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–Goutières syndrome 1, dominant and recessive; 225750; TREX1 Aicardi–Goutières syndrome 2; 610181; RNASEH2B Aicardi–Goutières syndrome 3; 610329; RNASEH2C Aicardi–Goutières syndrome 4; 610333; RNASEH2A Aicardi–Goutières 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 Alström 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 syndrome; 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–Dubé syndrome; 135150; FLCN Björnstad 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 Börjeson–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's 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 Chédiak–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; ARSL 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 Choroidal 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 malonic and methylmalonic aciduria (CMAMMA); 614265; ACSF3 Combined malonic and methylmalonic aciduria (CMAMMA); 248360; MLYCD 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 syndrome; 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 defi