromic_deafness Nonsyndromic Deafness RDX MONDO:0019497 ptosis ptosis Ptosis SOS1 MONDO:0000728 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SEMA4A MONDO:0019200 perrault syndrome perrault_syndrome Perrault Syndrome HARS2 MONDO:0017312 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia NPM1 MONDO:0012883 generalized epilepsy with febrile seizures plus generalized_epilepsy_with_febrile_seizures_plus Generalized Epilepsy with Febrile Seizures Plus SCN1A MONDO:0018214 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 PRKN MONDO:0005061 ewing sarcoma ewing_sarcoma Ewing Sarcoma ETV1 MONDO:0005328 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome LARGE1 MONDO:0000171 cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome SMC3 MONDO:0016033 antenatal bartter syndrome antenatal_bartter_syndrome Antenatal Bartter Syndrome KCNJ1 autosomal dominant polycystic kidney disease autosomal_dominant_polycystic_kidney_disease Autosomal Dominant Polycystic Kidney Disease PKD1 MONDO:0004691 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness TRPM1 MONDO:0016293 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 MRPS22 MONDO:0009299 aceruloplasminemia aceruloplasminemia Aceruloplasminemia SLC2A1 MONDO:0000437 aceruloplasminemia aceruloplasminemia Aceruloplasminemia SURF1 MONDO:0000437 acute myeloblastic leukemia with maturation acute_myeloblastic_leukemia_with_maturation Acute Myeloblastic Leukemia with Maturation MIR181A1HG adenoid cystic carcinoma adenoid_cystic_carcinoma Adenoid Cystic Carcinoma JAK3 MONDO:0003175 adenoid cystic carcinoma adenoid_cystic_carcinoma Adenoid Cystic Carcinoma KRAS MONDO:0003175 adrenocortical carcinoma, hereditary adrenocortical_carcinoma_hereditary Adrenocortical Carcinoma, Hereditary PIK3CA MONDO:0006639 agammaglobulinemia 1, autosomal recessive agammaglobulinemia_1_autosomal_recessive Agammaglobulinemia 1, Autosomal Recessive BTK alzheimer disease alzheimer_disease Alzheimer Disease MIR106B MONDO:0100087 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 MONDO:0008766 angioedema, hereditary, type i angioedema_hereditary_type_i Angioedema, Hereditary, Type I F12 apnea, central sleep apnea_central_sleep Apnea, Central Sleep CHAT arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain SARS MONDO:0007154 arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain PITPNM3 MONDO:0007154 arteriovenous malformations of the brain arteriovenous_malformations_of_the_brain Arteriovenous Malformations of the Brain LEMD3 MONDO:0007154 arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis_renal_dysfunction_and_cholestasis_1 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 TSC1 MONDO:0017123 asphyxiating thoracic dystrophy asphyxiating_thoracic_dystrophy Asphyxiating Thoracic Dystrophy KIAA0753 MONDO:0018770 atp6v0a2-related cutis laxa atp6v0a2_related_cutis_laxa Atp6v0a2-Related Cutis Laxa ATP6V0A2 MONDO:0018163 atrial heart septal defect atrial_heart_septal_defect Atrial Heart Septal Defect RPL5 MONDO:0006664 atrial heart septal defect atrial_heart_septal_defect Atrial Heart Septal Defect DMD MONDO:0006664 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 SCN1B MONDO:0007171 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 ACTN2 MONDO:0007171 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 MIPEP MONDO:0007171 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder C12orf57 MONDO:0005302 attention deficit-hyperactivity disorder attention_deficit_hyperactivity_disorder_2 Attention Deficit-Hyperactivity Disorder SCAPER MONDO:0005302 autosomal recessive cutis laxa type iii autosomal_recessive_cutis_laxa_type_iii Autosomal Recessive Cutis Laxa Type Iii ALDH18A1 MONDO:0017569 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 MONDO:0013692 bap1 tumor predisposition syndrome bap1_tumor_predisposition_syndrome Bap1 Tumor Predisposition Syndrome PMS2 MONDO:0013692 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome COL7A1 MONDO:0007534 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome DMD MONDO:0007534 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome RYR1 MONDO:0007534 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome MFN2 MONDO:0007534 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes CPA6 MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes CSTB MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes ASAH1 MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SIK1B MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SCN1B MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes EPM2A MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes CHD2 MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes GRIN1 MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SPTAN1 MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SNIP1 MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SLC6A1 MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes STRADA MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SZT2 MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes IER3IP1 MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes PLCB1 MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes WWOX MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes SLC2A1 MONDO:0007295 benign epilepsy with centrotemporal spikes benign_epilepsy_with_centrotemporal_spikes Benign Epilepsy with Centrotemporal Spikes RELN MONDO:0007295 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 DDHD2 MONDO:0011122 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 PRMT7 MONDO:0011122 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 GLDC MONDO:0011122 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 MIR143 MONDO:0011122 body mass index quantitative trait locus 11 body_mass_index_quantitative_trait_locus_11 Body Mass Index Quantitative Trait Locus 11 POLG MONDO:0011122 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 MONDO:0004988 breast adenocarcinoma breast_adenocarcinoma Breast Adenocarcinoma SLC22A18 MONDO:0004988 breast cancer breast_cancer Breast Cancer MIR127 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR204 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR31 MONDO:0004989 breast cancer breast_cancer Breast Cancer HERC2 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR125A MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR196A2 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR210 MONDO:0004989 breast ductal carcinoma breast_ductal_carcinoma Breast Ductal Carcinoma RAD54L MONDO:0005590 brody myopathy brody_myopathy Brody Myopathy CYP24A1 MONDO:0010977 brody myopathy brody_myopathy Brody Myopathy DMD MONDO:0010977 butyrylcholinesterase deficiency butyrylcholinesterase_deficiency Butyrylcholinesterase Deficiency CASK cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e TTN MONDO:0012744 cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e RBM20 MONDO:0012744 cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e DES MONDO:0012744 cardiomyopathy, dilated, 1e cardiomyopathy_dilated_1e Cardiomyopathy, Dilated, 1e LMNA MONDO:0012744 cardiomyopathy, infantile histiocytoid cardiomyopathy_infantile_histiocytoid Cardiomyopathy, Infantile Histiocytoid NDUFB11 MONDO:0010771 cask-related disorders cask_related_disorders Cask-Related Disorders CASK cerebellar atrophy, developmental delay, and seizures cerebellar_atrophy_developmental_delay_and_seizures Cerebellar Atrophy, Developmental Delay, and Seizures EBF3 MONDO:0060551 cerebellar atrophy, developmental delay, and seizures cerebellar_atrophy_developmental_delay_and_seizures Cerebellar Atrophy, Developmental Delay, and Seizures BRPF1 MONDO:0060551 cerebellar hypoplasia cerebellar_hypoplasia Cerebellar Hypoplasia FLG cerebrooculofacioskeletal syndrome 1 cerebrooculofacioskeletal_syndrome_1 Cerebrooculofacioskeletal Syndrome 1 ERCC2 MONDO:0008955 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease DNAJC5 MONDO:0009744 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease CLN8 MONDO:0009744 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease CLN6 MONDO:0009744 ceroid storage disease ceroid_storage_disease Ceroid Storage Disease CLN3 MONDO:0009744 clear cell renal cell carcinoma clear_cell_renal_cell_carcinoma Clear Cell Renal Cell Carcinoma HNF1A MONDO:0005005 cleft palate, isolated cleft_palate_isolated Cleft Palate, Isolated GNB1 MONDO:0016064 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 MONDO:0001476 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant YAP1 MONDO:0007350 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant RBP4 MONDO:0007350 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant CYP1B1 MONDO:0007350 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 MONDO:0000732 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 MONDO:0005501 congenital disorder of glycosylation, type ii congenital_disorder_of_glycosylation_type_ii_2 Congenital Disorder of Glycosylation, Type Ii TMEM199 MONDO:0005501 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 convulsions, familial infantile, with paroxysmal choreoathetosis convulsions_familial_infantile_with_paroxysmal_choreoathetosis Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis CSTB corpus callosum, agenesis of corpus_callosum_agenesis_of Corpus Callosum, Agenesis of DCC MONDO:0009022 corpus callosum, agenesis of corpus_callosum_agenesis_of Corpus Callosum, Agenesis of MED12 MONDO:0009022 corpus callosum, agenesis of corpus_callosum_agenesis_of Corpus Callosum, Agenesis of ARID1B MONDO:0009022 corpus callosum, agenesis of corpus_callosum_agenesis_of Corpus Callosum, Agenesis of ADNP MONDO:0009022 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 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 MONDO:0010779 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 MONDO:0005148 distal hereditary motor neuropathies distal_hereditary_motor_neuropathies Distal Hereditary Motor Neuropathies IGHMBP2 MONDO:0018894 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 MONDO:0011444 dyskeratosis congenita, autosomal dominant 1 dyskeratosis_congenita_autosomal_dominant_1 Dyskeratosis Congenita, Autosomal Dominant 1 TINF2 MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 dyskeratosis_congenita_autosomal_dominant_1 Dyskeratosis Congenita, Autosomal Dominant 1 TERT MONDO:0007485 dystonia dystonia Dystonia MYO5A MONDO:0003441 dystonia dystonia Dystonia CSTB MONDO:0003441 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 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 MONDO:0005579 epilepsy, idiopathic generalized epilepsy_idiopathic_generalized Epilepsy, Idiopathic Generalized DDHD2 MONDO:0005579 epilepsy, idiopathic generalized epilepsy_idiopathic_generalized Epilepsy, Idiopathic Generalized GLDC MONDO:0005579 epilepsy, progressive myoclonic, 1b epilepsy_progressive_myoclonic_1b_2 Epilepsy, Progressive Myoclonic, 1b TBC1D24 familial bicuspid aortic valve familial_bicuspid_aortic_valve Familial Bicuspid Aortic Valve DSP 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 fundus dystrophy fundus_dystrophy Fundus Dystrophy NR2E3 MONDO:0019118 fundus dystrophy fundus_dystrophy Fundus Dystrophy RP1 MONDO:0019118 fundus dystrophy fundus_dystrophy Fundus Dystrophy RP2 MONDO:0019118 fundus dystrophy fundus_dystrophy Fundus Dystrophy IMPG2 MONDO:0019118 fundus dystrophy fundus_dystrophy Fundus Dystrophy PROM1 MONDO:0019118 fundus dystrophy fundus_dystrophy Fundus Dystrophy ABHD12 MONDO:0019118 gastric adenocarcinoma gastric_adenocarcinoma Gastric Adenocarcinoma MAP2K2 MONDO:0005036 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor MEN1 MONDO:0011719 glucocorticoid deficiency 1 glucocorticoid_deficiency_1 Glucocorticoid Deficiency 1 MRAP gout gout Gout DARS2 MONDO:0005393 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 MONDO:0002869 hemifacial hyperplasia hemifacial_hyperplasia Hemifacial Hyperplasia EFNB1 hemifacial hyperplasia hemifacial_hyperplasia Hemifacial Hyperplasia FGFR3 hydrocephalus hydrocephalus Hydrocephalus PLOD1 MONDO:0001150 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 hypertelorism hypertelorism Hypertelorism POGZ MONDO:0007778 hypertelorism hypertelorism Hypertelorism MED13L MONDO:0007778 hypertelorism hypertelorism Hypertelorism TFAP2A MONDO:0007778 hypertelorism hypertelorism Hypertelorism ANKRD11 MONDO:0007778 hypertelorism hypertelorism Hypertelorism COL1A1 MONDO:0007778 hypertension, essential hypertension_essential Hypertension, Essential COL4A5 MONDO:0001134 hypertension, essential hypertension_essential Hypertension, Essential DARS2 MONDO:0001134 hypertension, essential hypertension_essential Hypertension, Essential PKD1 MONDO:0001134 hypertension, essential hypertension_essential Hypertension, Essential PKD2 MONDO:0001134 hypertension, essential hypertension_essential Hypertension, Essential MEN1 MONDO:0001134 hypertension, essential hypertension_essential Hypertension, Essential F12 MONDO:0001134 hypertrichosis hypertrichosis Hypertrichosis NAGLU MONDO:0019280 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 right heart syndrome hypoplastic_right_heart_syndrome Hypoplastic Right Heart Syndrome TBX20 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 MONDO:0000159 interatrial communication interatrial_communication Interatrial Communication RPL5 MONDO:0006664 interatrial communication interatrial_communication Interatrial Communication NKX2-5 MONDO:0006664 interatrial communication interatrial_communication Interatrial Communication DMD MONDO:0006664 intraocular pressure quantitative trait locus intraocular_pressure_quantitative_trait_locus Intraocular Pressure Quantitative Trait Locus ZEB1 isolated brachycephaly isolated_brachycephaly Isolated Brachycephaly POGZ 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 lactic acidosis lactic_acidosis Lactic Acidosis CHAT MONDO:0000440 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis RP2 MONDO:0018998 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 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic GNB1 MONDO:0013108 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic ACTB MONDO:0013108 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid SF3B1 MONDO:0018874 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR16-1 MONDO:0004948 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR181A2 MONDO:0004948 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR15A MONDO:0004948 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR34A MONDO:0004948 lung cancer lung_cancer Lung Cancer MIR141 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR197 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIRLET7C MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR128-2 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR221 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR130A MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR20A MONDO:0005233 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 APC MONDO:0005061 lung squamous cell carcinoma lung_squamous_cell_carcinoma Lung Squamous Cell Carcinoma PTPN11 MONDO:0005097 macrocephaly/megalencephaly syndrome, autosomal recessive macrocephaly_megalencephaly_syndrome_autosomal_recessive Macrocephaly/megalencephaly Syndrome, Autosomal Recessive SATB2 MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive macrocephaly_megalencephaly_syndrome_autosomal_recessive Macrocephaly/megalencephaly Syndrome, Autosomal Recessive RPS6KA3 MONDO:0009544 macrodactyly of toes macrodactyly_of_toes Macrodactyly of Toes PIK3CA macrostomia, isolated macrostomia_isolated Macrostomia, Isolated POGZ 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 MONDO:0018872 megakaryocytic leukemia megakaryocytic_leukemia Megakaryocytic Leukemia TP53 MONDO:0018872 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 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 MONDO:0012613 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 microcephaly microcephaly Microcephaly CC2D2A MONDO:0001149 microcephaly microcephaly Microcephaly FLG MONDO:0001149 microcephaly 5, primary, autosomal recessive microcephaly_5_primary_autosomal_recessive Microcephaly 5, Primary, Autosomal Recessive TINF2 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-TN MONDO:0009640 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency MT-TL1 MONDO:0009068 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency MT-TN MONDO:0009068 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders RMND1 MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders RRM2B MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders YARS2 MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TE MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders SPG7 MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders GFM2 MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders ATP5F1D MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders GFER MONDO:0004069 mitochondrial dna depletion syndrome 1 mitochondrial_dna_depletion_syndrome_1_mngie_type Mitochondrial Dna Depletion Syndrome 1 MT-TK MONDO:0011283 mitochondrial neurogastrointestinal encephalomyopathy mitochondrial_neurogastrointestinal_encephalomyopathy Mitochondrial Neurogastrointestinal Encephalomyopathy MT-TK MONDO:0017575 mucopolysaccharidosis type vi mucopolysaccharidosis_type_vi_maroteaux_lamy Mucopolysaccharidosis Type Vi GUSB MONDO:0009661 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 MONDO:0020121 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome MT-TL1 MONDO:0018881 myofibromatosis, infantile, 1 myofibromatosis_infantile_1 Myofibromatosis, Infantile, 1 NOTCH3 myopathy myopathy Myopathy MT-TQ MONDO:0005336 myopathy myopathy Myopathy MT-TP MONDO:0005336 myopathy, centronuclear, x-linked myopathy_centronuclear_x_linked Myopathy, Centronuclear, X-Linked DNM2 MONDO:0010683 myopathy, congenital, with fiber-type disproportion myopathy_congenital_with_fiber_type_disproportion Myopathy, Congenital, with Fiber-Type Disproportion RYR1 MONDO:0009711 nail disorder, nonsyndromic congenital, 9 nail_disorder_nonsyndromic_congenital_9 Nail Disorder, Nonsyndromic Congenital, 9 ARID1B MONDO:0013592 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 MONDO:0008742 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness TECTA MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness STRC MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness RDX MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness POU3F4 MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness GIPC3 MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness COCH MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness USH2A MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness TRIOBP MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness KARS MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness PJVK MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness MARVELD2 MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness GSDME MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness KCNQ4 MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness MYH9 MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness GRXCR1 MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness OTOF MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness OTOGL MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness CEACAM16 MONDO:0019497 non-syndromic genetic deafness non_syndromic_genetic_deafness Non-Syndromic Genetic Deafness MYO6 MONDO:0019497 noonan syndrome 3 noonan_syndrome_3 Noonan Syndrome 3 SHOC2 MONDO:0012371 noonan syndrome with multiple lentigines noonan_syndrome_with_multiple_lentigines Noonan Syndrome with Multiple Lentigines PPP1R13L occipital encephalocele occipital_encephalocele Occipital Encephalocele CEP290 omphalocele, autosomal omphalocele_autosomal Omphalocele, Autosomal PLOD1 omphalocele, autosomal omphalocele_autosomal Omphalocele, Autosomal GJB2 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 ovarian cancer ovarian_cancer Ovarian Cancer MIR34C MONDO:0008170 palmoplantar keratoderma, nonepidermolytic, focal 1 palmoplantar_keratoderma_nonepidermolytic_focal_1 Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 KRT6C pancreas adenocarcinoma pancreas_adenocarcinoma Pancreas Adenocarcinoma MAP2K2 MONDO:0006047 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 MONDO:0005192 paresthesia paresthesia Paresthesia FKRP paroxysmal nocturnal hemoglobinuria 1 paroxysmal_nocturnal_hemoglobinuria_1 Paroxysmal Nocturnal Hemoglobinuria 1 LOC110806306 MONDO:0010438 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 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 MONDO:0009050 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 MONDO:0008265 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 MONDO:0014389 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 MONDO:0014389 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 MONDO:0014389 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 MONDO:0014389 polyposis syndrome, hereditary mixed, 1 polyposis_syndrome_hereditary_mixed_1 Polyposis Syndrome, Hereditary Mixed, 1 SCG5 pontoneocerebellar hypoplasia pontoneocerebellar_hypoplasia Pontoneocerebellar Hypoplasia TBC1D23 porphyria cutanea tarda, type i porphyria_cutanea_tarda_type_i Porphyria Cutanea Tarda, Type I UROD MONDO:0008295 prickle1-related progressive myoclonus epilepsy with ataxia prickle1_related_progressive_myoclonus_epilepsy_with_ataxia Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia TBC1D24 pseudohypoaldosteronism, type iia pseudohypoaldosteronism_type_iia Pseudohypoaldosteronism, Type Iia CUL3 MONDO:0007772 pseudohypoaldosteronism, type iia pseudohypoaldosteronism_type_iia Pseudohypoaldosteronism, Type Iia KLHL3 MONDO:0007772 pseudohypoaldosteronism, type iie pseudohypoaldosteronism_type_iie_2 Pseudohypoaldosteronism, Type Iie KLHL3 MONDO:0013782 pseudovaginal perineoscrotal hypospadias pseudovaginal_perineoscrotal_hypospadias Pseudovaginal Perineoscrotal Hypospadias SMCHD1 pulmonic stenosis pulmonic_stenosis Pulmonic Stenosis SOS1 rare adenocarcinoma of the breast rare_adenocarcinoma_of_the_breast Rare Adenocarcinoma of the Breast SLC22A18 MONDO:0004988 rare adenocarcinoma of the breast rare_adenocarcinoma_of_the_breast Rare Adenocarcinoma of the Breast RB1CC1 MONDO:0004988 rare adenocarcinoma of the breast rare_adenocarcinoma_of_the_breast Rare Adenocarcinoma of the Breast KRAS MONDO:0004988 rare isolated myopia rare_isolated_myopia Rare Isolated Myopia COL2A1 MONDO:0012154 rare isolated myopia rare_isolated_myopia Rare Isolated Myopia CHD7 MONDO:0012154 rare isolated myopia rare_isolated_myopia Rare Isolated Myopia FBN1 MONDO:0012154 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 FGFR3 MONDO:0017884 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 HRAS MONDO:0017884 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 BRAF MONDO:0017884 renal cell carcinoma, papillary, 1 renal_cell_carcinoma_papillary_1 Renal Cell Carcinoma, Papillary, 1 ATM MONDO:0017884 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 retinochoroidal coloboma retinochoroidal_coloboma Retinochoroidal Coloboma CHD7 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 MONDO:0005392 segawa syndrome, autosomal recessive segawa_syndrome_autosomal_recessive Segawa Syndrome, Autosomal Recessive GCH1 MONDO:0011551 seizure disorder seizure_disorder Seizure Disorder WDR45 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder MYO5A MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder NALCN MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder OTUD6B MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder HIVEP1 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder GSPT2 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder DYRK1A MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder FGFR3 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder FRRS1L MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder GNB1 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder POGZ MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder PURA MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder SYN3 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder UBE3A MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder TANGO2 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder TSC1 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder SPAST MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder SCO2 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder DNAH7 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder SLC2A1 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder TSHR MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder MPP4 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder ALDH7A1 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder ADNP MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder DHX30 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder ATP1A3 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder ARFGEF2 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder C12orf57 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder COL3A1 MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder CUL4B MONDO:0005027 seizure disorder seizure_disorder Seizure Disorder CDK20 MONDO:0005027 senior-loken syndrome 3 senior_loken_syndrome_3 Senior-Loken Syndrome 3 NPHP1 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 MONDO:0008831 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 MONDO:0008831 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 MONDO:0008831 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 MONDO:0008831 shprintzen-goldberg craniosynostosis syndrome shprintzen_goldberg_craniosynostosis_syndrome Shprintzen-Goldberg Craniosynostosis Syndrome KIF1BP skin melanoma skin_melanoma Skin Melanoma FBN1 MONDO:0005012 specific granule deficiency 1 specific_granule_deficiency_1 Specific Granule Deficiency 1 SMARCD2 MONDO:0044207 spermatogenic failure 1 spermatogenic_failure_1 Spermatogenic Failure 1 TEX15 MONDO:0009776 spermatogenic failure 1 spermatogenic_failure_1 Spermatogenic Failure 1 PDHA2 MONDO:0009776 spinocerebellar ataxia with axonal neuropathy type 2 spinocerebellar_ataxia_with_axonal_neuropathy_type_2 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 HCHGQ3 MONDO:0018996 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck MIR21 MONDO:0010150 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck MIR205 MONDO:0010150 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck MAP2K2 MONDO:0010150 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck MIR210 MONDO:0010150 strabismus strabismus Strabismus MED13L MONDO:0003432 strabismus strabismus Strabismus PCDH19 MONDO:0003432 stroke, ischemic stroke_ischemic Stroke, Ischemic PIK3CA MONDO:0002679 stroke, ischemic stroke_ischemic Stroke, Ischemic FBN1 MONDO:0002679 stroke, ischemic stroke_ischemic Stroke, Ischemic MT-TL1 MONDO:0002679 suppression of tumorigenicity 12 suppression_of_tumorigenicity_12 Suppression of Tumorigenicity 12 HRAS MONDO:0005082 sutton disease 2 sutton_disease_2 Sutton Disease 2 VPS13B talipes equinovarus talipes_equinovarus Talipes Equinovarus DARS2 MONDO:0007342 talipes equinovarus talipes_equinovarus Talipes Equinovarus CC2D2A MONDO:0007342 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 MONDO:0008542 thrombophilia due to thrombin defect thrombophilia_due_to_thrombin_defect Thrombophilia Due to Thrombin Defect PLOD1 MONDO:0008559 thyroid carcinoma, familial medullary thyroid_carcinoma_familial_medullary Thyroid Carcinoma, Familial Medullary KRAS MONDO:0015277 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 MONDO:0008593 tumor predisposition syndrome tumor_predisposition_syndrome Tumor Predisposition Syndrome BRCA2 MONDO:0015356 tumor predisposition syndrome tumor_predisposition_syndrome Tumor Predisposition Syndrome PMS2 MONDO:0015356 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 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 CHEK2 MONDO:0019004 wilms tumor 5 wilms_tumor_5 Wilms Tumor 5 FZD6 wolff-parkinson-white syndrome wolff_parkinson_white_syndrome Wolff-Parkinson-White Syndrome TBX20 MONDO:0008685 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 MONDO:0011133 yemenite deaf-blind hypopigmentation syndrome yemenite_deaf_blind_hypopigmentation_syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome USH2A MONDO:0011133 generalized epilepsy with febrile seizures plus generalized_epilepsy_with_febrile_seizures_plus Generalized Epilepsy with Febrile Seizures Plus GABRG2 MONDO:0018214 metaphyseal anadysplasia metaphyseal_anadysplasia Metaphyseal Anadysplasia MMP13 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome ARHGAP31 MONDO:0007034 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness CABP4 MONDO:0016293 alveolar soft part sarcoma alveolar_soft_part_sarcoma Alveolar Soft Part Sarcoma TFE3 MONDO:0011655 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa GUCA1B MONDO:0019200 cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome HDAC8 MONDO:0016033 cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome RAD21 MONDO:0016033 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency TNFRSF13B MONDO:0015517 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL35A MONDO:0015253 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome POMGNT1 MONDO:0000171 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS10 MONDO:0015253 hereditary spherocytosis hereditary_spherocytosis Hereditary Spherocytosis ANK1 MONDO:0019350 ewing sarcoma ewing_sarcoma Ewing Sarcoma ERG MONDO:0005328 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome DAG1 MONDO:0000171 arterial calcification of infancy arterial_calcification_of_infancy Arterial Calcification of Infancy ABCC6 MONDO:0018870 stargardt disease stargardt_disease Stargardt Disease ELOVL4 MONDO:0019353 perrault syndrome perrault_syndrome Perrault Syndrome HSD17B4 MONDO:0017312 brugada syndrome brugada_syndrome Brugada Syndrome SCN3B MONDO:0015263 periventricular nodular heterotopia periventricular_nodular_heterotopia Periventricular Nodular Heterotopia ERMARD MONDO:0020341 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis RD3 MONDO:0018998 porokeratosis porokeratosis Porokeratosis MVK MONDO:0006602 seckel syndrome seckel_syndrome Seckel Syndrome CEP152 MONDO:0019342 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young BLK MONDO:0018911 seckel syndrome seckel_syndrome Seckel Syndrome CENPJ MONDO:0019342 perrault syndrome perrault_syndrome Perrault Syndrome CLPP MONDO:0017312 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa MAK MONDO:0019200 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome ISPD MONDO:0000171 uv-sensitive syndrome uv_sensitive_syndrome Uv-Sensitive Syndrome ERCC8 MONDO:0015797 cole-carpenter syndrome cole_carpenter_syndrome_3 Cole-Carpenter Syndrome P4HB MONDO:0016085 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis KCNJ13 MONDO:0018998 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS29 MONDO:0015253 advanced sleep phase syndrome advanced_sleep_phase_syndrome Advanced Sleep Phase Syndrome CSNK1D MONDO:0015609 brugada syndrome brugada_syndrome Brugada Syndrome HCN4 MONDO:0015263 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS7 MONDO:0015253 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 MONDO:0000171 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency TNFRSF13C MONDO:0015517 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SPATA7 MONDO:0019200 facioscapulohumeral muscular dystrophy 1 facioscapulohumeral_muscular_dystrophy_1 Facioscapulohumeral Muscular Dystrophy 1 SMCHD1 MONDO:0001347 hereditary spherocytosis hereditary_spherocytosis Hereditary Spherocytosis SLC4A1 MONDO:0019350 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation KCNE2 MONDO:0018054 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young CEL MONDO:0018911 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL15 MONDO:0015253 adams-oliver syndrome adams_oliver_syndrome_6 Adams-Oliver Syndrome RBPJ MONDO:0007034 brugada syndrome brugada_syndrome Brugada Syndrome KCND3 MONDO:0015263 periventricular nodular heterotopia periventricular_nodular_heterotopia Periventricular Nodular Heterotopia NEDD4L MONDO:0020341 autoimmune lymphoproliferative syndrome autoimmune_lymphoproliferative_syndrome Autoimmune Lymphoproliferative Syndrome PRKCD MONDO:0017979 proteus syndrome proteus_syndrome Proteus Syndrome PTEN MONDO:0008318 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPS28 MONDO:0015253 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa DHDDS MONDO:0019200 perrault syndrome perrault_syndrome Perrault Syndrome TWNK MONDO:0017312 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa AGBL5 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa TTC8 MONDO:0019200 porokeratosis porokeratosis Porokeratosis FDPS MONDO:0006602 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ZNF513 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa REEP6 MONDO:0019200 pitt-hopkins-like syndrome pitt_hopkins_like_syndrome Pitt-Hopkins-Like Syndrome NRXN1 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency ICOS MONDO:0015517 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SLC7A14 MONDO:0019200 brugada syndrome brugada_syndrome Brugada Syndrome SLMAP MONDO:0015263 antenatal bartter syndrome antenatal_bartter_syndrome Antenatal Bartter Syndrome SLC12A1 perrault syndrome perrault_syndrome Perrault Syndrome ERAL1 MONDO:0017312 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ZNF408 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa BBS2 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa OFD1 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ARL2BP MONDO:0019200 geleophysic dysplasia geleophysic_dysplasia Geleophysic Dysplasia FBN1 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic CCND1 MONDO:0004948 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa SAG MONDO:0019200 brugada syndrome brugada_syndrome Brugada Syndrome TRPM4 MONDO:0015263 singleton-merten syndrome singleton_merten_syndrome_3 Singleton-Merten Syndrome IFIH1 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type WDR72 MONDO:0013181 cole-carpenter syndrome cole_carpenter_syndrome_3 Cole-Carpenter Syndrome SEC24D MONDO:0016085 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 MONDO:0000200 metaphyseal anadysplasia metaphyseal_anadysplasia Metaphyseal Anadysplasia MMP9 autosomal dominant progressive external ophthalmoplegia autosomal_dominant_progressive_external_ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia POLG2 MONDO:0008003 autosomal dominant progressive external ophthalmoplegia autosomal_dominant_progressive_external_ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia RRM2B MONDO:0008003 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis GDF6 MONDO:0018998 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 MONDO:0018901 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease FKRP MONDO:0018939 nut midline carcinoma nut_midline_carcinoma Nut Midline Carcinoma NUTM1 MONDO:0005563 desmoplastic small round cell tumor desmoplastic_small_round_cell_tumor Desmoplastic Small Round Cell Tumor WT1 microtia microtia Microtia HOXA2 zimmermann-laband syndrome zimmermann_laband_syndrome Zimmermann-Laband Syndrome ATP6V1B2 MONDO:0000200 atrial standstill atrial_standstill Atrial Standstill SCN5A kid syndrome kid_syndrome Kid Syndrome GJB2 frontometaphyseal dysplasia frontometaphyseal_dysplasia Frontometaphyseal Dysplasia MAP3K7 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome ADAR MONDO:0018866 cerulean cataract cerulean_cataract Cerulean Cataract MAF cap myopathy cap_myopathy Cap Myopathy TPM3 MONDO:0015753 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma KIAA1549 MONDO:0016691 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 MONDO:0018911 endometrial stromal sarcoma endometrial_stromal_sarcoma Endometrial Stromal Sarcoma SUZ12 MONDO:0006745 aicardi-goutieres syndrome aicardi_goutieres_syndrome Aicardi-Goutieres Syndrome IFIH1 MONDO:0018866 cap myopathy cap_myopathy Cap Myopathy TPM2 MONDO:0015753 congenital short bowel syndrome congenital_short_bowel_syndrome Congenital Short Bowel Syndrome FLNA retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa NR2E3 MONDO:0019200 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation KCNJ2 MONDO:0018054 hereditary spherocytosis hereditary_spherocytosis Hereditary Spherocytosis EPB42 MONDO:0019350 muir-torre syndrome muir_torre_syndrome Muir-Torre Syndrome MSH6 MONDO:0008018 hereditary spherocytosis hereditary_spherocytosis Hereditary Spherocytosis SPTA1 MONDO:0019350 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction TNNT2 MONDO:0018901 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome LAGE3 MONDO:0009627 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency CR2 MONDO:0015517 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome TPRKB MONDO:0009627 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome OSGEP MONDO:0009627 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome TP53RK MONDO:0009627 brugada syndrome brugada_syndrome Brugada Syndrome KCNE3 MONDO:0015263 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome POMK MONDO:0000171 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction TPM1 MONDO:0018901 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency NFKB2 MONDO:0015517 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRPF6 MONDO:0019200 west syndrome west_syndrome West Syndrome CDKL5 MONDO:0018097 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita ACD MONDO:0015780 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation GJA5 MONDO:0018054 ebstein anomaly ebstein_anomaly Ebstein Anomaly MYH7 MONDO:0009144 west syndrome west_syndrome West Syndrome ARX MONDO:0018097 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation KCNA5 MONDO:0018054 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency CD19 MONDO:0015517 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic ATM MONDO:0004948 seckel syndrome seckel_syndrome Seckel Syndrome TRAIP MONDO:0019342 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction MIB1 MONDO:0018901 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa GUCY2D MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PRPF4 MONDO:0019200 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a PALB2 MONDO:0019391 duane retraction syndrome duane_retraction_syndrome Duane Retraction Syndrome MAFB MONDO:0007473 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa IDH3B MONDO:0019200 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young APPL1 MONDO:0018911 tetralogy of fallot tetralogy_of_fallot Tetralogy of Fallot GATA5 MONDO:0008542 tukel syndrome tukel_syndrome Tukel Syndrome KIF21A MONDO:0007614 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation SCN5A MONDO:0018054 congenital stationary night blindness congenital_stationary_night_blindness Congenital Stationary Night Blindness GNB3 MONDO:0016293 lymphoma, mucosa-associated lymphoid type lymphoma_mucosa_associated_lymphoid_type Lymphoma, Mucosa-Associated Lymphoid Type MALT1 MONDO:0007650 lennox-gastaut syndrome lennox_gastaut_syndrome Lennox-Gastaut Syndrome SCN1A MONDO:0016532 pitt-hopkins-like syndrome pitt_hopkins_like_syndrome Pitt-Hopkins-Like Syndrome CNTNAP2 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa HGSNAT MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa POMGNT1 MONDO:0019200 postsynaptic congenital myasthenic syndromes postsynaptic_congenital_myasthenic_syndromes Postsynaptic Congenital Myasthenic Syndromes RAPSN retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CACNA1F MONDO:0019200 omenn syndrome omenn_syndrome Omenn Syndrome LIG4 MONDO:0011338 tukel syndrome tukel_syndrome Tukel Syndrome PHOX2A MONDO:0007614 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency COX5A MONDO:0009068 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 MONDO:0019391 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCE MONDO:0019391 generalized epilepsy with febrile seizures plus generalized_epilepsy_with_febrile_seizures_plus Generalized Epilepsy with Febrile Seizures Plus STX1B MONDO:0018214 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease FKTN MONDO:0018939 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease POMT1 MONDO:0018939 autosomal dominant progressive external ophthalmoplegia autosomal_dominant_progressive_external_ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia TWNK MONDO:0008003 wilson-turner x-linked mental retardation syndrome wilson_turner_x_linked_mental_retardation_syndrome Wilson-Turner X-Linked Mental Retardation Syndrome HDAC8 MONDO:0010665 autosomal dominant progressive external ophthalmoplegia autosomal_dominant_progressive_external_ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia POLG MONDO:0008003 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type SLC24A4 MONDO:0013181 mosaic variegated aneuploidy syndrome mosaic_variegated_aneuploidy_syndrome Mosaic Variegated Aneuploidy Syndrome TRIP13 MONDO:0000141 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type MMP20 MONDO:0013181 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa NEK2 MONDO:0019200 atypical teratoid rhabdoid tumor atypical_teratoid_rhabdoid_tumor Atypical Teratoid Rhabdoid Tumor SMARCB1 MONDO:0020560 cerulean cataract cerulean_cataract Cerulean Cataract CRYBB2 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type KLK4 MONDO:0013181 autosomal dominant progressive external ophthalmoplegia autosomal_dominant_progressive_external_ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia SLC25A4 MONDO:0008003 lymphoma, mucosa-associated lymphoid type lymphoma_mucosa_associated_lymphoid_type Lymphoma, Mucosa-Associated Lymphoid Type BIRC3 MONDO:0007650 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type GPR68 MONDO:0013181 butterfly-shaped pigment dystrophy butterfly_shaped_pigment_dystrophy Butterfly-Shaped Pigment Dystrophy PRPH2 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome SCO2 MONDO:0009723 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 MONDO:0013181 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a FANCB MONDO:0019391 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a BRCA2 MONDO:0019391 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor ALK MONDO:0015798 autosomal dominant robinow syndrome autosomal_dominant_robinow_syndrome Autosomal Dominant Robinow Syndrome WNT5A chronic eosinophilic leukemia chronic_eosinophilic_leukemia Chronic Eosinophilic Leukemia FIP1L1 MONDO:0015687 juvenile amyotrophic lateral sclerosis juvenile_amyotrophic_lateral_sclerosis Juvenile Amyotrophic Lateral Sclerosis SIGMAR1 MONDO:0017593 hereditary mixed polyposis syndrome hereditary_mixed_polyposis_syndrome Hereditary Mixed Polyposis Syndrome BMPR1A 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 MONDO:0008145 cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome GJA8 MONDO:0015300 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 MONDO:0000171 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly SHH renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary FHIT MONDO:0005086 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 MONDO:0006745 mild hyperphenylalaninemia mild_hyperphenylalaninemia Mild Hyperphenylalaninemia PAH lymphomatoid papulosis lymphomatoid_papulosis Lymphomatoid Papulosis NPM1 infantile nephronophthisis infantile_nephronophthisis Infantile Nephronophthisis CEP83 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a RAD51 MONDO:0019391 tukel syndrome tukel_syndrome Tukel Syndrome TUBB3 MONDO:0007614 yunis-varon syndrome yunis_varon_syndrome_2 Yunis-Varon Syndrome VAC14 MONDO:0008995 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction PRDM16 MONDO:0018901 endometrial stromal sarcoma endometrial_stromal_sarcoma Endometrial Stromal Sarcoma YWHAE MONDO:0006745 oculoectodermal syndrome oculoectodermal_syndrome Oculoectodermal Syndrome KRAS MONDO:0010854 microphthalmia microphthalmia Microphthalmia PRSS56 MONDO:0021129 intestinal pseudo-obstruction intestinal_pseudo_obstruction Intestinal Pseudo-Obstruction ACTG2 MONDO:0002803 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 MONDO:0010263 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 MONDO:0016596 hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PIGO MONDO:0016596 idiopathic ventricular fibrillation, non brugada type idiopathic_ventricular_fibrillation_non_brugada_type Idiopathic Ventricular Fibrillation, Non Brugada Type SCN5A MONDO:0011376 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 MONDO:0009709 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 MONDO:0019181 hemimegalencephaly hemimegalencephaly Hemimegalencephaly PIK3CA walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome RXYLT1 MONDO:0000171 pseudoxanthoma elasticum pseudoxanthoma_elasticum Pseudoxanthoma Elasticum ENPP1 MONDO:0009925 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome B3GALNT2 MONDO:0000171 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid KMT2A MONDO:0018874 catecholaminergic polymorphic ventricular tachycardia catecholaminergic_polymorphic_ventricular_tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia CALM1 MONDO:0017990 dyskeratosis congenita dyskeratosis_congenita Dyskeratosis Congenita USB1 MONDO:0015780 maturity-onset diabetes of the young maturity_onset_diabetes_of_the_young Maturity-Onset Diabetes of the Young ABCC8 MONDO:0018911 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor RANBP2 MONDO:0015798 atypical teratoid rhabdoid tumor atypical_teratoid_rhabdoid_tumor Atypical Teratoid Rhabdoid Tumor SMARCA4 MONDO:0020560 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor TPM3 MONDO:0015798 polycystic liver disease polycystic_liver_disease Polycystic Liver Disease LRP5 MONDO:0000447 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome NUP107 MONDO:0009627 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a ERCC4 MONDO:0019391 visceral myopathy visceral_myopathy Visceral Myopathy MYH11 MONDO:0100354 west syndrome west_syndrome West Syndrome SCN2A MONDO:0018097 seckel syndrome seckel_syndrome Seckel Syndrome PLK4 MONDO:0019342 ovarian small cell carcinoma ovarian_small_cell_carcinoma Ovarian Small Cell Carcinoma SMARCA4 MONDO:0003795 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation GATA5 MONDO:0018054 west syndrome west_syndrome West Syndrome SPTAN1 MONDO:0018097 mitochondrial complex ii deficiency mitochondrial_complex_ii_deficiency Mitochondrial Complex Ii Deficiency SDHB MONDO:0100294 walker-warburg syndrome walker_warburg_syndrome Walker-Warburg Syndrome COL4A1 MONDO:0000171 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation GATA6 MONDO:0018054 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFS2 MONDO:0009723 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation NPPA MONDO:0018054 meningioma, familial meningioma_familial Meningioma, Familial SMARCB1 MONDO:0011789 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation SCN4B MONDO:0018054 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation PITX2 MONDO:0018054 omenn syndrome omenn_syndrome Omenn Syndrome RMRP MONDO:0011338 seckel syndrome seckel_syndrome Seckel Syndrome ATRIP MONDO:0019342 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation NKX2-5 MONDO:0018054 seizures, benign familial infantile, 3 seizures_benign_familial_infantile_3 Seizures, Benign Familial Infantile, 3 KCNQ2 osteogenesis imperfecta, type ii osteogenesis_imperfecta_type_ii Osteogenesis Imperfecta, Type Ii P3H1 MONDO:0008147 osteogenesis imperfecta, type ii osteogenesis_imperfecta_type_ii Osteogenesis Imperfecta, Type Ii CRTAP MONDO:0008147 omenn syndrome omenn_syndrome Omenn Syndrome IL7R MONDO:0011338 classic phenylketonuria classic_phenylketonuria Classic Phenylketonuria PAH west syndrome west_syndrome West Syndrome PLCB1 MONDO:0018097 omenn syndrome omenn_syndrome Omenn Syndrome ADA MONDO:0011338 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RIMS1 MONDO:0019200 west syndrome west_syndrome West Syndrome GUF1 MONDO:0018097 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 MONDO:0020316 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma EGFR MONDO:0016682 lung cancer lung_cancer Lung Cancer MIR137 MONDO:0005233 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation GATA4 MONDO:0018054 familial calcium pyrophosphate deposition familial_calcium_pyrophosphate_deposition Familial Calcium Pyrophosphate Deposition ANKH acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia STAT5B MONDO:0012883 moebius syndrome moebius_syndrome Moebius Syndrome PLXND1 MONDO:0008006 salivary gland adenoma, pleomorphic salivary_gland_adenoma_pleomorphic Salivary Gland Adenoma, Pleomorphic HMGA2 lung cancer lung_cancer Lung Cancer MIR133B MONDO:0005233 meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 ORC6 MONDO:0016817 fetal hemoglobin quantitative trait locus 1 fetal_hemoglobin_quantitative_trait_locus_1 Fetal Hemoglobin Quantitative Trait Locus 1 HBD meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 ORC4 MONDO:0016817 hypothyroidism, congenital, nongoitrous, 2 hypothyroidism_congenital_nongoitrous_2 Hypothyroidism, Congenital, Nongoitrous, 2 TSHR MONDO:0024264 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 MONDO:0008944 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly PTCH1 pseudosarcomatous fibromatosis pseudosarcomatous_fibromatosis Pseudosarcomatous Fibromatosis USP6 MONDO:0004187 keratosis follicularis spinulosa decalvans keratosis_follicularis_spinulosa_decalvans Keratosis Follicularis Spinulosa Decalvans LRP1 severe hemophilia a severe_hemophilia_a Severe Hemophilia a F8 t-cell immunodeficiency with epidermodysplasia verruciformis t_cell_immunodeficiency_with_epidermodysplasia_verruciformis T-Cell Immunodeficiency with Epidermodysplasia Verruciformis RHOH monostotic fibrous dysplasia monostotic_fibrous_dysplasia Monostotic Fibrous Dysplasia GNAS treacher collins syndrome 1 treacher_collins_syndrome_1 Treacher Collins Syndrome 1 POLR1D MONDO:0002457 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques palmoplantar_keratoderma_mutilating_with_periorificial_keratotic_plaques Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques MBTPS2 cerulean cataract cerulean_cataract Cerulean Cataract CRYGD diarrhea 2, with microvillus atrophy diarrhea_2_with_microvillus_atrophy Diarrhea 2, with Microvillus Atrophy STX3 MONDO:0009635 striate palmoplantar keratoderma striate_palmoplantar_keratoderma Striate Palmoplantar Keratoderma DSG1 sodium channelopathy-related small fiber neuropathy sodium_channelopathy_related_small_fiber_neuropathy Sodium Channelopathy-Related Small Fiber Neuropathy SCN10A 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 MONDO:0018328 meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 CDT1 MONDO:0016817 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly GLI2 autosomal dominant macrothrombocytopenia autosomal_dominant_macrothrombocytopenia Autosomal Dominant Macrothrombocytopenia TUBB1 MONDO:0015372 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 MONDO:0017148 fibrolamellar carcinoma fibrolamellar_carcinoma Fibrolamellar Carcinoma PRKACA MONDO:0006210 chronic eosinophilic leukemia chronic_eosinophilic_leukemia Chronic Eosinophilic Leukemia PDGFRA MONDO:0015687 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 MONDO:0015352 pituitary stalk interruption syndrome pituitary_stalk_interruption_syndrome Pituitary Stalk Interruption Syndrome GPR161 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 MONDO:0018256 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 MONDO:0018256 juvenile amyotrophic lateral sclerosis juvenile_amyotrophic_lateral_sclerosis Juvenile Amyotrophic Lateral Sclerosis ALS2 MONDO:0017593 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia STRA6 MONDO:0000170 acrofacial dysostosis syndrome of rodriguez acrofacial_dysostosis_syndrome_of_rodriguez Acrofacial Dysostosis Syndrome of Rodriguez SF3B4 MONDO:0008714 meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 CDC6 MONDO:0016817 renal agenesis, bilateral renal_agenesis_bilateral Renal Agenesis, Bilateral ITGA8 renal agenesis, bilateral renal_agenesis_bilateral Renal Agenesis, Bilateral FGF20 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease B3GALNT2 MONDO:0018939 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease POMT2 MONDO:0018939 muscle eye brain disease muscle_eye_brain_disease_2 Muscle Eye Brain Disease GMPPB MONDO:0018939 nik deficiency nik_deficiency Nik Deficiency MAP3K14 lung cancer lung_cancer Lung Cancer MIR107 MONDO:0005233 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 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 MONDO:0016063 high bone mass osteogenesis imperfecta high_bone_mass_osteogenesis_imperfecta High Bone Mass Osteogenesis Imperfecta COL1A2 neutrophil-specific granule deficiency neutrophil_specific_granule_deficiency Neutrophil-Specific Granule Deficiency CEBPE MONDO:0009506 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly FGF8 lobar holoprosencephaly lobar_holoprosencephaly Lobar Holoprosencephaly DISP1 gordon holmes syndrome gordon_holmes_syndrome Gordon Holmes Syndrome PNPLA6 MONDO:0008935 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 MONDO:0016396 autosomal dominant robinow syndrome autosomal_dominant_robinow_syndrome Autosomal Dominant Robinow Syndrome DVL1 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 MONDO:0019200 early-onset, autosomal dominant alzheimer disease early_onset_autosomal_dominant_alzheimer_disease_2 Early-Onset, Autosomal Dominant Alzheimer Disease PSEN1 MONDO:0015140 early-onset, autosomal dominant alzheimer disease early_onset_autosomal_dominant_alzheimer_disease_2 Early-Onset, Autosomal Dominant Alzheimer Disease PSEN2 MONDO:0015140 infantile krabbe disease infantile_krabbe_disease Infantile Krabbe Disease GALC 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 MONDO:0009271 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 MONDO:0013127 ferro-cerebro-cutaneous syndrome ferro_cerebro_cutaneous_syndrome Ferro-Cerebro-Cutaneous Syndrome PIGA MONDO:0018346 hermansky-pudlak syndrome with pulmonary fibrosis hermansky_pudlak_syndrome_with_pulmonary_fibrosis Hermansky-Pudlak Syndrome with Pulmonary Fibrosis HPS1 athyreosis athyreosis Athyreosis PAX8 MONDO:0019855 mild phenylketonuria mild_phenylketonuria Mild Phenylketonuria PAH porphyria, congenital erythropoietic porphyria_congenital_erythropoietic Porphyria, Congenital Erythropoietic GATA1 MONDO:0009902 distal hereditary motor neuropathy, type v distal_hereditary_motor_neuropathy_type_v_2 Distal Hereditary Motor Neuropathy, Type V REEP1 MONDO:0015353 cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYBB1 MONDO:0015300 asplenia, isolated congenital asplenia_isolated_congenital Asplenia, Isolated Congenital NKX2-5 MONDO:0010066 hereditary sensory and autonomic neuropathy type 1 hereditary_sensory_and_autonomic_neuropathy_type_1 Hereditary Sensory and Autonomic Neuropathy Type 1 SPTLC2 MONDO:0018213 hypoplastic amelogenesis imperfecta hypoplastic_amelogenesis_imperfecta Hypoplastic Amelogenesis Imperfecta ENAM lennox-gastaut syndrome lennox_gastaut_syndrome Lennox-Gastaut Syndrome CHD2 MONDO:0016532 vacterl with hydrocephalus vacterl_with_hydrocephalus Vacterl with Hydrocephalus FANCB spondylocarpotarsal synostosis syndrome spondylocarpotarsal_synostosis_syndrome Spondylocarpotarsal Synostosis Syndrome MYH3 MONDO:0010094 familial chilblain lupus familial_chilblain_lupus Familial Chilblain Lupus SAMHD1 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 MONDO:0000107 shwachman-diamond syndrome 1 shwachman_diamond_syndrome_1 Shwachman-Diamond Syndrome 1 EFL1 MONDO:0009833 familial vesicoureteral reflux familial_vesicoureteral_reflux Familial Vesicoureteral Reflux ROBO2 hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex LIPH MONDO:0018914 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 MONDO:0019855 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly DISP1 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy SCN1A MONDO:0017385 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy TBC1D24 MONDO:0017385 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 severe congenital nemaline myopathy severe_congenital_nemaline_myopathy Severe Congenital Nemaline Myopathy NEB MONDO:0015735 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 MONDO:0016396 digitotalar dysmorphism digitotalar_dysmorphism Digitotalar Dysmorphism TNNT3 MONDO:0015240 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 MONDO:0015140 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly TGIF1 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly SIX3 semilobar holoprosencephaly semilobar_holoprosencephaly Semilobar Holoprosencephaly ZIC2 microform holoprosencephaly microform_holoprosencephaly Microform Holoprosencephaly CDON chiari malformation type i chiari_malformation_type_i Chiari Malformation Type I DKK1 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ARHGEF18 MONDO:0019200 intermediate dend syndrome intermediate_dend_syndrome Intermediate Dend Syndrome KCNJ11 homozygous familial hypercholesterolemia homozygous_familial_hypercholesterolemia Homozygous Familial Hypercholesterolemia PCSK9 MONDO:0018328 homozygous familial hypercholesterolemia homozygous_familial_hypercholesterolemia Homozygous Familial Hypercholesterolemia APOB MONDO:0018328 cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYAA MONDO:0015300 cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome MAF MONDO:0015300 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia TENM3 MONDO:0000170 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia SHH MONDO:0000170 dentin dysplasia, type i dentin_dysplasia_type_i Dentin Dysplasia, Type I SSUH2 MONDO:0007436 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 MONDO:0017593 juvenile amyotrophic lateral sclerosis juvenile_amyotrophic_lateral_sclerosis Juvenile Amyotrophic Lateral Sclerosis SPG11 MONDO:0017593 zebra body myopathy zebra_body_myopathy Zebra Body Myopathy ACTA1 MONDO:0019949 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 MONDO:0015372 autosomal dominant macrothrombocytopenia autosomal_dominant_macrothrombocytopenia Autosomal Dominant Macrothrombocytopenia GP1BB MONDO:0015372 autosomal dominant macrothrombocytopenia autosomal_dominant_macrothrombocytopenia Autosomal Dominant Macrothrombocytopenia ITGB3 MONDO:0015372 cerulean cataract cerulean_cataract Cerulean Cataract MIP hyperalphalipoproteinemia 1 hyperalphalipoproteinemia_1 Hyperalphalipoproteinemia 1 APOC3 geleophysic dysplasia geleophysic_dysplasia Geleophysic Dysplasia LTBP3 kid syndrome kid_syndrome Kid Syndrome GJB6 sickle beta thalassemia sickle_beta_thalassemia Sickle Beta Thalassemia HBB 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 MONDO:0018604 fryns syndrome fryns_syndrome Fryns Syndrome PIGN MONDO:0009253 juvenile nephronophthisis juvenile_nephronophthisis Juvenile Nephronophthisis NPHP4 mohr syndrome mohr_syndrome Mohr Syndrome NEK1 hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex LPAR6 MONDO:0018914 hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex RPL21 MONDO:0018914 hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex SNRPE MONDO:0018914 homozygous familial hypercholesterolemia homozygous_familial_hypercholesterolemia Homozygous Familial Hypercholesterolemia LDLRAP1 MONDO:0018328 angiocentric glioma angiocentric_glioma Angiocentric Glioma QKI angiocentric glioma angiocentric_glioma Angiocentric Glioma MYB familial porencephaly familial_porencephaly Familial Porencephaly COL4A2 non-hereditary retinoblastoma non_hereditary_retinoblastoma Non-Hereditary Retinoblastoma RB1 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa KIZ MONDO:0019200 d-2-hydroxyglutaric aciduria 1 d_2_hydroxyglutaric_aciduria_1 D-2-Hydroxyglutaric Aciduria 1 IDH2 MONDO:0010924 multiple enchondromatosis, maffucci type multiple_enchondromatosis_maffucci_type Multiple Enchondromatosis, Maffucci Type IDH2 MONDO:0013808 lymphoma, mucosa-associated lymphoid type lymphoma_mucosa_associated_lymphoid_type Lymphoma, Mucosa-Associated Lymphoid Type FOXP1 MONDO:0007650 multiple enchondromatosis, maffucci type multiple_enchondromatosis_maffucci_type Multiple Enchondromatosis, Maffucci Type IDH1 MONDO:0013808 microcephaly, autosomal dominant microcephaly_autosomal_dominant Microcephaly, Autosomal Dominant DPP6 MONDO:0007988 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 MONDO:0013127 meier-gorlin syndrome 1 meier_gorlin_syndrome_1 Meier-Gorlin Syndrome 1 CDC45 MONDO:0016817 familial glucocorticoid deficiency familial_glucocorticoid_deficiency Familial Glucocorticoid Deficiency TXNRD2 sporadic pheochromocytoma sporadic_pheochromocytoma Sporadic Pheochromocytoma EPAS1 glycosylphosphatidylinositol deficiency glycosylphosphatidylinositol_deficiency Glycosylphosphatidylinositol Deficiency PIGW MONDO:0012465 hemimegalencephaly hemimegalencephaly Hemimegalencephaly AKT3 pierre robin syndrome pierre_robin_syndrome Pierre Robin Syndrome SOX9 cap myopathy cap_myopathy Cap Myopathy MYPN MONDO:0015753 dubowitz syndrome dubowitz_syndrome Dubowitz Syndrome LIG4 MONDO:0009124 lennox-gastaut syndrome lennox_gastaut_syndrome Lennox-Gastaut Syndrome DNM1 MONDO:0016532 tukel syndrome tukel_syndrome Tukel Syndrome TUBB2B MONDO:0007614 dubowitz syndrome dubowitz_syndrome Dubowitz Syndrome NSUN2 MONDO:0009124 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 SOS2 MONDO:0018997 schneckenbecken dysplasia schneckenbecken_dysplasia Schneckenbecken Dysplasia INPPL1 MONDO:0010013 coloboma of macula coloboma_of_macula Coloboma of Macula SALL2 MONDO:0001476 shwachman-diamond syndrome 1 shwachman_diamond_syndrome_1 Shwachman-Diamond Syndrome 1 DNAJC21 MONDO:0009833 omenn syndrome omenn_syndrome Omenn Syndrome IL2RG MONDO:0011338 lennox-gastaut syndrome lennox_gastaut_syndrome Lennox-Gastaut Syndrome GABRB3 MONDO:0016532 pseudosarcomatous fibromatosis pseudosarcomatous_fibromatosis Pseudosarcomatous Fibromatosis MYH9 MONDO:0004187 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion ITGA7 MONDO:0009711 enchondromatosis, multiple, ollier type enchondromatosis_multiple_ollier_type Enchondromatosis, Multiple, Ollier Type IDH1 MONDO:0008145 enchondromatosis, multiple, ollier type enchondromatosis_multiple_ollier_type Enchondromatosis, Multiple, Ollier Type IDH2 MONDO:0008145 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 MONDO:0010789 hemihyperplasia, isolated hemihyperplasia_isolated Hemihyperplasia, Isolated IGF2 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 MONDO:0010789 gastrointestinal stromal tumor gastrointestinal_stromal_tumor Gastrointestinal Stromal Tumor SDHA MONDO:0011719 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii WNT1 MONDO:0009804 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv SPARC MONDO:0008148 lipomatosis, multiple symmetric lipomatosis_multiple_symmetric Lipomatosis, Multiple Symmetric MFN2 MONDO:0007908 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma NFKBIA MONDO:0015459 ewing sarcoma ewing_sarcoma Ewing Sarcoma ETV4 MONDO:0005328 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CDHR1 MONDO:0019200 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency CD81 MONDO:0015517 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa POC1B MONDO:0019200 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor CARS MONDO:0015798 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa TTLL5 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RAB28 MONDO:0019200 brugada syndrome brugada_syndrome Brugada Syndrome ABCC9 MONDO:0015263 lung cancer lung_cancer Lung Cancer MIR429 MONDO:0005233 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFAF3 MONDO:0009723 alzheimer disease alzheimer_disease Alzheimer Disease MIR107 MONDO:0100087 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency NFKB1 MONDO:0015517 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency TNFSF12 MONDO:0015517 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency MS4A1 MONDO:0015517 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CNGA3 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa OPN1LW MONDO:0019200 west syndrome west_syndrome West Syndrome GRIN2B MONDO:0018097 medulloblastoma medulloblastoma Medulloblastoma MIR326 MONDO:0007959 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma BRAF MONDO:0016691 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid TET2 MONDO:0018874 endometrial stromal sarcoma endometrial_stromal_sarcoma Endometrial Stromal Sarcoma NUTM2A MONDO:0006745 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis MIR146A MONDO:0008383 ependymoma ependymoma Ependymoma C11orf95 squamous cell carcinoma squamous_cell_carcinoma Squamous Cell Carcinoma MIR205 MONDO:0005096 ependymoma ependymoma Ependymoma RELA lymphoma, mucosa-associated lymphoid type lymphoma_mucosa_associated_lymphoid_type Lymphoma, Mucosa-Associated Lymphoid Type IGH MONDO:0007650 mantle cell lymphoma mantle_cell_lymphoma Mantle Cell Lymphoma IGH MONDO:0018876 fibrolamellar carcinoma fibrolamellar_carcinoma Fibrolamellar Carcinoma DNAJB1 MONDO:0006210 breast cancer breast_cancer Breast Cancer MIR200C MONDO:0004989 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa PITPNM3 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa RAX2 MONDO:0019200 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ADAM9 MONDO:0019200 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a UBE2T MONDO:0019391 lung cancer lung_cancer Lung Cancer MIR34A MONDO:0005233 gastric cancer gastric_cancer Gastric Cancer MIR34A MONDO:0004950 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis MIR155 MONDO:0008383 breast cancer breast_cancer Breast Cancer MIR34A MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR200B MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR27A MONDO:0004989 lung cancer lung_cancer Lung Cancer MIR200C MONDO:0005233 alzheimer disease alzheimer_disease Alzheimer Disease MIR29A MONDO:0100087 gastric cancer gastric_cancer Gastric Cancer MIR200C MONDO:0004950 gastric cancer gastric_cancer Gastric Cancer MIR141 MONDO:0004950 gastric cancer gastric_cancer Gastric Cancer MIR27A MONDO:0004950 gastric cancer gastric_cancer Gastric Cancer MIR145 MONDO:0004950 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma RAF1 MONDO:0016691 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CSPP1 MONDO:0008944 mantle cell lymphoma mantle_cell_lymphoma Mantle Cell Lymphoma MIR16-1 MONDO:0018876 colorectal cancer colorectal_cancer Colorectal Cancer MIR126 MONDO:0005575 alzheimer disease alzheimer_disease Alzheimer Disease MIR29B1 MONDO:0100087 cleft lip/palate cleft_lip_palate Cleft Lip/palate DLX4 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TCTN1 MONDO:0008944 gastric cancer gastric_cancer Gastric Cancer MIR106B MONDO:0004950 bladder cancer bladder_cancer Bladder Cancer MIR143 MONDO:0004986 ovarian cancer ovarian_cancer Ovarian Cancer MIR146A MONDO:0008170 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CEP120 MONDO:0008944 gastric cancer gastric_cancer Gastric Cancer MIR203A MONDO:0004950 gastric cancer gastric_cancer Gastric Cancer MIR20A MONDO:0004950 gastric cancer gastric_cancer Gastric Cancer MIR222 MONDO:0004950 cervical cancer cervical_cancer Cervical Cancer MIR214 MONDO:0002974 colorectal cancer colorectal_cancer Colorectal Cancer MIR34C MONDO:0005575 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 KIAA0556 MONDO:0008944 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma MIR29C MONDO:0015459 gastric cancer gastric_cancer Gastric Cancer MIR143 MONDO:0004950 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR34A MONDO:0005192 ovarian cancer ovarian_cancer Ovarian Cancer MIR214 MONDO:0008170 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor CLTC MONDO:0015798 lung cancer lung_cancer Lung Cancer MIR29C MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR93 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR29A MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR200B MONDO:0005233 gastric cancer gastric_cancer Gastric Cancer MIR215 MONDO:0004950 gastric cancer gastric_cancer Gastric Cancer MIR451A MONDO:0004950 glioma glioma Glioma MIR221 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 CEP104 MONDO:0008944 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia PRKAR1A MONDO:0012883 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome MIR34A MONDO:0018881 ovarian cancer ovarian_cancer Ovarian Cancer MIR125A MONDO:0008170 glioma glioma Glioma MIR222 gastric cancer gastric_cancer Gastric Cancer MIR93 MONDO:0004950 glioblastoma glioblastoma Glioblastoma MIR137 MONDO:0018177 polycystic kidney disease polycystic_kidney_disease Polycystic Kidney Disease MIR17 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa OPN1MW MONDO:0019200 esophageal cancer esophageal_cancer Esophageal Cancer MIR34A MONDO:0007576 glioma glioma Glioma MIR34A pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR96 MONDO:0005192 sickle cell disease sickle_cell_disease Sickle Cell Disease MIR144 inflammatory myofibroblastic tumor inflammatory_myofibroblastic_tumor Inflammatory Myofibroblastic Tumor TPM4 MONDO:0015798 endometrial stromal sarcoma endometrial_stromal_sarcoma Endometrial Stromal Sarcoma NUTM2B MONDO:0006745 medulloblastoma medulloblastoma Medulloblastoma MIR34A MONDO:0007959 esophageal cancer esophageal_cancer Esophageal Cancer MIR373 MONDO:0007576 oral cancer oral_cancer Oral Cancer MIR31 glioma glioma Glioma MIR15B glioma glioma Glioma MIR146B glioma glioma Glioma MIR184 glioblastoma glioblastoma Glioblastoma MIR34A MONDO:0018177 glioblastoma glioblastoma Glioblastoma MIR296 MONDO:0018177 glioma glioma Glioma MIR17 microphthalmia microphthalmia Microphthalmia TMEM98 MONDO:0021129 esophageal cancer esophageal_cancer Esophageal Cancer MIR30E MONDO:0007576 esophageal cancer esophageal_cancer Esophageal Cancer MIR16-2 MONDO:0007576 esophageal cancer esophageal_cancer Esophageal Cancer MIR126 MONDO:0007576 glioblastoma glioblastoma Glioblastoma MIR182 MONDO:0018177 periventricular nodular heterotopia periventricular_nodular_heterotopia Periventricular Nodular Heterotopia TMTC3 MONDO:0020341 schizophrenia schizophrenia Schizophrenia MIR206 MONDO:0005090 catecholaminergic polymorphic ventricular tachycardia catecholaminergic_polymorphic_ventricular_tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia TECRL MONDO:0017990 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 ARMC9 MONDO:0008944 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a RFWD3 MONDO:0019391 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a XRCC2 MONDO:0019391 duane retraction syndrome duane_retraction_syndrome Duane Retraction Syndrome COL25A1 MONDO:0007473 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL35 MONDO:0015253 treacher collins syndrome 1 treacher_collins_syndrome_1 Treacher Collins Syndrome 1 POLR1C MONDO:0002457 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis IFT140 MONDO:0018998 cowden disease cowden_disease Cowden Disease AKT1 MONDO:0016063 leukodystrophy, hypomyelinating, 6 leukodystrophy_hypomyelinating_6 Leukodystrophy, Hypomyelinating, 6 UFM1 MONDO:0012905 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa TUB MONDO:0019200 cowden disease cowden_disease Cowden Disease SDHD MONDO:0016063 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma FGFR1 MONDO:0016691 coloboma of macula coloboma_of_macula Coloboma of Macula ABCB6 MONDO:0001476 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 A2ML1 MONDO:0018997 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 RASA2 MONDO:0018997 cowden disease cowden_disease Cowden Disease SDHB MONDO:0016063 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 LZTR1 MONDO:0018997 gliosarcoma gliosarcoma Gliosarcoma EGFR MONDO:0016681 autosomal dominant polycystic kidney disease autosomal_dominant_polycystic_kidney_disease Autosomal Dominant Polycystic Kidney Disease GANAB MONDO:0004691 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 PIBF1 MONDO:0008944 fanconi anemia, complementation group a fanconi_anemia_complementation_group_a Fanconi Anemia, Complementation Group a MAD2L2 MONDO:0019391 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction MYH7B MONDO:0018901 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR375 MONDO:0005015 cornelia de lange syndrome cornelia_de_lange_syndrome Cornelia De Lange Syndrome SETD5 MONDO:0016033 common variable immunodeficiency common_variable_immunodeficiency Common Variable Immunodeficiency PRKCD MONDO:0015517 left ventricular noncompaction left_ventricular_noncompaction Left Ventricular Noncompaction PKP2 MONDO:0018901 seckel syndrome seckel_syndrome Seckel Syndrome CENPE MONDO:0019342 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFV1 MONDO:0009723 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma SRGAP3 MONDO:0016691 cowden disease cowden_disease Cowden Disease SDHC MONDO:0016063 klippel-trenaunay-weber syndrome klippel_trenaunay_weber_syndrome Klippel-Trenaunay-Weber Syndrome AGGF1 MONDO:0007864 rigid spine muscular dystrophy 1 rigid_spine_muscular_dystrophy_1 Rigid Spine Muscular Dystrophy 1 MYH7 MONDO:0011271 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 HYLS1 MONDO:0008944 cowden disease cowden_disease Cowden Disease SEC23B MONDO:0016063 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic RPS15 MONDO:0004948 kabuki syndrome 1 kabuki_syndrome_1 Kabuki Syndrome 1 RAP1A MONDO:0016512 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa NMNAT1 MONDO:0019200 pilocytic astrocytoma pilocytic_astrocytoma Pilocytic Astrocytoma NTRK2 MONDO:0016691 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia NABP1 MONDO:0012883 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa CACNA2D4 MONDO:0019200 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 MONDO:0010789 lung cancer susceptibility 3 lung_cancer_susceptibility_3 Lung Cancer Susceptibility 3 MIR375 MONDO:0005061 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic POT1 MONDO:0004948 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa ATF6 MONDO:0019200 breast cancer breast_cancer Breast Cancer MIR429 MONDO:0004989 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation SCN2B MONDO:0018054 familial atrial fibrillation familial_atrial_fibrillation Familial Atrial Fibrillation SCN3B MONDO:0018054 coloboma of macula coloboma_of_macula Coloboma of Macula FZD5 MONDO:0001476 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 MONDO:0010789 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa DRAM2 MONDO:0019200 omenn syndrome omenn_syndrome Omenn Syndrome CHD7 MONDO:0011338 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia TBL1XR1 MONDO:0012883 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 KAT6B MONDO:0018997 sotos syndrome 1 sotos_syndrome_1 Sotos Syndrome 1 SETD2 MONDO:0019349 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic IKZF3 MONDO:0004948 thyroid carcinoma, familial medullary thyroid_carcinoma_familial_medullary Thyroid Carcinoma, Familial Medullary ESR2 MONDO:0015277 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 TRIP13 MONDO:0019004 rigid spine muscular dystrophy 1 rigid_spine_muscular_dystrophy_1 Rigid Spine Muscular Dystrophy 1 TTN MONDO:0011271 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 MIR346 MONDO:0005034 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFS7 MONDO:0009640 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 MONDO:0003608 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 SPIDR MONDO:0009299 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 SOX3 MONDO:0009299 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 SOX9 MONDO:0009299 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 PSMC3IP MONDO:0009299 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 NR5A1 MONDO:0009299 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 NUP107 MONDO:0009299 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 BMP15 MONDO:0009299 46,xx sex reversal 1 46xx_sex_reversal_1_2 46,xx Sex Reversal 1 FSHR MONDO:0009299 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 MONDO:0019157 acquired idiopathic sideroblastic anemia acquired_idiopathic_sideroblastic_anemia Acquired Idiopathic Sideroblastic Anemia TET2 MONDO:0019157 acral dystrophic epidermolysis bullosa acral_dystrophic_epidermolysis_bullosa Acral Dystrophic Epidermolysis Bullosa COL7A1 acrocephalopolydactylous dysplasia acrocephalopolydactylous_dysplasia Acrocephalopolydactylous Dysplasia MYO5A MONDO:0008709 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 MONDO:0020316 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 neonatal citrullinemia type i acute_neonatal_citrullinemia_type_i Acute Neonatal Citrullinemia Type I ASS1 MONDO:0016600 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIRLET7A3 MONDO:0012883 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR210 MONDO:0012883 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR223 MONDO:0012883 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia FIP1L1 MONDO:0012883 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIRLET7C MONDO:0012883 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIRLET7D MONDO:0012883 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR126 MONDO:0012883 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR15A MONDO:0012883 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR16-1 MONDO:0012883 acute promyelocytic leukemia acute_promyelocytic_leukemia Acute Promyelocytic Leukemia MIR23A MONDO:0012883 adenosine monophosphate deaminase 1 deficiency adenosine_monophosphate_deaminase_1_deficiency Adenosine Monophosphate Deaminase 1 Deficiency AMPD3 MONDO:0013028 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 MONDO:0008730 adrenocortical carcinoma, hereditary adrenocortical_carcinoma_hereditary Adrenocortical Carcinoma, Hereditary MIR195 MONDO:0006639 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 MONDO:0016601 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 MONDO:0018006 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 MONDO:0100087 alzheimer disease alzheimer_disease Alzheimer Disease MIR34A MONDO:0100087 alzheimer disease alzheimer_disease Alzheimer Disease MIR328 MONDO:0100087 amelogenesis imperfecta hypomaturation type amelogenesis_imperfecta_hypomaturation_type Amelogenesis Imperfecta Hypomaturation Type AMELX MONDO:0013181 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 MONDO:0011773 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 MONDO:0007109 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 MONDO:0011927 anosmia, isolated congenital anosmia_isolated_congenital Anosmia, Isolated Congenital TENM1 anosmia, isolated congenital anosmia_isolated_congenital Anosmia, Isolated Congenital CNGA2 aplasia cutis congenita, nonsyndromic aplasia_cutis_congenita_nonsyndromic Aplasia Cutis Congenita, Nonsyndromic DLL4 MONDO:0007145 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 MONDO:0008675 arthrogryposis, distal, type 5 arthrogryposis_distal_type_5 Arthrogryposis, Distal, Type 5 NALCN MONDO:0007158 asthma asthma Asthma MIR126 MONDO:0004979 asthma asthma Asthma MIR152 MONDO:0004979 asthma asthma Asthma MIR148A MONDO:0004979 asthma asthma Asthma MIR148B MONDO:0004979 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 MONDO:0019855 athyreosis athyreosis Athyreosis SLC26A4 MONDO:0019855 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 MONDO:0007171 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 MIR1-2 MONDO:0007171 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 MIR320A MONDO:0007171 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 MONDO:0018321 atypical juvenile parkinsonism atypical_juvenile_parkinsonism Atypical Juvenile Parkinsonism PODXL MONDO:0018321 atypical juvenile parkinsonism atypical_juvenile_parkinsonism Atypical Juvenile Parkinsonism DNAJC6 MONDO:0018321 auriculo-condylar syndrome auriculo_condylar_syndrome Auriculo-Condylar Syndrome GNAI3 MONDO:0000107 auriculo-condylar syndrome auriculo_condylar_syndrome Auriculo-Condylar Syndrome EDN1 MONDO:0000107 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 MONDO:0018636 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 MONDO:0044625 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 MONDO:0018644 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 MONDO:0018773 autosomal dominant epilepsy with auditory features autosomal_dominant_epilepsy_with_auditory_features Autosomal Dominant Epilepsy with Auditory Features RELN MONDO:0100031 autosomal dominant epilepsy with auditory features autosomal_dominant_epilepsy_with_auditory_features Autosomal Dominant Epilepsy with Auditory Features DEPDC5 MONDO:0100031 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 MONDO:0015372 autosomal dominant macrothrombocytopenia autosomal_dominant_macrothrombocytopenia Autosomal Dominant Macrothrombocytopenia ITGA2B MONDO:0015372 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 sensorineural deafness type dfna autosomal_dominant_non_syndromic_sensorineural_deafness_type_dfna Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna MYO7A MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0019587 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 MONDO:0016614 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 MONDO:0009624 autosomal recessive chorioretinopathy-microcephaly syndrome autosomal_recessive_chorioretinopathy_microcephaly_syndrome Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome PLK4 MONDO:0009624 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 MONDO:0009054 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 MONDO:0009054 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 MONDO:0009054 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 myogenic arthrogryposis multiplex congenita autosomal_recessive_myogenic_arthrogryposis_multiplex_congenita Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita SYNE1 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0019588 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 MONDO:0016828 autosomal recessive sideroblastic anemia autosomal_recessive_sideroblastic_anemia Autosomal Recessive Sideroblastic Anemia HSPA9 MONDO:0016828 autosomal recessive spastic paraplegia type 59 autosomal_recessive_spastic_paraplegia_type_59 Autosomal Recessive Spastic Paraplegia Type 59 USP8 MONDO:0018416 autosomal recessive spastic paraplegia type 60 autosomal_recessive_spastic_paraplegia_type_60 Autosomal Recessive Spastic Paraplegia Type 60 WDR48 MONDO:0018417 autosomal recessive spastic paraplegia type 66 autosomal_recessive_spastic_paraplegia_type_66 Autosomal Recessive Spastic Paraplegia Type 66 ARSI MONDO:0018418 autosomal recessive spastic paraplegia type 67 autosomal_recessive_spastic_paraplegia_type_67 Autosomal Recessive Spastic Paraplegia Type 67 PGAP1 MONDO:0018419 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 MONDO:0018422 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 axin2-related attenuated familial adenomatous polyposis axin2_related_attenuated_familial_adenomatous_polyposis Axin2-Related Attenuated Familial Adenomatous Polyposis AXIN2 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 MONDO:0004986 bladder cancer bladder_cancer Bladder Cancer MIR10B MONDO:0004986 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 brain cancer brain_cancer Brain Cancer MIR25 MONDO:0001657 breast cancer breast_cancer Breast Cancer MIR9-3 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR520C MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR96 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR200A MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR199B MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR510 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR502 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR499A MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR451A MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR193B MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR30E MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR335 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR373 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR20A MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR182 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR126 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR128-1 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR141 MONDO:0004989 breast cancer breast_cancer Breast Cancer MIR146B MONDO:0004989 brugada syndrome brugada_syndrome Brugada Syndrome CALM2 MONDO:0015263 bullous diffuse cutaneous mastocytosis bullous_diffuse_cutaneous_mastocytosis Bullous Diffuse Cutaneous Mastocytosis KIT 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 MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYGD MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types EPHA2 MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types GJA3 MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types PITX3 MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types MIP MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types HSF4 MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYGC MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYGB MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types BFSP2 MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYBA4 MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CHMP4B MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYAA MONDO:0013411 cataract 16, multiple types cataract_16_multiple_types Cataract 16, Multiple Types CRYBA1 MONDO:0013411 cataract 24 cataract_24 Cataract 24 CRYGB MONDO:0011015 cataract 24 cataract_24 Cataract 24 CRYBB3 MONDO:0011015 cataract 24 cataract_24 Cataract 24 CRYBA2 MONDO:0011015 cataract 24 cataract_24 Cataract 24 CRYAA MONDO:0011015 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 microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYGD MONDO:0015300 cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYGC MONDO:0015300 cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYBA4 MONDO:0015300 cataract microcornea syndrome cataract_microcornea_syndrome Cataract Microcornea Syndrome CRYBB2 MONDO:0015300 cataract-glaucoma cataract_glaucoma Cataract-Glaucoma PITX3 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 MONDO:0024542 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 MONDO:0024542 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 MONDO:0024542 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 MONDO:0024542 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 MONDO:0015738 childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy TPM3 MONDO:0015738 childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy NEB MONDO:0015738 childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy MYPN MONDO:0015738 childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy KBTBD13 MONDO:0015738 childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy KLHL41 MONDO:0015738 childhood-onset nemaline myopathy childhood_onset_nemaline_myopathy Childhood-Onset Nemaline Myopathy ACTA1 MONDO:0015738 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 cholestasis, progressive familial intrahepatic, 1 cholestasis_progressive_familial_intrahepatic_1_2 Cholestasis, Progressive Familial Intrahepatic, 1 MYO5B MONDO:0008892 chondrodysplasia-pseudohermaphroditism syndrome chondrodysplasia_pseudohermaphroditism_syndrome Chondrodysplasia-Pseudohermaphroditism Syndrome HHAT MONDO:0010814 chorea, benign hereditary chorea_benign_hereditary Chorea, Benign Hereditary ADCY5 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 MONDO:0010250 coach syndrome coach_syndrome Coach Syndrome INPP5E cockayne syndrome type iii cockayne_syndrome_type_iii Cockayne Syndrome Type Iii ERCC8 MONDO:0008998 cockayne syndrome type iii cockayne_syndrome_type_iii Cockayne Syndrome Type Iii ERCC6 MONDO:0008998 coloboma of eye lens coloboma_of_eye_lens Coloboma of Eye Lens SALL2 MONDO:0020355 coloboma of eye lens coloboma_of_eye_lens Coloboma of Eye Lens PAX6 MONDO:0020355 coloboma of eye lens coloboma_of_eye_lens Coloboma of Eye Lens FZD5 MONDO:0020355 coloboma of eye lens coloboma_of_eye_lens Coloboma of Eye Lens ABCB6 MONDO:0020355 coloboma of eyelid coloboma_of_eyelid Coloboma of Eyelid SALL2 MONDO:0020357 coloboma of eyelid coloboma_of_eyelid Coloboma of Eyelid PAX6 MONDO:0020357 coloboma of eyelid coloboma_of_eyelid Coloboma of Eyelid FZD5 MONDO:0020357 coloboma of eyelid coloboma_of_eyelid Coloboma of Eyelid ABCB6 MONDO:0020357 coloboma of optic nerve coloboma_of_optic_nerve Coloboma of Optic Nerve SALL2 MONDO:0007354 coloboma of optic nerve coloboma_of_optic_nerve Coloboma of Optic Nerve FZD5 MONDO:0007354 coloboma of optic nerve coloboma_of_optic_nerve Coloboma of Optic Nerve ABCB6 MONDO:0007354 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant SALL2 MONDO:0007350 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant FZD5 MONDO:0007350 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant ABCB6 MONDO:0007350 coloboma, ocular, autosomal dominant coloboma_ocular_autosomal_dominant Coloboma, Ocular, Autosomal Dominant ACTG1 MONDO:0007350 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia VSX2 MONDO:0000170 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia ABCB6 MONDO:0000170 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia RBP4 MONDO:0000170 colobomatous microphthalmia colobomatous_microphthalmia Colobomatous Microphthalmia GDF3 MONDO:0000170 colorectal cancer colorectal_cancer Colorectal Cancer MIR451A MONDO:0005575 colorectal cancer colorectal_cancer Colorectal Cancer MIR34B MONDO:0005575 colorectal cancer colorectal_cancer Colorectal Cancer MIRLET7A1 MONDO:0005575 colorectal cancer colorectal_cancer Colorectal Cancer MIR100 MONDO:0005575 colorectal cancer colorectal_cancer Colorectal Cancer MIR342 MONDO:0005575 colorectal cancer colorectal_cancer Colorectal Cancer MIR26A1 MONDO:0005575 colorectal cancer colorectal_cancer Colorectal Cancer MIR192 MONDO:0005575 colorectal cancer colorectal_cancer Colorectal Cancer MIR127 MONDO:0005575 colorectal cancer colorectal_cancer Colorectal Cancer MIR140 MONDO:0005575 colorectal cancer colorectal_cancer Colorectal Cancer MIR215 MONDO:0005575 colorectal cancer colorectal_cancer Colorectal Cancer MIR141 MONDO:0005575 combined oxidative phosphorylation deficiency 19 combined_oxidative_phosphorylation_deficiency_19 Combined Oxidative Phosphorylation Deficiency 19 NFS1 MONDO:0014269 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 MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome complete_atrioventricular_canal_ventricle_hypoplasia_syndrome Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome GATA6 MONDO:0020407 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion MAP3K20 MONDO:0009711 congenital fiber-type disproportion congenital_fiber_type_disproportion Congenital Fiber-Type Disproportion HACD1 MONDO:0009711 congenital generalized hypercontractile muscle stiffness syndrome congenital_generalized_hypercontractile_muscle_stiffness_syndrome Congenital Generalized Hypercontractile Muscle Stiffness Syndrome TPM3 MONDO:0018780 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 MONDO:0018682 congenital muscular dystrophy with intellectual disability congenital_muscular_dystrophy_with_intellectual_disability Congenital Muscular Dystrophy with Intellectual Disability POMT2 MONDO:0018278 congenital muscular dystrophy with intellectual disability congenital_muscular_dystrophy_with_intellectual_disability Congenital Muscular Dystrophy with Intellectual Disability POMT1 MONDO:0018278 congenital muscular dystrophy with intellectual disability congenital_muscular_dystrophy_with_intellectual_disability Congenital Muscular Dystrophy with Intellectual Disability LARGE1 MONDO:0018278 congenital muscular dystrophy with intellectual disability congenital_muscular_dystrophy_with_intellectual_disability Congenital Muscular Dystrophy with Intellectual Disability GMPPB MONDO:0018278 congenital muscular dystrophy with intellectual disability congenital_muscular_dystrophy_with_intellectual_disability Congenital Muscular Dystrophy with Intellectual Disability FKRP MONDO:0018278 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 MONDO:0016049 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 MONDO:0017619 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 MONDO:0017621 congenital sucrase-isomaltase deficiency with starch intolerance congenital_sucrase_isomaltase_deficiency_with_starch_intolerance Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance SI MONDO:0017618 congenital sucrase-isomaltase deficiency without starch intolerance congenital_sucrase_isomaltase_deficiency_without_starch_intolerance Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance SI MONDO:0017620 congenital sucrase-isomaltase deficiency without sucrose intolerance congenital_sucrase_isomaltase_deficiency_without_sucrose_intolerance Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance SI MONDO:0017622 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 MONDO:0016581 convulsions, familial infantile, with paroxysmal choreoathetosis convulsions_familial_infantile_with_paroxysmal_choreoathetosis Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis SCN8A 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 MONDO:0009021 cowden disease cowden_disease Cowden Disease MIR21 MONDO:0016063 cowden disease cowden_disease Cowden Disease MIR19A MONDO:0016063 craniorachischisis craniorachischisis Craniorachischisis DACT1 crisponi/cold-induced sweating syndrome 1 crisponi_cold_induced_sweating_syndrome_1 Crisponi/cold-Induced Sweating Syndrome 1 CLCF1 cryptogenic multifocal ulcerous stenosing enteritis cryptogenic_multifocal_ulcerous_stenosing_enteritis Cryptogenic Multifocal Ulcerous Stenosing Enteritis PLA2G4A MONDO:0018765 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 MONDO:0019571 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 MONDO:0018794 deafness, aminoglycoside-induced deafness_aminoglycoside_induced Deafness, Aminoglycoside-Induced MT-CO1 MONDO:0010799 dentin dysplasia, type i dentin_dysplasia_type_i Dentin Dysplasia, Type I VPS4B MONDO:0007436 dentin dysplasia, type i dentin_dysplasia_type_i Dentin Dysplasia, Type I DSPP MONDO:0007436 dentinogenesis imperfecta type 2 dentinogenesis_imperfecta_type_2 Dentinogenesis Imperfecta Type 2 DSPP 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 MONDO:0005015 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR145 MONDO:0005015 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR155 MONDO:0005015 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR99A MONDO:0005015 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR30E MONDO:0005015 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR140 MONDO:0005015 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR132 MONDO:0005015 diabetes mellitus diabetes_mellitus Diabetes Mellitus MIR134 MONDO:0005015 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent MIR29A MONDO:0005148 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent MIR29C MONDO:0005148 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent MIR657 MONDO:0005148 diamond-blackfan anemia diamond_blackfan_anemia Diamond-Blackfan Anemia RPL18 MONDO:0015253 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma PAX8 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma NTRK3 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma NRAS MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma PCM1 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma NTRK1 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma PPARG MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma TRIM27 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma TRIM24 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma TPR MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma TFG MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma NDUFA13 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma NCOA4 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma ERC1 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma EIF1AX MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma CCDC6 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma ALK MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma ETV6 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma GAS8-AS1 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma LPAR4 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma KRAS MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma HRAS MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma GOLGA5 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma TRIM33 MONDO:0015447 differentiated thyroid carcinoma differentiated_thyroid_carcinoma Differentiated Thyroid Carcinoma RET MONDO:0015447 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 MONDO:0015240 digitotalar dysmorphism digitotalar_dysmorphism Digitotalar Dysmorphism TNNI2 MONDO:0015240 digitotalar dysmorphism digitotalar_dysmorphism Digitotalar Dysmorphism MYH3 MONDO:0015240 digitotalar dysmorphism digitotalar_dysmorphism Digitotalar Dysmorphism MYBPC1 MONDO:0015240 digitotalar dysmorphism digitotalar_dysmorphism Digitotalar Dysmorphism NALCN MONDO:0015240 distal hereditary motor neuropathy type 7 distal_hereditary_motor_neuropathy_type_7 Distal Hereditary Motor Neuropathy Type 7 SLC5A7 MONDO:0015355 distal hereditary motor neuropathy type 7 distal_hereditary_motor_neuropathy_type_7 Distal Hereditary Motor Neuropathy Type 7 DCTN1 MONDO:0015355 distal hereditary motor neuropathy, type ii distal_hereditary_motor_neuropathy_type_ii Distal Hereditary Motor Neuropathy, Type Ii HSPB1 MONDO:0015352 distal hereditary motor neuropathy, type ii distal_hereditary_motor_neuropathy_type_ii Distal Hereditary Motor Neuropathy, Type Ii FBXO38 MONDO:0015352 distal hereditary motor neuropathy, type ii distal_hereditary_motor_neuropathy_type_ii Distal Hereditary Motor Neuropathy, Type Ii HSPB3 MONDO:0015352 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 MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 dyskeratosis_congenita_autosomal_dominant_6 Dyskeratosis Congenita, Autosomal Dominant 6 MPL MONDO:0014690 early myoclonic encephalopathy early_myoclonic_encephalopathy Early Myoclonic Encephalopathy SIK1 MONDO:0016022 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 MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract FYCO1 MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract EPHA2 MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract GJA8 MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract MIP MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract WFS1 MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract UNC45B MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract NHS MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYGD MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYGC MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYBA1 MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYAB MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYAA MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYBA2 MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYBB1 MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYBB3 MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract CRYBB2 MONDO:0020376 early-onset nuclear cataract early_onset_nuclear_cataract Early-Onset Nuclear Cataract BFSP1 MONDO:0020376 early-onset posterior subcapsular cataract early_onset_posterior_subcapsular_cataract Early-Onset Posterior Subcapsular Cataract UNC45B MONDO:0018610 early-onset posterior subcapsular cataract early_onset_posterior_subcapsular_cataract Early-Onset Posterior Subcapsular Cataract LEMD2 MONDO:0018610 early-onset posterior subcapsular cataract early_onset_posterior_subcapsular_cataract Early-Onset Posterior Subcapsular Cataract EPHA2 MONDO:0018610 early-onset posterior subcapsular cataract early_onset_posterior_subcapsular_cataract Early-Onset Posterior Subcapsular Cataract CRYBB2 MONDO:0018610 early-onset posterior subcapsular cataract early_onset_posterior_subcapsular_cataract Early-Onset Posterior Subcapsular Cataract CHMP4B MONDO:0018610 early-onset, autosomal dominant alzheimer disease early_onset_autosomal_dominant_alzheimer_disease_2 Early-Onset, Autosomal Dominant Alzheimer Disease SORL1 MONDO:0015140 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-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 MONDO:0002447 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 MONDO:0020310 epilepsy, familial focal, with variable foci 1 epilepsy_familial_focal_with_variable_foci_1_2 Epilepsy, Familial Focal, with Variable Foci 1 NPRL2 MONDO:0020310 epilepsy, pyridoxine-dependent epilepsy_pyridoxine_dependent Epilepsy, Pyridoxine-Dependent SLC13A5 MONDO:0009945 epilepsy, pyridoxine-dependent epilepsy_pyridoxine_dependent Epilepsy, Pyridoxine-Dependent PLPBP MONDO:0009945 epiphyseal dysplasia, microcephaly, and nystagmus epiphyseal_dysplasia_microcephaly_and_nystagmus Epiphyseal Dysplasia, Microcephaly, and Nystagmus RNU4ATAC erythrocyte galactose epimerase deficiency erythrocyte_galactose_epimerase_deficiency Erythrocyte Galactose Epimerase Deficiency GALE MONDO:0017691 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 MONDO:0017851 erythrokeratodermia variabilis et progressiva 5 erythrokeratodermia_variabilis_et_progressiva_5 Erythrokeratodermia Variabilis Et Progressiva 5 KDSR MONDO:0033015 esophageal cancer esophageal_cancer Esophageal Cancer MIR106A MONDO:0007576 esophageal cancer esophageal_cancer Esophageal Cancer MIR148A MONDO:0007576 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 MONDO:0018054 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 MONDO:0018604 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 MONDO:0019654 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 MONDO:0019654 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 MONDO:0019654 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 MONDO:0019654 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 MONDO:0019654 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 MONDO:0019654 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 MONDO:0010080 familial infantile bilateral striatal necrosis familial_infantile_bilateral_striatal_necrosis Familial Infantile Bilateral Striatal Necrosis MT-ATP6 MONDO:0010080 familial infantile bilateral striatal necrosis familial_infantile_bilateral_striatal_necrosis Familial Infantile Bilateral Striatal Necrosis ADAR MONDO:0010080 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 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 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 partial lipodystrophy due to akt2 mutations familial_partial_lipodystrophy_due_to_akt2_mutations Familial Partial Lipodystrophy Due to Akt2 Mutations AKT2 MONDO:0019192 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 MONDO:0015487 fatal infantile cytochrome c oxidase deficiency fatal_infantile_cytochrome_c_oxidase_deficiency Fatal Infantile Cytochrome C Oxidase Deficiency COX15 MONDO:0015487 fatal infantile cytochrome c oxidase deficiency fatal_infantile_cytochrome_c_oxidase_deficiency Fatal Infantile Cytochrome C Oxidase Deficiency COA6 MONDO:0015487 fatal infantile cytochrome c oxidase deficiency fatal_infantile_cytochrome_c_oxidase_deficiency Fatal Infantile Cytochrome C Oxidase Deficiency COA5 MONDO:0015487 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 MONDO:0044626 female infertility due to oocyte meiotic arrest female_infertility_due_to_oocyte_meiotic_arrest Female Infertility Due to Oocyte Meiotic Arrest PATL2 MONDO:0044626 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 gastric cancer, hereditary diffuse gastric_cancer_hereditary_diffuse Gastric Cancer, Hereditary Diffuse MAP3K6 MONDO:0007648 gcgr-related hyperglucagonemia gcgr_related_hyperglucagonemia Gcgr-Related Hyperglucagonemia GCGR generalized galactose epimerase deficiency generalized_galactose_epimerase_deficiency Generalized Galactose Epimerase Deficiency GALE MONDO:0017692 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 MONDO:0020504 genetic recurrent myoglobinuria genetic_recurrent_myoglobinuria Genetic Recurrent Myoglobinuria MT-CO1 MONDO:0020504 genetic recurrent myoglobinuria genetic_recurrent_myoglobinuria Genetic Recurrent Myoglobinuria LPIN1 MONDO:0020504 genetic transient congenital hypothyroidism genetic_transient_congenital_hypothyroidism Genetic Transient Congenital Hypothyroidism DUOX2 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma TACC1 MONDO:0016682 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma TACC3 MONDO:0016682 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma FGFR1 MONDO:0016682 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma Sep-14 MONDO:0016682 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma FGFR3 MONDO:0016682 giant cell glioblastoma giant_cell_glioblastoma Giant Cell Glioblastoma LZTR1 MONDO:0016682 glioblastoma glioblastoma Glioblastoma MIR326 MONDO:0018177 glioblastoma glioblastoma Glioblastoma MIR451A MONDO:0018177 glioma glioma Glioma MIR181A2 glioma glioma Glioma MIR296 gliosarcoma gliosarcoma Gliosarcoma FGFR1 MONDO:0016681 gliosarcoma gliosarcoma Gliosarcoma TACC3 MONDO:0016681 gliosarcoma gliosarcoma Gliosarcoma Sep-14 MONDO:0016681 gliosarcoma gliosarcoma Gliosarcoma LZTR1 MONDO:0016681 gliosarcoma gliosarcoma Gliosarcoma FGFR3 MONDO:0016681 gliosarcoma gliosarcoma Gliosarcoma TACC1 MONDO:0016681 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 MONDO:0018445 glycine encephalopathy with normal serum glycine glycine_encephalopathy_with_normal_serum_glycine Glycine Encephalopathy with Normal Serum Glycine GLDC MONDO:0011612 glycine encephalopathy with normal serum glycine glycine_encephalopathy_with_normal_serum_glycine Glycine Encephalopathy with Normal Serum Glycine AMT MONDO:0011612 glycine encephalopathy with normal serum glycine glycine_encephalopathy_with_normal_serum_glycine Glycine Encephalopathy with Normal Serum Glycine GCSH MONDO:0011612 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 MONDO:0017694 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 MONDO:0018485 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 MONDO:0007681 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 hemihyperplasia-multiple lipomatosis syndrome hemihyperplasia_multiple_lipomatosis_syndrome Hemihyperplasia-Multiple Lipomatosis Syndrome PIK3CA hemihyperplasia, isolated hemihyperplasia_isolated Hemihyperplasia, Isolated KCNQ1OT1 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 MONDO:0019531 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 MONDO:0008199 hereditary late-onset parkinson disease hereditary_late_onset_parkinson_disease Hereditary Late-Onset Parkinson Disease SNCA MONDO:0008199 hereditary late-onset parkinson disease hereditary_late_onset_parkinson_disease Hereditary Late-Onset Parkinson Disease VPS35 MONDO:0008199 hereditary late-onset parkinson disease hereditary_late_onset_parkinson_disease Hereditary Late-Onset Parkinson Disease LRRK2 MONDO:0008199 hereditary motor and sensory neuropathy v hereditary_motor_and_sensory_neuropathy_v Hereditary Motor and Sensory Neuropathy V MFN2 MONDO:0010877 hereditary neuroendocrine tumor of small intestine hereditary_neuroendocrine_tumor_of_small_intestine Hereditary Neuroendocrine Tumor of Small Intestine IPMK MONDO:0018698 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes VHL MONDO:0017366 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes KIF1B MONDO:0017366 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes FH MONDO:0017366 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHA MONDO:0017366 hereditary paraganglioma-pheochromocytoma syndromes hereditary_paraganglioma_pheochromocytoma_syndromes Hereditary Paraganglioma-Pheochromocytoma Syndromes MDH2 MONDO:0017366 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 MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 hereditary_sensory_and_autonomic_neuropathy_type_1 Hereditary Sensory and Autonomic Neuropathy Type 1 ATL1 MONDO:0018213 heritable pulmonary arterial hypertension heritable_pulmonary_arterial_hypertension Heritable Pulmonary Arterial Hypertension KCNK3 MONDO:0017148 heritable pulmonary arterial hypertension heritable_pulmonary_arterial_hypertension Heritable Pulmonary Arterial Hypertension TBX4 MONDO:0017148 heritable pulmonary arterial hypertension heritable_pulmonary_arterial_hypertension Heritable Pulmonary Arterial Hypertension SMAD9 MONDO:0017148 heritable pulmonary arterial hypertension heritable_pulmonary_arterial_hypertension Heritable Pulmonary Arterial Hypertension EIF2AK4 MONDO:0017148 heritable pulmonary arterial hypertension heritable_pulmonary_arterial_hypertension Heritable Pulmonary Arterial Hypertension CAV1 MONDO:0017148 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 MONDO:0018832 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 MONDO:0000193 hyperandrogenism due to cortisone reductase deficiency hyperandrogenism_due_to_cortisone_reductase_deficiency Hyperandrogenism Due to Cortisone Reductase Deficiency H6PD MONDO:0000193 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 hyperparathyroidism 3 hyperparathyroidism_3 Hyperparathyroidism 3 MEN1 MONDO:0012406 hyperparathyroidism 3 hyperparathyroidism_3 Hyperparathyroidism 3 GCM2 MONDO:0012406 hyperparathyroidism 3 hyperparathyroidism_3 Hyperparathyroidism 3 CDC73 MONDO:0012406 hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PIGY MONDO:0016596 hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PIGW MONDO:0016596 hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PGAP3 MONDO:0016596 hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PGAP2 MONDO:0016596 hyperphosphatasia-intellectual disability syndrome hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-Intellectual Disability Syndrome PIGL MONDO:0016596 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 MONDO:0001134 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 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 hypoparathyroidism, familial isolated hypoparathyroidism_familial_isolated_2 Hypoparathyroidism, Familial Isolated AIRE 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 MONDO:0024264 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 hypotrichosis simplex hypotrichosis_simplex Hypotrichosis Simplex DSG4 MONDO:0018914 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 MONDO:0011376 immunodeficiency 14 immunodeficiency_14 Immunodeficiency 14 PTEN MONDO:0014222 immunodeficiency 14 immunodeficiency_14 Immunodeficiency 14 PIK3R1 MONDO:0014222 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 MONDO:0017354 infantile glycine encephalopathy infantile_glycine_encephalopathy Infantile Glycine Encephalopathy GLDC MONDO:0017354 infantile glycine encephalopathy infantile_glycine_encephalopathy Infantile Glycine Encephalopathy GCSH MONDO:0017354 infantile glycine encephalopathy infantile_glycine_encephalopathy Infantile Glycine Encephalopathy AMT MONDO:0017354 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 MONDO:0016215 inherited congenital spastic tetraplegia inherited_congenital_spastic_tetraplegia Inherited Congenital Spastic Tetraplegia GAD1 MONDO:0016215 inherited congenital spastic tetraplegia inherited_congenital_spastic_tetraplegia Inherited Congenital Spastic Tetraplegia ADD3 MONDO:0016215 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 MONDO:0018733 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 MONDO:0018123 intermediate congenital nemaline myopathy intermediate_congenital_nemaline_myopathy Intermediate Congenital Nemaline Myopathy TPM3 MONDO:0015736 intermediate congenital nemaline myopathy intermediate_congenital_nemaline_myopathy Intermediate Congenital Nemaline Myopathy NEB MONDO:0015736 intermediate congenital nemaline myopathy intermediate_congenital_nemaline_myopathy Intermediate Congenital Nemaline Myopathy KLHL41 MONDO:0015736 intermediate congenital nemaline myopathy intermediate_congenital_nemaline_myopathy Intermediate Congenital Nemaline Myopathy ACTA1 MONDO:0015736 intermediate severe salla disease intermediate_severe_salla_disease Intermediate Severe Salla Disease SLC17A5 MONDO:0017737 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 MONDO:0014471 isolated atp synthase deficiency isolated_atp_synthase_deficiency Isolated Atp Synthase Deficiency MT-ATP6 MONDO:0014471 isolated atp synthase deficiency isolated_atp_synthase_deficiency Isolated Atp Synthase Deficiency ATPAF2 MONDO:0014471 isolated atp synthase deficiency isolated_atp_synthase_deficiency Isolated Atp Synthase Deficiency ATP5F1A MONDO:0014471 isolated atp synthase deficiency isolated_atp_synthase_deficiency Isolated Atp Synthase Deficiency ATP5F1E MONDO:0014471 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 MONDO:0015448 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency UQCRB MONDO:0015448 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency UQCRC2 MONDO:0015448 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency UQCRQ MONDO:0015448 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency UQCC2 MONDO:0015448 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency TTC19 MONDO:0015448 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency CYC1 MONDO:0015448 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency LYRM7 MONDO:0015448 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency MT-CYB MONDO:0015448 isolated complex iii deficiency isolated_complex_iii_deficiency Isolated Complex Iii Deficiency BCS1L MONDO:0015448 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 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 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 MONDO:0016512 dyskeratosis congenita, autosomal recessive 1 dyskeratosis_congenita_autosomal_recessive_1 Dyskeratosis Congenita, Autosomal Recessive 1 TERT MONDO:0009136 kaposiform hemangioendothelioma kaposiform_hemangioendothelioma Kaposiform Hemangioendothelioma GNA14 MONDO:0016236 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma NUTM2E MONDO:0005006 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma TERT MONDO:0005006 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma YWHAE MONDO:0005006 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma NUTM2B MONDO:0005006 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma IRX2 MONDO:0005006 kidney clear cell sarcoma kidney_clear_cell_sarcoma Kidney Clear Cell Sarcoma BCOR MONDO:0005006 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 MONDO:0009185 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 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 MONDO:0019742 late-onset nephronophthisis late_onset_nephronophthisis Late-Onset Nephronophthisis NPHP3 MONDO:0019742 late-onset nephronophthisis late_onset_nephronophthisis Late-Onset Nephronophthisis MAPKBP1 MONDO:0019742 leber congenital amaurosis leber_congenital_amaurosis Leber Congenital Amaurosis PCYT1A MONDO:0018998 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 MONDO:0012656 lethal hydranencephaly-diaphragmatic hernia syndrome lethal_hydranencephaly_diaphragmatic_hernia_syndrome Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome PLAT leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic MIR203A MONDO:0013108 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic MIR155 MONDO:0013108 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic MIR152 MONDO:0013108 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid MIR34B MONDO:0018874 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid MIR126 MONDO:0018874 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid MIR320A MONDO:0018874 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid MIR204 MONDO:0018874 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR145 MONDO:0004948 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR29A MONDO:0004948 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR143 MONDO:0004948 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic IGHG1 MONDO:0004948 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR107 MONDO:0004948 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR424 MONDO:0004948 leukemia, chronic lymphocytic leukemia_chronic_lymphocytic Leukemia, Chronic Lymphocytic MIR106B MONDO:0004948 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid MIR203A MONDO:0011996 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid MIR20A MONDO:0011996 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid MIR223 MONDO:0011996 leukemia, chronic myeloid leukemia_chronic_myeloid Leukemia, Chronic Myeloid MIR10A MONDO:0011996 leukoencephalopathy with vanishing white matter leukoencephalopathy_with_vanishing_white_matter Leukoencephalopathy with Vanishing White Matter AARS2 MONDO:0800448 leukoencephalopathy, cystic, without megalencephaly leukoencephalopathy_cystic_without_megalencephaly Leukoencephalopathy, Cystic, Without Megalencephaly NDUFA2 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 MONDO:0024552 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 MONDO:0024552 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 MONDO:0009703 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 MONDO:0009703 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 MONDO:0009703 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 MONDO:0009703 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 low anorectal malformation low_anorectal_malformation Low Anorectal Malformation MYH14 MONDO:0015733 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 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIRLET7A3 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR222 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR34B MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR372 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR34C MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR98 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR30D MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR200A MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR185 MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR15A MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR18A MONDO:0005233 lung cancer lung_cancer Lung Cancer MIRLET7E MONDO:0005233 lung cancer lung_cancer Lung Cancer MIRLET7B MONDO:0005233 lung cancer lung_cancer Lung Cancer MIRLET7G MONDO:0005233 lung cancer lung_cancer Lung Cancer MIRLET7D MONDO:0005233 lung cancer lung_cancer Lung Cancer MIR499A MONDO:0005233 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 MONDO:0011537 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 MONDO:0017385 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy PLCB1 MONDO:0017385 malignant migrating partial seizures of infancy malignant_migrating_partial_seizures_of_infancy Malignant Migrating Partial Seizures of Infancy SLC12A5 MONDO:0017385 malignant peripheral nerve sheath tumor malignant_peripheral_nerve_sheath_tumor Malignant Peripheral Nerve Sheath Tumor HTRA1 MONDO:0017827 malignant peripheral nerve sheath tumor malignant_peripheral_nerve_sheath_tumor Malignant Peripheral Nerve Sheath Tumor SH3PXD2A MONDO:0017827 man1b1-cdg man1b1_cdg Man1b1-Cdg MAN1B1 MONDO:0018349 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 MONDO:0009567 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 MONDO:0017917 medulloblastoma medulloblastoma Medulloblastoma MIR18A MONDO:0007959 medulloblastoma medulloblastoma Medulloblastoma MIR30B MONDO:0007959 medulloblastoma medulloblastoma Medulloblastoma MIR30D MONDO:0007959 medulloblastoma medulloblastoma Medulloblastoma MIR19A MONDO:0007959 medulloblastoma medulloblastoma Medulloblastoma MIR20A MONDO:0007959 medulloblastoma medulloblastoma Medulloblastoma MIR17 MONDO:0007959 medulloblastoma medulloblastoma Medulloblastoma MIR125A MONDO:0007959 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 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 MONDO:0011789 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 MONDO:0017730 metachromatic leukodystrophy, juvenile form metachromatic_leukodystrophy_juvenile_form Metachromatic Leukodystrophy, Juvenile Form PSAP MONDO:0009591 metachromatic leukodystrophy, late infantile form metachromatic_leukodystrophy_late_infantile_form Metachromatic Leukodystrophy, Late Infantile Form PSAP MONDO:0017729 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria metaphyseal_enchondromatosis_with_d_2_hydroxyglutaric_aciduria Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria IDH1 MONDO:0013941 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 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 MONDO:0018494 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 MONDO:0016558 mirror movements 1 mirror_movements_1 Mirror Movements 1 DNAL4 MONDO:0016558 mirror movements 1 mirror_movements_1 Mirror Movements 1 NTN1 MONDO:0016558 mitochondrial complex iv deficiency mitochondrial_complex_iv_deficiency Mitochondrial Complex Iv Deficiency PET117 MONDO:0009068 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 MONDO:0010780 mitochondrial neurogastrointestinal encephalomyopathy mitochondrial_neurogastrointestinal_encephalomyopathy Mitochondrial Neurogastrointestinal Encephalomyopathy RRM2B MONDO:0017575 mitochondrial non-syndromic sensorineural deafness mitochondrial_non_syndromic_sensorineural_deafness Mitochondrial Non-Syndromic Sensorineural Deafness MT-TS1 MONDO:0010779 mitochondrial non-syndromic sensorineural deafness mitochondrial_non_syndromic_sensorineural_deafness Mitochondrial Non-Syndromic Sensorineural Deafness MT-CO1 MONDO:0010779 mitochondrial non-syndromic sensorineural deafness mitochondrial_non_syndromic_sensorineural_deafness Mitochondrial Non-Syndromic Sensorineural Deafness MT-TH MONDO:0010779 mitochondrial non-syndromic sensorineural deafness mitochondrial_non_syndromic_sensorineural_deafness Mitochondrial Non-Syndromic Sensorineural Deafness MT-RNR1 MONDO:0010779 mitral valve prolapse 1 mitral_valve_prolapse_1 Mitral Valve Prolapse 1 DCHS1 moebius syndrome moebius_syndrome Moebius Syndrome REV3L MONDO:0008006 mosaic variegated aneuploidy syndrome mosaic_variegated_aneuploidy_syndrome Mosaic Variegated Aneuploidy Syndrome BUB3 MONDO:0000141 mosaic variegated aneuploidy syndrome mosaic_variegated_aneuploidy_syndrome Mosaic Variegated Aneuploidy Syndrome BUB1 MONDO:0000141 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 MONDO:0017171 mucopolysaccharidosis type 6, slowly progressing mucopolysaccharidosis_type_6_slowly_progressing Mucopolysaccharidosis Type 6, Slowly Progressing ARSB MONDO:0017172 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 MONDO:0007990 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 MONDO:0009668 multiple pterygium syndrome, lethal type multiple_pterygium_syndrome_lethal_type_2 Multiple Pterygium Syndrome, Lethal Type RYR1 MONDO:0009668 musculocontractural ehlers-danlos syndrome musculocontractural_ehlers_danlos_syndrome Musculocontractural Ehlers-Danlos Syndrome P4HA1 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 MONDO:0018881 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome MIR378A MONDO:0018881 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome MIR10A MONDO:0018881 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 MONDO:0009693 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR32 MONDO:0009693 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR93 MONDO:0009693 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR106B MONDO:0009693 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR181A2 MONDO:0009693 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR15A MONDO:0009693 myeloma, multiple myeloma_multiple Myeloma, Multiple MIR25 MONDO:0009693 myo5b-related progressive familial intrahepatic cholestasis myo5b_related_progressive_familial_intrahepatic_cholestasis Myo5b-Related Progressive Familial Intrahepatic Cholestasis MYO5B MONDO:0018804 myoclonic epilepsy, familial infantile myoclonic_epilepsy_familial_infantile Myoclonic Epilepsy, Familial Infantile CPLX1 myoclonic-astastic epilepsy myoclonic_astastic_epilepsy Myoclonic-Astastic Epilepsy SLC6A1 MONDO:0016025 myoclonic-astastic epilepsy myoclonic_astastic_epilepsy Myoclonic-Astastic Epilepsy CHD2 MONDO:0016025 myopathic intestinal pseudoobstruction myopathic_intestinal_pseudoobstruction Myopathic Intestinal Pseudoobstruction ACTG2 MONDO:0015191 myopathy, centronuclear, 1 myopathy_centronuclear_1 Myopathy, Centronuclear, 1 BIN1 MONDO:0008048 myopathy, centronuclear, 2 myopathy_centronuclear_2 Myopathy, Centronuclear, 2 SPEG MONDO:0009709 myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy_lactic_acidosis_and_sideroblastic_anemia_1 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 MONDO:0024553 myxofibrosarcoma myxofibrosarcoma Myxofibrosarcoma CREB3L1 myxofibrosarcoma myxofibrosarcoma Myxofibrosarcoma FUS myxofibrosarcoma myxofibrosarcoma Myxofibrosarcoma CREB3L2 nasopharyngeal carcinoma nasopharyngeal_carcinoma Nasopharyngeal Carcinoma MIR100 MONDO:0015459 nebulin-related early-onset distal myopathy nebulin_related_early_onset_distal_myopathy Nebulin-Related Early-Onset Distal Myopathy NEB MONDO:0018371 neonatal glycine encephalopathy neonatal_glycine_encephalopathy Neonatal Glycine Encephalopathy GLDC MONDO:0017353 neonatal glycine encephalopathy neonatal_glycine_encephalopathy Neonatal Glycine Encephalopathy GCSH MONDO:0017353 neonatal glycine encephalopathy neonatal_glycine_encephalopathy Neonatal Glycine Encephalopathy AMT MONDO:0017353 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 MONDO:0009736 neurofibromatosis-noonan syndrome neurofibromatosis_noonan_syndrome Neurofibromatosis-Noonan Syndrome MAP2K2 MONDO:0011035 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 MONDO:0019551 neutrophil-specific granule deficiency neutrophil_specific_granule_deficiency Neutrophil-Specific Granule Deficiency SMARCD2 MONDO:0009506 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 MONDO:0016310 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 MONDO:0016310 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 MONDO:0016309 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 MONDO:0016309 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 MONDO:0016308 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 MONDO:0016308 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 MONDO:0016307 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 MONDO:0016307 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 MONDO:0016306 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 MONDO:0016306 niemann-pick disease, type c1 niemann_pick_disease_type_c1_2 Niemann-Pick Disease, Type C1 MIR143 MONDO:0009757 niemann-pick disease, type c1 niemann_pick_disease_type_c1_2 Niemann-Pick Disease, Type C1 MIR98 MONDO:0009757 nijmegen breakage syndrome-like disorder nijmegen_breakage_syndrome_like_disorder Nijmegen Breakage Syndrome-Like Disorder MRE11 MONDO:0013118 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 CATSPER1 MONDO:0017173 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 MONDO:0003608 osteogenesis imperfecta, type ii osteogenesis_imperfecta_type_ii Osteogenesis Imperfecta, Type Ii PPIB MONDO:0008147 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii CREB3L1 MONDO:0009804 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii CRTAP MONDO:0009804 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii P3H1 MONDO:0009804 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii SERPINF1 MONDO:0009804 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii PPIB MONDO:0009804 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii BMP1 MONDO:0009804 osteogenesis imperfecta, type iii osteogenesis_imperfecta_type_iii_2 Osteogenesis Imperfecta, Type Iii SERPINH1 MONDO:0009804 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv SERPINF1 MONDO:0008148 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv SP7 MONDO:0008148 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv TMEM38B MONDO:0008148 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv WNT1 MONDO:0008148 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv PPIB MONDO:0008148 osteogenesis imperfecta, type iv osteogenesis_imperfecta_type_iv Osteogenesis Imperfecta, Type Iv CRTAP MONDO:0008148 osteogenic sarcoma osteogenic_sarcoma Osteogenic Sarcoma MIR140 MONDO:0009807 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 MONDO:0008170 ovarian cancer ovarian_cancer Ovarian Cancer MIR210 MONDO:0008170 ovarian cancer ovarian_cancer Ovarian Cancer MIR223 MONDO:0008170 ovarian cancer ovarian_cancer Ovarian Cancer MIR34B MONDO:0008170 ovarian cancer ovarian_cancer Ovarian Cancer MIRLET7C MONDO:0008170 ovarian cancer ovarian_cancer Ovarian Cancer MIRLET7G MONDO:0008170 ovarian cancer ovarian_cancer Ovarian Cancer MIRLET7D MONDO:0008170 ovarian cancer ovarian_cancer Ovarian Cancer MIRLET7I MONDO:0008170 ovarian cancer ovarian_cancer Ovarian Cancer MIR31 MONDO:0008170 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 palmoplantar keratoderma, norrbotten recessive type palmoplantar_keratoderma_norrbotten_recessive_type Palmoplantar Keratoderma, Norrbotten Recessive Type SLURP1 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR34B MONDO:0005192 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR34C MONDO:0005192 pancreatic cancer pancreatic_cancer Pancreatic Cancer MIR15A MONDO:0005192 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset MIR433 MONDO:0005180 partial atrioventricular canal partial_atrioventricular_canal Partial Atrioventricular Canal GATA6 MONDO:0015275 partial atrioventricular canal partial_atrioventricular_canal Partial Atrioventricular Canal GATA4 MONDO:0015275 partial atrioventricular canal partial_atrioventricular_canal Partial Atrioventricular Canal CRELD1 MONDO:0015275 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 MONDO:0018343 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 MONDO:0018343 periodic paralysis with transient compartment-like syndrome periodic_paralysis_with_transient_compartment_like_syndrome Periodic Paralysis with Transient Compartment-Like Syndrome CACNA1S 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 MONDO:0017317 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome pigmentation_defects_palmoplantar_keratoderma_skin_carcinoma_syndrome Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome SASH1 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 polycystic kidney disease polycystic_kidney_disease Polycystic Kidney Disease MIR15A polycystic liver disease polycystic_liver_disease Polycystic Liver Disease MIR15A MONDO:0000447 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 MONDO:0014389 polymerase proofreading-related adenomatous polyposis polymerase_proofreading_related_adenomatous_polyposis Polymerase Proofreading-Related Adenomatous Polyposis POLE MONDO:0018653 polymerase proofreading-related adenomatous polyposis polymerase_proofreading_related_adenomatous_polyposis Polymerase Proofreading-Related Adenomatous Polyposis POLD1 MONDO:0018653 polymicrogyria, bilateral perisylvian, x-linked polymicrogyria_bilateral_perisylvian_x_linked Polymicrogyria, Bilateral Perisylvian, X-Linked ADGRG1 MONDO:0010314 polymicrogyria, bilateral perisylvian, x-linked polymicrogyria_bilateral_perisylvian_x_linked Polymicrogyria, Bilateral Perisylvian, X-Linked PI4KA MONDO:0010314 pontocerebellar hypoplasia type 1 pontocerebellar_hypoplasia_type_1 Pontocerebellar Hypoplasia Type 1 VRK1 MONDO:0016396 pontocerebellar hypoplasia type 1 pontocerebellar_hypoplasia_type_1 Pontocerebellar Hypoplasia Type 1 EXOSC8 MONDO:0016396 pontocerebellar hypoplasia type 1 pontocerebellar_hypoplasia_type_1 Pontocerebellar Hypoplasia Type 1 RARS2 MONDO:0016396 pontocerebellar hypoplasia, type 2e pontocerebellar_hypoplasia_type_2e Pontocerebellar Hypoplasia, Type 2e TSEN54 MONDO:0014370 pontocerebellar hypoplasia, type 2e pontocerebellar_hypoplasia_type_2e Pontocerebellar Hypoplasia, Type 2e TSEN34 MONDO:0014370 pontocerebellar hypoplasia, type 2e pontocerebellar_hypoplasia_type_2e Pontocerebellar Hypoplasia, Type 2e TSEN15 MONDO:0014370 pontocerebellar hypoplasia, type 2e pontocerebellar_hypoplasia_type_2e Pontocerebellar Hypoplasia, Type 2e SEPSECS MONDO:0014370 pontocerebellar hypoplasia, type 2e pontocerebellar_hypoplasia_type_2e Pontocerebellar Hypoplasia, Type 2e TSEN2 MONDO:0014370 porokeratosis 1, multiple types porokeratosis_1_multiple_types Porokeratosis 1, Multiple Types MVK MONDO:0008290 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 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 MONDO:0000209 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 MONDO:0000209 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 MONDO:0017833 primary hypereosinophilic syndrome primary_hypereosinophilic_syndrome Primary Hypereosinophilic Syndrome PDGFRA MONDO:0017833 primary hypereosinophilic syndrome primary_hypereosinophilic_syndrome Primary Hypereosinophilic Syndrome FIP1L1 MONDO:0017833 primary hypereosinophilic syndrome primary_hypereosinophilic_syndrome Primary Hypereosinophilic Syndrome FGFR1 MONDO:0017833 primary hypereosinophilic syndrome primary_hypereosinophilic_syndrome Primary Hypereosinophilic Syndrome ETV6 MONDO:0017833 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 MONDO:0018320 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 MONDO:0018320 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 MONDO:0009783 progressive non-fluent aphasia progressive_non_fluent_aphasia Progressive Non-Fluent Aphasia PSEN1 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 MONDO:0013626 pulmonary hypertension, primary, 1 pulmonary_hypertension_primary_1 Pulmonary Hypertension, Primary, 1 MIR204 MONDO:0024533 pulmonary venoocclusive disease 1, autosomal dominant pulmonary_venoocclusive_disease_1_autosomal_dominant Pulmonary Venoocclusive Disease 1, Autosomal Dominant EIF2AK4 MONDO:0020713 pustulosis palmaris et plantaris pustulosis_palmaris_et_plantaris Pustulosis Palmaris Et Plantaris IL36RN MONDO:0015597 pustulosis palmaris et plantaris pustulosis_palmaris_et_plantaris Pustulosis Palmaris Et Plantaris AP1S3 MONDO:0015597 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 MONDO:0012154 rare isolated myopia rare_isolated_myopia Rare Isolated Myopia LRPAP1 MONDO:0012154 rare isolated myopia rare_isolated_myopia Rare Isolated Myopia P3H2 MONDO:0012154 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 MONDO:0018663 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 MONDO:0005086 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary MIR200C MONDO:0005086 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary DIRC3 MONDO:0005086 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary MIR584 MONDO:0005086 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary MIR141 MONDO:0005086 renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated SFPQ MONDO:0010456 renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated TFEB MONDO:0010456 renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated PRCC MONDO:0010456 renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated NONO MONDO:0010456 renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated ASPSCR1 MONDO:0010456 renal cell carcinoma, xp11-associated renal_cell_carcinoma_xp11_associated Renal Cell Carcinoma, Xp11-Associated CLTC MONDO:0010456 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 MONDO:0019107 rh-null, regulator type rh_null_regulator_type Rh-Null, Regulator Type RHCE MONDO:0019107 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis MIR150 MONDO:0008383 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis MIR132 MONDO:0008383 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 MONDO:0016369 schizophrenia schizophrenia Schizophrenia MIR198 MONDO:0005090 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 MONDO:0015293 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 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 MONDO:0015735 severe congenital nemaline myopathy severe_congenital_nemaline_myopathy Severe Congenital Nemaline Myopathy KLHL41 MONDO:0015735 severe congenital nemaline myopathy severe_congenital_nemaline_myopathy Severe Congenital Nemaline Myopathy KLHL40 MONDO:0015735 severe congenital nemaline myopathy severe_congenital_nemaline_myopathy Severe Congenital Nemaline Myopathy ACTA1 MONDO:0015735 severe congenital neutropenia autosomal dominant severe_congenital_neutropenia_autosomal_dominant Severe Congenital Neutropenia Autosomal Dominant GFI1 MONDO:0008742 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 MONDO:0019549 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 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 MONDO:0008831 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 MONDO:0008831 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 MONDO:0008831 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 MONDO:0005093 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung TP73 MONDO:0008433 small cell cancer of the lung small_cell_cancer_of_the_lung Small Cell Cancer of the Lung MIR21 MONDO:0008433 smarca4-deficient sarcoma of thorax smarca4_deficient_sarcoma_of_thorax Smarca4-Deficient Sarcoma of Thorax SMARCA4 MONDO:0018761 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 MONDO:0019349 spastic paraplegia-paget disease of bone syndrome spastic_paraplegia_paget_disease_of_bone_syndrome Spastic Paraplegia-Paget Disease of Bone Syndrome VCP MONDO:0018005 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 MONDO:0018450 spinocerebellar ataxia 18 spinocerebellar_ataxia_18 Spinocerebellar Ataxia 18 IFRD1 MONDO:0011834 spinocerebellar ataxia with axonal neuropathy type 2 spinocerebellar_ataxia_with_axonal_neuropathy_type_2 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 SETX MONDO:0018996 spinocerebellar ataxia with axonal neuropathy type 2 spinocerebellar_ataxia_with_axonal_neuropathy_type_2 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 PIK3R5 MONDO:0018996 spinocerebellar ataxia, autosomal recessive 3 spinocerebellar_ataxia_autosomal_recessive_3_2 Spinocerebellar Ataxia, Autosomal Recessive 3 SLC52A2 MONDO:0010061 spinocerebellar ataxia, autosomal recessive 3 spinocerebellar_ataxia_autosomal_recessive_3_2 Spinocerebellar Ataxia, Autosomal Recessive 3 PEX6 MONDO:0010061 spinocerebellar ataxia, x-linked 1 spinocerebellar_ataxia_x_linked_1 Spinocerebellar Ataxia, X-Linked 1 GJB1 MONDO:0010547 spinocerebellar ataxia, x-linked 5 spinocerebellar_ataxia_x_linked_5 Spinocerebellar Ataxia, X-Linked 5 ATP2B3 MONDO:0010404 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 spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration spondyloepimetaphyseal_dysplasia_x_linked_with_mental_deterioration_2 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration AIFM1 MONDO:0010275 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 MONDO:0010150 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 MONDO:0017193 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 MONDO:0013743 systemic lupus erythematosus 16 systemic_lupus_erythematosus_16 Systemic Lupus Erythematosus 16 DNASE1 MONDO:0013743 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 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 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, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 MIR197 MONDO:0005034 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 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 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 MONDO:0018763 tubulinopathy-associated dysgyria tubulinopathy_associated_dysgyria Tubulinopathy-Associated Dysgyria TUBB2B MONDO:0018763 tubulinopathy-associated dysgyria tubulinopathy_associated_dysgyria Tubulinopathy-Associated Dysgyria TUBA1A MONDO:0018763 typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy NEB MONDO:0015737 typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy TPM2 MONDO:0015737 typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy LMOD3 MONDO:0015737 typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy KLHL41 MONDO:0015737 typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy CFL2 MONDO:0015737 typical congenital nemaline myopathy typical_congenital_nemaline_myopathy Typical Congenital Nemaline Myopathy ACTA1 MONDO:0015737 typical urticaria pigmentosa typical_urticaria_pigmentosa Typical Urticaria Pigmentosa KIT 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 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy SLC1A2 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy SCN8A MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy PPP3CA MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy NTRK2 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy NUS1 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy SYNJ1 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy WWOX MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy YWHAG MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy UBA5 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy TRAK1 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy SZT2 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy AARS MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy NECAP1 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy CNKSR2 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy DHDDS MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy CLTC MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy CACNA1A MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy AP3B2 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy KCNB1 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy DNM1 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy HCN1 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy KCNA2 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy EEF1A2 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy GRIN2D MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy GABRB2 MONDO:0018614 undetermined early-onset epileptic encephalopathy undetermined_early_onset_epileptic_encephalopathy Undetermined Early-Onset Epileptic Encephalopathy FGF12 MONDO:0018614 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 van maldergem syndrome 1 van_maldergem_syndrome_1 Van Maldergem Syndrome 1 FAT4 variant abeta2m amyloidosis variant_abeta2m_amyloidosis Variant Abeta2m Amyloidosis B2M west syndrome west_syndrome West Syndrome NTRK2 MONDO:0018097 west syndrome west_syndrome West Syndrome PIGA MONDO:0018097 west syndrome west_syndrome West Syndrome SIK1 MONDO:0018097 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 MONDO:0018495 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 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability RAB39B MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability PAK3 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability ACSL4 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability MID2 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability SYP MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability TSPAN7 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability ZNF711 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability ZNF81 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability USP9X MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability USP27X MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability UPF3B MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability IQSEC2 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability MECP2 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability ARX MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability IL1RAPL1 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability ARHGEF6 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability AGTR2 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability CNKSR2 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability CLCN4 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability DLG3 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability HCFC1 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability FTSJ1 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability GDI1 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability FRMPD4 MONDO:0019181 x-linked non-specific intellectual disability x_linked_non_specific_intellectual_disability X-Linked Non-Specific Intellectual Disability DMD MONDO:0019181 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 MONDO:0019586 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 MONDO:0019586 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 MONDO:0019586 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 zygodactyly type 3 zygodactyly_type_3 Zygodactyly Type 3 HOXD13 medulloblastoma medulloblastoma Medulloblastoma APC MONDO:0007959 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NDUFAF5 MONDO:0009723 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome SETBP1 MONDO:0018881 schizophrenia schizophrenia Schizophrenia DISC2 MONDO:0005090 breast cancer breast_cancer Breast Cancer ABRAXAS1 MONDO:0004989 fetal akinesia deformation sequence fetal_akinesia_deformation_sequence Fetal Akinesia Deformation Sequence TUBB2B MONDO:0008824 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent SLC2A4 MONDO:0005148 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset PRKN MONDO:0005180 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency NDUFAF6 MONDO:0009640 schizophrenia schizophrenia Schizophrenia DISC1 MONDO:0005090 leukemia, acute lymphoblastic leukemia_acute_lymphoblastic Leukemia, Acute Lymphoblastic PAX5 MONDO:0013108 myelodysplastic syndrome myelodysplastic_syndrome Myelodysplastic Syndrome U2AF1 MONDO:0018881 atrial standstill 1 atrial_standstill_1 Atrial Standstill 1 SCN5A MONDO:0007171 hypercholesterolemia, familial hypercholesterolemia_familial Hypercholesterolemia, Familial APOE MONDO:0005439 juvenile myelomonocytic leukemia juvenile_myelomonocytic_leukemia Juvenile Myelomonocytic Leukemia SETBP1 MONDO:0011908 colorectal cancer colorectal_cancer Colorectal Cancer MT-CO1 MONDO:0005575 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome NARS2 MONDO:0009723 lung cancer lung_cancer Lung Cancer MXRA5 MONDO:0005233 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 MONDO:0010777 alzheimer disease mitochondrial alzheimer_disease_mitochondrial Alzheimer Disease Mitochondrial MT-ND1 alzheimer disease mitochondrial alzheimer_disease_mitochondrial Alzheimer Disease Mitochondrial MT-ND2 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-ND6 MONDO:0009640 leigh syndrome leigh_syndrome_nuclear_dna_mutation Leigh Syndrome POLG MONDO:0009723 mitochondrial complex i deficiency mitochondrial_complex_i_deficiency Mitochondrial Complex I Deficiency MT-ND5 MONDO:0009640 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary SETD2 MONDO:0005086 squamous cell carcinoma, head and neck squamous_cell_carcinoma_head_and_neck Squamous Cell Carcinoma, Head and Neck ING3 MONDO:0010150 leukemia, acute myeloid leukemia_acute_myeloid Leukemia, Acute Myeloid SETBP1 MONDO:0018874 basal cell carcinoma 1 basal_cell_carcinoma_1 Basal Cell Carcinoma 1 PTCH1 glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 H3F3A MONDO:0024498 glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 IDH2 MONDO:0024498 glioma susceptibility 1 glioma_susceptibility_1 Glioma Susceptibility 1 HIST1H3A MONDO:0024498 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 MONDO:0008300 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 H19 MONDO:0019004 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome NPAP1 MONDO:0008300 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome MKRN3-AS1 MONDO:0008300 diabetes mellitus, noninsulin-dependent diabetes_mellitus_noninsulin_dependent Diabetes Mellitus, Noninsulin-Dependent CDKAL1 MONDO:0005148 noonan syndrome 1 noonan_syndrome_1 Noonan Syndrome 1 MAP2K1 MONDO:0018997 schizophrenia schizophrenia Schizophrenia DAOA MONDO:0005090 lung cancer lung_cancer Lung Cancer RASSF1 MONDO:0005233 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 MONDO:0016971 lung cancer lung_cancer Lung Cancer DLEC1 MONDO:0005233 alpha-ketoglutarate dehydrogenase deficiency alpha_ketoglutarate_dehydrogenase_deficiency Alpha-Ketoglutarate Dehydrogenase Deficiency OGDH MONDO:0008759 renal cell carcinoma, nonpapillary renal_cell_carcinoma_nonpapillary Renal Cell Carcinoma, Nonpapillary DIRC2 MONDO:0005086 williams-beuren syndrome williams_beuren_syndrome Williams-Beuren Syndrome ELN MONDO:0008678 novelty seeking personality trait novelty_seeking_personality_trait Novelty Seeking Personality Trait DRD4 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 MONDO:0100087 human immunodeficiency virus type 1 human_immunodeficiency_virus_type_1 Human Immunodeficiency Virus Type 1 CCL3 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis CIITA MONDO:0008383 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 MONDO:0013493 autism 9 autism_9 Autism 9 MET schizophrenia schizophrenia Schizophrenia AKT1 MONDO:0005090 asthma asthma Asthma HLA-G MONDO:0004979 facioscapulohumeral muscular dystrophy 1 facioscapulohumeral_muscular_dystrophy_1 Facioscapulohumeral Muscular Dystrophy 1 FRG1 MONDO:0001347 limb-girdle muscular dystrophy limb_girdle_muscular_dystrophy Limb-Girdle Muscular Dystrophy SGCB MONDO:0016971 retinitis pigmentosa retinitis_pigmentosa Retinitis Pigmentosa AIPL1 MONDO:0019200 schizophrenia schizophrenia Schizophrenia APOL2 MONDO:0005090 williams-beuren syndrome williams_beuren_syndrome Williams-Beuren Syndrome MLXIPL MONDO:0008678 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome IGF2 MONDO:0007534 helicobacter pylori infection helicobacter_pylori_infection Helicobacter Pylori Infection PTPRZ1 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome MAGEL2 MONDO:0008300 schizophrenia schizophrenia Schizophrenia APOL4 MONDO:0005090 alcohol dependence alcohol_dependence Alcohol Dependence TAS2R16 MONDO:0007079 schizophrenia schizophrenia Schizophrenia DTNBP1 MONDO:0005090 xeroderma pigmentosum, variant type xeroderma_pigmentosum_variant_type Xeroderma Pigmentosum, Variant Type ERCC1 MONDO:0010214 cleft palate, isolated cleft_palate_isolated Cleft Palate, Isolated UBB MONDO:0016064 melorheostosis melorheostosis Melorheostosis LEMD3 MONDO:0007970 hypertension, essential hypertension_essential Hypertension, Essential ATP1B1 MONDO:0001134 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis SLC22A4 MONDO:0008383 breast cancer breast_cancer Breast Cancer NQO2 MONDO:0004989 hypertension, essential hypertension_essential Hypertension, Essential NOS2 MONDO:0001134 limb-girdle muscular dystrophy limb_girdle_muscular_dystrophy Limb-Girdle Muscular Dystrophy SGCD MONDO:0016971 schizophrenia schizophrenia Schizophrenia DAO MONDO:0005090 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 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 MONDO:0001134 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 central precocious puberty central_precocious_puberty Central Precocious Puberty KISS1R rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis PADI4 MONDO:0008383 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis NFKBIL1 MONDO:0008383 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis HLA-DRB1 MONDO:0008383 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis CD244 MONDO:0008383 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome MKRN3 MONDO:0008300 rheumatoid arthritis rheumatoid_arthritis Rheumatoid Arthritis IL10 MONDO:0008383 neurilemmomatosis neurilemmomatosis Neurilemmomatosis LZTR1 MONDO:0008075 deafness-infertility syndrome deafness_infertility_syndrome Deafness-Infertility Syndrome STRC tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCC MONDO:0008586 asthma asthma Asthma PHF11 MONDO:0004979 thrombophilia thrombophilia Thrombophilia MTHFR MONDO:0002305 autism spectrum disorder autism_spectrum_disorder Autism Spectrum Disorder SHANK2 MONDO:0005258 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MORC2 MONDO:0015626 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset SNCAIP MONDO:0005180 epilepsy, idiopathic generalized epilepsy_idiopathic_generalized Epilepsy, Idiopathic Generalized ME2 MONDO:0005579 esophageal cancer esophageal_cancer Esophageal Cancer DLEC1 MONDO:0007576 thyroid cancer, nonmedullary, 2 thyroid_cancer_nonmedullary_2 Thyroid Cancer, Nonmedullary, 2 PTEN MONDO:0005034 alzheimer disease alzheimer_disease Alzheimer Disease APBB2 MONDO:0100087 aniridia 1 aniridia_1 Aniridia 1 WT1 MONDO:0019172 parkinson disease, late-onset parkinson_disease_late_onset Parkinson Disease, Late-Onset NR4A2 MONDO:0005180 velocardiofacial syndrome velocardiofacial_syndrome Velocardiofacial Syndrome DGCR6 MONDO:0008644 spinal muscular atrophy spinal_muscular_atrophy Spinal Muscular Atrophy GEMIN2 MONDO:0001516 multiminicore disease multiminicore_disease Multiminicore Disease SELENON congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome SLC5A7 MONDO:0018940 thrombocytopenia 2 thrombocytopenia_2 Thrombocytopenia 2 MASTL MONDO:0008555 essential pentosuria essential_pentosuria Essential Pentosuria DCXR MONDO:0009846 deafness, aminoglycoside-induced deafness_aminoglycoside_induced Deafness, Aminoglycoside-Induced MT-TS1 MONDO:0010799 lennox-gastaut syndrome lennox_gastaut_syndrome Lennox-Gastaut Syndrome MAPK10 MONDO:0016532 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 MONDO:0009364 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 velocardiofacial syndrome velocardiofacial_syndrome Velocardiofacial Syndrome DGCR2 MONDO:0008644 velocardiofacial syndrome velocardiofacial_syndrome Velocardiofacial Syndrome ESS2 MONDO:0008644 galloway-mowat syndrome galloway_mowat_syndrome Galloway-Mowat Syndrome ZNF592 MONDO:0009627 basal cell carcinoma, multiple basal_cell_carcinoma_multiple Basal Cell Carcinoma, Multiple PTCH1 spinal muscular atrophy spinal_muscular_atrophy Spinal Muscular Atrophy SMNDC1 MONDO:0001516 collagen vi-related myopathy collagen_vi_related_myopathy Collagen Vi-Related Myopathy COL6A1 alzheimer disease alzheimer_disease Alzheimer Disease BLMH MONDO:0100087 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease DCTN2 MONDO:0015626 beckwith-wiedemann syndrome beckwith_wiedemann_syndrome Beckwith-Wiedemann Syndrome H19-ICR MONDO:0007534 deafness, nonsyndromic sensorineural, mitochondrial deafness_nonsyndromic_sensorineural_mitochondrial Deafness, Nonsyndromic Sensorineural, Mitochondrial MT-CO1 MONDO:0010779 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic SPINK5 MONDO:0007817 primary familial brain calcification primary_familial_brain_calcification Primary Familial Brain Calcification SLC20A2 dyslexia 2 dyslexia_2 Dyslexia 2 KIAA0319 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TMEM138 MONDO:0008944 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic PHF11 MONDO:0007817 primary familial brain calcification primary_familial_brain_calcification Primary Familial Brain Calcification PDGFRB tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula CHD7 MONDO:0008586 parkinson disease 21 parkinson_disease_21 Parkinson Disease 21 DNAJC13 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula BRIP1 MONDO:0008586 primary familial brain calcification primary_familial_brain_calcification Primary Familial Brain Calcification PDGFB tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCA MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula SOX2 MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula MYCN MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula GLI3 MONDO:0008586 testicular microlithiasis testicular_microlithiasis Testicular Microlithiasis SLC34A2 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive neuropathy_congenital_hypomyelinating_or_amyelinating_autosomal_recessive Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive SBF1 MONDO:0011527 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic HAVCR1 MONDO:0007817 li-fraumeni syndrome li_fraumeni_syndrome Li-Fraumeni Syndrome CHEK2 MONDO:0018875 thrombophilia thrombophilia Thrombophilia F13A1 MONDO:0002305 autism spectrum disorder autism_spectrum_disorder Autism Spectrum Disorder PTCHD1 MONDO:0005258 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome PWRN1 MONDO:0008300 alzheimer disease alzheimer_disease Alzheimer Disease ACE MONDO:0100087 autism spectrum disorder autism_spectrum_disorder Autism Spectrum Disorder RPL10 MONDO:0005258 thrombophilia thrombophilia Thrombophilia HABP2 MONDO:0002305 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome MYO9A MONDO:0018940 pancreatic cancer pancreatic_cancer Pancreatic Cancer BRCA2 MONDO:0005192 wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 IGF2 MONDO:0019004 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome SNORD116-1 MONDO:0008300 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome PWAR1 MONDO:0008300 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TMEM231 MONDO:0008944 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome SNORD115-1 MONDO:0008300 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in TMEM165 MONDO:0015286 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TCTN3 MONDO:0008944 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease DRP2 MONDO:0015626 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in PGM1 MONDO:0015286 velocardiofacial syndrome velocardiofacial_syndrome Velocardiofacial Syndrome DGCR8 MONDO:0008644 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in SSR4 MONDO:0015286 non-syndromic x-linked intellectual disability non_syndromic_x_linked_intellectual_disability Non-Syndromic X-Linked Intellectual Disability NEXMIF MONDO:0019181 esophageal cancer esophageal_cancer Esophageal Cancer Dec-01 MONDO:0007576 hypertension, essential hypertension_essential Hypertension, Essential SELE MONDO:0001134 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease CNTNAP1 MONDO:0015626 williams-beuren syndrome williams_beuren_syndrome Williams-Beuren Syndrome GTF2I MONDO:0008678 joubert syndrome 1 joubert_syndrome_1_2 Joubert Syndrome 1 TTC21B MONDO:0008944 pancreatic cancer pancreatic_cancer Pancreatic Cancer CDKN2A MONDO:0005192 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in TUSC3 MONDO:0015286 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease MCM3AP MONDO:0015626 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in DPM2 MONDO:0015286 charcot-marie-tooth disease charcot_marie_tooth_disease Charcot-Marie-Tooth Disease SGPL1 MONDO:0015626 1q21.1 recurrent microdeletion 1q211_recurrent_microdeletion 1q21.1 Recurrent Microdeletion GJA8 1q21.1 recurrent microdeletion 1q211_recurrent_microdeletion 1q21.1 Recurrent Microdeletion GJA5 alcohol dependence alcohol_dependence Alcohol Dependence RCBTB1 MONDO:0007079 alzheimer disease alzheimer_disease Alzheimer Disease PAXIP1 MONDO:0100087 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 MONDO:0020667 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 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 MONDO:0015626 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 MONDO:0022762 chromosome 4p deletion chromosome_4p_deletion Chromosome 4p Deletion NSD2 MONDO:0022762 chromosome 4p deletion chromosome_4p_deletion Chromosome 4p Deletion FGFRL1 MONDO:0022762 chromosome 4p deletion chromosome_4p_deletion Chromosome 4p Deletion CTBP1 MONDO:0022762 chromosome 4p deletion chromosome_4p_deletion Chromosome 4p Deletion CPLX1 MONDO:0022762 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 MONDO:0015286 congenital disorder of glycosylation, type in congenital_disorder_of_glycosylation_type_in Congenital Disorder of Glycosylation, Type in MAGT1 MONDO:0015286 congenital myasthenic syndrome congenital_myasthenic_syndrome Congenital Myasthenic Syndrome SLC25A1 MONDO:0018940 conotruncal heart malformations conotruncal_heart_malformations Conotruncal Heart Malformations CFC1 MONDO:0016581 cornelia de lange syndrome 1 cornelia_de_lange_syndrome_1 Cornelia De Lange Syndrome 1 HDAC8 MONDO:0007387 coronary heart disease 1 coronary_heart_disease_1 Coronary Heart Disease 1 CX3CR1 deafness, x-linked 2 deafness_x_linked_2 Deafness, X-Linked 2 GJB6 dense deposit disease dense_deposit_disease Dense Deposit Disease DGKE disorders of intracellular cobalamin metabolism disorders_of_intracellular_cobalamin_metabolism Disorders of Intracellular Cobalamin Metabolism ABCD4 familial porphyria cutanea tarda familial_porphyria_cutanea_tarda Familial Porphyria Cutanea Tarda HFE MONDO:0008296 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 MONDO:0000992 hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness PRPS1 MONDO:0005365 hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness SMPX MONDO:0005365 hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness POU3F4 MONDO:0005365 hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness MT-RNR1 MONDO:0005365 hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness MT-TS1 MONDO:0005365 hereditary hearing loss and deafness hereditary_hearing_loss_and_deafness Hereditary Hearing Loss and Deafness MT-CO1 MONDO:0005365 hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic_hypoglycemia_familial_2_2 Hyperinsulinemic Hypoglycemia, Familial, 2 HNF4A hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia POLR3B MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia SEMA3E MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia SPRY4 MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia WDR11 MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia SRA1 MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia IL17RD MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia FLRT3 MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia CCDC141 MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia AXL MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia DUSP6 MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia FEZF1 MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia FGF17 MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia GNRH1 MONDO:0007794 ige responsiveness, atopic ige_responsiveness_atopic Ige Responsiveness, Atopic SELP MONDO:0007817 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 MONDO:0011908 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 martinez-frias syndrome martinez_frias_syndrome Martinez-Frias Syndrome RFX6 melanoma, cutaneous malignant 1 melanoma_cutaneous_malignant_1_2 Melanoma, Cutaneous Malignant 1 PTEN MONDO:0018961 mental retardation, x-linked 92 mental_retardation_x_linked_92_2 Mental Retardation, X-Linked 92 ZNF674 microphthalmia, syndromic 3 microphthalmia_syndromic_3_2 Microphthalmia, Syndromic 3 SIX6 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TR MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TQ MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TS1 MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TM MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TV MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TK MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TW MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TS2 MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-ND6 MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TY MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-ND4 MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-ND1 MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TA MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TC MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TF MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TD MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TH MONDO:0004069 mitochondrial disorders mitochondrial_disorders Mitochondrial Disorders MT-TT MONDO:0004069 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 MONDO:0009364 netherton syndrome netherton_syndrome Netherton Syndrome POLA1 MONDO:0010686 opioid dependence 1 opioid_dependence_1 Opioid Dependence 1 ME2 MONDO:0012402 panic disorder 1 panic_disorder_1 Panic Disorder 1 COMT MONDO:0008187 prader-willi syndrome prader_willi_syndrome Prader-Willi Syndrome HERC2 MONDO:0008300 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 MONDO:0012204 psoriasis 7 psoriasis_7 Psoriasis 7 IL23R ptosis, hereditary congenital 1 ptosis_hereditary_congenital_1_2 Ptosis, Hereditary Congenital 1 ZFHX4 spinal muscular atrophy, distal, autosomal recessive, 2 spinal_muscular_atrophy_distal_autosomal_recessive_2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 RAX2 MONDO:0011585 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 MONDO:0008493 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 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCB MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula ERCC4 MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCE MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCL MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCI MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCG MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCF MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCD2 MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula MID1 MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula RAD51C MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula SLX4 MONDO:0008586 tracheoesophageal fistula tracheoesophageal_fistula Tracheoesophageal Fistula FANCM MONDO:0008586 vacterl association with hydrocephaly, x-linked vacterl_association_with_hydrocephaly_x_linked Vacterl Association with Hydrocephaly, X-Linked FANCB wilms tumor 1 wilms_tumor_1 Wilms Tumor 1 GPC4 MONDO:0019004