Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/List_of_OMIM_disorder_codes> ?p ?o }
- List_of_OMIM_disorder_codes abstract "This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information. Isolated 17,20-lyase deficiency; 202110; CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1 17-beta-hydroxysteroid dehydrogenase X deficiency; 300438; HSD17B10 2-methylbutyrylglycinuria; 610006; ACADSB 3-hydroxyacyl-coa dehydrogenase deficiency; 231530; HADHSC 3-hydroxyisobutryl-CoA hydrolase deficiency; 250620; HIBCH 3-M syndrome; 273750; CUL7 3-Methylcrotonyl-CoA carboxylase 1 deficiency; 210200; MCCC1 3-Methylcrotonyl-CoA carboxylase 2 deficiency; 210210; MCCC2 3-Methylglutaconic aciduria type I; 250950; AUH 3-Methylglutaconic aciduria type III; 258501; OPA3 3-Methylglutaconic aciduria type V; 610198; DNAJC19 46XX true hermaphroditism; 400045; SRY 46XY complete gonadal dysgenesis; 233420; DHH 46XY complete gonadal dysgenesis; 400044; SRY 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure; 612965; NR5A1 46XY gonadal dysgenesis, complete, CBS2-related; 613080; CBX2 46XY partial gonadal dysgenesis, with minifascicular neuropathy; 607080; DHH 5-fluorouracil toxicity; 274270; DPYD 6-mercaptopurine sensitivity; 610460; TPMT Aarskog-Scott syndrome; 305400; FGD1 ABCD syndrome; 600501; EDNRB Abetalipoproteinemia; 200100; MTP ACAD9 deficiency; 611126; ACAD9 Acampomelic campomelic dysplasia; 114290; SOX9 Achalasia-Addisonianism-Alacrimia syndrome; 231550; AAAS Acheiropody; 200500; LMBR1 Achondrogenesis Ib; 600972; SLC26A2 Achondrogenesis type 1A; 200600; TRIP11 Achondrogenesis-hypochondrogenesis type 2; 200610; COL2A1 Achondroplasia; 100800; FGFR3 Achromatopsia-2; 216900; CNGA3 Achromatopsia-3; 262300; CNGB3 Acrocallosal syndrome; 200990; GLI3 Acrocapitofemoral dysplasia; 607778; IHH Acrodermatitis enteropathica; 201100; SLC39A4 Acrokeratosis verruciformis; 101900; ATP2A2 Acromesomelic dysplasia, Hunter-Thompson type; 201250; GDF5 Acromesomelic dysplasia, Maroteaux type; 602875; NPR2 Action myoclonus-renal failure syndrome; 254900; SCARB2 Acyl-CoA dehydrogenase, long chain, deficiency of; 201460; ACADL Acyl-CoA dehydrogenase, medium chain, deficiency of; 201450; ACADM Acyl-CoA dehydrogenase, short chain, deficiency of; 201470; ACADS Adenocarcinoma of lung, response to tyrosine kinase inhibitor in; 211980; EGFR Adenocarcinoma of lung, somatic; 211980; BRAF Adenocarcinoma of lung, somatic; 211980; ERBB2 Adenocarcinoma of lung, somatic; 211980; PRKN Adenocarcinoma, ovarian, somatic; 604370; PRKN Adenomas, multiple colorectal; 608456; MUTYH Adenomas, salivary gland pleomorphic; 181030; PLAG1 Adenomatous polyposis coli; 175100; APC Adenosine deaminase deficiency, partial; 102700; ADA Adenosine triphosphate, elevated, of erythrocytes; 102900; PKLR Adenylosuccinase deficiency; 103050; ADSL Adiponectin deficiency; 612556; ADIPOQ Adrenal cortical carcinoma; 202300; TP53 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; 202010; CYP11B1 Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency; 201750; POR Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; 300200; DAX1 Adrenocorticotropic hormone deficiency; 201400; TBS19 Adrenoleukodystrophy; 300100; ABCD1 Adrenoleukodystrophy, neonatal; 202370; PEX1 Adrenoleukodystrophy, neonatal; 202370; PEX10 Adrenoleukodystrophy, neonatal; 202370; PEX13 Adrenoleukodystrophy, neonatal; 202370; PEX26 Adrenoleukodystrophy, neonatal; 202370; PEX5 Adrenomyeloneuropathy; 300100; ABCD1 Adult i phenotype with congenital cataract; 110800; GCNT2 Adult i phenotype without cataract; 110800; GCNT2 ADULT syndrome; 103285; TP63 Advanced sleep phase syndrome, familial; 604348; PER2 Afibrinogenemia, congenital; 202400; FGA Afibrinogenemia, congenital; 202400; FGB Agammaglobulinemia 1; 601495; IGHM Agammaglobulinemia 2; 613500; IGLL1 Agammaglobulinemia 4; 613502; BLNK Agammaglobulinemia 5; 613506; LRRC8A Agammaglobulinemia and isolated hormone deficiency; 307200; BTK Agammaglobulinemia, type 1, X-linked; 300755; BTK AGAT deficiency; 612718; GATM Agenesis of the corpus callosum with peripheral neuropathy; 218000; SLC12A6 Aicardi-Goutieres syndrome 1, dominant and recessive; 225750; TREX1 Aicardi-Goutieres syndrome 2; 610181; RNASEH2B Aicardi-Goutieres syndrome 3; 610329; RNASEH2C Aicardi-Goutieres syndrome 4; 610333; RNASEH2A Aicardi-Goutieres syndrome 5; 612952; SAMHD1 AICA-ribosiduria due to ATIC deficiency; 608688; ATIC Alagille syndrome 2; 610205; NOTCH2 Alagille syndrome; 118450; JAG1 Aland Island eye disease; 300600; CACNA1F Albinism, brown oculocutaneous; 203200; OCA2 Albinism, brown; 203290; TYRP1 Albinism, oculocutaneous, type IA; 203100; TYR Albinism, oculocutaneous, type IB; 606952; TYR Albinism, oculocutaneous, type II; 203200; OCA2 Albinism, rufous; 278400; TYRP1 Alcohol sensitivity, acute; 610251; ALDH2 Aldosteronism, glucocorticoid-remediable; 103900; CYP11B1 Alexander disease; 203450; GFAP Alexander disease; 203450; NDUFV1 Alkaptonuria; 203500; HGD Allan-Herndon-Dudley syndrome; 300523; SLC16A2 Alopecia universalis; 203655; HR Alopecia, neurologic defects, and endocrinopathy syndrome; 612079; RBM28 Alpers syndrome; 203700; POLG Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; 609889; RAG1 Alpha-2-plasmin inhibitor deficiency; 262850; PLI Alpha-ketoglutarate dehydrogenase deficiency; 203740; OGDH Alpha-methylacetoacetic aciduria; 203750; ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha-thalassemia mental retardation syndrome; 301040; ATRX Alport syndrome; 301050; COL4A5 Alport syndrome, autosomal recessive; 203780; COL4A3 Alport syndrome, autosomal recessive; 203780; COL4A4 Alstrom syndrome; 203800; ALMS1 Alternating hemiplegia of childhood; 104290; ATP1A2 Alveolar capillary dysplasia with misalignment of pulmonary veins; 265380; FOXF1 Alveolar soft part sarcoma; 606243; ASPSCR1 Alzheimer disease 1, familial; 104300; APP Alzheimer disease 6; 104300; AD6 Alzheimer disease 8; 104300; AD8 Alzheimer disease, late-onset, susceptibility to; 104300; NOS3 Alzheimer disease, type 3; 607822; PSEN1 Alzheimer disease, type 3, with spastic paraparesis and apraxia; 607822; PSEN1 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; 607822; PSEN1 Alzheimer disease-10; 104300; AD10 Alzheimer disease-2; 104310; APOE Alzheimer disease-4; 606889; PSEN2 Alzheimer disease-5; 104300; AD5 Amelogenesis imperfecta, hypomaturation type, IIA3; 613211; WDR72 Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; 104510; DLX3 Amelogenesis imperfecta, hypoplastic/hypomaturation type; 301200; AMELX Amelogenesis imperfecta, type 3; 130900; FAM83H Amelogenesis imperfecta, type IB; 104500; ENAM Amelogenesis imperfecta, type IC; 204650; ENAM Amelogenesis imperfecta, type IIA1; 204700; KLK4 Amelogenesis imperfecta, type IIA2; 612529; MMP20 Aminoacylase 1 deficiency; 609924; ACY1 Amish infantile epilepsy syndrome; 609056; SIAT9 Amyloidosis, 3 or more types; 105200; APOA1 Amyloidosis, Finnish type; 105120; GSN Amyloidosis, hereditary renal; 105200; FGA Amyloidosis, hereditary, transthyretin-related; 105210; TTR Amyloidosis, primary localized cutaneous; 105250; OSMR Amyloidosis, renal; 105200; LYZ Amyotrophic lateral sclerosis 10, with or without FTD; 612069; TARDBP Amyotrophic lateral sclerosis 11; 612577; FIG4 Amyotrophic lateral sclerosis 4, juvenile; 602433; SETX Amyotrophic lateral sclerosis 6, autosomal recessive; 608030; FUS Amyotrophic lateral sclerosis 8; 608627; VAPB Amyotrophic lateral sclerosis 9; 611895; ANG Amyotrophic lateral sclerosis, due to SOD1 deficiency; 105400; SOD1 Amyotrophic lateral sclerosis, juvenile; 205100; ALS2 Amyotrophy, hereditary neuralgic; 162100; 40430 Amytrophic lateral sclerosis 12; 613435; OPTN Anauxetic dysplasia; 607095; RMRP Androgen insensitivity; 300068; AR Androgen insensitivity, partial, with or without breast cancer; 312300; AR Anemia, congenital dyserythropoietic, type I; 224120; CDAN1 Anemia, dyserythropoietic congenital, type II; 224100; SEC23B Anemia, hemolytic, due to UMPH1 deficiency; 266120; NT5C3 Anemia, hemolytic, Rh-null, regulator type; 268150; RHAG Anemia, hypochromic microcytic; 206100; NRAMP2 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; GLRX5 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; SLC25A38 Anemia, sideroblastic, with ataxia; 301310; ABCB7 Anemia, sideroblastic, X-linked; 300751; ALAS2 Angelman syndrome; 105830; MECP2 Angelman syndrome; 105830; UBE3A Angelman syndrome-like; 105830; CDKL5 Angioedema, hereditary, type III; 610618; F12 Angioedema, hereditary, types I and II; 106100; C1NH Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; 611773; COL4A1 Aniridia; 106210; PAX6 Anonychia congenita; 206800; RSPO4 Anterior segment mesenchymal dysgenesis; 107250; FOXE3 Anterior segment mesenchymal dysgenesis; 107250; PITX3 Antithrombin III deficiency; 613118; AT3 Antley-Bixler syndrome; 207410; FGFR2 Antley-Bixler syndrome-like with disordered steroidogenesis; 201750; POR Anxiety-related personality traits; 607834; SLC6A4 Aortic aneurysm, familial thoracic 4; 132900; MYH11 Aortic aneurysm, familial thoracic 6; 611788; ACTA2 Aortic valve disease; 109730; NOTCH1 Apert syndrome; 101200; FGFR2 Aphakia, congenital primary; 610256; FOXE3 Aplasia of lacrimal and salivary glands; 180920; FGF10 Aplastic anemia; 609135; TERC Argininemia; 207800; ARG1 Argininosuccinic aciduria; 207900; ASL Aromatase deficiency; 613546; CYP19A1 Aromatase excess syndrome; 139300; CYP19A1 Aromatic L-amino acid decarboxylase deficiency; 608643; DDC Arrhythmogenic right ventricular dysplasia 1; 107970; TGFB3 Arrhythmogenic right ventricular dysplasia 2; 600996; RYR2 Arrhythmogenic right ventricular dysplasia 5; 604400; LAMR1 Arrhythmogenic right ventricular dysplasia 8; 607450; DSP Arrhythmogenic right ventricular dysplasia, familial, 10; 610193; DSG2 Arrhythmogenic right ventricular dysplasia, familial, 11; 610476; DSC2 Arrhythmogenic right ventricular dysplasia, familial, 12; 611528; JUP Arrhythmogenic right ventricular dysplasia, familial, 5; 604400; TMEM43 Arrhythmogenic right ventricular dysplasia, familial, 9; 609040; PKP2 Arterial calcification, generalized, of infancy; 208000; ENPP1 Arterial tortuosity syndrome; 208050; SLC2A10 Arthrogryposis multiplex congenita, distal type 1; 108120; TPM2 Arthrogryposis multiplex congenita, distal type 2B; 601680; TNNI2 Arthrogryposis, distal, type 2A; 193700; MYH3 Arthrogryposis, distal, type 2B; 601680; MYH3 Arthrogryposis, distal, type 2B; 601680; TPM2 Arthrogryposis, lethal, with anterior horn cell disease; 611890; GLE1 Arthrogryposis, renal dysfunction, and cholestasis 1; 208085; VPS33B Arthrogryposis, renal dysfunction, and cholestasis 2; 613404; VIPAR Arthropathy, progressive pseudorheumatoid, of childhood; 208230; WISP3 Arthyrgryposis, distal, type 2B; 601680; TNNT3 Arts syndrome; 301835; PRPS1 Aspartylglucosaminuria; 208400; AGA Asphyxiating thoracic dystrophy 2; 611263; IFT80 Asphyxiating thoracic dystrophy 3; 613091; DYNC2H1 Asthma and nasal polyps; 208550; TBX21 Ataxia with isolated vitamin E deficiency; 277460; TTPA Ataxia, cerebellar, Cayman type; 601238; ATCAY Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; 208920; APTX Ataxia-ocular apraxia-2; 606002; SETX Ataxia-telangiectasia; 208900; ATM Ataxia-telangiectasia-like disorder; 604391; MRE11A Atelosteogenesis II; 256050; SLC26A2 Atelosteogenesis, type III; 108721; FLNB Atelostogenesis, type I; 108720; FLNB Athabaskan brainstem dysgenesis syndrome; 601536; HOXA1 Atopy; 147050; SPINK5 ATP synthase deficiency, nuclear-encoded; 604273; ATPAF2 Atransferrinemia; 209300; TF Atrial fibrillation; 608583; GJA5 Atrial fibrillation, familial, 3; 607554; KCNQ1 Atrial fibrillation, familial, 4; 611493; KCNE2 Atrial fibrillation, familial, 6; 612201; NPPA Atrial fibrillation, familial, 7; 612240; KCNA5 Atrial septal defect 4; 611363; TBX20 Atrial septal defect 5; 612794; ACTC1 Atrial septal defect 6; 613087; TLL1 Atrial septal defect with atrioventricular conduction defects; 108900; NKX2E Atrial septal defect-2; 607941; GATA4 Atrichia with papular lesions; 209500; HR Atrioventricular canal defect; 600309; AVSD1 Atrioventricular septal defect; 600309; GJA1 Atrioventricular septal defect, partial, with heterotaxy syndrome; 606217; CRELD1 Auditory neuropathy, autosomal recessive, 1; 601071; OTOF Autoimmune disease, syndromic multisystem; 613385; ITCH Autoimmune lymphoproliferative syndrome, type IA; 601859; TNFRSF6 Autoimmune lymphoproliferative syndrome, type II; 603909; CASP10 Autoimmune lymphoproliferative syndrome, type IIB; 607271; CASP8 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia; 240300; AIRE Axenfeld-Rieger syndrome, type 1; 180500; PITX2 Axenfeld-Rieger syndrome, type 3; 602482; FOXC1 Azoospermia due to perturbations of meiosis; 270960; SYCP3 Azoospermia; 415000; USP9Y Baller-Gerold syndrome; 218600; RECQL4 Bamforth-Lazarus syndrome; 241850; FOXE1 Bannayan-Riley-Ruvalcaba syndrome; 153480; PTEN Bardet-Biedl syndrome 1; 209900; BBS1 Bardet-Biedl syndrome 10; 209900; BBS10 Bardet-Biedl syndrome 11; 209900; TRIM32 Bardet-Biedl syndrome 12; 209900; BBS12 Bardet-Biedl syndrome 13; 209900; MKS1 Bardet-Biedl syndrome 14; 209900; CEP290 Bardet-Biedl syndrome 15; 209900; C2orf86 Bardet-Biedl syndrome 2; 209900; BBS2 Bardet-Biedl syndrome 3; 209900; ARL6 Bardet-Biedl syndrome 4; 209900; BBS4 Bardet-Biedl syndrome 5; 209900; BBS5 Bardet-Biedl syndrome 6; 209900; MKKS Bardet-Biedl syndrome 7; 209900; BBS7 Bardet-Biedl syndrome 8; 209900; TTC8 Bardet-Biedl syndrome 9; 209900; PTHB1 Bare lymphocyte syndrome, type I; 604571; TAP1 Bare lymphocyte syndrome, type I; 604571; TAPBP Bare lymphocyte syndrome, type I, due to TAP2 deficiency; 604571; TAP2 Bare lymphocyte syndrome, type II, complementation group A; 209920; MHC2TA Bare lymphocyte syndrome, type II, complementation group C; 209920; RFX5 Bare lymphocyte syndrome, type II, complementation group D; 209920; RFXAP Bare lymphocyte syndrome, type II, complementation group E; 209920; RFX5 Barth syndrome; 302060; TAZ Bart-Pumphrey syndrome; 149200; GJB2 Bartter syndrome, type 1; 601678; SLC12A1 Bartter syndrome, type 2; 241200; KCNJ1 Bartter syndrome, type 3; 607364; CLCNKB Bartter syndrome, type 4, digenic; 602522; CLCNKB Bartter syndrome, type 4a; 602522; BSND Bartter syndrome, type 4b, digenic; 613090; CLCNKA Basal cell carcinoma, somatic; 605462; PTCH1 Basal cell carcinoma, somatic; 605462; PTCH2 Basal cell carcinoma, somatic; 605462; RASA1 Basal cell nevus syndrome; 109400; PTCH1 Basal ganglia disease, biotin-responsive; 607483; SLC19A3 Basal laminar drusen; 126700; HF1 BCG and salmonella infection, disseminated; 209950; IL12B BCG infection, generalized familial; 209950; IFNGR1 Beare-Stevenson cutis gyrata syndrome; 123790; FGFR2 Becker muscular dystrophy; 300376; DMD Beckwith-Wiedemann syndrome; 130650; CDKN1C Beckwith-Wiedemann syndrome; 130650; H19 Beckwith-Wiedemann syndrome; 130650; KCNQ10T1 Beckwith-Wiedemann syndrome; 130650; NSD1 Bernard-Soulier syndrome, benign autosomal dominant; 153670; GP1BA Bernard-Soulier syndrome, type A; 231200; GP1BA Bernard-Soulier syndrome, type B; 231200; GP1BB Bernard-Soulier syndrome, type C; 231200; GP9 Best macular dystrophy; 153700; BEST1 Bestrophinopathy; 611809; BEST1 Beta-ureidopropionase deficiency; 613161; UPB1 Bethlem myopathy; 158810; COL6A1 Bethlem myopathy; 158810; COL6A2 Bethlem myopathy; 158810; COL6A3 Bietti crystalline corneoretinal dystrophy; 210370; CYP4V2 Bifid nose with or without anorectal and renal anomalies; 608980; FREM1 Bile acid malabsorption, primary; 613291; SLC10A2 Bile acid synthesis defect, congenital, 2; 235555; AKR1D1 Bile acid synthesis defect, congenital, 4; 214950; AMACR Biotinidase deficiency; 253260; BTD Birk-Barel mental retardation dysmorphism syndrome; 612292; KCNK9 Birt-Hogg-Dube syndrome; 135150; FLCN Bjornstad syndrome; 262000; BCS1L Bladder cancer; 109800; KRAS Bladder cancer; 109800; RB1 Bladder cancer, somatic; 109800; FGFR3 Blau syndrome; 186580; NOD2 Bleeding disorder due to P2RY12 defect; 609821; P2RY12 Blepharophimosis, epicanthus inversus, and ptosis, type 1; 110100; FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 2; 110100; FOXL2 Blood group--Lutheran inhibitor; 111150; KLF1 Bloom syndrome; 210900; RECQL3 Blue cone monochromacy; 303700; OPN1MW Blue-cone monochromacy; 303700; OPN1LW Boomerang dysplasia; 112310; FLNB Borjeson-Forssman-Lehmann syndrome; 301900; PHF6 Bosley-Salih-Alorainy syndrome; 601536; HOXA1 Bothnia retinal dystrophy; 607475; RLBP1 Bowen-Conradi syndrome; 211180; EMG1 Brachiootic syndrome 3; 608389; SIX1 Brachydactyly type A1; 112500; BDA1B Brachydactyly type A1; 112500; IHH Brachydactyly type A2; 112600; BMPR1B Brachydactyly type A2; 112600; GDF5 Brachydactyly type B1; 113000; ROR2 Brachydactyly type B2; 611377; NOG Brachydactyly type C; 113100; GDF5 Brachydactyly type D; 113200; HOXD13 Brachydactyly type E; 113300; HOXD13 Brachydactyly type E2; 613382; PTHLH Brachydactyly-syndactyly syndrome; 610713; HOXD13 Brachyolmia type 3; 113500; TRPV4 Bradyopsia; 608415; RGS9 Bradyopsia; 608415; RGS9BP Brain small vessel disease with Axenfeld-Rieger anomaly; 607595; COL4A1 Brain small vessel disease with hemorrhage; 607595; COL4A1 Branchiooculofacial syndrome; 113620; TFAP2A Branchiootorenal syndrome 2; 610896; SIX5 Branchiootorenal syndrome with cataract; 113650; EYA1 Branchiootorenal syndrome; 113650; EYA1 Breast cancer; 114480; PPM1D Breast cancer; 114480; SLC22A1L Breast cancer; 114480; TP53 Breast cancer, early-onset; 114480; BRIP1 Breast cancer, invasive ductal; 114480; RAD54L Breast cancer, somatic; 114480; AKT1 Breast cancer, somatic; 114480; KRAS Breast cancer, somatic; 114480; PIK3CA Breast cancer, somatic; 114480; RB1CC1 Brittle cornea syndrome; 229200; ZNF469 Brody myopathy; 601003; ATP2A1 Bronchiectasis with or without elevated sweat chloride 1; 211400; SCNN1B Bronchiectasis with or without elevated sweat chloride 2; 613021; SCNN1A Bronchiectasis with or without elevated sweat chloride 3; 613071; SCNN1G Brooke-Spiegler syndrome; 605041; CYLD1 Brown-Vialetto-Van Laere syndrome; 211530; C20orf54 Bruck syndrome 2; 609220; PLOD2 Brugada syndrome 1; 601144; SCN5A Brugada syndrome 2; 611777; GPD1L Brugada syndrome 3; 611875; CACNA1C Brugada syndrome 4; 611876; CACNB2 Brugada syndrome 5; 612838; SCN1B Brugada syndrome 6; 613119; KCNE3 Brugada syndrome 7; 613120; SCN3B Brugada syndrome 8; 613123; HCN4 Brunner syndrome; 300615; MAOA Burkitt lymphoma; 113970; MYC Buschke-Ollendorff syndrome; 166700; LEMD3 C syndrome; 211750; CD96 C5 deficiency; 609536; C5 C6 deficiency; 612446; C6 C7 deficiency; 610102; C7 Caffey disease; 114000; COL1A1 Campomelic dysplasia with autosomal sex reversal; 114290; SOX9 Campomelic dysplasia; 114290; SOX9 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; 208250; PRG4 Camurati-Engelmann disease; 131300; TGFB1 Canavan disease; 271900; ASPA Candidiasis, familial chronic mucocutaneous, autosomal dominant; 613108; CLEC7A Candidiasis, familial chronic mucocutaneous, autosomal recessive; 212050; CARD9 Capillary malformation-arteriovenous malformation; 608354; RASA1 Carbamoyl phosphate synthetase I deficiency; 237300; CPS1 Carbohydrate-deficient glycoprotein syndrome, type Ib; 602579; MPI Carboxypeptidase N deficiency; 212070; CPN1 Carcinoid tumors, intestinal; 114900; SDHD Cardiac arrhythmia, ankyrin-B-related; 600919; ANK2 Cardiac conduction defect, nonspecific; 612838; SCN1B Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; 604377; SCO2 Cardiofaciocutaneous syndrome; 115150; BRAF Cardiofaciocutaneous syndrome; 115150; KRAS Cardiofaciocutaneous syndrome; 115150; MAP2K1 Cardiofaciocutaneous syndrome; 115150; MAP2K2 Cardiomyopathy, dilated 1C; 601493; LDB3 Cardiomyopathy, dilated; 115200; MYBPC3 Cardiomyopathy, dilated, 1A; 115200; LMNA Cardiomyopathy, dilated, 1AA; 612158; ACTN2 Cardiomyopathy, dilated, 1BB; 612877; DSG2 Cardiomyopathy, dilated, 1CC; 613122; NEXN Cardiomyopathy, dilated, 1D; 601494; TNNT2 Cardiomyopathy, dilated, 1DD; 613172; RBM20 Cardiomyopathy, dilated, 1E; 601154; SCN5A Cardiomyopathy, dilated, 1EE; 613252; MYH6 Cardiomyopathy, dilated, 1FF; 613286; TNNI3 Cardiomyopathy, dilated, 1G; 604145; TTN Cardiomyopathy, dilated, 1GG; 613642; SDHA Cardiomyopathy, dilated, 1I; 604765; DES Cardiomyopathy, dilated, 1J; 605362; EYA4 Cardiomyopathy, dilated, 1L; 606685; SGCD Cardiomyopathy, dilated, 1M; 607482; CSRP3 Cardiomyopathy, dilated, 1N; 607487; TCAP Cardiomyopathy, dilated, 1O; 608569; ABCC9 Cardiomyopathy, dilated, 1P; 609909; PLN Cardiomyopathy, dilated, 1R; 613424; ACTC1 Cardiomyopathy, dilated, 1S; 613426; MYH7 Cardiomyopathy, dilated, 1W; 611407; VCL Cardiomyopathy, dilated, 1X; 611615; FKTN Cardiomyopathy, dilated, 1Y; 611878; TPM1 Cardiomyopathy, dilated, 1Z; 611879; TNNC1 Cardiomyopathy, dilated, 2A; 611880; TNNI3 Cardiomyopathy, dilated, 3A; 300069; TAZ Cardiomyopathy, dilated, 3B; 302045; DMD Cardiomyopathy, familial hypertrophic, 1; 192600; MYH7 Cardiomyopathy, familial hypertrophic, 10; 608758; MYL2 Cardiomyopathy, familial hypertrophic, 11; 612098; ACTC1 Cardiomyopathy, familial hypertrophic, 12; 612124; CSRP3 Cardiomyopathy, familial hypertrophic, 13; 613243; TNNC1 Cardiomyopathy, familial hypertrophic, 14; 613251; MYH6 Cardiomyopathy, familial hypertrophic, 15; 613255; VCL Cardiomyopathy, familial hypertrophic; 192600; CAV3 Cardiomyopathy, familial hypertrophic; 192600; SLC25A4 Cardiomyopathy, familial hypertrophic, 2; 115195; TNNT2 Cardiomyopathy, familial hypertrophic, 3; 115196; TPM1 Cardiomyopathy, familial hypertrophic, 4; 115197; MYBPC3 Cardiomyopathy, familial hypertrophic, 8; 608751; MYL3 Cardiomyopathy, familial restrictive; 115210; TNNI3 Cardiomyopathy, familial restrictive, 3; 612422; TNNT2 Cardiomyopathy, hypertrophic 6, with WPW; 600858; PRKAG2 Cardiomyopathy, hypertrophic, midventricular, digenic; 192600; MYLK2 Carney complex variant; 608837; MYH8 Carney complex, type 1; 160980; PRKAR1A Carnitine deficiency, systemic primary; 212140; SLC22A5 Carotid intimal medial thickness 1; 609338; PPARG Carpal tunnel syndrome, familial; 115430; TTR Carpenter syndrome; 201000; RAB23 Cartilage-hair hypoplasia; 250250; RMRP Cataract with late-onset corneal dystrophy; 604219; PAX6 Cataract, autosomal dominant, multiple types 1; 611597; BFSP2 Cataract, cerulean, type 2; 601547; CRYBB2 Cataract, congenital nuclear, 2; 609741; CRYBB3 Cataract, congenital nuclear, autosomal recessive 3; 611544; CRYBB1 Cataract, congenital zonular, with sutural opacities; 600881; CRYBA1 Cataract, congenital; 604219; BFSP2 Cataract, congenital, cerulean type, 3; 608983; CRYGD Cataract, congenital, X-linked; 302200; NHS Cataract, Coppock-like; 604307; CRYBB2 Cataract, Coppock-like; 604307; CRYGC Cataract, cortical, juvenile-onset; 611391; BFSP1 Cataract, crystalline aculeiform; 115700; CRYGD Cataract, juvenile, with microcornea and glucosuria; 612018; SLC16A12 Cataract, juvenile-onset; 604219; BFSP2 Cataract, lamellar 2; 610425; CRYBA4 Cataract, lamellar; 116800; HSF4 Cataract, Marner type; 116800; HSF4 Cataract, nonnuclear polymorphic congenital; 601286; CRYGD Cataract, polymorphic and lamellar; 604219; MIP Cataract, posterior polar, 1; 613020; EPHA2 Cataract, posterior polar, 3; 605387; CHMP4B Cataract, posterior polar, 4; 610623; PITX3 Cataract, posterior polar, 4, syndromic; 610623; PITX3 Cataract, sutural, with punctate and cerulean opacities; 607133; CRYBB2 Cataract, zonular pulverulent-1; 116200; GJA8 Cataract, zonular pulverulent-3; 601885; GJA3 Cataract-microcornea syndrome; 116150; GJA8 CATSHL syndrome; 610474; FGFR3 Caudal duplication anomaly; 607864; AXIN1 Caudal regression syndrome; 600145; VANGL1 Cavernous malformations of CNS and retina; 116860; CCM1 CD59 deficiency; 612300; CD59 CD8 deficiency, familial; 608957; CD8A Cenani-Lenz syndactyly syndrome; 212780; LRP4 Central core disease; 117000; RYR1 Central hypoventilation syndrome; 209880; GDNF Central hypoventilation syndrome, congenital; 209880; ASCL1 Central hypoventilation syndrome, congenital; 209880; BDNF Central hypoventilation syndrome, congenital; 209880; EDN3 Central hypoventilation syndrome, congenital; 209880; PMX2B Central hypoventilation syndrome, congenital; 209880; RET Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; 613227; CA8 Cerebellar ataxia; 604290; CP Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; 224050; VLDLR Cerebral amyloid angiopathy; 105150; CST3 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; 605714; APP Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; 125310; NOTCH3 Cerebral cavernous malformations 3; 603285; PDCD10 Cerebral cavernous malformations-1; 116860; CCM1 Cerebral cavernous malformations-2; 603284; C7orf22 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; 609528; SNAP29 Cerebral palsy, spastic quadriplegic, 3; 612936; AP4M1 Cerebral palsy, spastic quadriplegic; 612900; KANK1 Cerebral palsy, spastic, symmetric, autosomal recessive; 603513; GAD1 Cerebrocostomandibular-like syndrome; 611209; COG1 Cerebrooculofacioskeletal syndrome 1; 214150; ERCC6 Cerebrooculofacioskeletal syndrome 2; 610756; ERCC2 Cerebrooculofacioskeletal syndrome 4; 610758; ERCC1 Cerebrotendinous xanthomatosis; 213700; CYP27A1 Ceroid lipofuscinosis, neuronal 8; 600143; CLN8 Ceroid lipofuscinosis, neuronal, 10; 610127; CTSD Ceroid lipofuscinosis, neuronal, 7; 610951; MFSD8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; 610003; CLN8 Ceroid lipofuscinosis, neuronal 1, infantile; 256730; PPT1 Ceroid-lipofuscinosis, neuronal 2, classic late infantile; 204500; TPP1 Ceroid lipofuscinosis, neuronal 3, juvenile; 204200; CLN3 Ceroid-lipofuscinosis, neuronal-5, variant late infantile; 256731; CLN5 Ceroid-lipofuscinosis, neuronal-6, variant late infantile; 601780; CLN6 Cervical cancer, somatic; 603956; FGFR3 Chanarin-Dorfman syndrome; 275630; ABHD5 Char syndrome; 169100; TFAP2B Charcot-Marie-Tooth disease, axonal, type 2F; 606595; HSPB1 Charcot-Marie-Tooth disease, axonal, type 2K; 607831; GDAP1 Charcot-Marie-Tooth disease, axonal, type 2L; 608673; HSPB8 Charcot-Marie-Tooth disease, axonal, type 2M; 606482; DNM2 Charcot-Marie-Tooth disease, axonal, type 2N; 613287; AARS Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; 607706; GDAP1 Charcot-Marie-Tooth disease, dominant intermediate 3; 607791; MPZ Charcot-Marie-Tooth disease, dominant intermediate B; 606482; DNM2 Charcot-Marie-Tooth disease, dominant intermediate C; 608323; YARS Charcot-Marie-Tooth disease, recessive intermediate, A; 608340; GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, B; 613641; KARS Charcot-Marie-Tooth disease type 1A; 118220; PMP22 Charcot-Marie-Tooth disease type 1B; 118200; MPZ Charcot-Marie-Tooth disease type 1C; 601098; LITAF Charcot-Marie-Tooth disease type 1D; 607678; EGR2 Charcot-Marie-Tooth disease type 1E; 118300; PMP22 Charcot-Marie-Tooth disease type 1F; 607734; NEFL Charcot-Marie-Tooth disease type 2A1; 118210; KIF1B Charcot-Marie-Tooth disease type 2A2; 609260; MFN2 Charcot-Marie-Tooth disease type 2B; 600882; RAB7 Charcot-Marie-Tooth disease type 2B1; 605588; LMNA Charcot-Marie-Tooth disease type 2B2; 605589; MED25 Charcot-Marie-Tooth disease type 2D; 601472; GARS Charcot-Marie-Tooth disease type 2E; 607684; NEFL Charcot-Marie-Tooth disease type 2I; 607677; MPZ Charcot-Marie-Tooth disease type 2J; 607736; MPZ Charcot-Marie-Tooth disease type 4A; 214400; GDAP1 Charcot-Marie-Tooth disease type 4B1; 601382; MTMR2 Charcot-Marie-Tooth disease type 4B2; 604563; SBF2 Charcot-Marie-Tooth disease type 4C; 601596; SH3TC2 Charcot-Marie-Tooth disease type 4D; 601455; NDRG1 Charcot-Marie-Tooth disease type 4F; 145900; PRX Charcot-Marie-Tooth disease type 4H; 609311; FGD4 Charcot-Marie-Tooth disease type 4J; 611228; FIG4 Charcot-Marie-Tooth disease, X-linked recessive, 5; 311070; PRPS1 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1; 302800; GJB1 CHARGE syndrome; 214800; CHD7 CHARGE syndrome; 214800; SEMA3E Chediak-Higashi syndrome; 214500; CHS1 Cherubism; 118400; SH3BP2 Chilblain lupus; 610448; TREX1 CHILD syndrome; 308050; NSDHL Chloride diarrhea, congenital, Finnish type; 214700; SLC26A3 Cholestasis, benign recurrent intrahepatic, 2; 605479; ABCB11 Cholestasis, benign recurrent intrahepatic; 243300; ATP8B1 Cholestasis, familial intrahepatic, of pregnancy; 147480; ABCB4 Cholestasis, progressive familial intrahepatic 1; 211600; ATP8B1 Cholestasis, progressive familial intrahepatic 2; 601847; ABCB11 Cholestasis, progressive familial intrahepatic 3; 602347; ABCB4 Cholestasis, progressive familial intrahepatic 4; 607765; HSD3B7 Cholesteryl ester storage disease; 278000; LIPA Chondrocalcinosis 2; 118600; ANKH Chondrodysplasia punctata, rhizomelic, type 2; 222765; GNPAT Chondrodysplasia punctata, X-linked dominant; 302960; EBP Chondrodysplasia punctata, X-linked recessive; 302950; ARSE Chondrodysplasia, Blomstrand type; 215045; PTHR1 Chondrodysplasia, Grebe type; 200700; GDF5 Chondrosarcoma; 215300; EXT1 Chondrosarcoma, extraskeletal myxoid; 612237; TAF15 Chondrosarcoma, extraskeletal myxoid; 612237; TFG Chondrosarcoma, extraskeletal myxoid; 612237; CSMF Chorea, hereditary benign; 118700; NKX2-1 Choreoacanthocytosis; 200150; VPS13A Choreoathetosis, hypothyroidism, and neonatal respiratory distress; 610978; NKX2-1 Choriodal dystrophy, central areolar 2,; 613105; PRPH2 Choroid plexus papilloma; 260500; TP53 Choroideremia; 303100; CHM Chromosome 22q13.3 deletion syndrome; 606232; SHANK3 Chromosome 5q14.3 deletion syndrome; 613443; MEF2C Chrondrodysplasia, acromesomelic, with genital anomalies; 609441; BMPR1B Chronic granulomatous disease due to deficiency of NCF-1; 233700; NCF1 Chronic granulomatous disease due to deficiency of NCF-2; 233710; NCF2 Chronic granulomatous disease, autosomal, due to deficiency of CYBA; 233690; CYBA Chronic granulomatous disease, X-linked; 306400; CYBB Chylomicron retention disease; 246700; SAR1B Ciliary dyskinesia, primary, 1, with or without situs inversus; 244400; DNAI1 Ciliary dyskinesia, primary, 10; 612518; KTU Ciliary dyskinesia, primary, 11; 612649; RSPH4A Ciliary dyskinesia, primary, 12; 612650; RSPH9 Ciliary dyskinesia, primary, 13; 613193; LRRC50 Ciliary dyskinesia, primary, 3, with or without situs inversus; 608644; DNAH5 Ciliary dyskinesia, primary, 6; 610852; TXNDC3 Ciliary dyskinesia, primary, 7, with or without situs inversus; 611884; DNAH11 Ciliary dyskinesia, primary, 9, with or without situs inversus; 612444; DNAI2 CINCA syndrome; 607115; NLRP3 Cirrhosis, North American Indian childhood type; 604901; CIRH1A Citrullinemia; 215700; ASS1 Citrullinemia, adult-onset type II; 603471; SLC25A13 Citrullinemia, type II, neonatal-onset; 605814; SLC25A13 Cleft lip/palate-ectodermal dysplasia syndrome; 225060; HVEC Cleft palate and mental retardation; 119540; SATB2 Cleft palate with ankyloglossia; 303400; TBX22 Cleft palate, isolated; 119540; UBB Cleidocranial dysplasia; 119600; RUNX2 C-like syndrome; 605039; CD96 Clopidogrel, impaired responsiveness to; 609535; CYP2C Clubfoot, congenital; 119800; PITX1 COACH syndrome; 216360; CC2D2A COACH syndrome; 216360; RPGRIP1L COACH syndrome; 216360; TMEM67 Cockayne syndrome type A; 216400; ERCC8 Cockayne syndrome type B; 133540; ERCC6 Cocoon syndrome; 613630; CHUK Coenzyme Q10 deficiency; 607426; APTX Coenzyme Q10 deficiency; 607426; CABC1 Coenzyme Q10 deficiency; 607426; COQ2 Coenzyme Q10 deficiency; 607426; COQ9 Coenzyme Q10 deficiency; 607426; PDSS1 Coenzyme Q10 deficiency; 607426; PDSS2 Coffin-Lowry syndrome; 303600; RPS6KA3 Cohen syndrome; 216550; COH1 Cold-induced autoinflammatory syndrome, familial; 120100; NLRP3 Cold-induced sweating syndrome 1; 610313; CLCF1 Cold-induced sweating syndrome; 272430; CRLF1 Coloboma of optic nerve; 120430; PAX6 Coloboma, ocular; 120200; PAX6 Coloboma, ocular; 120200; SHH Colon cancer, somatic; 114500; PTPRJ Colorblindness, deutan; 303800; OPN1MW Colorblindness, tritan; 190900; OPN1SW Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; 132600; MUTYH Colorectal cancer; 114500; AXIN2 Colorectal cancer; 114500; BUB1B Colorectal cancer; 114500; EP300 Colorectal cancer; 114500; NRAS Colorectal cancer; 114500; PDGFRL Colorectal cancer; 114500; TP53 Colorectal cancer, hereditary nonpolyposis, type 1; 120435; MSH2 Colorectal cancer, hereditary nonpolyposis, type 2; 609310; MLH1 Colorectal cancer, hereditary nonpolyposis, type I; 613244; EPCAM Colorectal cancer, somatic; 109800; FGFR3 Colorectal cancer, somatic; 114500; AKT1 Colorectal cancer, somatic; 114500; APC Colorectal cancer, somatic; 114500; FLCN Colorectal cancer, somatic; 114500; MLH3 Colorectal cancer, somatic; 114500; PIK3CA Combined cellular and humoral immune defects with granulomas; 233650; RAG1 Combined cellular and humoral immune defects with granulomas; 233650; RAG2 Combined factor V and VIII deficiency; 227300; LMAN1 Combined hyperlipidemia, familial; 144250; LPL Combined immunodeficiency, X-linked, moderate; 312863; IL2RG Combined oxidative phosphorylation deficiency 1; 609060; GFM1 Combined oxidative phosphorylation deficiency 2; 610498; MRPS16 Combined oxidative phosphorylation deficiency 3; 610505; TSFM Combined oxidative phosphorylation deficiency 4; 610678; TUFM Combined oxidative phosphorylation deficiency 5; 611719; MRPS22 Combined oxidative phosphorylation deficiency 6; 300816; AIFM1 Combined SAP deficiency; 611721; PSAP Complement component 4, partial deficiency of; 120790; C1NH Complement factor H deficiency; 609814; HF1 Complement factor I deficiency; 610984; CFI Complex I, mitochondrial respiratory chain, deficiency of; 252010; NDUFS6 Cone dystrophy 4; 613093; PDE6C Cone dystrophy-3; 602093; GUCA1A Cone-rod dystrophy 10; 610283; SEMA4A Cone-rod dystrophy 11; 610381; RAXL1 Cone-rod dystrophy 12; 612657; PROM1 Cone-rod dystrophy 13; 608194; RPGRIP1 Cone-rod dystrophy 14; 602093; GUCA1A Cone-rod dystrophy 15; 613660; CDHR1 Cone-rod dystrophy 3; 604116; ABCA4 Cone-rod dystrophy 5; 600977; PITPNM3 Cone-rod dystrophy; 601777; GUCY2D Cone-rod dystrophy 7; 603649; RIMS1 Cone-rod dystrophy 9; 612775; ADAM9 Cone-rod dystrophy, X-linked, 3; 300476; CACNA1F Cone-rod dystrophy-1; 304020; RPGR Cone-rod retinal dystrophy-2; 120970; CRX Congenital bilateral absence of vas deferens; 277180; CFTR Congenital cataracts, facial dysmorphism, and neuropathy; 604168; CTDP1 Congenital disorder of glycosylation, type Ia; 212065; PMM2 Congenital disorder of glycosylation, type Ic; 603147; ALG6 Congenital disorder of glycosylation, type Id; 601110; ALG3 Congenital disorder of glycosylation, type Ie; 608799; DPM1 Congenital disorder of glycosylation, type If; 609180; MPDU1 Congenital disorder of glycosylation, type Ig; 607143; ALG12 Congenital disorder of glycosylation, type Ih; 608104; ALG8 Congenital disorder of glycosylation, type Ii; 607906; ALG2 Congenital disorder of glycosylation, type IIA; 212066; MGAT2 Congenital disorder of glycosylation, type IIb; 606056; GCS1 Congenital disorder of glycosylation type IIc; 266265; SLC35C1 Congenital disorder of glycosylation, type IId; 607091; B4GALT1 Congenital disorder of glycosylation, type IIe; 608779; COG7 Congenital disorder of glycosylation, type IIf; 603585; SLC35A1 Congenital disorder of glycosylation, type IIg; 611209; COG1 Congenital disorder of glycosylation, type IIh; 611182; COG8 Congenital disorder of glycosylation, type IIj; 613489; COG4 Congenital disorder of glycosylation, type Ij; 608093; DPAGT2 Congenital disorder of glycosylation, type Ik; 608540; ALG1 Congenital disorder of glycosylation, type Il; 608776; ALG9 Congenital disorder of glycosylation, type Im; 610768; TMEM15 Congenital disorder of glycosylation, type In; 612015; RFT1 Congenital disorder of glycosylation, type Io; 612937; DPM3 Congenital disorder of glycosylation, type Ip; 612379; SRD5A3 Congenital heart defects, nonsyndromic, 1, X-linked; 306955; ZIC3 Congenital heart disease, nonsyndromic, 2; 612863; TAB2 Conjunctivitis, ligneous; 217090; PLG Conotruncal anomaly face syndrome; 217095; TBX1 Contractural arachnodactyly, congenital; 121050; FBN2 Convulsions, benign familial infantile, 3; 607745; SCN2A1 Convulsions, familial febrile, 4; 604352; GPR98 COPD, rate of decline of lung function in; 606963; MMP1 Coproporphyria; 121300; CPOX Cornea plana congenita, recessive; 217300; KERA Corneal dystrophy polymorphous posterior, 2; 609140; COL8A2 Corneal dystrophy, Avellino type; 607541; TGFBI Corneal dystrophy, congenital stromal; 610048; DCN Corneal dystrophy, crystalline, of Schnyder; 121800; UBIAD1 Corneal dystrophy, epithelial basement membrane; 121820; TGFBI Corneal dystrophy, Fuchs endothelial, 1; 136800; COL8A2 Corneal dystrophy, Fuchs endothelial, 4; 613268; SLC4A11 Corneal dystrophy, Fuchs endothelial, 6; 613270; ZEB1 Corneal dystrophy, gelatinous drop-like; 204870; TACSTD2 Corneal dystrophy, Groenouw type I; 121900; TGFBI Corneal dystrophy, hereditary polymorphous posterior; 122000; VSX1 Corneal dystrophy, lattice type I; 122200; TGFBI Corneal dystrophy, lattice type IIIA; 608471; TGFBI Corneal dystrophy, posterior polymorphous, 3; 609141; ZEB1 Corneal dystrophy, Reis-Bucklers type; 608470; TGFBI Corneal dystrophy, Thiel-Behnke type; 602082; TGFBI Corneal endothelial dystrophy 2; 217700; SLC4A11 Corneal endothelial dystrophy and perceptive deafness; 217400; SLC4A11 Corneal fleck dystrophy; 121850; PIKFYVE Cornelia de Lange syndrome 1; 122470; NIPBL Cornelia de Lange syndrome 2; 300590; DXS423E Cornelia de Lange syndrome 3; 610759; CSPG6 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; 300472; IGBP1 Corpus callosum, partial agenesis of; 304100; L1CAM Cortical dysplasia-focal epilepsy syndrome; 610042; CNTNAP2 Corticosteroid-binding globulin deficiency; 611489; CBG Cortisone reductase deficiency; 604931; H6PD Cortisone reductase deficiency; 604931; HSD11B1 Costello syndrome; 218040; HRAS Coumarin resistance; 122700; CYP2A6 Cousin syndrome; 260660; TBX15 Cowden disease; 158350; PTEN Cowden-like syndrome; 612359; SDHB Cowden-like syndrome; 612359; SDHD CPT deficiency, hepatic, type IA; 255120; CPT1A CPT deficiency, hepatic, type II; 600649; CPT2 CPT II deficiency, lethal neonatal; 608836; CPT2 Cranioectodermal dysplasia; 218330; IFT122 Craniofacial-deafness-hand syndrome; 122880; PAX3 Craniofrontonasal dysplasia; 304110; EFNB1 Cranio-lenticulo-sutural dysplasia; 607812; SEC23A Craniometaphyseal dysplasia; 123000; ANKH Cranioosteoarthropathy; 259100; HPGD Craniosynostosis, type 1; 123100; TWIST1 Craniosynostosis, type 2; 604757; MSX2 CRASH syndrome; 303350; L1CAM Creatine deficiency syndrome, X-linked; 300352; SLC6A8 Creatine phosphokinase, elevated serum; 123320; CAV3 Creutzfeldt-Jakob disease; 123400; PRNP Crigler Najjar syndrome type I; 218800; UGT1A1 Crigler Najjar syndrome type II; 606785; UGT1A1 Crisponi syndrome; 601378; CRLF1 Crouzon syndrome with acanthosis nigricans; 612247; FGFR3 Crouzon syndrome; 123500; FGFR2 Cryptorchidism, bilateral; 219050; LGR8 Cryptorchidism, idiopathic; 219050; INSL3 Currarino syndrome; 176450; MNX1 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; 613177; LTBP4 Cutis laxa, AD; 123700; ELN Cutis laxa, autosomal dominant; 123700; FBLN5 Cutis laxa, autosomal recessive; 219100; FBLN5 Cutis laxa, autosomal recessive, type I; 219100; EFEMP2 Cutis laxa, autosomal recessive, type II; 219200; ATP6V0A2 Cutis laxa, autosomal recessive, type IIB; 612940; PYCR1 Cutis laxa, recessive, type I; 219100; LOX Cylindromatosis, familial; 132700; CYLD1 Cystathioninuria; 219500; CTH Cystic fibrosis; 219700; CFTR Cystinosis, late-onset juvenile or adolescent nephropathic; 219900; CTNS Cystinosis, nephropathic; 219800; CTNS Cystinosis, ocular nonnephropathic; 219750; CTNS Cystinuria; 220100; SLC3A1 Cystinuria; 220100; SLC7A9 Cytochrome C oxidase deficiency; 220110; COX6B1 D-2-hydroxyglutaric aciduria; 600721; D2HGDH Dandy-Walker malformation; 220200; ZIC1 Dandy-Walker malformation; 220200; ZIC4 Darier disease; 124200; ATP2A2 Darsun syndrome; 612541; G6PC3 D-bifunctional protein deficiency; 261515; HSD17B4 De la Chapelle dysplasia; 256050; SLC26A2 De Sanctis-Cacchione syndrome; 278800; ERCC6 Deafness, autosomal dominant 1; 124900; DIAPH1 Deafness, autosomal dominant 10; 601316; EYA4 Deafness, autosomal dominant 11, neurosensory; 601317; MYO7A Deafness, autosomal dominant 13; 601868; COL11A2 Deafness, autosomal dominant 15; 602459; POU4F3 Deafness, autosomal dominant 17; 603622; MYH9 Deafness, autosomal dominant 20/26; 604717; ACTG1 Deafness, autosomal dominant 22; 606346; MYO6 Deafness, autosomal dominant 23; 605192; SIX1 Deafness, autosomal dominant 25; 605583; SLC17A8 Deafness, autosomal dominant 28; 608641; GRHL2 Deafness, autosomal dominant 2A; 600101; KCNQ4 Deafness, autosomal dominant 2B; 612644; GJB3 Deafness, autosomal dominant 36; 606705; TMC1 Deafness, autosomal dominant 36, with dentinogenesis; 605594; DSPP Deafness, autosomal dominant 3A; 601544; GJB2 Deafness, autosomal dominant 3B; 612643; GJB6 Deafness, autosomal dominant 4; 600652; MYH14 Deafness, autosomal dominant 44; 607453; CCDC50 Deafness, autosomal dominant 48; 607841; MYO1A Deafness, autosomal dominant 5; 600994; DFNA5 Deafness, autosomal dominant 50; 613074; MIR96 Deafness, autosomal dominant 8/12; 601543; TECTA Deafness, autosomal dominant 9; 601369; COCH Deafness, autosomal recessive 10, congenital; 605316; TMPRSS3 Deafness, autosomal recessive 12; 601386; CDH23 Deafness, autosomal recessive 16; 603720; STRC Deafness, autosomal recessive 18; 602092; USH1C Deafness, autosomal recessive 1A; 220290; GJB2 Deafness, autosomal recessive 1B; 612645; GJB6 Deafness, autosomal recessive 2, neurosensory; 600060; MYO7A Deafness, autosomal recessive 21; 603629; TECTA Deafness, autosomal recessive 22; 607039; OTOA Deafness, autosomal recessive 23; 609533; PCDH15 Deafness, autosomal recessive 25; 613285; GRXCR1 Deafness, autosomal recessive 28; 609823; TRIOBP Deafness, autosomal recessive 3; 600316; MYO15A Deafness, autosomal recessive 30; 607101; MYO3A Deafness, autosomal recessive 31; 607084; WHRN Deafness, autosomal recessive 35; 608565; ESRRB Deafness, autosomal recessive 36; 609006; ESPN Deafness, autosomal recessive 37; 607821; MYO6 Deafness, autosomal recessive 39; 608265; HGF Deafness, autosomal recessive 49; 610153; MARVELD2 Deafness, autosomal recessive 53; 609706; COL11A2 Deafness, autosomal recessive 59; 610220; PJVK Deafness, autosomal recessive 6; 600971; TMIE Deafness, autosomal recessive 63; 611451; LRTOMT Deafness, autosomal recessive 67; 610265; LHFPL5 Deafness, autosomal recessive 7; 600974; TMC1 Deafness, autosomal recessive 77; 613079; LOXHD1 Deafness, autosomal recessive 79; 613307; TPRN Deafness, autosomal recessive 8, childhood onset; 601072; TMPRSS3 Deafness, autosomal recessive 84; 613391; PTPRQ Deafness, autosomal recessive 9; 601071; OTOF Deafness, autosomal recessive 91; 613453; SERPINB6 Deafness, autosomal recessive, 24; 611022; RDX Deafness, congenital with inner ear agenesis, microtia, and microdontia; 610706; FGF3 Deafness, digenic GJB2/GJB6; 220290; GJB6 Deafness, digenic, GJB2/GJB3; 220290; GJB3 Deafness, sensorineural, with hypertrophic cardiomyopathy; 606346; MYO6 Deafness, X-linked 1; 304500; PRPS1 Deafness, X-linked 2; 304400; POU3F4 Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema; 603528; PIEZO1 Dejerine-Sottas disease; 145900; PMP22 Dejerine-Sottas neuropathy; 145900; EGR2 Dejerine-Sottas neuropathy, autosomal recessive; 145900; PRX Dejerine-Sottas syndrome; 145900; MPZ Dementia, familial British; 176500; ITM2B Dementia, familial Danish; 117300; ITM2B Dementia, familial, nonspecific; 600795; CHMP2B Dementia, frontotemporal; 600274; PSEN1 Dementia, frontotemporal, with or without parkinsonism; 600274; MAPT Dementia, Lewy body; 127750; SNCA Dementia, Lewy body; 127750; SNCB Dent disease 2; 300555; OCRL Dent disease; 300009; CLCN5 Dentatorubropallidoluysian atrophy; 125370; ATN1 Dentin dysplasia, type II; 125420; DSPP Dentinogenesis imperfecta, Shields type II; 125490; DSPP Dentinogenesis imperfecta, Shields type III; 125500; DSPP Denys-Drash syndrome; 194080; WT1 Dermatopathia pigmentosa reticularis; 125595; KRT14 Desbuquois dysplasia; 251450; CANT1 Desmoid disease, hereditary; 135290; APC Desmosterolosis; 602398; DHCR24 Diabetes insipidus, nephrogenic; 125800; AQP2 Diabetes insipidus, nephrogenic; 304800; AVPR2 Diabetes insipidus, neurohypophyseal; 125700; AVP Diabetes mellitus, gestational; 125851; GCK Diabetes mellitus, insulin-dependent, 2; 125852; INS Diabetes mellitus, insulin-dependent, 20; 612520; HNF1A Diabetes mellitus, insulin-resistant, with acanthosis nigricans; 610549; INSR Diabetes mellitus, ketosis-prone; 612227; PAX4 Diabetes mellitus, neonatal, with congenital hypothyroidism; 610199; GLIS3 Diabetes mellitus, noninsulin-dependent; 125853; ABCC8 Diabetes mellitus, noninsulin-dependent; 125853; HNF1B Diabetes mellitus, noninsulin-dependent, late onset; 125853; GCK Diabetes mellitus, permanent neonatal; 606176; ABCC8 Diabetes mellitus, permanent neonatal; 606176; GCK Diabetes mellitus, permanent neonatal; 606176; INS Diabetes mellitus, permanent neonatal, with cerebellar agenesis; 609069; PTF1A Diabetes mellitus, permanent neonatal, with neurologic features; 606176; KCNJ11 Diabetes mellitus, transient neonatal 2; 610374; ABCC8 Diabetes mellitus, transient neonatal, 1; 601410; ZFP57 Diabetes mellitus, transient neonatal, 3; 610582; KCNJ11 Diabetes mellitus, type 1; 125852; INS Diabetes mellitus, type 2; 125853; PAX4 Diabetes mellitus type II; 125853; AKT2 Diabetes, permanent neonatal; 606176; KCNJ11 Diamond-Blackfan anemia 1; 105650; RPS19 Diamond-Blackfan anemia 10; 613309; RPS26 Diamond-Blackfan anemia 4; 612527; RPS17 Diamond-Blackfan anemia 5; 612528; RPL35A Diamond-Blackfan anemia 6; 612561; RPL5 Diamond-Blackfan anemia 7; 612562; RPL11 Diamond-Blackfan anemia 8; 612563; RPS7 Diamond-Blackfan anemia 9; 613308; RPS10 Diamond-blackfan anemia; 610629; RPS24 Diaphragmatic hernia 3; 610187; ZFPM2 Diarrhea 3, secretory sodium, congenital, syndromic; 270420; SPINT2 Diarrhea 4, malabsorptive, congenital; 610370; NEUROG3 Diarrhea 5, with tufting enteropathy, congenital; 613217; EPCAM Diastrophic dysplasia; 222600; SLC26A2 Diastrophic dysplasia, broad bone-platyspondylic variant; 222600; SLC26A2 Dicarboxylic aminoaciduria; 222730; SLC1A1 DiGeorge syndrome; 188400; TBX1 Digital clubbing, isolated congenital; 119900; HPGD Dihydropyrimidine dehydrogenase deficiency; 274270; DPYD Dihydropyrimidinuria; 222748; DPYS Dilated cardiomyopathy with woolly hair and keratoderma; 605676; DSP Dimethylglycine dehydrogenase deficiency; 605850; DMGDH Disordered steroidogenesis, isolated; 201750; POR Donnai-Barrow syndrome; 222448; LRP2 Dopamine beta-hydroxylase deficiency; 223360; DBH Dosage-sensitive sex reversal; 300018; DAX1 Double outlet right ventricle; 217095; CFC1 Double outlet right ventricle; 217095; GDF1 Dowling-Degos disease; 179850; KRT5 Doyne honeycomb degeneration of retina; 126600; EFEMP1 Dravet syndrome; 607208; SCN1A Duane retraction syndrome 2; 604356; CHN1 Duane-radial ray syndrome; 607323; SALL4 Dubin-Johnson syndrome; 237500; ABCC2 Duchenne muscular dystrophy; 310200; DMD Dyggve-Melchior-Clausen disease; 223800; DYM Dysautonomia, familial; 223900; IKBKAP Dyschromatosis symmetrica hereditaria; 127400; ADAR Dyserythropoietic anemia with thrombocytopenia; 300367; GATA1 Dyskeratosis congenita; 127550; TERT Dyskeratosis congenita; 224230; NOLA2 Dyskeratosis congenita, autosomal dominant; 127550; TERC Dyskeratosis congenita, autosomal dominant; 127550; TINF2 Dyskeratosis congenita, autosomal recessive; 224230; NOLA3 Dyskeratosis congenita-1; 305000; DKC1 Dyssegmental dysplasia, Silverman-Handmaker type; 224410; HSPG2 Dystonia 16; 612067; PRKRA Dystonia 6, torsion; 602629; THAP1 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; 612716; SPR Dystonia, DOPA-responsive, with or without hyperphenylalainemia; 233910; GCH1 Dystonia, juvenile-onset; 607371; ACTB Dystonia, myoclonic; 159900; DRD2 Dystonia-1, torsion; 128100; DYT1 Dystonia-11, myoclonic; 159900; SGCE Dystonia-12; 128235; ATP1A3 Dystonia-parkinsonism, adult-onset; 612953; PLA2G6 Dystonia-Parkinsonism, X-linked; 314250; TAF1 EBD inversa; 226600; COL7A1 EBD, Bart type; 132000; COL7A1 Ectodermal dysplasia, anhidrotic, autosomal dominant; 129490; EDARADD Ectodermal dysplasia, anhidrotic, autosomal recessive; 224900; EDARADD Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency; 612132; NFKBIA Ectodermal dysplasia, anhidrotic, X-linked; 305100; ED1 Ectodermal dysplasia, ectrodactyly, and macular dystrophy; 225280; CDH3 Ectodermal dysplasia, hidrotic; 129500; GJB6 Ectodermal dysplasia, hypohidrotic, autosomal dominant; 129490; EDAR Ectodermal dysplasia, hypohidrotic, autosomal recessive; 224900; EDAR Ectodermal dysplasia, hypohidrotic, with immune deficiency; 300291; IKBKG Ectodermal dysplasia, 'pure' hair-nail type; 602032; KRT85 Ectodermal dysplasia/skin fragility syndrome; 604536; PKP1 Ectodermal dysplasia-syndactyly syndrome 1; 613573; PVRL4 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency; 300301; IKBKG Ectopia lentis, familial; 129600; FBN1 Ectopia lentis, isolated, autosomal recessive; 225100; ADAMTSL4 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; 604292; TP63 Ehlers-Danlos due to tenascin X deficiency; 606408; TNXB Ehlers-Danlos syndrome, cardiac valvular form; 225320; COL1A2 Ehlers-Danlos syndrome, hypermobility type; 130020; TNXB Ehlers-Danlos syndrome, musculocontractural type; 601776; CHST14 Ehlers-Danlos syndrome, progeroid form; 130070; B4GALT7 Ehlers-Danlos syndrome, type I; 130000; COL1A1 Ehlers-Danlos syndrome, type I; 130000; COL5A1 Ehlers-Danlos syndrome, type I; 130000; COL5A2 Ehlers-Danlos syndrome, type II; 130010; COL5A1 Ehlers-Danlos syndrome, type III; 130020; COL3A1 Ehlers-Danlos syndrome, type IV; 130050; COL3A1 Ehlers-Danlos syndrome, type VI; 225400; PLOD Ehlers-Danlos syndrome, type VIIA; 130060; COL1A1 Ehlers-Danlos syndrome, type VIIB; 130060; COL1A2 Ehlers-Danlos syndrome, type VIIC; 225410; ADAMTS2 Eiken syndrome; 600002; PTHR1 Elliptocytosis-1; 611804; EPB41 Elliptocytosis-2; 130600; SPTA1 Ellis-van Creveld syndrome; 225500; EVC Ellis-van Creveld syndrome; 225500; LBN Emery-Dreifuss muscular dystrophy 4; 612998; SYNE1 Emery-Dreifuss muscular dystrophy 5; 612999; SYNE2 Emery-Dreifuss muscular dystrophy 6; 300696; FHL1 Emery-Dreifuss muscular dystrophy; 310300; EMD Emery-Dreifuss muscular dystrophy, AD; 181350; LMNA Emery-Dreifuss muscular dystrophy, AR; 181350; LMNA Emphysema due to AAT deficiency; 613490; SERPINA1 Emphysema-cirrhosis, due to AAT deficiency; 613490; SERPINA1 Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency; 604273; TMEM70 Encephalopathy, familial, with neuroserpin inclusion bodies; 604218; SERPINI1 Encephalopathy, neonatal severe; 300673; MECP2 Endocrine-cerebroosteodysplasia; 612651; ICK Endometrial cancer; 608089; MLH3 Endometrial cancer, familial; 608089; MSH6 Endplate acetylcholinesterase deficiency; 603034; COLQ Enhanced S-cone syndrome; 268100; NR2E3 Enlarged vestibular aqueduct; 600791; FOXI1 Enlarged vestibular aqueduct; 600791; SLC26A4 Enterokinase deficiency; 226200; PRSS7 Eosinophil peroxidase deficiency; 261500; EPX Epidermodysplasia verruciformis; 226400; TMC6 Epidermodysplasia verruciformis; 226400; TMC8 Epidermolysis bullosa dystrophica, AD; 131750; COL7A1 Epidermolysis bullosa dystrophica, AR; 226600; COL7A1 Epidermolysis bullosa of hands and feet; 131800; ITGB4 Epidermolysis bullosa pruriginosa; 604129; COL7A1 Epidermolysis bullosa simplex with migratory circinate erythema; 609352; KRT5 Epidermolysis bullosa simplex with mottled pigmentation; 131960; KRT5 Epidermolysis bullosa simplex with pyloric atresia; 612138; PLEC1 Epidermolysis bullosa simplex, Dowling-Meara type; 131760; KRT14 Epidermolysis bullosa simplex, Dowling-Meara type; 131760; KRT5 Epidermolysis bullosa simplex, Koebner type; 131900; KRT14 Epidermolysis bullosa simplex, Koebner type; 131900; KRT5 Epidermolysis bullosa simplex, Ogna type; 131950; PLEC1 Epidermolysis bullosa simplex, recessive; 601001; KRT14 Epidermolysis bullosa simplex, Weber-Cockayne type; 131800; KRT14 Epidermolysis bullosa simplex, Weber-Cockayne type; 131800; KRT5 Epidermolysis bullosa, generalized atrophic benign; 226650; LAMA3 Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMA3 Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMB3 Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMC2 Epidermolysis bullosa, junctional, non-Herlitz type; 226650; COL17A1 Epidermolysis bullosa, junctional, non-Herlitz type; 226650; ITGB4 Epidermolysis bullosa, junctional, non-Herlitz type; 226650; LAMB3 Epidermolysis bullosa, junctional, non-Herlitz type; 226650; LAMC2 Epidermolysis bullosa, junctional, with pyloric atresia; 226730; ITGB4 Epidermolysis bullosa, junctional, with pyloric stenosis; 226730; ITGA6 Epidermolysis bullosa, lethal acantholytic; 609638; DSP Epidermolysis bullosa, pretibial; 131850; COL7A1 Epidermolytic hyperkeratosis; 113800; KRT1 Epidermolytic hyperkeratosis; 113800; KRT10 Epidermolytic palmoplantar keratoderma; 144200; KRT9 Epilepsy, benign neonatal, type 2; 121201; KCNQ3 Epilepsy, benign, neonatal, type 1; 121200; KCNQ2 Epilepsy, female-restricted, with mental retardation; 300088; PCDH19 Epilepsy, generalized, with febrile seizures plus, type 2; 604233; SCN1A Epilepsy, generalized, with febrile seizures plus, type 3; 604233; GABRG2 Epilepsy, juvenile myoclonic, susceptibility to; 613060; GABRD Epilepsy, myoclonic, Lafora type; 254780; EPM2A Epilepsy, myoclonic, Lafora type; 254780; NHLRC1 Epilepsy, myoclonic, with mental retardation and spasticity; 300432; ARX Epilepsy, neonatal myoclonic, with suppression-burst pattern; 609304; SLC25A22 Epilepsy, nocturnal frontal lobe, 1; 600513; CHRNA4 Epilepsy, nocturnal frontal lobe, 3; 605375; CHRNB2 Epilepsy, nocturnal frontal lobe, type 4; 610353; CHRNA2 Epilepsy, partial, with auditory features; 600512; LGI1 Epilepsy, progressive myoclonic 1; 254800; CSTB Epilepsy, progressive myoclonic 1B; 612437; PRICKLE1 Epilepsy, progressive myoclonic 2B; 254780; NHLRC1 Epilepsy, progressive myoclonic 3; 611726; KCTD7 Epilepsy, pyridoxine-dependent; 266100; ALDH7A1 Epilepsy, severe myoclonic, of infancy; 607208; SCN1A Epilepsy, X-linked, with variable learning disabilities and behavior disorders; 300491; SYN1 Epileptic encephalopathy, early infantile, 1; 308350; ARX Epileptic encephalopathy, early infantile, 2; 300672; CDKL5 Epileptic encephalopathy, early infantile, 4; 612164; STXBP1 Epileptic encephalopathy, early infantile, 5; 613477; SPTAN1 Epileptic encephalopathy, Lennox-Gastaut type; 606369; MAPK10 Epiphyseal dysplasia, multiple 1; 132400; COMP Epiphyseal dysplasia, multiple, 2; 600204; COL9A2 Epiphyseal dysplasia, multiple, 3; 600969; COL9A3 Epiphyseal dysplasia, multiple, 4; 226900; SLC26A2 Epiphyseal dysplasia, multiple, 5; 607078; MATN3 Epiphyseal dysplasia, multiple, with myopia and deafness; 132450; COL2A1 Episodic ataxia, type 2; 108500; CACNA1A Episodic ataxia, type 6; 612656; SLC1A3 Episodic ataxia/myokymia syndrome; 160120; KCNA1 Epstein syndrome; 153650; MYH9 Erythermalgia, primary; 133020; SCN9A Erythrocyte lactate transporter defect; 245340; SLC16A1 Erythrocytosis, familial, 3; 609820; EGLN1 Erythrocytosis, familial, 4; 611783; EPAS1 Erythrokeratodermia variabilis et progressiva; 133200; GJB3 Erythrokeratodermia variabilis with erythema gyratum repens; 133200; GJB4 Escobar syndrome; 265000; CHRNG Esophageal cancer; 133239; DLEC1 Esophageal cancer, somatic; 133239; TGFBR2 Esophageal carcinoma, somatic; 133239; RNF6 Esophageal squamous cell carcinoma; 133239; 40513 Esophageal squamous cell carcinoma; 133239; LZTS1 Esophageal squamous cell carcinoma; 133239; WWOX Ethylmalonic encephalopathy; 602473; ETHE1 Ewing sarcoma; 612219; EWSR1 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; 612714; COX4I2 Exostoses, multiple, type 1; 133700; EXT1 Exostoses, multiple, type 2; 133701; EXT2 Exudative vitreoretinopathy 4; 601813; LRP5 Exudative vitreoretinopathy 5; 613310; TSPAN12 Exudative vitreoretinopathy; 133780; FZD4 Exudative vitreoretinopathy, X-linked; 305390; NDP Fabry disease; 301500; GLA Fabry disease, cardiac variant; 301500; GLA Factor V and factor VIII, combined deficiency of; 227300; MCFD2 Factor V deficiency; 227400; F5 Factor XI deficiency, autosomal dominant; 612416; F11 Factor XI deficiency, autosomal recessive; 612416; F11 Factor XII deficiency; 234000; F12 Factor XIIIA deficiency; 613225; F13A1 Factor XIIIB deficiency; 613235; F13B Failure of tooth eruption, primary; 125350; PTHR1 Familial cold autoinflammatory syndrome 2; 611762; NALP12 Familial Mediterranean fever, AD; 134610; MEFV Familial Mediterranean fever, AR; 249100; MEFV Fanconi anemia, complementation group 0; 613390; RAD51C Fanconi anemia, complementation group A; 227650; FANCA Fanconi anemia, complementation group B; 300514; FAAP95 Fanconi anemia, complementation group D1; 605724; BRCA2 Fanconi anemia, complementation group I; 609053; FANCI Fanconi anemia, complementation group J; 609054; BRIP1 Fanconi anemia, complementation group N; 610832; PALB2 Fanconi renotubular syndrome 2; 613388; SLC34A1 Fanconi-Bickel syndrome; 227810; SLC2A2 Farber lipogranulomatosis; 228000; ASAH1 Fatty liver, acute, of pregnancy; 609016; HADHA Febrile convulsions, familial, 3A; 604403; SCN1A Febrile convulsions, familial, 3B; 604403; SCN9A Febrilel, convulsions, familial; 611277; GABRG2 Fechtner syndrome; 153640; MYH9 Feingold syndrome; 164280; MYCN Fertile eunuch syndrome; 228300; GNRHR Fetal akinesia deformation sequence; 208150; DOK7 Fetal akinesia deformation sequence; 208150; RAPSN Fetal hemoglobin quantitative trait locus 1; 141749; HBG1 Fetal hemoglobin quantitative trait locus 1; 141749; HBG2 FG syndrome 2; 300321; FLNA FG syndrome 4; 300422; CASK Fibrodysplasia ossificans progressiva; 135100; ACVR1 Fibromatosis, gingival; 135300; SOS1 Fibromatosis, gingival, 2; 135300; GINGF2 Fibromatosis, juvenile hyaline; 228600; ANTXR2 Fibrosis of extraocular muscles, congenital, 1; 135700; KIF21A Fibrosis of extraocular muscles, congenital, 2; 602078; PHOX2A Fibrosis of extraocular muscles, congenital, 3A; 600638; TUBB3 Fibrosis of extraocular muscles, congenital, 3B; 135700; KIF21A Fibular hypoplasia and complex brachydactyly; 228900; GDF5 Fish-eye disease; 136120; LCAT Fletcher factor deficiency; 612423; KLKB1 Focal cortical dysplasia, Taylor balloon cell type; 607341; TSC1 Focal dermal hypoplasia; 305600; PORCN Folate malabsorption, hereditary; 229050; SLC46A1 Follicle-stimulating hormone deficiency, isolated; 229070; FSHB Foveal hyperplasia; 136520; PAX6 Foveomacular dystrophy, adult-onset, with choroidal neovascularization; 608161; PRPH2 Fragile X syndrome; 300624; FMR1 Fragile X tremor/ataxia syndrome; 300623; FMR1 Frank-ter Haar syndrome; 249420; SH3PXD2B Fraser syndrome; 219000; FRAS1 Fraser syndrome; 219000; FREM2 Frasier syndrome; 136680; WT1 Friedreich ataxia with retained reflexes; 229300; FXN Friedreich ataxia; 229300; FXN Frontometaphyseal dysplasia; 305620; FLNA Frontonasal dysplasia 2; 613451; ALX4 Frontonasal dysplasia 3; 613456; ALX1 Frontorhiny; 136760; ALX3 Frontotemporal lobar degeneration with ubiquitin-positive inclusions; 607485; GRN Frontotemporal lobar degeneration, TARDBP-related; 612069; TARDBP Fructose intolerance; 229600; ALDOB Fructose-1,6-bisphosphatase deficiency; 229700; FBP1 Fucosidosis; 230000; FUCA1 Fuhrmann syndrome; 228930; WNT7A Fumarase deficiency; 606812; FH Fundus albipunctatus; 136880; RDH5 Fundus albipunctatus; 136880; RLBP1 Fundus flavimaculatus; 248200; ABCA4 GABA-transaminase deficiency; 613163; ABAT Galactokinase deficiency with cataracts; 230200; GALK1 Galactose epimerase deficiency; 230350; GALE Galactosemia; 230400; GALT Galactosialidosis; 256540; CTSA Gallbladder disease 1; 600803; ABCB4 Gallbladder disease 4; 611465; ABCG8 GAMT deficiency; 612736; GAMT Gastric cancer, familial diffuse; 137215; CDH1 Gastric cancer, somatic; 137215; APC Gastric cancer, somatic; 137215; CASP10 Gastric cancer, somatic; 137215; ERBB2 Gastric cancer, somatic; 137215; FGFR2 Gastric cancer, somatic; 137215; IRF1 Gastric cancer, somatic; 137215; KLF6 Gastric cancer, somatic; 137215; MUTYH Gastric cancer, somatic; 137215; PIK3CA Gastrointestinal stromal tumor, somatic; 606764; KIT Gastrointestinal stromal tumor, somatic; 606764; PDGFRA Gaucher disease, atypical; 610539; PSAP Gaucher disease, perinatal lethal; 608013; GBA Gaucher disease, type; 230800; GBA Gaucher disease, type II; 230900; GBA Gaucher disease, type III; 231000; GBA Gaucher disease, type IIIC; 231005; GBA Gaze palsy, horizontal, with progressive scoliosis; 607313; ROBO3 Geleophysic dysplasia; 231050; ADAMTSL2 Generalized epilepsy and paroxysmal dyskinesia; 609446; KCNMA1 Generalized epilepsy with febrile seizures plus; 604233; SCN1B Germ cell tumors; 273300; KIT Geroderma osteodysplasticum; 231070; SCYL1BP1 Gerstmann-Straussler disease; 137440; PRNP Ghosal syndrome; 231095; TBXAS1 Giant axonal neuropathy-1; 256850; GAN Gillespie syndrome; 206700; PAX6 Gitelman syndrome; 263800; SLC12A3 Glanzmann thrombasthenia, type A; 273800; ITGA2B Glaucoma 1, open angle, 1O; 613100; NTF4 Glaucoma 1, open angle, E; 137760; OPTN Glaucoma 1, open angle, G; 609887; WDR36 Glaucoma 1A, primary open angle, juvenile-onset; 137750; MYOC Glaucoma 1B, primary open angle, adult onset; 137760; GLC1B Glaucoma 3, primary congenital, D; 613086; LTBP2 Glaucoma 3A, primary congenital; 231300; CYP1B1 Glaucoma, primary open angle, adult-onset; 137760; CYP1B1 Glaucoma, primary open angle, juvenile-onset; 137750; CYP1B1 Glioblastoma, somatic; 137800; ERBB2 Globozoospermia; 102530; GOPC Globozoospermia; 102530; SPATA16 Glomerulocystic kidney disease with hyperuricemia and isosthenuria; 609886; UMOD Glomerulopathy with fibronectin deposits 2; 601894; FN1 Glomerulosclerosis, focal segmental, 1; 603278; ACTN4 Glomerulosclerosis, focal segmental, 2; 603965; TRPC6 Glomerulosclerosis, focal segmental, 3; 607832; CD2AP Glomerulosclerosis, focal segmental, 5; 613237; INF2 Glomuvenous malformations; 138000; GLML Glucocorticoid deficiency 2; 607398; MRAP Glucocorticoid deficiency, due to ACTH unresponsiveness; 202200; MC2R Glucose-galactose malabsorption; 606824; SLC5A1 GLUT1 deficiency syndrome 1; 606777; SLC2A1 GLUT1 deficiency syndrome 2; 612126; SLC2A1 Glutamate formiminotransferase deficiency; 229100; FTCD Glutamine deficiency, congenital; 610015; GLUL Glutaricaciduria, type I; 231670; GCDH Glutaricaciduria, type IIA; 231680; ETFA Glutaricaciduria, type IIB; 231680; ETFB Glutaricaciduria, type IIC; 231680; ETFDH Glutathione synthetase deficiency; 266130; GSS Glycerol kinase deficiency; 307030; GK Glycine encephalopathy; 605899; AMT Glycine encephalopathy; 605899; GCSH Glycine encephalopathy; 605899; GLDC Glycine N-methyltransferase deficiency; 606664; GNMT Glycogen storage disease 0, muscle; 611556; GYS1 Glycogen storage disease Ib; 232220; SLC37A4 Glycogen storage disease Ic; 232240; SLC37A4 Glycogen storage disease Ic; 232240; SLC17A3 Glycogen storage disease II; 232300; GAA Glycogen storage disease IIb; 300257; LAMP2 Glycogen storage disease IIIa; 232400; AGL Glycogen storage disease IIIb; 232400; AGL Glycogen storage disease IV; 232500; GBE1 Glycogen storage disease IXc; 613027; PHKG2 Glycogen storage disease of heart, lethal congenital; 261740; PRKAG2 Glycogen storage disease VII; 232800; PFKM Glycogen storage disease X; 261670; PGAM2 Glycogen storage disease XI; 612933; LDHA Glycogen storage disease XII; 611881; ALDOA Glycogen storage disease XIII; 612932; ENO3 Glycogen storage disease XIV; 612934; PGM1 Glycogen storage disease XV; 613507; GYG1 Glycogen storage disease type 0; 240600; GYS2 Glycogen storage disease, type IXa1; 306000; PHKA2 Glycogen storage disease, type IXa2; 306000; PHKA2 Glycosylphosphatidylinositol deficiency; 610293; PIGM GM1-gangliosidosis, type I; 230500; GLB1 GM1-gangliosidosis, type II; 230600; GLB1 GM1-gangliosidosis, type III; 230650; GLB1 GM2-gangliosidosis, AB variant; 272750; GM2A GM2-gangliosidosis, several forms; 272800; HEXA Gnathodiaphyseal dysplasia; 166260; ANO5 Goldberg-Shpritzen megacolon syndrome; 609460; KIAA1279 Gout, PRPS-related; 300661; PRPS1 GRACILE syndrome; 603358; BCS1L Greenberg dysplasia; 215140; LBR Greig cephalopolysyndactyly syndrome; 175700; GLI3 Griscelli syndrome type 1; 214450; MYO5A Griscelli syndrome type 2; 607624; RAB27A Griscelli syndrome type 3; 609227; MLPH Growth hormone deficiency with pituitary anomalies; 182230; HESX1 Growth hormone deficiency, isolated, type IA; 262400; GH1 Growth hormone deficiency, isolated, type IB; 612781; GH1 Growth hormone deficiency, isolated, type IB; 612781; GHRHR Growth hormone deficiency, isolated, type II; 173100; GH1 Growth hormone insensitivity with immunodeficiency; 245590; STAT5B Growth retardation with deafness and mental retardation due to IGF1 deficiency; 608747; IGF1 Growth retardation, developmental delay, coarse facies, and early death; 612938; FTO Guttmacher syndrome; 176305; HOXA13 Gyrate atrophy of choroid and retina with or without ornithinemia; 258870; OAT Haddad syndrome; 209880; ASCL1 Hailey-Hailey disease; 169600; ATP2C1 Haim-Munk syndrome; 245010; CTSC Hallermann-Streiff syndrome; 234100; GJA1 Hand-foot-uterus Syndrome; 140000; HOXA13 Harderoporphyria; 121300; CPOX HARP syndrome; 607236; PANK2 Hartnup disorder; 234500; SLC6A19 Hawkinsinuria; 140350; HPD Hay-Wells syndrome; 106260; TP63 HDL deficiency, type 2; 604091; ABCA1 Hearing loss, low-frequency sensorineural; 600965; WFS1 Heart block, nonprogressive; 113900; SCN5A Heart block, progressive, type IA; 113900; SCN5A Heinz body anemia; 140700; HBA2 Heinz body anemias, alpha-; 140700; HBA1 Heinz body anemias, beta-; 140700; HBB HELLP syndrome, maternal, of pregnancy; 609016; HADHA Hemangioma, capillary infantile, somatic; 602089; FLT4 Hemangioma, capillary infantile, somatic; 602089; KDR Hematopoiesis, cyclic; 162800; ELANE Hematuria, benign familial; 141200; COL4A3 Hemiplegic migraine, familial; 141500; CACNA1A Hemochromatosis, type 2A; 602390; HJV Hemochromatosis, type 2B; 613313; HAMP Hemochromatosis, type 3; 604250; TFR2 Hemochromatosis, type 4; 606069; SLC40A1 Hemolytic anemia due to adenylate kinase deficiency; 612631; AK1 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; 230450; GCLC Hemolytic anemia due to glutathione synthetase deficiency; 231900; GSS Hemolytic anemia due to hexokinase deficiency; 235700; HK1 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; 613470; GPI Hemolytic uremic syndrome, atypical, susceptibility to, 1; 235400; HF1 Hemophagocytic lymphohistiocytosis, familial, 2; 603553; PRF1 Hemophagocytic lymphohistiocytosis, familial, 3; 608898; UNC13D Hemophagocytic lymphohistiocytosis, familial, 4; 603552; STX11 Hemophilia B; 306900; F9 Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh; 613490; SERPINA1 Hemosiderosis, systemic, due to aceruloplasminemia; 604290; CP Hennekam lymphangiectasia-lymphedema syndrome; 235510; CCBE1 Hepatic adenoma; 142330; HNF1A Hepatic venoocclusive disease with immunodeficiency; 235550; SP110 Hepatocellular cancer; 114550; PDGFRL Hepatocellular carcinoma; 114550; CTNNB1 Hepatocellular carcinoma; 114550; TP53 Hepatocellular carcinoma, childhood type; 114550; MET Hepatocellular carcinoma, somatic; 114550; AXIN1 Hepatocellular carcinoma, somatic; 114550; CASP8 Hepatocellular carcinoma, somatic; 114550; PIK3CA Hereditary hemorrhagic telangiectasia-1; 187300; ENG Hereditary hemorrhagic telangiectasia-2; 600376; ACVRL1 Hereditary motor and sensory neuropathy VI; 601152; MFN2 Hereditary motor and sensory neuropathy, type IIc; 606071; TRPV4 Hermansky-Pudlak syndrome 1; 203300; HPS1 Hermansky-Pudlak syndrome 2; 608233; AP3B1 Hermansky-Pudlak syndrome 3; 203300; HPS3 Hermansky-Pudlak syndrome 4; 203300; HPS4 Hermansky-Pudlak syndrome 5; 203300; HPS5 Hermansky-Pudlak syndrome 6; 203300; HPS6 Hermansky-Pudlak syndrome 7; 203300; DTNBP1 Hermansky-Pudlak syndrome 8; 203300; BLOC1S3 Heterotaxy, visceral, 1, S-linke; 306955; ZIC3 Heterotaxy, visceral, 2, autosomal; 605376; CFC1 Heterotaxy, visceral, 5; 270100; NODAL Heterotopia, periventricular; 300049; FLNA Heterotopia, periventricular, ED variant; 300537; FLNA Hirschsprung disease; 142623; GDNF Hirschsprung disease; 142623; RET Hirschsprung disease, short-segment; 142623; PMX2B Histiocytoma, angiomatoid fibrous, somatic; 612160; CREB1 HMG-CoA synthase-2 deficiency; 605911; HMGCS2 Hodgkin lymphoma; 236000; KLHDC8B Holocarboxylase synthetase deficiency; 253270; HLCS Holoprosencephaly-2; 157170; SIX3 Holoprosencephaly-3; 142945; SHH Holoprosencephaly-4; 142946; TGIF Holoprosencephaly-5; 609637; ZIC2 Holoprosencephaly-7; 610828; PTCH1 Holoprosencephaly-9; 610829; GLI2 Holt-Oram syndrome; 142900; TBX5 Homocystinuria due to MTHFR deficiency; 236250; MTHFR Homocystinuria, B6-responsive and nonresponsive types; 236200; CBS Homocystinuria, cblD type, variant 1; 277410; C2orf25 Homocystinuria-megaloblastic anemia, cbl E type; 236270; MTRR Hoyeraal-Hreidarsson syndrome; 300240; DKC1 HPRT-related gout; 300323; HPRT1 Huntington disease; 143100; HTT Huntington disease-like 1; 603218; PRNP Huntington disease-like 2; 606438; JPH3 Huchinson-Gilford Progeria; 176670; LMNA Hyalinosis, infantile systemic; 236490; ANTXR2 Hydatidiform mole; 231090; NALP7 Hydranencephaly with abnormal genitalia; 300215; ARX Hydrocephalus due to aqueductal stenosis; 307000; L1CAM Hydrocephalus with congenital idiopathic intestinal pseudoobstruction; 307000; L1CAM Hydrocephalus with Hirschsprung disease and cleft palate; 142623; L1CAM Hydrolethalus syndrome; 236680; HYLS1 Hyperalphalipoproteinemia; 143470; CETP Hyperbilirubinemia, familial transcient neonatal; 237900; UGT1A1 Hypercarotenemia and vitamin A deficiency, autosomal dominant; 115300; BCMO1 Hypercholanemia, familial; 607748; BAAT Hypercholanemia, familial; 607748; EPHX1 Hypercholanemia, familial; 607748; TJP2 Hypercholesterolemia, due to ligand-defective apo B; 144010; APOB Hypercholesterolemia, familial; 143890; LDLR Hypercholesterolemia, familial, 3; 603776; PCSK9 Hypercholesterolemia, familial, autosomal recessive; 603813; LDLRAP1 Hypercholesterolemia, familial, modification of; 143890; APOA2 Hyperchylomicronemia, late-onset; 144650; APOA5 Hyperekplexia and epilepsy; 300607; ARHGEF9 Hyperekplexia; 149400; GPHN Hyperekplexia; 149400; SLC6A5 Hyperekplexia, autosomal recessive; 149400; GLRB Hypereosinophilic syndrome, idiopathic, resistant to imatinib; 607685; PDGFRA Hyperferritinemia-cataract syndrome; 600886; FTL Hyperfibrinolysis, familial, due to increased release of PLAT; 612348; PLAT Hyperglycinuria; 138500; SLC36A2 Hyperglycinuria; 138500; SLC6A19 Hyperglycinuria; 138500; SLC6A20 Hyper-IgD syndrome; 260920; MVK Hyper-IgE recurrent infection syndrome; 147060; STAT3 Hyper-IgE recurrent infection syndrome, autosomal recessive; 243700; DOCK8 Hyperinsulinemic hypoglycemia, familial, 1; 256450; ABCC8 Hyperinsulinemic hypoglycemia, familial, 2; 601820; KCNJ11 Hyperinsulinemic hypoglycemia, familial, 3; 602485; GCK Hyperinsulinemic hypoglycemia, familial, 4; 609975; HADHSC Hyperinsulinemic hypoglycemia, familial, 5; 609968; INSR Hyperinsulinemic hypoglycemia, familial, 7; 610021; SLC16A1 Hyperinsulinism-hyperammonemia syndrome; 606762; GLUD1 Hyperkalemic periodic paralysis, type 2; 613345; SCN4A Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations; 116860; CCM1 Hyperlipoproteinemia, type Ib; 207750; APOC2 Hyperlysinemia; 238700; AASS Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; 250850; MAT1A Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; 238970; SLC25A15 Hyperostosis, endosteal; 144750; LRP5 Hyperoxaluria, primary, type 1; 259900; AGXT Hyperoxaluria, primary, type II; 260000; GRHPR Hyperoxaluria, primary, type III; 613616; DHDPSL Hyperparathyroidism, AD; 145000; MEN1 Hyperparathyroidism, familial primary; 145000; HRPT2 Hyperparathyroidism, neonatal; 239200; CASR Hyperparathyroidism-jaw tumor syndrome; 145001; HRPT2 Hyperpehnylalaninemia, BH4-deficient, B; 233910; GCH1 Hyperphenylalaninemia, BH4-deficient, A; 261640; PTS Hyperphenylalaninemia, BH4-deficient, C; 261630; QDPR Hyperphenylalaninemia, BH4-deficient, D; 264070; PCBD Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism; 612391; SLC29A3 Hyperpigmentation, familial progressive; 145250; KITLG Hyperprolinemia, type I; 239500; PRODH Hyperprolinemia, type II; 239510; ALDH4A1 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy; 605115; NR3C2 Hypertension, essential; 145500; PNMT Hypertension, essential; 145500; AGTR1 Hypertension, essential; 145500; PTGIS Hyperthyroidism, familial gestational; 603373; TSHR Hyperthyroidism, nonautoimmune; 609152; TSHR Hypertrophic osteoarthropathy, primary, autosomal recessive; 259100; HPGD Hyperuricemic nephropathy, familial juvenile 1; 162000; UMOD Hyperuricemic nephropathy, familial juvenile 2; 613092; REN Hypoaldosteronism, congenital, due to CMO I deficiency; 203400; CYP11B2 Hypoaldosteronism, congenital, due to CMO II deficiency; 610600; CYP11B2 Hypoalphalipoproteinemia; 604091; APOA1 Hypocalcemia, autosomal dominant; 146200; CASR Hypocalciuric hypercalcemia, type I; 145980; CASR Hypochondroplasia; 146000; FGFR3 Hypoglycemia of infancy, leucine-sensitive; 240800; ABCC8 Hypogonadism, hypogonadotropic; 146110; PROK2 Hypogonadotropic hypogonadism due to GNRH deficiency; 227200; GNRH1 Hypogonadotropic hypogonadism; 146110; CHD7 Hypogonadotropic hypogonadism; 146110; FGFR1 Hypogonadotropic hypogonadism; 146110; KISS1R Hypogonadotropic hypogonadism; 146110; NELF Hypogonadotropic hypogonadism; 146110; TAC3 Hypogonadotropic hypogonadism; 146110; TACR3 Hypokalemic periodic paralysis type 1; 170400; CACNA1S Hypomagnesemia 4, renal; 611718; EGF Hypomagnesemia with secondary hypocalcemia; 602014; TRPM6 Hypomagnesemia, primary; 248250; CLDN16 Hypomagnesemia, renal, with ocular involvement; 248190; CLDN19 Hypomagnesemia-2, renal; 154020; FXYD2 Hypomyelination, global cerebral; 612949; SLC25A12 Hypoparathyroidism, autosomal dominant; 146200; PTH Hypoparathyroidism, autosomal recessive; 146200; PTH Hypoparathyroidism, familial isolated; 146200; GCMB Hypoparathyroidism, sensorineural deafness, and renal dysplasia; 146255; GATA3 Hypoparathyroidism-retardation-dysmorphism syndrome; 241410; TBCE Hypophosphatasia, adult; 146300; ALPL Hypophosphatasia, childhood; 241510; ALPL Hypophosphatasia, infantile; 241500; ALPL Hypophosphatemia, X-linked; 307800; PHEX Hypophosphatemic rickets with hypercalciuria; 241530; SLC34A3 Hypophosphatemic rickets; 300554; CLCN5 Hypophosphatemic rickets, AR; 241520; DMP1 Hypophosphatemic rickets, autosomal dominant; 193100; FGF23 Hypophosphatemic rickets, autosomal recessive, 2; 613312; ENPP1 Hypoplastic left heart syndrome; 241550; GJA1 Hypoproteinemia, hypercatabolic; 241600; B2M Hypospadias 1, X-linked; 300633; AR Hypospadias 2, X-linked; 300758; MAMLD1 Hypothryoidism, congenital, nongoitrous 4; 275100; TSHB Hypothyroidism, congenital nongoitrous, 5; 225250; NKX2E Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia; 218700; PAX8 Hypothyroidism, congenital, nongoitrous; 275200; TSHR Hypotrichosis and recurrent skin vesicles; 613102; DSC3 Hypotrichosis simplex of scalp; 146520; CDSN Hypotrichosis, congenital, with juvenile macular dystrophy; 601553; CDH3 Hypotrichosis, hereditary, Marie Unna type, 1; 146550; HR Hypotrichosis, localized, autosomal recessive 2; 604379; LIPH Hypotrichosis, localized, autosomal recessive, 3; 611452; P2RY5 Hypotrichosis, localized, autosomal recessive; 607903; DSG4 Hypotrichosis-lymphedema-telangiectasia syndrome; 607823; SOX18 Hypouricemia, renal, 2; 612076; SLC2A9 Hypouricemia, renal; 220150; SLC22A12 Hystrix-like ichthyosis with deafness; 602540; GJB2 Ichthyosiform erythroderma, congenital; 242100; TGM1 Ichthyosiform erythroderma, congenital, nonbullous, 1; 242100; ALOX12B Ichthyosiform erythroderma, congenital, nonbullous, 1; 242100; ALOXE3 Ichthyosis bullosa of Siemens; 146800; KRT2 Ichthyosis follicularis, atrichia, and photophobia syndrome; 308205; MBTPS2 Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic; 600962; KRT1 Ichthyosis prematurity syndrome; 608649; SLC27A4 Ichthyosis vulgaris; 146700; FLG Ichthyosis with confetti; 609165; KRT10 Ichthyosis with hypotrichosis; 610765; ST14 Ichthyosis, congenital, autosomal recessive; 612281; ICHYN Ichthyosis, cyclic, with epidermolytic hyperkeratosis; 607602; KRT1 Ichthyosis, cyclic, with epidermolytic hyperkeratosis; 607602; KRT10 Ichthyosis, harlequin; 242500; ABCA12 Ichthyosis, lamellar 2; 601277; ABCA12 Ichthyosis, lamellar, 3; 604777; CYP4F22 Ichthyosis, lamellar, autosomal recessive; 242300; TGM1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; 607626; CLDN1 Ichthyosis, x-linked; 308100; STS Iminoglycinuria, digenic; 242600; SLC36A2 Iminoglycinuria, digenic; 242600; SLC6A19 Iminoglycinuria, digenic; 242600; SLC6A20 Immune dysfunction with T-cell inactivation due to calcium entry defect 1; 612782; ORAI1 Immune dysfunction, with T-cell inactivation due to calcium entry defect 2; 612783; STIM1 Immunodeficiency due to defect in CD3-zeta; 610163; CD247 Immunodeficiency due to defect in MAPBP-interacting protein; 610798; MAPBPIP Immunodeficiency due to purine nucleoside phosphorylase deficiency; 613179; PNP Immunodeficiency with hyper IgM, type 4; 608106; UNG Immunodeficiency with hyper-IgM, type 2; 605258; AICDA Immunodeficiency with hyper-IgM, type 3; 606843; TNFRSF5 Immunodeficiency, common variable, 1; 607594; ICOS Immunodeficiency, common variable, 2; 240500; TNFRSF13B Immunodeficiency, common variable, 3; 613493; CD19 Immunodeficiency, common variable, 4; 613494; TNFRSF13C Immunodeficiency, common variable, 5; 613495; MS4A1 Immunodeficiency, common variable, 6; 613496; CD81 Immunodeficiency, hypogammaglobulinemia, and reduced B cells; 612692; CD79B Immunodeficiency, isolated; 300584; IKBKG Immunodeficiency, X-linked, with hyper-IgM; 308230; TNFSF5 Immunodeficiency-centromeric instability-facial anomalies syndrome; 242860; DNMT3B Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; 304790; FOXP3 Immunoglobulin A deficiency 2; 609529; TNFRSF13B Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; 167320; VCP Inclusion body myopathy, autosomal recessive; 600737; GNE Inclusion body myopathy-3; 605637; MYH2 Incontinentia pigmenti, type II; 308300; IKBKG Infantile neuroaxonal dystrophy 1; 256600; PLA2G6 Inflammatory bowel disease 25; 612567; CRFB4 Insensitivity to pain, channelopathy-associated; 243000; SCN9A Insensitivity to pain, congenital, with anhidrosis; 256800; NTRK1 Insomnia, fatal familial; 600072; PRNP Insulin resistance, severe, digenic; 604367; PPARG Insulin resistance, severe, digenic; 604367; PPP1R3A Insulin-like growth factor I, resistance to; 270450; IGF1R Interleukin 1 receptor antagonist deficiency; 612852; IL1RN Interleukin-2 receptor, alpha chain, deficiency of; 606367; IL2RA Intestinal pseudoobstruction, neuronal; 300048; FLNA Intrinsic factor deficiency; 261000; GIF Invasive pneumococcal disease, recurrent isolated, 1; 610799; IRAK4 IRAK4 deficiency; 607676; IRAK4 Iridogoniodysgenesis, type 1; 601631; FOXC1 Iridogoniodysgenesis, type 2; 137600; PITX2 Iris hypoplasia and glaucoma; 601631; FOXC1 Iron-refractory iron deficiency anemia; 206200; TMPRSS6 Isobutyryl-CoA dehydrogenase deficiency; 611283; ACAD8 Isovaleric acidemia; 243500; IVD IVIC syndrome; 147750; SALL4 Jackson-Weiss syndrome; 123150; FGFR1 Jackson-Weiss syndrome; 123150; FGFR2 Jalili syndrome; 217080; CNNM4 Jensen syndrome; 311150; TIMM8A Jervell and Lange-Nielsen syndrome 2; 612347; KCNE1 Jervell and Lange-Nielsen syndrome; 220400; KCNQ1 Johanson-Blizzard syndrome; 243800; UBR1 Joubert syndrome 1; 213300; INPP5E Joubert syndrome 10; 300804; OFD1 Joubert syndrome 2; 608091; TMEM216 Joubert syndrome 4; 609583; NPHP1 Joubert syndrome 5; 610188; CEP290 Joubert syndrome 6; 610688; TMEM67 Joubert syndrome 7; 611560; RPGRIP1L Joubert syndrome 8; 612291; ARL13B Joubert syndrome 9; 612285; CC2D2A Joubert syndrome-3; 608629; AHI1 Juvenile polyposis syndrome, infantile form; 174900; BMPR1A Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; 175050; MADH4 Kallmann syndrome 2; 147950; FGFR1 Kallmann syndrome 3; 244200; PROKR2 Kallmann syndrome 4; 610628; PROK2 Kallmann syndrome 5; 612370; CHD7 Kallmann syndrome 6; 612702; FGF8 Kanzaki disease; 609242; NAGA Karak syndrome; 610217; PLA2G6 Kenny-Caffey syndrome-1; 244460; TBCE Keratitis; 148190; PAX6 Keratitis-ichthyosis-deafness syndrome; 148210; GJB2 Keratoconus; 148300; VSX1 Keratoderma, palmoplantar, with deafness; 148350; GJB2 Keratosis follicularis spinulosa decalvans; 308800; SAT1 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; 601952; POMP Keratosis palmoplantaris striata I; 148700; DSG1 Keratosis palmoplantaris striata II; 612908; DSP Keratosis palmoplantaris striata III; 607654; KRT1 Keratosis, seborrheic, somatic; 182000; PIK3CA Keutel syndrome; 245150; MGP Kindler syndrome; 173650; KIND1 Kleefstra syndrome; 610253; EHMT1 Klippel-Feil syndrome, autosomal dominant; 118100; GDF6 Kniest dysplasia; 156550; COL2A1 Knobloch syndrome, type 1; 267750; COL18A1 Kowarski syndrome; 262650; GH1 Krabbe disease; 245200; GALC Krabbe disease, atypical; 611722; PSAP L-2-hydroxyglutaric aciduria; 236792; L2HGDH Lactase deficiency, congenital; 223000; LCT Lactase persistance/nonpersistance; 223100; MCM6 Lactic acidosis, fatal infantile; 245400; SUCLG1 Lacticacidemia due to PDX1 deficiency; 245349; PDX1 LADD syndrome; 149730; FGF10 LADD syndrome; 149730; FGFR3 Laing distal myopathy; 160500; MYH7 Langer mesomelic dysplasia; 249700; SHOX Langer mesomelic dysplasia; 249700; SHOXY Laron dwarfism; 262500; GHR Larsen syndrome; 150250; FLNB Laryngoonychocutaneous syndrome; 245660; LAMA3 Lathosterolosis; 607330; SC5DL LCHAD deficiency; 609016; HADHA Leber congenital amaurosis 1; 204000; GUCY2D Leber congenital amaurosis 10; 611755; CEP290 Leber congenital amaurosis 12; 610612; RD3 Leber congenital amaurosis 13; 612712; RDH12 Leber congenital amaurosis 14; 613341; LRAT Leber congenital amaurosis 2; 204100; RPE65 Leber congenital amaurosis 3; 604232; SPATA7 Leber congenital amaurosis 4; 604393; AIPL1 Leber congenital amaurosis 5; 604537; LCA5 Left ventricular noncompaction 1, with or without congenital heart defects; 604169; DTNA Left ventricular noncompaction 3, with or without dilated cardiomyopathy; 601493; LDB3 Left ventricular noncompaction 4; 613424; ACTC1 Left ventricular noncompaction 5; 613426; MYH7 Left ventricular noncompaction 6; 601494; TNNT2 Left ventricular noncompaction, X-linked; 300183; TAZ Legius syndrome; 611431; SPRED1 Leigh syndrome due to cytochrome c oxidase deficiency; 256000; COX15 Leigh syndrome due to mitochondrial complex I deficiency; 256000; C8orf38 Leigh syndrome due to mitochondrial complex I deficiency; 256000; NDUFA2 Leigh syndrome; 256000; BCS1L Leigh syndrome; 256000; DLD Leigh syndrome; 256000; NDUFS3 Leigh syndrome; 256000; NDUFS4 Leigh syndrome; 256000; NDUFS7 Leigh syndrome; 256000; NDUFS8 Leigh syndrome; 256000; NDUFV1 Leigh syndrome; 256000; SDHA Leigh syndrome, due to COX deficiency; 256000; SURF1 Leigh syndrome, French-Canadian type; 220111; LRPPRC Leigh syndrome, X-linked; 308930; PDHA1 Leiomyomatosis and renal cell cancer; 605839; FH Leiomyomatosis, diffuse, with Alport syndrome; 308940; COL4A6 LEOPARD syndrome 2; 611554; RAF1 Leopard syndrome; 151100; PTPN11 Leprechaunism; 246200; INSR Leri-Weill dyschondrosteosis; 127300; SHOX Leri-Weill dyschondrosteosis; 127300; SHOXY Lesch-Nyhan syndrome; 300322; HPRT1 Lethal congenital contractural syndrome 2; 607598; ERBB3 Lethal congenital contractural syndrome 3; 611369; PIP5K1C Lethal congenital contracture syndrome 1; 253310; GLE1 Leukemia, acute lymphocytic; 613065; BCR Leukemia, acute myelogenous; 601626; AMLCR2 Leukemia, acute myelogenous; 601626; GMPS Leukemia, acute myelogenous; 601626; JAK2 Leukemia, acute myeloid; 601626; MLF1 Leukemia, acute myeloid; 601626; NSD1 Leukemia, acute myeloid; 601626; SH3GL1 Leukemia, acute myeloid; 601626; AF10 Leukemia, acute myeloid; 601626; ARHGEF12 Leukemia, acute myeloid; 601626; CEBPA Leukemia, acute myeloid; 601626; FLT3 Leukemia, acute myeloid; 601626; KIT Leukemia, acute myeloid; 601626; LPP Leukemia, acute myeloid; 601626; NPM1 Leukemia, acute myeloid; 601626; NUP214 Leukemia, acute myeloid; 601626; PICALM Leukemia, acute myeloid; 601626; RUNX1 Leukemia, acute myeloid; 601626; WHSC1L1 Leukemia, acute myeloid, somatic; 601626; ETV6 Leukemia, acute promyelocytic; 612376; RARA Leukemia, chronic myeloid; 608232; BCR Leukemia, juvenile myelomonocytic; 607785; ARHGAP26 Leukemia, juvenile myelomonocytic; 607785; NF1 Leukemia, juvenile myelomonocytic; 607785; PTPN11 Leukemia, megakaryoblastic, of Down syndrome; 190685; GATA1 Leukemia, megakaryoblastic, with or without Down syndrome; 190685; GATA1 Leukocyte adhesion deficiency; 116920; ITGB2 Leukocyte adhesion deficiency, type III; 612840; KIND3 Leukodystrophy, adult-onset, autosomal dominant; 169500; LMNB1 Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia; 612443; FA2H Leukodystrophy, hypomyelinating, 2; 608804; GJC2 Leukodystrophy, hypomyelinating, 4; 612233; HSPD1 Leukodystrophy, hypomyelinating, 5; 610532; FAM126A Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; 611105; DARS2 Leukoencephalopathy with vanishing white matter; 603896; EIF2B1 Leukoencephalopathy with vanishing white matter; 603896; EIF2B2 Leukoencephalopathy with vanishing white matter; 603896; EIF2B3 Leukoencephalopathy with vanishing white matter; 603896; EIF2B5 Leukoencephalopathy, cystic, without megalencephaly; 612951; RNASET2 Leukoencephaly with vanishing white matter; 603896; EIF2B4 Leydig cell adenoma, somatic, with precocious puberty; 176410; LHCGR Leydig cell hypoplasia with hypergonadotropic hypogonadism; 238320; LHCGR Leydig cell hypoplasia with pseudohermaphroditism; 238320; LHCGR Lhermitte-Duclos syndrome; 158350; PTEN Liddle syndrome; 177200; SCNN1B Liddle syndrome; 177200; SCNN1G Li-Fraumeni syndrome; 151623; CDKN2A Li-Fraumeni syndrome; 151623; TP53 Li-Fraumeni syndrome; 609265; CHEK2 Li-Fraumeni-like syndrome; 151623; TP53 LIG4 syndrome; 606593; LIG4 Limb-mammary syndrome; 603543; TP63 Lipase deficiency, combined; 246650; LMF1 Lipodystrophy, congenital generalized, type 1; 608594; AGPAT2 Lipodystrophy, congenital generalized, type 2; 269700; BSCL2 Lipodystrophy, congenital generalized, type 3; 612526; CAV1 Lipodystrophy, congenital generalized, type 4; 613327; PTRF Lipodystrophy, familial partial; 151660; LMNA Lipodystrophy, familial partial, type 3; 604367; PPARG Lipodystrophy, partial, acquired; 608709; LMNB2 Lipoid adrenal hyperplasia; 201710; STAR Lipoid congenital adrenal hyperplasia; 201710; CYP11A Lipoid proteinosis; 247100; ECM1 Lipoprotein glomerulopathy; 611771; APOE Lipoprotein lipase deficiency; 238600; LPL Lissencephaly 3; 611603; TUBA1A Lissencephaly syndrome, Norman-Roberts type; 257320; RELN Lissencephaly, X-linked 2; 300215; ARX Lissencephaly, X-linked; 300067; DCX Lissencephaly-1; 607432; PAFAH1B1 Liver failure, acute infantile; 613070; TRMU Loeys-Dietz syndrome, type 1A; 609192; TGFBR1 Loeys-Dietz syndrome, type 1B; 610168; TGFBR2 Loeys-Dietz syndrome, type 2A; 608967; TGFBR1 Loeys-Dietz syndrome, type 2B; 610380; TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome-10; 611819; SCN4B Long QT syndrome-11; 611820; AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; 611818; CAV3 Lowe syndrome; 309000; OCRL Lujan-Fryns syndrome; 309520; MED12 Lung cancer; 211980; DLEC1 Lung cancer; 211980; RASSF1 Lung cancer; 211980; KRAS Lung cancer; 211980; PPP2R1B Lung cancer; 211980; SLC22A1L Lung cancer, somatic; 211980; MAP3K8 Luteinizing hormone resistance, female; 238320; LHCGR Lymphangioleiomyomatosis; 606690; TSC1 Lymphangioleiomyomatosis, somatic; 606690; TSC2 Lymphedema, hereditary I; 153100; FLT4 Lymphedema, hereditary, IC; 613480; GJC2 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; 153400; FOXC2 Lymphedema-distichiasis syndrome; 153400; FOXC2 Lymphoma, non-Hodgkin; 605027; PRF1 Lymphoma, non-Hodgkin, somatic; 605027; RAD54L Lymphoproliferative syndrome, EBV-associated, autosomal, 1; 613011; ITK Lymphoproliferative syndrome, X-linked, 2; 300635; BIRC4 Lymphoproliferative syndrome, X-linked; 308240; SH2D1A Lysinuric protein intolerance; 222700; SLC7A7 Lysosomal acid phosphatase deficiency; 200950; ACP2 Lysyl hydroxylase 3 deficiency; 612394; PLOD3 Machado-Joseph disease; 109150; ATXN3 Macrocephaly, alopecia, cutis laxa, and scoliosis; 613075; RIN2 Macrocephaly/autism syndrome; 605309; PTEN Macrocytic anemia, refractory, due to 5q deletion, somatic; 153550; RPS14 Macrothrombocytopenia and progressive sensorineural deafness; 600208; MYH9 Macrothrombocytopenia; 300367; GATA1 Macrothrombocytopenia, autosomal dominant, TUBB1-related; 613112; TUBB1 Macular corneal dystrophy; 217800; CHST6 Macular degeneration, age-related, 11; 611953; CST3 Macular degeneration, age-related, 2; 153800; ABCA4 Macular degeneration, age-related, 3; 608895; FBLN5 Macular degeneration juvenile; 248200; CNGB3 Macular dystrophy, autosomal dominant, chromosome 6-linked; 600110; ELOVL4 Macular dystrophy, patterned; 169150; PRPH2 Macular dystrophy, retinal, 2; 608051; PROM1 Macular dystrophy, vitelliform; 608161; PRPH2 Majeed syndrome; 609628; LPIN2 Major depressive disorder 1; 608516; MDD1 Major depressive disorder 2; 608516; MDD2 Male infertility with large-headed, multiflagellar, polyploid spermatozoa; 243060; STK13 Male infertility, nonsyndromic, autosomal recessive; 612997; CATSPER1 Malonyl-CoA decarboxylase deficiency; 248360; MLYCD Mandibuloacral dysplasia with type B lipodystrophy; 608612; ZMPSTE24 Mandibuloacral dysplasia; 248370; LMNA Mannosidosis, alpha-, types I and II; 248500; MAN2B1 Mannosidosis, beta; 248510; MANBA Maple syrup urine disease, type Ia; 248600; BCKDHA Maple syrup urine disease, type Ib; 248600; BCKDHB Maple syrup urine disease, type II; 248600; DBT Maple syrup urine disease, type III; 248600; DLD Marfan syndrome; 154700; FBN1 Marinesco-Sjogren syndrome; 248800; SIL1 Maroteaux-Lamy syndrome, several forms; 253200; ARSB Marshall syndrome; 154780; COL11A1 Martsolf syndrome; 212720; RAB3GAP2 MASA syndrome; 303350; L1CAM MASS syndrome; 604308; FBN1 Mast syndrome; 248900; ACP33 Maturity-onset diabetes of the young 6; 606394; NEUROD1 Maturity-onset diabetes of the young, type 10; 613370; INS Maturity-onset diabetes of the young, type 11; 613375; BLK Maturity-onset diabetes of the young, type IX; 612225; PAX4 Maturity-onset diabetes of the young, type VII; 610508; KLF11 Maturity-onset diabetes of the young, type VIII; 609812; CEL May-Hegglin anomaly; 155100; MYH9 McArdle disease; 232600; PYGM McCune-Albright syndrome; 174800; GNAS McKusick-Kaufman syndrome; 236700; MKKS Meacham syndrome; 608978; WT1 Meckel syndrome 7; 267010; NPHP3 Meckel syndrome type 4; 611134; CEP290 Meckel syndrome, type 1; 249000; MKS1 Meckel syndrome, type 3; 607361; TMEM67 Meckel syndrome, type 5; 611561; RPGRIP1L Meckel syndrome, type 6; 612284; CC2D2A Medullary cystic kidney disease 2; 603860; UMOD Medullary thyroid carcinoma; 155240; RET Medullary thyroid carcinoma, familial; 155240; NTRK1 Medulloblastoma; 155255; PTCH2 Medulloblastoma, desmoplastic; 155255; SUFU Meesmann corneal dystrophy; 122100; KRT12 Meesmann corneal dystrophy; 122100; KRT3 Megalencephalic leukoencephalopathy with subcortical cysts; 604004; MLC1 Megaloblastic anemia-1, Finnish type; 261100; CUBN Megaloblastic anemia-1, Norwegian type; 261100; AMN Melanoma and neural system tumor syndrome; 155755; CDKN2A Melanoma; 609048; CDK4 Melanoma, cutaneous malignant, 2; 155601; CDKN2A Meleda disease; 248300; SLURP1 Melnick-Needles syndrome; 309350; FLNA Melorheostosis with osteopoikilosis; 155950; LEMD3 Membranoproliferative glomerulonephritis with CFH deficiency; 609814; HF1 Meningioma; 607174; MN1 Meningioma, NF2-related, somatic; 607174; NF2 Menkes disease; 309400; ATP7A Mental retardation and microcephaly with pontine and cerebellar hypoplasia; 300749; CASK Mental retardation in cri-du-chat syndrome; 123450; CTNND2 Mental retardation syndrome, X-linked, Cabezas type; 300354; CUL4B Mental retardation syndrome, X-linked, Siderius type; 300263; PHF8 Mental retardation, autosomal dominant 1; 156200; MBD5 Mental retardation, autosomal dominant 3; 612580; CDH15 Mental retardation, autosomal dominant 4; 612581; KIRREL3 Mental retardation, autosomal dominant 5; 612621; SYNGAP Mental retardation, autosomal recessive 1; 249500; PRSS12 Mental retardation, autosomal recessive 13; 613192; TRAPPC9 Mental retardation, autosomal recessive 2A; 607417; CRBN Mental retardation, autosomal recessive 3; 608443; CC2D1A Mental retardation, autosomal recessive 7; 611093; TUSC3 Mental retardation, autosomal recessive, 6; 611092; GRIK2 Mental retardation, FRA12A type; 136630; DIP2B Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities; 612652; PYCS Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; 613443; MEF2C Mental retardation, truncal obesity, retinal dystrophy, and micropenis; 610156; INPP5E Mental retardation, X-linked 1; 309530; IQSEC2 Mental retardation, X-linked 17/31, microduplication; 300705; HSD17B10 Mental retardation, X-linked 30; 300558; PAK3 Mental retardation, X-linked 36/43/54; 300419; ARX Mental retardation, X-linked 45; 300498; ZNF81 Mental retardation, X-linked 58; 300210; TM4SF2 Mental retardation, X-linked 59; 300630; AP1S2 Mental retardation, X-linked 93; 300659; BRWD3 Mental retardation, X-linked 94; 300699; GRIA3 Mental retardation, X-linked 95; 300716; MAGT1 Mental retardation, X-linked nonspecific; 309541; GDI1 Mental retardation, X-linked nonspecific, 63; 300387; ACSL4 Mental retardation, X-linked nonspecific, type 46; 300436; ARHGEF6 Mental retardation, X-linked syndromic 10; 300220; HSD17B10 Mental retardation, X-linked syndromic, Christianson type; 300243; SLC9A6 Mental retardation, X-linked syndromic, Turner type; 300706; HUWE1 Mental retardation, X-linked, 21/34; 300143; IL1RAPL1 Mental retardation, X-linked; 300495; NLGN4 Mental retardation, X-linked, FRAXE type; 309548; AFF2 Mental retardation, X-linked, Lubs type; 300260; MECP2 Mental retardation, X-linked, Snyder-Robinson type; 309583; SMS Mental retardation, X-linked, syndromic 13; 300055; MECP2 Mental retardation, X-linked, syndromic 14; 300676; UPF3B Mental retardation, X-linked, syndromic, JARID1C-related; 300534; KDM5C Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance; 300486; OPHN1 Mental retardation, X-linked, with epilepsy; 300423; ATP6AP2 Mental retardation, X-linked, with isolated growth hormone deficiency; 300123; SOX3 Mental retardation, X-linked, with or without epilepsy; 300802; SYP Mental retardation, X-linked, ZDHHC9-related; 300799; ZDHHC9 Mental retardation, X-linked-72; 300271; RAB39B Mental retardation, X-linked-9; 309549; FTSJ1 Mental retardation, X-linked-91; 300577; ZDHHC15 Mental retardation-hypotonic facies syndrome, X-linked, 2; 300639; CUL4B Mental retardation-hypotonic facies syndrome, X-linked; 309580; ATRX Mephenytoin poor metabolizer; 609535; CYP2C Metachondromatosis; 156250; PTPN11 Metachromatic leukodystrophy due to SAP-b deficiency; 249900; PSAP Metachromatic leukodystrophy; 250100; ARSA Metaphyseal anadysplasia 1; 602111; MMP13 Metaphyseal anadysplasia 2; 613073; MMP9 Metaphyseal chondrodysplasia, Murk Jansen type; 156400; PTHR1 Metaphyseal dysplasia without hypotrichosis; 250460; RMRP Metatropic dysplasia; 156530; TRPV4 Methemoglobinemia, type I; 250800; CYB5R3 Methemoglobinemia, type II; 250800; CYB5R3 Methemoglobinemia, type IV; 250790; CYB5A Methionine adenosyltransferase deficiency, autosomal recessive; 250850; MAT1A Methylcobalamin deficiency, cblG type; 250940; MTR Methylmalonic aciduria and homocystinuria, cblC type; 277400; MMACHC Methylmalonic aciduria and homocystinuria, cblD type; 277410; C2orf25 Methylmalonic aciduria and homocystinuria, cblF type; 277380; LMBRD1 Methylmalonic aciduria due to transcobalamin receptor defect; 613646; CD320 Methylmalonic aciduria, cblD type, variant 2; 277410; C2orf25 Methylmalonic aciduria, vitamin B12-responsive; 251100; MMAA Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; 251110; MMAB Methylmalonyl-CoA epimerase deficiency; 251120; MCEE Mevalonic aciduria; 610377; MVK MHC class II deficiency, complementation group B; 209920; RFXANK Micochondrial phosphate carrier deficiency; 610773; SLC25A3 Microcephalic osteodysplastic primordial dwarfism type II; 210720; PCNT Microcephaly and digital abnormalities with normal intelligence; 602585; MYCN Microcephaly, Amish type; 607196; SLC25A19 Microcephaly, autosomal recessive 1; 251200; MCPH1 Microcephaly, primary autosomal recessive, 2; 251200; MCPH2 Microcephaly, primary autosomal recessive, 3; 604804; CDK5RAP2 Microcephaly, primary autosomal recessive, 4; 251200; MCPH4 Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern; 608716; ASPM Microcephaly, primary autosomal recessive, 6; 608393; CEMPJ Microcephaly, primary autosomal recessive, 7; 612703; STIL Microcephaly, seizures, and developmental delaty; 613402; PNKP Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma; 193220; BEST1 Microphthalmia, isolated 2; 610093; CHX10 Microphthalmia, isolated 3; 611038; RAX Microphthalmia, isolated 4; 613094; GDF6 Microphthalmia, isolated 5; 611040; MFRP Microphthalmia, isolated, with cataract 2; 212550; SIX6 Microphthalmia, isolated, with cataract 4; 610426; CRYBA4 Microphthalmia, isolated, with coloboma 3; 610092; CHX10 Microphthalmia, isolated, with coloboma 5; 611638; SHH Microphthalmia, syndromic 2; 300166; BCOR Microphthalmia, syndromic 3; 206900; SOX2 Microphthalmia, syndromic 5; 610125; OTX2 Microphthalmia, syndromic 6; 607932; BMP4 Microphthalmia, syndromic 7; 309801; HCCS Microphthalmia, syndromic 9; 601186; STRA6 Microtia, hearing impairment, and cleft palate; 612290; HOXA2 Microvillus inclusion disease; 251850; MYO5B Migraine, familial basilar; 602481; ATP1A2 Migraine, familial hemiplegic, 2; 602481; ATP1A2 Migraine, familial hemiplegic, 3; 609634; SCN1A Migraine, resistance to; 157300; EDNRA Miller syndrome; 264750; DHODH Minicore myopathy with external ophthalmoplegia; 255320; RYR1 Mirror movements, congenital; 157600; DCC Mirror-image polydactyly; 135750; MIPOL1 Mismatch repair cancer syndrome; 276300; MLH1 Mismatch repair cancer syndrome; 276300; MSH2 Mismatch repair cancer syndrome; 276300; MSH6 Mismatch repair cancer syndrome; 276300; PMS2 Mitochondrial complex 1 deficiency; 252010; C20orf7 Mitochondrial complex I deficiency; 252010; NDUFA1 Mitochondrial complex I deficiency; 252010; NDUFA11 Mitochondrial complex I deficiency; 252010; NDUFAF2 Mitochondrial complex I deficiency; 252010; NDUFAF3 Mitochondrial complex I deficiency; 252010; NDUFAF4 Mitochondrial complex I deficiency; 252010; NDUFS1 Mitochondrial complex I deficiency; 252010; NDUFS2 Mitochondrial complex I deficiency; 252010; NDUFS4 Mitochondrial complex I deficiency; 252010; NDUFV1 Mitochondrial complex I deficiency; 252010; NDUFV2 Mitochondrial complex II deficiency; 252011; SDHAF1 Mitochondrial complex III deficiency; 124000; BCS1L Mitochondrial complex III deficiency; 124000; UQCRB Mitochondrial complex III deficiency; 124000; UQCRQ Mitochondrial complex IV deficiency; 220110; FASTKD2 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria; 612073; SUCLA2 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; 612075; RRM2B Mitochondrial DNA depletion syndrome, hepatocerebral form; 251880; C10orf2 Mitochondrial DNA depletion syndrome, hepatocerebral form; 251880; MPV17 Mitochondrial DNA depletion syndrome, myopathic form; 609560; TK2 Mitochondrial DNA-depletion syndrome, hepatocerebral form; 251880; DGUOK Mitochondrial myopathy and sideroblastic anemia; 600462; PUS1 Mitochondrial neurogastrointestinal encephalomyopathy syndrome; 603041; TYMP Mitochondrial respiratory chain complex II deficiency; 252011; SDHA Miyoshi muscular dystrophy 3; 613319; ANO5 Miyoshi myopathy; 254130; DYSF MNGIE without leukoencephalopathy; 603041; POLG MODY, type I; 125850; HNF4A MODY, type II; 125851; GCK MODY, type III; 600496; HNF1A MODY, type IV; 606392; IPF1 Mohr-Tranebjaerg syndrome; 304700; TIMM8A Molybdenum cofactor deficiency, type A; 252150; MOCS1 Molybdenum cofactor deficiency, type B; 252150; MOCS2 Molybdenum cofactor deficiency, type C; 252150; GPHN Monilethrix; 158000; KRT81 Monilethrix; 158000; KRT83 Monilethrix; 158000; KRT86 Mononeuropathy of the median nerve, mild; 613353; SH3TC2 Morning glory disc anomaly; 120430; PAX6 Morquio syndrome B; 253010; GLB1 Mosaic variegated aneuploidy syndrome; 257300; BUB1B Mowat-Wilson syndrome; 235730; ZEB2 Muckle-Wells syndrome; 191900; NLRP3 Mucolipidosis II alpha/beta; 252500; GNPTAB Mucolipidosis III alpha/beta; 252600; GNPTAB Mucolipidosis III gamma; 252605; GNPTAG Mucolipidosis IV; 252650; MCOLN1 Mucopolysaccharidosis Ih; 607014; IDUA Mucopolysaccharidosis Ih/s; 607015; IDUA Mucopolysaccharidosis Is; 607016; IDUA Mucopolysaccharidosis IVA; 253000; GALNS Mucopolysaccharidosis type IIID; 252940; GNS Mucopolysaccharidosis type IX; 601492; HYAL1 Mucopolysaccharidosis VII; 253220; GUSB Muenke syndrome; 602849; FGFR3 Muir-Torre syndrome; 158320; MLH1 Muir-Torre syndrome; 158320; MSH2 Mulibrey nanism; 253250; TRIM37 Mullerian aplasia and hyperandrogenism; 158330; WNT4 Multiple cutaneous and uterine leiomyomata; 150800; FH Multiple endocrine neoplasia IIA; 171400; RET Multiple endocrine neoplasia IIB; 162300; RET Multiple endocrine neoplasia, type IV; 610755; CDKN1B Multiple pterygium syndrome, lethal type; 253290; CHRNA1 Multiple pterygium syndrome, lethal type; 253290; CHRND Multiple pterygium syndrome, lethal type; 253290; CHRNG Multiple sulfatase deficiency; 272200; SUMF1 Multiple synostoses syndrome 3; 612961; FGF9 Muscle glycogenosis; 300559; PHKA1 Muscular dystrophy with epidermolysis bullosa simplex; 226670; PLEC1 Muscular dystrophy, congenital merosin-deficient; 607855; LAMA2 Muscular dystrophy, congenital, due to ITGA7 deficiency; 613204; ITGA7 Muscular dystrophy, congenital, due to partial LAMA2 deficiency; 607855; LAMA2 Muscular dystrophy, limb-girdle, type 1A; 159000; TTID Muscular dystrophy, limb-girdle, type 1B; 159001; LMNA Muscular dystrophy, limb-girdle, type 2A; 253600; CAPN3 Muscular dystrophy, limb-girdle, type 2B; 253601; DYSF Muscular dystrophy, limb-girdle, type 2C; 253700; SGCG Muscular dystrophy, limb-girdle, type 2D; 608099; SGCA Muscular dystrophy, limb-girdle, type 2E; 604286; SGCB Muscular dystrophy, limb-girdle, type 2F; 601287; SGCD Muscular dystrophy, limb-girdle, type 2G; 601954; TCAP Muscular dystrophy, limb-girdle, type 2H; 254110; TRIM32 Muscular dystrophy, limb-girdle, type 2J; 608807; TTN Muscular dystrophy, limb-girdle, type 2L; 611307; ANO5 Muscular dystrophy, limb-girdle, type IC; 607801; CAV3 Muscular dystrophy, rigid spine, 1; 602771; SEPN1 Myasthenia, limb-girdle, familial; 254300; AGRN Myasthenia, limb-girdle, familial; 254300; DOK7 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; CHRNB1 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; CHRNE Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; MUSK Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; RAPSN Myasthenic syndrome, congenital, associated with episodic apnea; 254210; CHAT Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency; 608931; RAPSN Myasthenic syndrome, fast-channel congenital; 608930; CHRNA1 Myasthenic syndrome, fast-channel congenital; 608930; CHRND Myasthenic syndrome, fast-channel congenital; 608930; CHRNE Myasthenic syndrome, slow-channel congenital; 601462; CHRNA1 Myasthenic syndrome, slow-channel congenital; 601462; CHRNB1 Myasthenic syndrome, slow-channel congenital; 601462; CHRND Myasthenic syndrome, slow-channel congenital; 601462; CHRNE Mycobacterial infection, atypical, familial disseminated; 209950; IFNGR1 Mycobacterial infection, atypical, familial disseminated; 209950; STAT1 Myelofibrosis, idiopathic; 254450; JAK2 Myeloperoxidase deficiency; 254600; MPO Myeloproliferative disorder with eosinophilia; 131440; PDGFRB Myoclonic epilepsy, severe, of infancy; 607208; GABRG2 Myoglobinuria, acute recurrent, autosomal recessive; 268200; LPIN1 Myokymia with neonatal epilepsy; 606437; KCNQ2 Myopathy due to CPT II deficiency; 255110; CPT2 Myopathy with lactic acidosis, hereditary; 255125; ISCU Myopathy, actin, congenital, with excess of thin myofilaments; 161800; ACTA1 Myopathy, cardioskeletal, desmin-related, with cataract; 608810; CRYAB Myopathy, centronuclear; 160150; DNM2 Myopathy, centronuclear; 160150; MYF6 Myopathy, centronuclear, autosomal recessive; 255200; BIN1 Myopathy, congenital, Compton-North; 612540; CNTN1 Myopathy, congenital, with fiber-type disproportion 1; 255310; ACTA1 Myopathy, desmin-related, cardioskeletal; 601419; DES Myopathy, distal 2; 606070; MATR3 Myopathy, distal, with anterior tibial onset; 606768; DYSF Myopathy, early-onset, with fatal cardiomyopathy; 611705; TTN Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; 613076; GFER Myopathy, myofibrillar, BAG3-related; 612954; BAG3 Myopathy, myofibrillar, filamin C-related; 609524; FLNC Myopathy, myofibrillar, ZASP-related; 609452; LDB3 Myopathy, myosin storage; 608358; MYH7 Myopathy, nemaline, 3; 161800; ACTA1 Myopathy, proximal, with early respiratory muscle involvement; 603689; TTN Myopathy, reducing body, X-linked, childhood-onset; 300718; FHL1 Myopathy, reducing body, X-linked, severe early-onset; 300717; FHL1 Myopathy, spheroid body; 182920; TTID Myopathy, X-linked, with postural muscle atrophy; 300696; FHL1 Myosclerosis, congenital; 255600; COL6A2 Myotilinopathy; 609200; TTID Myotonia congenita, atypical, acetazolamide-responsive; 608390; SCN4A Myotonia congenita, dominant; 160800; CLCN1 Myotonia congenita, recessive; 255700; CLCN1 Myotonic dystrophy; 160900; DMPK Myotonic dystrophy, type 2; 602668; ZNF9 Myotubular myopathy, X-linked; 310400; MTM1 Myxoid liposarcoma; 613488; DDIT3 Myxoma, intracardiac; 255960; PRKAR1A N syndrome; 310465; POLA N-acetylglutamate synthase deficiency; 237310; NAGS Naegeli-Franceschetti-Jadassohn syndrome; 161000; KRT14 Nail-patella syndrome; 161200; LMX1B Nance-Horan syndrome; 302350; NHS Narcolepsy 1; 161400; HCRT Nasopharyngeal carcinoma; 607107; TP53 Nasu-Hakola disease; 221770; TREM2 Nasu-Hakola disease; 221770; TYROBP Naxos disease; 601214; JUP Nemaline myopathy 1, autosomal dominant; 609284; TPM3 Nemaline myopathy 2, autosomal recessive; 256030; NEB Nemaline myopathy 7; 610687; CFL2 Nemaline myopathy; 609285; TPM2 Nemaline Myopathy, Amish Type; 605355; TNNT1 Nephrogenic syndrome of inappropriate antidiuresis; 300539; AVPR2 Nephrolithiasis, type I; 310468; CLCN5 Nephrolithiasis/osteoporosis, hypophosphatemic, 1; 612286; SLC34A1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2; 612287; SLC9A3R1 Nephronophthisis 1, juvenile; 256100; NPHP1 Nephronophthisis 2, infantile; 602088; INVS Nephronophthisis 3; 604387; NPHP3 Nephronophthisis 4; 606966; NPHP4 Nephronophthisis 7; 611498; GLIS2 Nephropathy with pretibial epidermolysis bullosa and deafness; 609057; CD151 Nephrosis, congenital, with or without ocular abnormalities; 609049; LAMB2 Nephrotic syndrome, type 1; 256300; NPHS1 Nephrotic syndrome, type 2; 600995; PDCN Nephrotic syndrome, type 3; 610725; PLCE1 Nephrotic syndrome, type 4; 256370; WT1 Netherton syndrome; 256500; SPINK5 Neural tube defects; 182940; VANGL1 Neuroblastoma; 256700; NME1 Neurodegeneration due to cerebral folate transport deficiency; 613068; FOLR1 Neurodegeneration with brain iron accumulation 1; 234200; PANK2 Neurodegeneration with brain iron accumulation 2B; 610217; PLA2G6 Neurodegeneration with brain iron accumulation 3; 606159; FTL Neuroepithelioma; 612219; EWSR1 Neurofibromatosis, familial spinal; 162210; NF1 Neurofibromatosis type 1; 162200; NF1 Neurofibromatosis type 2; 101000; NF2 Neurofibromatosis-Noonan syndrome; 601321; NF1 Neuromuscular disease, congenital, with uniform type 1 fiber; 117000; RYR1 Neuronopathy, distal hereditary motor, type IIC; 613376; HSPB3 Neuronopathy, distal hereditary motor, type VI; 604320; IGHMBP2 Neuropathy, congenital hypomyelinating, 1; 605253; EGR2 Neuropathy, congenital hypomyelinating; 605253; MPZ Neuropathy, distal hereditary motor, type IIA; 158590; HSPB8 Neuropathy, distal hereditary motor, type IIB; 608634; HSPB1 Neuropathy, distal hereditary motor, type V; 600794; BSCL2 Neuropathy, distal hereditary motor, type V; 600794; GARS Neuropathy, distal hereditary motor, type VIIB; 607641; DCTN1 Neuropathy, hereditary sensory and autonomic, type 1; 162400; SPTLC1 Neuropathy, hereditary sensory and autonomic, type II; 201300; WNK1 Neuropathy, hereditary sensory and autonomic, type IIB; 613115; FAM134B Neuropathy, hereditary sensory and autonomic, type V; 608654; NGFB Neuropathy, hereditary sensory, with spastic paraplegia; 256840; CCT5 Neuropathy, hereditary sensory/autonomic, type IC; 613640; SPTLC2 Neuropathy, recurrent, with pressure palsies; 162500; PMP22 Neutral lipid storage disease with myopathy; 610717; PNPLA2 Neutropenia, nonimmune chronic idiopathic, of adults; 607847; GFI1 Neutropenia, severe congenital, autosomal dominant 1; 202700; ELANE Neutropenia, severe congenital, autosomal dominant 2; 613107; GFI1 Neutropenia, severe congenital, autosomal recessive 3; 610738; HAX1 Neutropenia, severe congenital, autosomal recessive 4; 612541; G6PC3 Neutropenia, severe congenital, X-linked; 300299; WAS Neutrophil immunodeficiency syndrome; 608203; RAC2 Neutrophilia, hereditary; 162830; CSF3R Nevo syndrome; 601451; PLOD Nevus, epidermal; 162900; PIK3CA Nevus, epidermal, epidermolytic hyperkeratotic type; 600648; KRT10 Nevus, keratinocytic, nonepidermolytic; 162900; FGFR3 Newfoundland rod-cone dystrophy; 607476; RLBP1 Niemann-Pick disease, type A; 257200; SMPD1 Niemann-Pick disease, type B; 607616; SMPD1 Niemann-Pick disease, type C1; 257220; NPC1 Niemann-pick disease, type C2; 607625; NPC2 Niemann-Pick disease type D; 257220; NPC1 Night blindness, congenital stationary, autosomal dominant 2; 163500; PDE6B Night blindness, congenital stationary, autosomal dominant 3; 610444; GNAT1 Night blindness, congenital stationary, type 1; 310500; CSNB1 Night blindness, congenital stationary, type 1B; 257270; GRM6 Night blindness, congenital stationary, type 2B; 610427; CABP4 Night blindness, congenital stationary, type IC; 613216; TRPM1 Night blindness, congenital stationary, X-linked, type 2A; 300071; CACNA1F Night blindness, congenital stationery, autosomal dominant 1; 610445; RHO Nijmegen breakage syndrome; 251260; NBS1 Nijmegen breakage syndrome-like disorder; 613078; RAD50 Nonaka Myopathy; 605820; GNE Non-Hodgkin lymphoma, somatic; 605027; CASP10 Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in; 211980; EGFR Nonsmall cell lung cancer, somatic; 211980; IRF1 Nonsmall cell lung cancer, somatic; 211980; PIK3CA Noonan syndrome 1; 163950; PTPN11 Noonan syndrome 3; 609942; KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with loose anagen hair; 607721; SHOC2 Norrie disease; 310600; NDP Norum disease; 245900; LCAT Nystagmus 1, congenital, X-linked; 310700; FRMD7 Nystagmus 6, congenital, X-linked; 300814; GPR143 Obesity with impaired prohormone processing; 600955; PCSK1 Obesity, adrenal insufficiency, and red hair due to POMC deficiency; 609734; POMC Obesity, autosomal dominant; 601665; MC4R Obesity, mild, early-onset; 601665; NR0B2 Obesity, severe; 601665; PPARG Obesity, severe; 601665; SIM1 Occipital horn syndrome; 304150; ATP7A Ocular albinism, type I, Nettleship-Falls type; 300500; GPR143 Oculoauricular syndrome; 612109; HMX1 Oculocutaneous albinism, type IV; 606574; SLC45A2 Oculodentodigital dysplasia; 164200; GJA1 Oculodentodigital dysplasia, autosomal recessive; 257850; GJA1 Oculopharyngeal muscular dystrophy; 164300; PABPN1 Odontohypophosphatasia; 146300; ALPL Odontoonychodermal dysplasia; 257980; WNT10A Ogden Syndrome; 300855; NAA10 Oguchi disease-1; 258100; SAG Oguchi disease-2; 613411; GRK1 OI type II; 166210; COL1A1 OI type III; 259420; COL1A1 OI type IV; 166220; COL1A1 Oligodontia-colorectal cancer syndrome; 608615; AXIN2 Omenn syndrome; 603554; DCLRE1C Omenn syndrome; 603554; RAG1 Omenn syndrome; 603554; RAG2 Omodysplasia 1; 258315; GPC6 Opitz G syndrome, type I; 300000; MID1 Opitz-Kaveggia syndrome; 305450; MED12 Opremazole poor metabolizer; 609535; CYP2C Optic atrophy 1; 165500; OPA1 Optic atrophy and cataract; 165300; OPA3 Optic atrophy and deafness; 125250; OPA1 Optic atrophy-7; 612989; TMEM126A Optic nerve coloboma with renal disease; 120330; PAX2 Optic nerve hypoplasia and abnormalities of the central nervous system; 206900; SOX2 Optic nerve hypoplasia; 165550; PAX6 Oral-facial-digital syndrome 1; 311200; OFD1 Ornithine transcarbamylase deficiency; 311250; OTC Orofacial cleft 11; 600625; BMP4 Orofacial cleft 5; 608874; MSX1 Orofacial cleft 6; 608864; IRF6 Orofacial cleft 7; 225060; HVEC Orofacial cleft 8; 129400; TP63 Orthostatic intolerance; 604715; SLC6A2 Osseous heteroplasia, progressive; 166350; GNAS Ossification of posterior longitudinal ligament of spine; 602475; ENPP1 Osteoarthritis with mild chondrodysplasia; 604864; COL2A1 Osteochondritis dissecans, short stature, and early-onset osteoarthritis; 165800; ACAN Osteogenesis imperfecta, type I; 166200; COL1A1 Osteogenesis imperfecta, type II; 166210; COL1A2 Osteogenesis imperfecta, type IIB; 610854; CRTAP Osteogenesis imperfecta, type III; 259420; COL1A2 Osteogenesis imperfecta, type IV; 166220; COL1A2 Osteogenesis imperfecta, type IX; 259440; PPIB Osteogenesis imperfecta, type VI; 610698; FKBP10 Osteogenesis imperfecta, type VII; 610682; CRTAP Osteogenesis imperfecta, type VIII; 610915; LEPRE1 Osteoglophonic dysplasia; 166250; FGFR1 Osteolysis, familial expansile; 174810; TNFRSF11A Osteopathia striata with cranial sclerosis; 300373; FAM123B Osteopetrosis, AD type I; 607634; LRP5 Osteopetrosis, autosomal dominant 2; 166600; CLCN7 Osteopetrosis, autosomal recessive 2; 259710; TNFSF11 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis; 259730; CA2 Osteopetrosis, autosomal recessive 4; 611490; CLCN7 Osteopetrosis, autosomal recessive 5; 259720; OSTM1 Osteopetrosis, autosomal recessive 6; 611497; PLEKHM1 Osteopetrosis, autosomal recessive 7; 612301; TNFRSF11A Osteopetrosis, recessive 1; 259700; TCIRG1 Osteopoikilosis; 166700; LEMD3 Osteoporosis, involutional; 166710; VDR Osteoporosis-pseudoglioma syndrome; 259770; LRP5 Osteosarcoma; 259500; LOH18CR1 Osteosarcoma; 259500; RB1 Osteosarcoma; 259500; TP53 Osteosarcoma, somatic; 259500; CHEK2 Osteosclerosis; 144750; LRP5 Otofaciocervical syndrome; 166780; EYA1 Otopalatodigital syndrome, type I; 311300; FLNA Otopalatodigital syndrome, type II; 304120; FLNA Otospondylomegaepiphyseal dysplasia; 215150; COL11A2 Ovarian cancer; 167000; CTNNB1 Ovarian cancer, somatic; 604370; AKT1 Ovarian cancer, somatic; 604370; PIK3CA Ovarian dysgenesis 1; 233300; FSHR Ovarian dysgenesis 2; 300510; BMP15 Ovarian hyperstimulation syndrome; 608115; FSHR Ovarian response to FSH stimulation; 276400; FSHR Ovarioleukodystrophy; 603896; EIF2B2 Ovarioleukodystrophy; 603896; EIF2B4 Ovarioleukodystrophy; 603896; EIF2B5 Pachyonychia congenita Jackson Lawler type; 167210; KRT17 Pachyonychia congenita Jackson Lawler type; 167210; KRT6B Pachyonychia congenita, Jadassohn-Lewandowsky type; 167200; KRT16 Pachyonychia congenita, Jadassohn-Lewandowsky type; 167200; KRT6A Paget disease of bone; 602080; PDB4 Paget disease of bone; 602080; SQSTM1 Paget disease of bone; 602080; TNFRSF11A Paget disease, juvenile; 239000; TNFRSF11B Pallister-Hall syndrome; 146510; GLI3 Palmoplantar hyperkeratosis and true hermaphroditism; 610644; RSPO1 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; 610644; RSPO1 Palmoplantar keratoderma, nonepidermolytic; 600962; KRT16 Palmoplantar keratoderma, nonepidermolytic, focal; 613000; KRT16 Palmoplantar verrucous nevus, unilateral; 144200; KRT16 Pancreatic agenesis; 260370; IPF1 Pancreatic cancer; 260350; TP53 Pancreatic cancer; 613347; BRCA2 Pancreatic cancer/melanoma syndrome; 606719; CDKN2A Pancreatic carcinoma, somatic; 260350; KRAS Pancreatitis, hereditary; 167800; PRSS1 Pancreatitis, hereditary; 167800; SPINK1 Panhypopituitarism, X-linked; 312000; SOX3 Papillon-Lefevre syndrome; 245000; CTSC Paraganglioma and gastric stromal sarcoma; 606864; SDHB Paraganglioma and gastric stromal sarcoma; 606864; SDHC Paraganglioma and gastric stromal sarcoma; 606864; SDHD Paraganglioma, familial chromaffin, 4; 115310; SDHB Paragangliomas 2; 601650; SDHAF2 Paragangliomas, familial nonchromaffin, 1, with or without deafness; 168000; SDHD Paragangliomas, familial nonchromaffin, 3; 605373; SDHC Paramyotonia congenita; 168300; SCN4A Parathyroid adenoma with cystic changes; 145001; HRPT2 Parathyroid carcinoma; 608266; HRPT2 Parietal foramina 1; 168500; MSX2 Parietal foramina 2; 609597; ALX4 Parietal foramina with cleidocranial dysplasia; 168550; MSX2 Parkes Weber slndrome; 608355; RASA1 Parkinson disease 11; 607688; GIGYF2 Parkinson disease 13; 610297; HTRA2 Parkinson disease 15, autosomal recessive; 260300; FBXO7 Parkinson disease 4; 605543; SNCA Parkinson disease 6, early onset; 605909; PINK1 Parkinson disease 7, autosomal recessive early-onset; 606324; DJ1 Parkinson disease 9; 606693; ATP13A2 Parkinson disease, juvenile, type 2; 600116; PRKN Parkinson disease-8; 607060; LRRK2 Parkinsonism-dystonia, infantile; 613135; SLC6A3 Paroxysmal extreme pain disorder; 167400; SCN9A Paroxysmal nocturnal hemoglobinuria, somatic; 300818; PIGA Paroxysmal nonkinesigenic dyskinesia; 118800; MR1 Partington syndrome; 309510; ARX PCWH syndrome; 609136; SOX10 Peeling skin syndrome, acral type; 609796; TGM5 Pelger-Huet anomaly; 169400; LBR Pelizaeus-Merzbacher disease; 312080; PLP1 Pendred syndrome; 274600; SLC26A4 Pentosuria; 260800; DCXR Periodic fever, familial; 142680; TNFRSF1A Periodontitis, juvenile; 170650; CTSC Periventricular heterotopia with microcephaly; 608097; ARFGEF2 Peroxisomal acyl-CoA oxidase deficiency; 264470; ACOX1 Perry syndrome; 168605; DCTN1 Persistent Mullerian duct syndrome, type I; 261550; AMH Persistent Mullerian duct syndrome, type II; 261550; AMHR2 Persistent truncus arteriosus; 217095; NKX2-6 Peters anomaly; 604229; CYP1B1 Peters anomaly; 604229; PAX6 Peters anomaly; 604229; PITX2 Peters-plus syndrome; 261540; B3GALTL; B3GTL Peutz-Jeghers syndrome; 175200; STK11 Pfeiffer syndrome; 101600; FGFR1 Pfeiffer syndrome; 101600; FGFR2 Phenylketonuria; 261600; PAH Pheochromocytoma; 171300; KIF1B Pheochromocytoma; 171300; RET Pheochromocytoma; 171300; SDHB Pheochromocytoma; 171300; SDHD Pheochromocytoma; 171300; VHL Phosphoglycerate dehydrogenase deficiency; 601815; PHGDH Phosphoglycerate kinase 1 deficiency; 300653; PGK1 Phosphoribosylpyrophosphate synthetase superactivity; 300661; PRPS1 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive; 261750; PHKB Phosphoserine aminotransferase deficiency; 610992; PSAT1 Pick disease; 172700; MAPT Pick disease; 172700; PSEN1 Piebaldism; 172800; SNAI2 Pierson syndrome; 609049; LAMB2 Pigmented adrenocortical disease, primary, 1; 610489; PRKAR1A Pigmented nodular adrenocortical disease, primary, 2; 610475; PDE11A Pigmented paravenous chorioretinal atrophy; 172870; CRB1 Pilomatricoma; 132600; CTNNB1 Pitt-Hopkins like syndrome 1; 610042; CNTNAP2 Pitt-Hopkins syndrome; 610954; TCF4 Pituitary adenoma, ACTH-secreting; 219090; AIP Pituitary adenoma, growth hormone-secreting; 102200; AIP Pituitary adenoma, prolactin-secreting; 600634; AIP Pituitary hormone deficiency, combined, 1; 613038; POU1F1 Pituitary hormone deficiency, combined, 2; 262600; PROP1 Pituitary hormone deficiency, combined, 3; 221750; LHX3 Pituitary hormone deficiency, combined, 4; 262700; LHX4 Pituitary hormone deficiency, combined, 5; 182230; HESX1 Plamoplantar keratoderma, epidermolytic; 144200; KRT1 Plasminogen activator inhibitor, type I; 613329; PAI1 Platelet disorder, familial, with associated myeloid malignancy; 601399; RUNX1 Platelet glycoprotein IV deficiency; 608404; CD36 Pleuropulmonary blastoma; 601200; DICER1 Pneumothorax, primary spontaneous; 173600; FLCN Poikiloderma with neutropenia; 604173; C16orf57 Polycystic kidney and hepatic disease; 263200; FCYT Polycystic kidney disease 2; 613095; PKD2 Polycystic kidney disease, adult type I; 173900; PKD1 Polycystic liver disease; 174050; PRKCSH Polycystic liver disease; 174050; SEC63 Polycystic ovary syndrome; 184700; FST Polycythemia vera; 263300; JAK2 Polycythemia, benign familial; 263400; VHL Polydactyly, postaxial, types A1 and B; 174200; GLI3 Polydactyly, preaxial type II; 174500; LMBR1 Polydactyly, preaxial, type IV; 174700; GLI3 Polyhydramnios, megalencephaly, and symptomatic epilepsy; 611087; STRADA Polymicrogyria with optic nerve hypoplasia; 613180; TUBA8 Polymicrogyria, asymmetric; 610031; TUBB2B Polymicrogyria, bilateral frontoparietal; 606854; GPR56 Polyposis syndrome, hereditary mixed, 2; 610069; BMPR1A Polyposis, juvenile intestinal; 174900; BMPR1A Polyposis, juvenile intestinal; 174900; MADH4 Pontocerebellar hypoplasia type 1; 607596; VRK1 Pontocerebellar hypoplasia type 2A; 277470; TSEN54 Pontocerebellar hypoplasia type 2B; 612389; TSEN2 Pontocerebellar hypoplasia type 2C; 612390; TSEN34 Pontocerebellar hypoplasia type 4; 225753; TSEN54 Pontocerebellar hypoplasia, type 6; 611523; RARS2 Popliteal pterygium syndrome; 119500; IRF6 POR deficiency; 201750; POR Porencephaly; 175780; COL4A1 Porokeratosis, disseminated superficial actinic, 1; 175900; SART3 Porphyria cutanea tarda; 176100; UROD Porphyria variegata; 176200; PPOX Porphyria, acute hepatic; 612740; ALAD Porphyria, acute intermittent; 176000; HMBS Porphyria, acute intermittent, nonerythroid variant; 176000; HMBS Porphyria, congenital erythropoietic; 263700; UROS Porphyria, hepatoerythropoietic; 176100; UROD Prader-Willi syndrome; 176270; NDN Prader-Willi syndrome; 176270; SNRPN Precocious puberty, central; 176400; KISS1R Precocious puberty, male; 176410; LHCGR Premature chromosome condensation with microcephaly and mental retardation; 606858; MCPH1 Premature ovarian failure 2B; 300604; FLJ22792 Premature ovarian failure 3; 608996; FOXL2 Premature ovarian failure 4; 300510; BMP15 Premature ovarian failure 5; 611548; NOBOX Premature ovarian failure 6; 612310; FIGLA Premature ovarian failure 7; 612964; NR5A1 Premature ovarian failure; 300511; DIAPH2 Primary lateral sclerosis, juvenile; 606353; ALS2 Prion disease with protracted course; 606688; PRNP Progesterone resistance; 264080; PGR Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; 609283; SLC25A4 Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; 609286; C10orf2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; 610131; POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5; 613077; RRM2B Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadism; 157640; POLG Progressive external ophthalmoplegia, autosomal recessive; 258450; POLG Progressive familial heart block, type IB; 604559; TRPM4 Proguanil poor metabolizer; 609535; CYP2C Prolidase deficiency; 170100; PEPD Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome; 225790; FLVCR2 Properdin deficiency, X-linked; 312060; PFC Propionicacidemia; 606054; PCCA Propionicacidemia; 606054; PCCB Prostate cancer 1, 176807; 601518; RNASEL Prostate cancer; 176807; BRCA2 Prostate cancer, hereditary; 176807; MSR1 Prostate cancer, progression and metastasis of; 603688; EPHB2 Prostate cancer, somatic; 176807; KLF6 Prostate cancer, somatic; 176807; MAD1L1 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; 308990; CLCN5 Protoporphyria, erythropoietic, autosomal dominant; 177000; FECH Protoporphyria, erythropoietic, autosomal recessive; 177000; FECH Protoporphyria, erythropoietic, X-linked dominant; 300752; ALAS2 Proud syndrome; 300004; ARX Pseudoachondroplasia; 177170; COMP Pseudohermaphroditism, male, with gynecomastia; 264300; HSD17B3 Pseudohyperkalemia, familial; 177720; PIEZO1 Pseudohypoaldosteronism type I, autosomal dominant; 177735; NR3C2 Pseudohypoaldosteronism type II; 145260; WNK4 Pseudohypoaldosteronism, type I; 264350; SCNN1A Pseudohypoaldosteronism, type I; 264350; SCNN1B Pseudohypoaldosteronism, type I; 264350; SCNN1G Pseudohypoaldosteronism, type IIC; 145260; WNK1 Pseudohypoparathyroidism Ia; 103580; GNAS Pseudohypoparathyroidism Ib; 603233; GNAS Pseudohypoparathyroidism Ic; 612462; GNAS Pseudohypoparathyroidism, type IB; 603233; GNASAS Pseudohypoparathyroidism, type IB; 603233; STX16 Pseudovaginal perineoscrotal hypospadias; 264600; SRD5A2 Pseudoxanthoma elasticum; 264800; ABCC6 Pseudoxanthoma elasticum, forme fruste; 177850; ABCC6 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; 610842; GGCX Ptosis, congenital; 178300; ZFHX4 Pulmonary alveolar microlithiasis; 265100; SLC34A2 Pulmonary alveolar proteinosis; 300770; CSF2RA Pulmonary fibrosis, idiopathic; 178500; SFTPA2 Pulmonary hypertension, familial primary; 178600; BMPR2 Pulmonary hypertension, primary; 178600; MADH9 Pulmonary hypertension, primary, fenfluramine-associated; 178600; BMPR2 Pulmonary veno occlusive disease; 265450; BMPR2 Pycnodysostosis; 265800; CTSK Pyogenic bacterial infections, recurrent, due to MYD88 deficiency; 612260; MYD88 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne; 604416; PSTPIP1 Pyridoxamine 5'-phosphate oxidase deficiency; 610090; PNPO Pyropoikilocytosis; 266140; SPTA1 Pyruvate carboxylase deficiency; 266150; PC Pyruvate dehydrogenase deficiency; 312170; PDHA1 Pyruvate dehydrogenase E2 deficiency; 245348; DLAT Pyruvate dehydrogenase phosphatase deficiency; 608782; PDP1 Pyruvate kinase deficiency; 266200; PKLR Rabson-Mendenhall syndrome; 262190; INSR Radioulnar synostosis with amegakaryocytic thrombocytopenia; 605432; HOXA11 Raine syndrome; 259775; FAM20C RAPADILINO syndrome; 266280; RECQL4 Rapp-Hodgkin syndrome; 129400; TP63 Recombination rate QTL 1; 612042; RNF212 Refsum disease; 266500; PEX7 Refsum disease; 266500; PHYH Refsum disease, infantile form; 266510; PEX26 Refsum disease, infantile form; 266510; PXMP3 Refsum disease, infantile; 266510; PEX1 Renal adysplasia; 191830; UPK3A Renal agenesis; 191830; RET Renal carcinoma, chromophobe, somatic; 144700; FLCN Renal cell carcinoma; 144700; DIRC2 Renal cell carcinoma; 144700; HNF1A Renal cell carcinoma; 144700; RNF139 Renal cell carcinoma, clear cell, somatic; 144700; OGG1 Renal cell carcinoma, papillary, 1; 605074; PRCC Renal cell carcinoma, papillary, 1; 605074; TFE3 Renal cell carcinoma, papillary, familial and sporadic; 605074; MET Renal cell carcinoma, somatic; 144700; VHL Renal cysts and diabetes syndrome; 137920; HNF1B Renal glucosuria; 233100; SLC5A2 Renal tubular acidosis with deafness; 267300; ATP6B1 Renal tubular acidosis, distal, AD; 179800; SLC4A1 Renal tubular acidosis, distal, AR; 611590; SLC4A1 Renal tubular acidosis, distal, autosomal recessive; 602722; ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities; 604278; SLC4A4 Renal tubular dysgenesis; 267430; ACE Renal tubular dysgenesis; 267430; AGT Renal tubular dysgenesis; 267430; AGTR1 Renal tubular dysgenesis; 267430; REN Renal-hepatic-pancreatic dysplasia; 208540; NPHP3 Renpenning syndrome; 309500; PQBP1 Restrictive dermopathy, lethal; 275210; ZMPSTE24 Reticular dysgenesis; 267500; AK2 Retinal cone dystrophy 3; 610024; PDE6H Retinal cone dystrophy 3B; 610356; KCNV2 Retinal cone dystrophy 4; 610478; CACNA2D4 Retinal degeneration, late-onset, autosomal dominant; 605670; C1QTNF5 Retinal dystrophy, early-onset severe; 248200; ABCA4 Retinal dystrophy, early-onset severe; 613341; LRAT Retinitis pigmentosa 33; 610359; SNRNP200 Retinitis pigmentosa 51; 613464; TTC8 Retinitis pigmentosa 54; 613428; C2orf71 Retinitis pigmentosa 55; 613575; ARL6 Retinitis pigmentosa 58; 613617; ZNF513 Retinitis pigmentosa, concentric; 613194; BEST1 Retinitis pigmentosa, digenic; 608133; PRPH2 Retinitis pigmentosa, juvenile; 613341; LRAT Retinitis pigmentosa, juvenile, autosomal recessive; 268000; SPATA7 Retinitis pigmentosa, late-onset dominant; 268000; CRX Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; 300455; RPGR Retinitis pigmentosa-1; 180100; RP1 Retinitis pigmentosa-10; 180105; IMPDH1 Retinitis pigmentosa-11; 600138; PRPF31 Retinitis pigmentosa-12, autosomal recessive; 600105; CRB1 Retinitis pigmentosa-13; 600059; PRPF8 Retinitis pigmentosa-14; 600132; TULP1 Retinitis pigmentosa-17; 600852; CA4 Retinitis pigmentosa-18; 601414; HPRP3 Retinitis pigmentosa-19; 601718; ABCA4 Retinitis pigmentosa-2; 312600; RP2 Retinitis pigmentosa-25; 602772; EYS Retinitis pigmentosa-26; 608380; CERKL Retinitis pigmentosa-3; 300029; RPGR Retinitis pigmentosa-30; 607921; FSCN2 Retinitis pigmentosa-31; 609923; TOPORS Retinitis pigmentosa-35; 610282; SEMA4A Retinitis pigmentosa-36; 610599; PRCD Retinitis pigmentosa-37; 611131; NR2E3 Retinitis pigmentosa-38; 268000; MERTK Retinitis pigmentosa-39; 268000; USH2A Retinitis pigmentosa-41; 612095; PROM1 Retinitis pigmentosa-42; 612943; KLHL7 Retinitis pigmentosa-45; 268000; CNGB1 Retinitis pigmentosa-50; 613194; BEST1 Retinitis pigmentosa-7; 608133; PRPH2 Retinitis pigmentosa-9; 180104; RP9 Retinitis punctata albescens; 136880; PRPH2 Retinitis punctata albescens; 136880; RLBP1 Retinopathy of prematurity; 133780; FZD4 Rett syndrome; 312750; MECP2 Rett syndrome, congenital variant; 613454; FOXG1B Rett syndrome, preserved speech variant; 312750; MECP2 Revesz syndrome; 268130; TINF2 Reynolds syndrome; 613471; LBR Rhabdoid predisposition syndrome 1; 609322; SMARCB1 Rhabdoid tumor predisposition syndrome 2; 613325; SMARCA4 Rhabdomyosarcoma 2, alveolar; 268220; PAX3 Rhabdomyosarcoma 2, alveolar; 268220; PAX7 Rhabdomyosarcoma; 268210; SLC22A1L Rhabdomyosarcoma, alveolar; 268220; FOXO1A Rhizomelic chondrodysplasia punctata type 1; 215100; PEX7 Rhizomelic chondrodysplasia punctata type 3; 600121; AGPS Ribose-5-phosphate isomerase deficiency; 608611; RPIA Rickets due to defect in vitamin D 25-hydroxylation; 600081; CYP2R1 Rickets, vitamin D-resistant, type IIA; 277440; VDR RIDDLE syndrome; 611943; RNF168 Rieger or Axenfeld anomalies; 602482; FOXC1 Ring dermoid of cornea; 180550; PITX2 Rippling muscle disease; 606072; CAV3 Rippling muscle disease-1; 606072; RMD1 Roberts syndrome; 268300; ESCO2 Robinow syndrome, autosomal recessive; 268310; ROR2 Rolandic epilepsy, mental retardation, and speech dyspraxia; 300643; SRPX2 Rothmund-Thomson syndrome; 268400; RECQL4 Roussy-Levy syndrome; 180800; MPZ Roussy-Levy syndrome; 180800; PMP22 Rubenstein-Taybi syndrome; 180849; CREBBP Rubinstein-Taybi syndrome; 180849; EP300 Saccharopinuria; 268700; AASS Saethre-Chotzen syndrome with eyelid anomalies; 101400; TWIST1 Saethre-Chotzen syndrome; 101400; FGFR2 Saethre-Chotzen syndrome; 101400; TWIST1 Salla disease; 604369; SLC17A5 Sandhoff disease, infantile, juvenile, and adult forms; 268800; HEXB Sanfilippo syndrome, type A; 252900; SGSH Sanfilippo syndrome, type B; 252920; NAGLU Sanfilippo syndrome, type C; 252930; HGSNAT Sarcoidosis, early-onset; 609464; NOD2 SC phocomelia syndrome; 269000; ESCO2 Scapuloperoneal myopathy, X-linked dominant; 300695; FHL1 Scapuloperoneal spinal muscular atrophy; 181405; TRPV4 Scapuloperoneal syndrome, myopathic type; 181430; MYH7 Scapuloperoneal syndrome, neurogenic, Kaeser type; 181400; DES Schimke immunoosseous dysplasia; 242900; SMARCAL1 Schindler disease, type I; 609241; NAGA Schindler disease, type III; 609241; NAGA Schinzel-Giedion midface retraction syndrome; 269150; SETBP1 Schizencephaly; 269160; EMX2 Schizophrenia; 181500; DISC2 Schneckenbecken dysplasia; 269250; SLC35D1 Schöpf–Schulz–Passarge syndrome; 224750; WNT10A Schwannomatosis; 162091; NF2 Schwartz-Jampel syndrome, type 1; 255800; HSPG2 Sclerosteosis; 269500; SOST Sea-blue histiocyte disease; 269600; APOE Sebastian syndrome; 605249; MYH9 Seborrhea-like dermatitis with psoriasiform elements; 610227; ZNF750 Seckel syndrome 1; 210600; ATR SED congenita; 183900; COL2A1 Segawa syndrome, recessive; 605407; TH Self-healing collodion baby; 242300; TGM1 SEMD, Pakistani type; 612847; PAPSS2 Senior-Loken syndrome 4; 606996; NPHP4 Senior-Loken syndrome 5; 609254; IQCB1 Senior-Loken syndrome 6; 610189; CEP290 Senior-Loken syndrome-1; 266900; NPHP1 Sensorineural deafness with mild renal dysfunction; 602522; BSND Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; 607459; POLG Septo-optic dysplasia; 182230; HESX1 SERKAL syndrome; 611812; WNT4 Sertoli-cell-only syndrome; 400042; ZNF148 SESAME syndrome; 612780; KCNJ10 Severe combined immunodeficiency due to ADA deficiency; 102700; ADA Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; 611291; NHEJ1 Severe combined immunodeficiency, Athabascan type; 602450; DCLRE1C Severe combined immunodeficiency, B cell-negative; 601457; RAG1 Severe combined immunodeficiency, B cell-negative; 601457; RAG2 Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; CD3D Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; CD3E Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; PTPRC Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type; 608971; IL7R Severe combined immunodeficiency, X-linked; 300400; IL2RG Short QT syndrome-1; 609620; KCNH2 Short QT syndrome-2; 609621; KCNQ1 Short QT syndrome-3; 609622; KCNJ2 Short rib-polydactyly syndrome, type III; 263510; DYNC2H1 Short stature; 604271; GHSR Short stature, idiopathic familial; 300582; SHOX Short stature, idiopathic familial; 300582; SHOXY Short stature, idiopathic; 604271; GHR Shprintzen-Goldberg syndrome; 182212; FBN1 Shwachman-Bodian-Diamond syndrome; 260400; SBDS Sialic acid storage disorder, infantile; 269920; SLC17A5 Sialidosis, type I; 256550; NEU1 Sialidosis, type II; 256550; NEU1 Sialuria; 269921; GNE Sick sinus syndrome 1; 608567; SCN5A Sick sinus syndrome 2; 163800; HCN4 Sickle cell anemia; 603903; HBB Silver spastic paraplegia syndrome; 270685; BSCL2 Silver-Russell syndrome; 180860; H19 Simpson-Golabi-Behmel syndrome, type 1; 312870; GPC3 Simpson-Golabi-Behmel syndrome, type 2; 300209; OFD1 Sitosterolemia; 210250; ABCG5 Sitosterolemia; 210250; ABCG8 Sjogren-Larsson syndrome; 270200; ALDH3A2 Skeletal defects, genital hypoplasia, and mental retardation; 612447; ZBTB16 Skin fragility-woolly hair syndrome; 607655; DSP Skin/hair/eye pigmentation 9, dark/light hair; 611742; ASIP Slowed nerve conduction velocity, AD; 608236; ARHGEF10 Small patella syndrome; 147891; TBX4 SMED, Strudwick type; 184250; COL2A1 Smith-Lemli-Opitz syndrome; 270400; DHCR7 Smith-Magenis syndrome; 182290; RAI1 Smith-McCort dysplasia; 607326; DYM Snowflake vitreoretinal degeneration; 193230; KCNJ13 Solitary median maxillary central incisor; 147250; SHH Somatostatin analog, resistance to; 102200; SSTR5 Sorsby fundus dystrophy; 136900; TIMP3 Sotos syndrome; 117550; NSD1 Spastic ataxia, Charlevoix-Saguenay type; 270550; SACS Spastic paralysis, infantile onset ascending; 607225; ALS2 Spastic paraplegia 10; 604187; KIF5A Spastic paraplegia 15; 270700; ZFYVE26 Spastic paraplegia 31; 610250; REEP1 Spastic paraplegia 33; 610244; ZFYVE27 Spastic paraplegia 39; 612020; PNPLA6 Spastic paraplegia, 44; 613206; GJC2 Spastic paraplegia-11; 604360; SPG11 Spastic paraplegia-13; 605280; HSPD1 Spastic paraplegia-2; 312920; PLP1 Spastic paraplegia-3A; 182600; SPG3A Spastic paraplegia-4; 182601; SPAST Spastic paraplegia-42; 612539; SLC33A1 Spastic paraplegia-5A; 270800; CYP7B1 Spastic paraplegia-6; 600363; NIPA1 Spastic paraplegia-7; 607259; PGN Spastic paraplegia-8; 603563; KIAA0196 Specific granule deficiency; 245480; CEBPE Speech-language disorder-1; 602081; FOXP2 Spherocytosis, hereditary, type 5; 612690; EPB42 Spherocytosis, type 1; 182900; ANK1 Spherocytosis, type 3; 270970; SPTA1 Spherocytosis, type 4; 612653; SLC4A1 Spinal and bulbar muscular atrophy of Kennedy; 313200; AR Spinal muscular atrophy, distal, autosomal recessive, 4; 611067; PLEKHG5 Spinal muscular atrophy, distal, X-linked 3; 300489; ATP7A Spinal muscular atrophy, late-onset, Finkel type; 182980; VAPB Spinal muscular atrophy, X-linked 2, infantile; 301830; UBE1 Spinal muscular atrophy-1; 253300; SMN1 Spinal muscular atrophy-2; 253550; SMN1 Spinal muscular atrophy-3; 253400; SMN1 Spinal muscular atrophy-4; 271150; SMN1 Spinocerebellar ataxia 12; 604326; PPP2R2B Spinocerebellar ataxia 14; 605361; PRKCG Spinocerebellar ataxia 15; 606658; ITPR1 Spinocerebellar ataxia 17; 607136; TBP Spinocerebellar ataxia 28; 610246; AFG3L2 Spinocerebellar ataxia 31; 117210; BEAN Spinocerebellar ataxia 8; 608768; ATXN8OS Spinocerebellar ataxia 8; 608768; ATXN8 Spinocerebellar ataxia with epilepsy; 607459; POLG Spinocerebellar ataxia, autosomal recessive 5; 606937; ZNF592 Spinocerebellar ataxia, autosomal recessive 8; 610743; SYNE1 Spinocerebellar ataxia, autosomal recessive 9; 612016; CABC1 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy; 607250; TDP1 Spinocerebellar ataxia, infantile-onset; 271245; C10orf2 Spinocerebellar ataxia-1; 164400; ATXN1 Spinocerebellar ataxia-10; 603516; ATXN10 Spinocerebellar ataxia-11; 604432; TTBK2 Spinocerebellar ataxia-13; 605259; KCNC3 Spinocerebellar ataxia-2; 183090; ATXN2 Spinocerebellar ataxia-27; 609307; FGF14 Spinocerebellar ataxia-5; 600224; SPTBN2 Spinocerebellar ataxia-6; 183086; CACNA1A Spinocerebellar ataxia-7; 164500; ATXN7 Split-hand/foot malformation 6; 225300; WNT10B Split-hand/foot malformation, type 4; 605289; TP63 Spondylocarpotarsal synostosis syndrome; 272460; FLNB Spondylocheirodysplasia, Ehlers-Danlos syndrome-like; 612350; SLC39A13 Spondylocostal dysostosis, autosomal recessive 2; 608681; MESP2 Spondylocostal dysostosis, autosomal recessive 3; 609813; LFNG Spondylocostal dysostosis, autosomal recessive, 1; 277300; DLL3 Spondylocostal dystostosis 4, autosomal dominant; 122600; GDF6 Spondyloepimetaphyseal dysplasia; 608728; MATN3 Spondyloepimetaphyseal dysplasia, aggrecan type; 612813; ACAN Spondyloepimetaphyseal dysplasia, Missouri type; 602111; MMP13 Spondyloepiphyseal dysplasia tarda with progressive arthropathy; 208230; WISP3 Spondyloepiphyseal dysplasia tarda; 313400; TRAPPC2 Spondyloepiphyseal dysplasia with congenital joint dislocations; 143095; CHST3 Spondyloepiphyseal dysplasia, Kimberley type; 608361; ACAN Spondylo-megaepiphyseal-metaphyseal dysplasia; 613330; NKX3-2 Spondylometaepiphyseal dysplasia, short limb-hand type; 271665; DDR2 Spondylometaphyseal dysplasia, Kozlowski type; 184252; TRPV4 Spondyloperipheral dysplasia; 271700; COL2A1 Squamous cell carcinoma, head and neck; 275355; ING1 Squamous cell carcinoma, head and neck; 275355; TNFRSF10B Stapes ankylosis with broad thumb and toes; 184460; NOG STAR syndrome; 300707; FAM58A Stargardt disease 3; 600110; ELOVL4 Stargardt disease 4; 603786; PROM1 Stargardt disease-1; 248200; ABCA4 Startle disease/hyperekplexia, autosomal dominant; 149400; GLRA1 Steatocystoma multiplex; 184500; KRT17 Stickler syndrome, type I; 108300; COL2A1 Stickler syndrome, type II; 604841; COL11A1 Stickler syndrome, type III; 184840; COL11A2 Stiff skin syndrome; 184900; FBN1 Stocco dos Santos X-linked mental retardation syndrome; 300434; SHROOM4 Stomach cancer; 137215; KRAS Stomatocytosis I; 185000; EPB72 Striatal degeneration, autosomal dominant; 609161; PDE8B Striatonigral degeneration, infantile; 271930; NUP62 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome; 601559; LIFR Subcortical laminal heteropia, X-linked; 300067; DCX Succinic semialdehyde dehydrogenase deficiency; 271980; ALDH5A1 Succinyl-CoA:3-oxoacid CoA transferase deficiency; 245050; OXCT1 Sucrase-isomaltase deficiency, congenital; 222900; SI Sudden infant death with dysgenesis of the testes syndrome; 608800; TSPYL1 Sulfite oxidase deficiency; 272300; SUOX Supranuclear palsy, progressive atypical; 260540; MAPT Supranuclear palsy, progressive; 601104; MAPT Supravalvar aortic stenosis; 185500; ELN Surfactant metabolism dysfunction, pulmonary, 1; 265120; SFTPB Surfactant metabolism dysfunction, pulmonary, 2; 610913; SFTPC Surfactant metabolism dysfunction, pulmonary, 3; 610921; ABCA3 Sveinsson choreoretinal atrophy; 108985; TEAD1 Symphalangism, proximal; 185800; GDF5 Symphalangism, proximal; 185800; NOG Syndactyly, type III; 186100; GJA1 Syndactyly, type IV; 186200; LMBR1 Syndactyly, type V; 186300; HOXD13 Synostoses syndrome, multiple, 1; 186500; NOG Synpolydactyly with foot anomalies; 186000; HOXD13 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses; 608180; FBLN1 Synpolydactyly, type II; 186000; HOXD13 Tangier disease; 205400; ABCA1 TARP syndrome; 311900; RBM10 Tarsal-carpal coalition syndrome; 186570; NOG Tay-Sachs disease; 272800; HEXA T-cell immunodeficiency, congenital alopecia, and nail dystrophy; 601705; FOXN1 Testicular microlithiasis; 610441; SLC34A2 Testicular tumor, sporadic; 273300; STK11 Tetra-amelia, autosomal recessive; 273395; WNT3 Tetralogy of Fallot; 187500; GDF1 Tetralogy of Fallot; 187500; JAG1 Tetralogy of Fallot; 187500; ZFPM2 Tetrology of Fallot; 187500; NKX2E Thalassemia, alpha-; 604131; HBA2 Thalassemia, Hispanic gamma-delta-beta; 604131; LCRB Thalassemia-beta, dominant inclusion-body; 603902; HBB Thalassemias, alpha-; 604131; HBA1 Thalassemias, beta-; 604131; HBB Thanatophoric dysplasia, type I; 187600; FGFR3 Thiamine-responsive megaloblastic anemia syndrome; 249270; SLC19A2 Three M syndrome 2; 612921; OBSL1 Thrombocythemia, essential; 187950; JAK2 Thrombocythemia, essential; 187950; MPL Thrombocythemia, essential; 187950; THPO Thrombocytopenia 4; 612004; CYCS Thrombocytopenia with beta-thalassemia, X-linked; 314050; GATA1 Thrombocytopenia, congenital amegakaryocytic; 604498; MPL Thrombocytopenia, X-linked; 313900; WAS Thrombocytopenia, X-linked, intermittent; 313900; WAS Thrombocytopenia-2; 188000; FLJ14813 Thrombocytopenic purpura, autoimmune; 188030; FCGR2C Thrombophilia due to elevated HRG; 613116; HRG Thrombophilia due to heparin cofactor II deficiency; 612356; HCF2 Thrombophilia due to HRG deficiency; 613116; HRG Thrombophilia due to protein C deficiency, autosomal dominant; 176860; PROC Thrombophilia due to protein C deficiency, autosomal recessive; 612304; PROC Thrombophilia due to protein S deficiency; 612336; PROS1 Thrombophilia, familial, due to decreased release of PLAT; 612348; PLAT Thrombophilia, X-linked, due to factor IX defect; 300807; F9 Thrombosis, hyperhomocysteinemic; 236200; CBS Thrombotic thrombocytopenic purpura, familial; 274150; ADAMTS13 Thryoid dyshormonogenesis 6; 607200; DUOX2 Thyroid carcinoma, follicular; 188470; MINPP1 Thyroid carcinoma, follicular; 188470; NRAS Thyroid carcinoma, papillary; 188550; GOLGA5 Thyroid carcinoma, papillary; 188550; NCOA4 Thyroid carcinoma, papillary; 188550; PCM1 Thyroid carcinoma, papillary; 188550; PRKAR1A Thyroid carcinoma, papillary; 188550; TRIM24 Thyroid carcinoma, papillary; 188550; TRIM33 Thyroid dyshormonogenesis 1; 274400; SLC5A5 Thyroid dyshormonogenesis 2A; 274500; TPO Thyroid dyshormonogenesis 3; 274700; TG Thyroid dyshormonogenesis 4; 274800; IYD Thyroid dyshormonogenesis 5; 274900; DUOXA2 Thyroid hormone metabolism, abnormal; 609698; SECISBP2 Thyroid hormone resistance; 188570; THRB Thyroid hormone resistance, autosomal recessive; 274300; THRB Thyroid hormone resistance, selective pituitary; 145650; THRB Thyroid papillary carcinoma; 188550; CCDC6 Tibial muscular dystrophy, tardive; 600334; TTN Tietz albinism-deafness syndrome; 103500; MITF Timothy syndrome; 601005; CACNA1C Tn syndrome; 300622; C1GALT1C1 Toenail dystrophy, isolated; 607523; COL7A1 Tooth agenesis, selective, 1, with or without orofacial cleft; 106600; MSX1 Tooth agenesis, selective, 3; 604625; PAX9 Tooth agenesis, selective, 6; 613097; LTBP3 Tooth agenesis, selective, X-linked 1; 313500; ED1 Torg-Winchester syndrome; 259600; MMP2 Tourette syndrome; 137580; SLITRK1 Townes-Brocks branchiootorenal-like syndrome; 107480; SALL1 Townes-Brocks syndrome; 107480; SALL1 Transaldolase deficiency; 606003; TALDO1 Transcobalamin II deficiency; 275350; TCN2 Transient bullous of the newborn; 131705; COL7A1 Transposition of the great arteries, dextro-looped 1; 608808; MED13L Treacher Collins mandibulofacial dysostosis; 154500; TCOF1 Trehalase deficiency; 612119; TREH Trichodentoosseous syndrome; 190320; DLX3 Trichoepithelioma, multiple familial, 1; 601606; CYLD1 Trichorhinophalangeal syndrome, type I; 190350; TRPS1 Trichorhinophalangeal syndrome, type III; 190351; TRPS1 Trichothiodystrophy; 601675; ERCC2 Trichothiodystrophy; 601675; ERCC3 Trichothiodystrophy, complementation group A; 601675; GTF2H5 Trichothiodystrophy, nonphotosensitive 1; 234050; C7orf11 Trichotillomania; 613229; SLITRK1 Trifunctional protein deficiency; 609015; HADHA Trifunctional protein deficiency; 609015; HADHB Trigonocephaly; 190440; FGFR1 Trimethylaminuria; 602079; FMO3 Triphalangeal thumb, type I; 174500; LMBR1 Triphalangeal thumb-polysyndactyly syndrome; 174500; LMBR1 Trismus-pseudocamptodactyly syndrome; 158300; MYH8 Tropical calcific pancreatitis; 608189; SPINK1 Troyer syndrome; 275900; SPG20 Tuberous sclerosis-1; 191100; TSC1 Tuberous sclerosis-2; 191100; TSC2 Tumoral calcinosis, familial, normophosphatemic; 610455; SAMD9 Tumoral calcinosis, hyperphosphatemic; 211900; KL Tumoral calcinosis, hyperphosphatemic, familial; 211900; FGF23 Tumoral calcinosis, hyperphosphatemic, familial; 211900; GALNT3 Tyrosine kinase 2 deficiency; 611521; TYK2 Tyrosinemia type II; 277660; TAT Tyrosinemia type III; 276710; HPD Ullrich congenital muscular dystrophy; 254090; COL6A1 Ullrich congenital muscular dystrophy; 254090; COL6A2 Ullrich congenital muscular dystrophy; 254090; COL6A3 Ulna and fibula, absence of, with sever limb deficiency; 276820; WNT7A Ulnar-mammary syndrome; 181450; TBX3 Urocanase deficiency; 276880; UROC1 Urofacial syndrome; 236730; HPSE2 Usher syndrome, type 1B; 276900; MYO7A Usher syndrome, type 1C; 276904; USH1C Usher syndrome, type 1D; 601067; CDH23 Usher syndrome, type 1D/F digenic; 601067; CDH23 Usher syndrome, type 1D/F digenic; 601067; PCDH15 Usher syndrome, type 1F; 602083; PCDH15 Usher syndrome, type 1G; 606943; SANS Usher syndrome, type 2A; 276901; USH2A Usher syndrome, type 3; 276902; CLRN1 Usher syndrome, type IIC; 605472; GPR98 Usher syndrome, type IID; 611383; WHRN UV-sensitive syndrome; 600630; ERCC6 VACTERL association; 192350; HOXD13 Van Buchem disease; 239100; SOST van Buchem disease, type 2; 607636; LRP5 van der Woude syndrome; 119300; IRF6 Vasculopathy, retinal, with cerebral leukodystrophy; 192315; TREX1 VATER association with macrocephaly and ventriculomegaly; 276950; PTEN Velocardiofacial syndrome; 192430; TBX1 Venous malformations, multiple cutaneous and mucosal; 600195; TEK Ventricular fibrillation, familial, 1; 603829; SCN5A Ventricular fibrillation, paroxysmal familial, 2; 612956; DPP6 Ventricular tachycardia, catecholaminergic polymorphic, 1; 604772; RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 2; 611938; CASQ2 Ventricular tachycardia, idiopathic; 192605; GNAI2 Vertical talus, congenital; 192950; HOXD10 Vesicoureteral reflux 2; 610878; ROBO2 Vitamin D-dependent rickets, type I; 264700; CYP27B1 Vitamin K-dependent clotting factors, combined deficiency of, 2; 607473; VKORC1 Vitamin K-dependent coagulation defect; 277450; GGCX Vitelliform macular dystrophy, adult-onset; 608161; BEST1 Vitreoretinochoroidopathy; 193220; BEST1 VLCAD deficiency; 201475; ACADVL Vohwinkel syndrome with ichthyosis; 604117; LOR Vohwinkel syndrome; 124500; GJB2 von Hippel-Lindau disease, modification of; 193300; CCND1 von Hippel-Lindau syndrome; 193300; VHL von Willebrand disease, autosomal dominant; 193400; VWF von Willebrand disease, autosomal recessive; 277480; VWF von Willebrand disease, platelet-type; 177820; GP1BA Waardenburg syndrome type 1; 193500; PAX3 Waardenburg syndrome type 2D; 608890; SNAI2 Waardenburg syndrome type 2E, with or without neurologic involvement; 611584; SOX10 Waardenburg syndrome type 3; 148820; PAX3 Waardenburg syndrome type 4A; 277580; EDNRB Waardenburg syndrome type 4B; 613265; EDN3 Waardenburg syndrome type 4C; 613266; SOX10 Waardenburg syndrome type IIA; 193510; MITF Waardenburg syndrome/albinism, digenic; 103470; TYR Waardenburg syndrome/ocular albinism, digenic; 103470; MITF Wagner syndrome 1; 143200; VCAN Warburg micro syndrome 1; 600118; RAB3GAP1 Warfarin resistance; 122700; VKORC1 Warfarin sensitivity; 122700; CYP2C9 Warsaw breakage syndrome; 613398; DDX11 Watson syndrome; 193520; NF1 Weaver syndrome; 277590; NSD1 Weill-Marchesani syndrome, dominant; 608328; FBN1 Weill-Marchesani syndrome, recessive; 277600; ADAMTS10 Weill-Marchesani-like syndrome; 613195; ADAMTS17 Weissenbacher-Zweymuller syndrome; 277610; COL11A2 Werner syndrome; 277700; RECQL2 Weyers acrodental dysostosis; 193530; EVC WHIM syndrome; 193670; CXCR4 White sponge nevus; 193900; KRT13 White sponge nevus; 193900; KRT4 Wilms tumor 2; 194071; H19 Wilms tumor; 194070; BRCA2 Wilms tumor, somatic; 194070; GPC3 Wilms tumor, type 1; 194070; WT1 Wilson disease; 277900; ATP7B Wiskott-Aldrich syndrome; 301000; WAS Witkop syndrome; 189500; MSX1 Wolcott-Rallison syndrome; 226980; EIF2AK3 Wolff-Parkinson-White syndrome; 194200; PRKAG2 Wolfram syndrome 2; 604928; CISD2 Wolfram syndrome; 222300; WFS1 Wolfram-like syndrome, autosomal dominant; 222300; WFS1 Wolman disease; 278000; LIPA Woodhouse-Sakati syndrome; 241080; C2orf37 Woolly hair, autosomal dominant; 194300; KRT74 Woolly hair, autosomal recessive 1; 278150; P2RY5 Woolly hair, autosomal recessive 2 with or without hypotrichosis; 604379; LIPH Wrinkly skin syndrome; 278250; ATP6V0A2 Xanthinuria, type I; 278300; XDH Xeroderma pigmentosum group A; 278700; XPA Xeroderma pigmentosum group B; 610651; ERCC3 Xeroderma pigmentosum group C; 278720; XPC Xeroderma pigmentosum group D; 278730; ERCC2 Xeroderma pigmentosum group E, DDB-negative subtype; 278740; DDB2 Xeroderma pigmentosum group F; 278760; ERCC4 Xeroderma pigmentosum group G; 278780; ERCC5 Xeroderma pigmentosum, variant type; 278750; POLH XFE progeroid syndrome; 610965; ERCC4 X-inactivation, familial skewed; 300087; XIC Zellweger syndrome; 214100; PEX10 Zellweger syndrome; 214100; PEX13 Zellweger syndrome; 214100; PEX14 Zellweger syndrome; 214100; PEX26 Zellweger syndrome; 214100; PEX5 Zellweger syndrome; 214100; PXF Zellweger syndrome, complementation group G; 214100; PEX3 Zellweger syndrome-1; 214100; PEX1".
- List_of_OMIM_disorder_codes wikiPageExternalLink download.
- List_of_OMIM_disorder_codes wikiPageID "30098993".
- List_of_OMIM_disorder_codes wikiPageLength "221944".
- List_of_OMIM_disorder_codes wikiPageOutDegree "6214".
- List_of_OMIM_disorder_codes wikiPageRevisionID "671495931".
- List_of_OMIM_disorder_codes wikiPageWikiLink 11β-hydroxysteroid_dehydrogenase_type_1.
- List_of_OMIM_disorder_codes wikiPageWikiLink 17-beta-hydroxysteroid_dehydrogenase_X_deficiency.
- List_of_OMIM_disorder_codes wikiPageWikiLink 17-beta-hydroxysteroid_dehydrogenase_deficiency.
- List_of_OMIM_disorder_codes wikiPageWikiLink 17Beta_Hydroxysteroid_dehydrogenase.
- List_of_OMIM_disorder_codes wikiPageWikiLink 2-Hydroxyglutaric_aciduria.
- List_of_OMIM_disorder_codes wikiPageWikiLink 2-methylbutyrylglycinuria.
- List_of_OMIM_disorder_codes wikiPageWikiLink 24-dehydrocholesterol_reductase.
- List_of_OMIM_disorder_codes wikiPageWikiLink 25-Hydroxyvitamin_D3_1-alpha-hydroxylase.
- List_of_OMIM_disorder_codes wikiPageWikiLink 3-M_syndrome.
- List_of_OMIM_disorder_codes wikiPageWikiLink 3-Methylcrotonyl-CoA_carboxylase_1_deficiency.
- List_of_OMIM_disorder_codes wikiPageWikiLink 3-Methylcrotonyl-CoA_carboxylase_2_deficiency.
- List_of_OMIM_disorder_codes wikiPageWikiLink 3-Methylglutaconic_aciduria.
- List_of_OMIM_disorder_codes wikiPageWikiLink 3-Methylglutaconic_aciduria_type_I.
- List_of_OMIM_disorder_codes wikiPageWikiLink 3-Methylglutaconic_aciduria_type_III.
- List_of_OMIM_disorder_codes wikiPageWikiLink 3-Methylglutaconic_aciduria_type_V.
- List_of_OMIM_disorder_codes wikiPageWikiLink 3-hydroxyacyl-coa_dehydrogenase_deficiency.
- List_of_OMIM_disorder_codes wikiPageWikiLink 3-hydroxyacyl-coenzyme_A_dehydrogenase_deficiency.
- List_of_OMIM_disorder_codes wikiPageWikiLink 3-hydroxyisobutryl-CoA_hydrolase_deficiency.
- List_of_OMIM_disorder_codes wikiPageWikiLink 40430.
- List_of_OMIM_disorder_codes wikiPageWikiLink 40513.
- List_of_OMIM_disorder_codes wikiPageWikiLink 46XX_true_hermaphroditism.
- List_of_OMIM_disorder_codes wikiPageWikiLink 46XY_complete_gonadal_dysgenesis.
- List_of_OMIM_disorder_codes wikiPageWikiLink 46XY_gonadal_dysgenesis,_complete,_CBS2-related.
- List_of_OMIM_disorder_codes wikiPageWikiLink 46XY_gonadal_dysgenesis,_complete_or_partial,_with_or_without_adrenal_failure.
- List_of_OMIM_disorder_codes wikiPageWikiLink 46XY_partial_gonadal_dysgenesis,_with_minifascicular_neuropathy.
- List_of_OMIM_disorder_codes wikiPageWikiLink 5-fluorouracil_toxicity.
- List_of_OMIM_disorder_codes wikiPageWikiLink 6-mercaptopurine_sensitivity.
- List_of_OMIM_disorder_codes wikiPageWikiLink 7-Dehydrocholesterol_reductase.
- List_of_OMIM_disorder_codes wikiPageWikiLink 9q34_deletion_syndrome.
- List_of_OMIM_disorder_codes wikiPageWikiLink AAAS_(gene).
- List_of_OMIM_disorder_codes wikiPageWikiLink AASS.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABAT.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCA1.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCA12.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCA3.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCA4.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCB11.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCB4.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCB7.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCC2.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCC6.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCC8.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCC9.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCD1.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCD_syndrome.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCG5.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABCG8.
- List_of_OMIM_disorder_codes wikiPageWikiLink ABHD5.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACAD8.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACAD9.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACAD9_deficiency.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACADL.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACADM.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACADS.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACADSB.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACADVL.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACAT1.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACOX1.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACP2.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACP33.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACSL4.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACTA1.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACTA2.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACTB.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACTC1.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACTG1.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACTH_receptor.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACTN2.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACTN4.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACVR1.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACVRL1.
- List_of_OMIM_disorder_codes wikiPageWikiLink ACY1.
- List_of_OMIM_disorder_codes wikiPageWikiLink AD10.
- List_of_OMIM_disorder_codes wikiPageWikiLink AD5.
- List_of_OMIM_disorder_codes wikiPageWikiLink AD6.
- List_of_OMIM_disorder_codes wikiPageWikiLink AD8.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADAM9.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADAMTS10.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADAMTS13.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADAMTS17.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADAMTS2.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADAMTSL2.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADAMTSL4.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADAR.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADCK3.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADIPOQ.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADSL.
- List_of_OMIM_disorder_codes wikiPageWikiLink ADULT_syndrome.
- List_of_OMIM_disorder_codes wikiPageWikiLink AF10.
- List_of_OMIM_disorder_codes wikiPageWikiLink AFF2.
- List_of_OMIM_disorder_codes wikiPageWikiLink AFG3L2.
- List_of_OMIM_disorder_codes wikiPageWikiLink AGAT_deficiency.
- List_of_OMIM_disorder_codes wikiPageWikiLink AGL_(gene).
- List_of_OMIM_disorder_codes wikiPageWikiLink AGPAT2.