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ウィキペディア英語版での「List of OMIM disorder codes」の意味

List of OMIM disorder codes

出典:『Wikipedia』 (2011/03/24 09:12 UTC 版)

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Below is a list of OMIM disorder codes:

17,20-lyase deficiency, isolated; 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 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
Carbamoylphosphate 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 our 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 out without situs inversus; 611884; DNAH11
Ciliary dyskinesia, primary, 9, with our 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
Craniolenticulosutural 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; DHS
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
Dentatorubro-pallidoluysian 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
Dicarboxylicaminoaciduria; 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-bidphosphatase 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-Shprintzen 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; C TSC
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
Hutchinson-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

List of OMIM disorder codesとは 意味・読み方・使い方

ウィキペディア英語版での「List of OMIM disorder codes」の意味

List of OMIM disorder codes

List of OMIM disorder codesとは意味・読み方・使い方