List of OMIM disorder codes

This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information.

Isolated 17,20-lyase deficiency; 202110; CYP17A1
17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1
17-beta-hydroxysteroid dehydrogenase X deficiency; 300438; HSD17B10
2-methylbutyrylglycinuria; 610006; ACADSB
3-hydroxyacyl-coa dehydrogenase deficiency; 231530; HADHSC
3-hydroxyisobutryl-CoA hydrolase deficiency; 250620; HIBCH
3-M syndrome; 273750; CUL7
3-Methylcrotonyl-CoA carboxylase 1 deficiency; 210200; MCCC1
3-Methylcrotonyl-CoA carboxylase 2 deficiency; 210210; MCCC2
3-Methylglutaconic aciduria type I; 250950; AUH
3-Methylglutaconic aciduria type III; 258501; OPA3
3-Methylglutaconic aciduria type V; 610198; DNAJC19
46XX true hermaphroditism; 400045; SRY
46XY complete gonadal dysgenesis; 233420; DHH
46XY complete gonadal dysgenesis; 400044; SRY
46XY gonadal dysgenesis, complete or partial, with or without adrenal failure; 612965; NR5A1
46XY gonadal dysgenesis, complete, CBS2-related; 613080; CBX2
46XY partial gonadal dysgenesis, with minifascicular neuropathy; 607080; DHH
5-fluorouracil toxicity; 274270; DPYD
6-mercaptopurine sensitivity; 610460; TPMT
Aarskog–Scott syndrome; 305400; FGD1
ABCD syndrome; 600501; EDNRB
Abetalipoproteinemia; 200100; MTP
ACAD9 deficiency; 611126; ACAD9
Acampomelic campomelic dysplasia; 114290; SOX9
Achalasia-Addisonianism-Alacrimia syndrome; 231550; AAAS
Acheiropody; 200500; LMBR1
Achondrogenesis Ib; 600972; SLC26A2
Achondrogenesis type 1A; 200600; TRIP11
Achondrogenesis-hypochondrogenesis type 2; 200610; COL2A1
Achondroplasia; 100800; FGFR3
Achromatopsia-2; 216900; CNGA3
Achromatopsia-3; 262300; CNGB3
Acrocallosal syndrome; 200990; GLI3
Acrocapitofemoral dysplasia; 607778; IHH
Acrodermatitis enteropathica; 201100; SLC39A4
Acrokeratosis verruciformis; 101900; ATP2A2
Acromesomelic dysplasia, Hunter-Thompson type; 201250; GDF5
Acromesomelic dysplasia, Maroteaux type; 602875; NPR2
Action myoclonus-renal failure syndrome; 254900; SCARB2
Acyl-CoA dehydrogenase, long chain, deficiency of; 201460; ACADL
Acyl-CoA dehydrogenase, medium chain, deficiency of; 201450; ACADM
Acyl-CoA dehydrogenase, short chain, deficiency of; 201470; ACADS
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in; 211980; EGFR
Adenocarcinoma of lung, somatic; 211980; BRAF
Adenocarcinoma of lung, somatic; 211980; ERBB2
Adenocarcinoma of lung, somatic; 211980; PRKN
Adenocarcinoma, ovarian, somatic; 604370; PRKN
Adenomas, multiple colorectal; 608456; MUTYH
Adenomas, salivary gland pleomorphic; 181030; PLAG1
Adenomatous polyposis coli; 175100; APC
Adenosine deaminase deficiency, partial; 102700; ADA
Adenosine triphosphate, elevated, of erythrocytes; 102900; PKLR
Adenylosuccinase deficiency; 103050; ADSL
Adiponectin deficiency; 612556; ADIPOQ
Adrenal cortical carcinoma; 202300; TP53
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; 202010; CYP11B1
Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency; 201750; POR
Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; 300200; DAX1
Adrenocorticotropic hormone deficiency; 201400; TBS19
Adrenoleukodystrophy; 300100; ABCD1
Adrenoleukodystrophy, neonatal; 202370; PEX1
Adrenoleukodystrophy, neonatal; 202370; PEX10
Adrenoleukodystrophy, neonatal; 202370; PEX13
Adrenoleukodystrophy, neonatal; 202370; PEX26
Adrenoleukodystrophy, neonatal; 202370; PEX5
Adrenomyeloneuropathy; 300100; ABCD1
Adult i phenotype with congenital cataract; 110800; GCNT2
Adult i phenotype without cataract; 110800; GCNT2
ADULT syndrome; 103285; TP63
Advanced sleep phase syndrome, familial; 604348; PER2
Afibrinogenemia, congenital; 202400; FGA
Afibrinogenemia, congenital; 202400; FGB
Agammaglobulinemia 1; 601495; IGHM
Agammaglobulinemia 2; 613500; IGLL1
Agammaglobulinemia 4; 613502; BLNK
Agammaglobulinemia 5; 613506; LRRC8A
Agammaglobulinemia and isolated hormone deficiency; 307200; BTK
Agammaglobulinemia, type 1, X-linked; 300755; BTK
AGAT deficiency; 612718; GATM
Agenesis of the corpus callosum with peripheral neuropathy; 218000; SLC12A6
Aicardi–Goutières syndrome 1, dominant and recessive; 225750; TREX1
Aicardi–Goutières syndrome 2; 610181; RNASEH2B
Aicardi–Goutières syndrome 3; 610329; RNASEH2C
Aicardi–Goutières syndrome 4; 610333; RNASEH2A
Aicardi–Goutières syndrome 5; 612952; SAMHD1
AICA-ribosiduria due to ATIC deficiency; 608688; ATIC
Alagille syndrome 2; 610205; NOTCH2
Alagille syndrome; 118450; JAG1
Aland Island eye disease; 300600; CACNA1F
Albinism, brown oculocutaneous; 203200; OCA2
Albinism, brown; 203290; TYRP1
Albinism, oculocutaneous, type IA; 203100; TYR
Albinism, oculocutaneous, type IB; 606952; TYR
Albinism, oculocutaneous, type II; 203200; OCA2
Albinism, rufous; 278400; TYRP1
Alcohol sensitivity, acute; 610251; ALDH2
Aldosteronism, glucocorticoid-remediable; 103900; CYP11B1
Alexander disease; 203450; GFAP
Alexander disease; 203450; NDUFV1
Alkaptonuria; 203500; HGD
Allan–Herndon–Dudley syndrome; 300523; SLC16A2
Alopecia universalis; 203655; HR
Alopecia, neurologic defects, and endocrinopathy syndrome; 612079; RBM28
Alpers syndrome; 203700; POLG
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; 609889; RAG1
Alpha-2-plasmin inhibitor deficiency; 262850; PLI
Alpha-ketoglutarate dehydrogenase deficiency; 203740; OGDH
Alpha-methylacetoacetic aciduria; 203750; ACAT1
Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX
Alpha-thalassemia mental retardation syndrome; 301040; ATRX
Alport syndrome; 301050; COL4A5
Alport syndrome, autosomal recessive; 203780; COL4A3
Alport syndrome, autosomal recessive; 203780; COL4A4
Alström syndrome; 203800; ALMS1
Alternating hemiplegia of childhood; 104290; ATP1A2
Alveolar capillary dysplasia with misalignment of pulmonary veins; 265380; FOXF1
Alveolar soft part sarcoma; 606243; ASPSCR1
Alzheimer disease 1, familial; 104300; APP
Alzheimer disease 6; 104300; AD6
Alzheimer disease 8; 104300; AD8
Alzheimer disease, late-onset, susceptibility to; 104300; NOS3
Alzheimer disease, type 3; 607822; PSEN1
Alzheimer disease, type 3, with spastic paraparesis and apraxia; 607822; PSEN1
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; 607822; PSEN1
Alzheimer disease-10; 104300; AD10
Alzheimer disease-2; 104310; APOE
Alzheimer disease-4; 606889; PSEN2
Alzheimer disease-5; 104300; AD5
Amelogenesis imperfecta, hypomaturation type, IIA3; 613211; WDR72
Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; 104510; DLX3
Amelogenesis imperfecta, hypoplastic/hypomaturation type; 301200; AMELX
Amelogenesis imperfecta, type 3; 130900; FAM83H
Amelogenesis imperfecta, type IB; 104500; ENAM
Amelogenesis imperfecta, type IC; 204650; ENAM
Amelogenesis imperfecta, type IIA1; 204700; KLK4
Amelogenesis imperfecta, type IIA2; 612529; MMP20
Aminoacylase 1 deficiency; 609924; ACY1
Amish infantile epilepsy syndrome; 609056; SIAT9
Amyloidosis, 3 or more types; 105200; APOA1
Amyloidosis, Finnish type; 105120; GSN
Amyloidosis, hereditary renal; 105200; FGA
Amyloidosis, hereditary, transthyretin-related; 105210; TTR
Amyloidosis, primary localized cutaneous; 105250; OSMR
Amyloidosis, renal; 105200; LYZ
Amyotrophic lateral sclerosis 10, with or without FTD; 612069; TARDBP
Amyotrophic lateral sclerosis 11; 612577; FIG4
Amyotrophic lateral sclerosis 4, juvenile; 602433; SETX
Amyotrophic lateral sclerosis 6, autosomal recessive; 608030; FUS
Amyotrophic lateral sclerosis 8; 608627; VAPB
Amyotrophic lateral sclerosis 9; 611895; ANG
Amyotrophic lateral sclerosis, due to SOD1 deficiency; 105400; SOD1
Amyotrophic lateral sclerosis, juvenile; 205100; ALS2
Amyotrophy, hereditary neuralgic; 162100; 40430
Amytrophic lateral sclerosis 12; 613435; OPTN
Anauxetic dysplasia; 607095; RMRP
Androgen insensitivity syndrome; 300068; AR
Androgen insensitivity, partial, with or without breast cancer; 312300; AR
Anemia, congenital dyserythropoietic, type I; 224120; CDAN1
Anemia, dyserythropoietic congenital, type II; 224100; SEC23B
Anemia, hemolytic, due to UMPH1 deficiency; 266120; NT5C3
Anemia, hemolytic, Rh-null, regulator type; 268150; RHAG
Anemia, hypochromic microcytic; 206100; NRAMP2
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; GLRX5
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; SLC25A38
Anemia, sideroblastic, with ataxia; 301310; ABCB7
Anemia, sideroblastic, X-linked; 300751; ALAS2
Angelman syndrome; 105830; MECP2
Angelman syndrome; 105830; UBE3A
Angelman syndrome-like; 105830; CDKL5
Angioedema, hereditary, type III; 610618; F12
Angioedema, hereditary, types I and II; 106100; C1NH
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; 611773; COL4A1
Aniridia; 106210; PAX6
Anonychia congenita; 206800; RSPO4
Anterior segment mesenchymal dysgenesis; 107250; FOXE3
Anterior segment mesenchymal dysgenesis; 107250; PITX3
Antithrombin III deficiency; 613118; AT3
Antley–Bixler syndrome; 207410; FGFR2
Antley–Bixler syndrome-like with disordered steroidogenesis; 201750; POR
Anxiety-related personality traits; 607834; SLC6A4
Aortic aneurysm, familial thoracic 4; 132900; MYH11
Aortic aneurysm, familial thoracic 6; 611788; ACTA2
Aortic valve disease; 109730; NOTCH1
Apert syndrome; 101200; FGFR2
Aphakia, congenital primary; 610256; FOXE3
Aplasia of lacrimal and salivary glands; 180920; FGF10
Aplastic anemia; 609135; TERC
Argininemia; 207800; ARG1
Argininosuccinic aciduria; 207900; ASL
Aromatase deficiency; 613546; CYP19A1
Aromatase excess syndrome; 139300; CYP19A1
Aromatic L-amino acid decarboxylase deficiency; 608643; DDC
Arrhythmogenic right ventricular dysplasia 1; 107970; TGFB3
Arrhythmogenic right ventricular dysplasia 2; 600996; RYR2
Arrhythmogenic right ventricular dysplasia 5; 604400; LAMR1
Arrhythmogenic right ventricular dysplasia 8; 607450; DSP
Arrhythmogenic right ventricular dysplasia, familial, 10; 610193; DSG2
Arrhythmogenic right ventricular dysplasia, familial, 11; 610476; DSC2
Arrhythmogenic right ventricular dysplasia, familial, 12; 611528; JUP
Arrhythmogenic right ventricular dysplasia, familial, 5; 604400; TMEM43
Arrhythmogenic right ventricular dysplasia, familial, 9; 609040; PKP2
Arterial calcification, generalized, of infancy; 208000; ENPP1
Arterial tortuosity syndrome; 208050; SLC2A10
Arthrogryposis multiplex congenita, distal type 1; 108120; TPM2
Arthrogryposis multiplex congenita, distal type 2B; 601680; TNNI2
Arthrogryposis, distal, type 2A; 193700; MYH3
Arthrogryposis, distal, type 2B; 601680; MYH3
Arthrogryposis, distal, type 2B; 601680; TPM2
Arthrogryposis, lethal, with anterior horn cell disease; 611890; GLE1
Arthrogryposis, renal dysfunction, and cholestasis 1; 208085; VPS33B
Arthrogryposis, renal dysfunction, and cholestasis 2; 613404; VIPAR
Arthropathy, progressive pseudorheumatoid, of childhood; 208230; WISP3
Arthyrgryposis, distal, type 2B; 601680; TNNT3
Arts syndrome; 301835; PRPS1
Aspartylglucosaminuria; 208400; AGA
Asphyxiating thoracic dystrophy 2; 611263; IFT80
Asphyxiating thoracic dystrophy 3; 613091; DYNC2H1
Asthma and nasal polyps; 208550; TBX21
Ataxia with isolated vitamin E deficiency; 277460; TTPA
Ataxia, cerebellar, Cayman type; 601238; ATCAY
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; 208920; APTX
Ataxia–ocular apraxia-2; 606002; SETX
Ataxia–telangiectasia; 208900; ATM
Ataxia–telangiectasia-like disorder; 604391; MRE11A
Atelosteogenesis II; 256050; SLC26A2
Atelosteogenesis, type III; 108721; FLNB
Atelostogenesis, type I; 108720; FLNB
Athabaskan brainstem dysgenesis syndrome; 601536; HOXA1
Atopy; 147050; SPINK5
ATP synthase deficiency, nuclear-encoded; 604273; ATPAF2
Atransferrinemia; 209300; TF
Atrial fibrillation; 608583; GJA5
Atrial fibrillation, familial, 3; 607554; KCNQ1
Atrial fibrillation, familial, 4; 611493; KCNE2
Atrial fibrillation, familial, 6; 612201; NPPA
Atrial fibrillation, familial, 7; 612240; KCNA5
Atrial septal defect 4; 611363; TBX20
Atrial septal defect 5; 612794; ACTC1
Atrial septal defect 6; 613087; TLL1
Atrial septal defect with atrioventricular conduction defects; 108900; NKX2E
Atrial septal defect-2; 607941; GATA4
Atrichia with papular lesions; 209500; HR
Atrioventricular canal defect; 600309; AVSD1
Atrioventricular septal defect; 600309; GJA1
Atrioventricular septal defect, partial, with heterotaxy syndrome; 606217; CRELD1
Auditory neuropathy, autosomal recessive, 1; 601071; OTOF
Autoimmune disease, syndromic multisystem; 613385; ITCH
Autoimmune lymphoproliferative syndrome, type IA; 601859; TNFRSF6
Autoimmune lymphoproliferative syndrome, type II; 603909; CASP10
Autoimmune lymphoproliferative syndrome, type IIB; 607271; CASP8
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia; 240300; AIRE
Axenfeld–Rieger syndrome, type 1; 180500; PITX2
Axenfeld–Rieger syndrome, type 3; 602482; FOXC1
Azoospermia due to perturbations of meiosis; 270960; SYCP3
Azoospermia; 415000; USP9Y
Baller–Gerold syndrome; 218600; RECQL4
Bamforth–Lazarus syndrome; 241850; FOXE1
Bannayan–Riley–Ruvalcaba syndrome; 153480; PTEN
Bardet–Biedl syndrome 1; 209900; BBS1
Bardet–Biedl syndrome 10; 209900; BBS10
Bardet–Biedl syndrome 11; 209900; TRIM32
Bardet–Biedl syndrome 12; 209900; BBS12
Bardet–Biedl syndrome 13; 209900; MKS1
Bardet–Biedl syndrome 14; 209900; CEP290
Bardet–Biedl syndrome 15; 209900; C2orf86
Bardet–Biedl syndrome 2; 209900; BBS2
Bardet–Biedl syndrome 3; 209900; ARL6
Bardet–Biedl syndrome 4; 209900; BBS4
Bardet–Biedl syndrome 5; 209900; BBS5
Bardet–Biedl syndrome 6; 209900; MKKS
Bardet–Biedl syndrome 7; 209900; BBS7
Bardet–Biedl syndrome 8; 209900; TTC8
Bardet–Biedl syndrome 9; 209900; PTHB1
Bare lymphocyte syndrome, type I; 604571; TAP1
Bare lymphocyte syndrome, type I; 604571; TAPBP
Bare lymphocyte syndrome, type I, due to TAP2 deficiency; 604571; TAP2
Bare lymphocyte syndrome, type II, complementation group A; 209920; MHC2TA
Bare lymphocyte syndrome, type II, complementation group C; 209920; RFX5
Bare lymphocyte syndrome, type II, complementation group D; 209920; RFXAP
Bare lymphocyte syndrome, type II, complementation group E; 209920; RFX5
Barth syndrome; 302060; TAZ
Bart–Pumphrey syndrome; 149200; GJB2
Bartter syndrome, type 1; 601678; SLC12A1
Bartter syndrome, type 2; 241200; KCNJ1
Bartter syndrome, type 3; 607364; CLCNKB
Bartter syndrome, type 4, digenic; 602522; CLCNKB
Bartter syndrome, type 4a; 602522; BSND
Bartter syndrome, type 4b, digenic; 613090; CLCNKA
Basal cell carcinoma, somatic; 605462; PTCH1
Basal cell carcinoma, somatic; 605462; PTCH2
Basal cell carcinoma, somatic; 605462; RASA1
Basal cell nevus syndrome; 109400; PTCH1
Basal ganglia disease, biotin-responsive; 607483; SLC19A3
Basal laminar drusen; 126700; HF1
BCG and salmonella infection, disseminated; 209950; IL12B
BCG infection, generalized familial; 209950; IFNGR1
Beare–Stevenson cutis gyrata syndrome; 123790; FGFR2
Becker muscular dystrophy; 300376; DMD
Beckwith–Wiedemann syndrome; 130650; CDKN1C
Beckwith–Wiedemann syndrome; 130650; H19
Beckwith–Wiedemann syndrome; 130650; KCNQ10T1
Beckwith–Wiedemann syndrome; 130650; NSD1
Bernard–Soulier syndrome, benign autosomal dominant; 153670; GP1BA
Bernard–Soulier syndrome, type A; 231200; GP1BA
Bernard–Soulier syndrome, type B; 231200; GP1BB
Bernard–Soulier syndrome, type C; 231200; GP9
Best macular dystrophy; 153700; BEST1
Bestrophinopathy; 611809; BEST1
Beta-ureidopropionase deficiency; 613161; UPB1
Bethlem myopathy; 158810; COL6A1
Bethlem myopathy; 158810; COL6A2
Bethlem myopathy; 158810; COL6A3
Bietti crystalline corneoretinal dystrophy; 210370; CYP4V2
Bifid nose with or without anorectal and renal anomalies; 608980; FREM1
Bile acid malabsorption, primary; 613291; SLC10A2
Bile acid synthesis defect, congenital, 2; 235555; AKR1D1
Bile acid synthesis defect, congenital, 4; 214950; AMACR
Biotinidase deficiency; 253260; BTD
Birk–Barel mental retardation dysmorphism syndrome; 612292; KCNK9
Birt–Hogg–Dubé syndrome; 135150; FLCN
Björnstad syndrome; 262000; BCS1L
Bladder cancer; 109800; KRAS
Bladder cancer; 109800; RB1
Bladder cancer, somatic; 109800; FGFR3
Blau syndrome; 186580; NOD2
Bleeding disorder due to P2RY12 defect; 609821; P2RY12
Blepharophimosis, epicanthus inversus, and ptosis, type 1; 110100; FOXL2
Blepharophimosis, epicanthus inversus, and ptosis, type 2; 110100; FOXL2
Blood group--Lutheran inhibitor; 111150; KLF1
Bloom syndrome; 210900; RECQL3
Blue cone monochromacy; 303700; OPN1MW
Blue cone monochromacy; 303700; OPN1LW
Boomerang dysplasia; 112310; FLNB
Börjeson–Forssman–Lehmann syndrome; 301900; PHF6
Bosley–Salih–Alorainy syndrome; 601536; HOXA1
Bothnia retinal dystrophy; 607475; RLBP1
Bowen–Conradi syndrome; 211180; EMG1
Brachiootic syndrome 3; 608389; SIX1
Brachydactyly type A1; 112500; BDA1B
Brachydactyly type A1; 112500; IHH
Brachydactyly type A2; 112600; BMPR1B
Brachydactyly type A2; 112600; GDF5
Brachydactyly type B1; 113000; ROR2
Brachydactyly type B2; 611377; NOG
Brachydactyly type C; 113100; GDF5
Brachydactyly type D; 113200; HOXD13
Brachydactyly type E; 113300; HOXD13
Brachydactyly type E2; 613382; PTHLH
Brachydactyly-syndactyly syndrome; 610713; HOXD13
Brachyolmia type 3; 113500; TRPV4
Bradyopsia; 608415; RGS9
Bradyopsia; 608415; RGS9BP
Brain small vessel disease with Axenfeld-Rieger anomaly; 607595; COL4A1
Brain small vessel disease with hemorrhage; 607595; COL4A1
Branchiooculofacial syndrome; 113620; TFAP2A
Branchiootorenal syndrome 2; 610896; SIX5
Branchiootorenal syndrome with cataract; 113650; EYA1
Branchiootorenal syndrome; 113650; EYA1
Breast cancer; 114480; PPM1D
Breast cancer; 114480; SLC22A1L
Breast cancer; 114480; TP53
Breast cancer, early-onset; 114480; BRIP1
Breast cancer, invasive ductal; 114480; RAD54L
Breast cancer, somatic; 114480; AKT1
Breast cancer, somatic; 114480; KRAS
Breast cancer, somatic; 114480; PIK3CA
Breast cancer, somatic; 114480; RB1CC1
Brittle cornea syndrome; 229200; ZNF469
Brody myopathy; 601003; ATP2A1
Bronchiectasis with or without elevated sweat chloride 1; 211400; SCNN1B
Bronchiectasis with or without elevated sweat chloride 2; 613021; SCNN1A
Bronchiectasis with or without elevated sweat chloride 3; 613071; SCNN1G
Brooke–Spiegler syndrome; 605041; CYLD1
Brown–Vialetto–Van Laere syndrome; 211530; C20orf54
Bruck syndrome 2; 609220; PLOD2
Brugada syndrome 1; 601144; SCN5A
Brugada syndrome 2; 611777; GPD1L
Brugada syndrome 3; 611875; CACNA1C
Brugada syndrome 4; 611876; CACNB2
Brugada syndrome 5; 612838; SCN1B
Brugada syndrome 6; 613119; KCNE3
Brugada syndrome 7; 613120; SCN3B
Brugada syndrome 8; 613123; HCN4
Brunner syndrome; 300615; MAOA
Burkitt's lymphoma; 113970; MYC
Buschke–Ollendorff syndrome; 166700; LEMD3
C syndrome; 211750; CD96
C5 deficiency; 609536; C5
C6 deficiency; 612446; C6
C7 deficiency; 610102; C7
Caffey disease; 114000; COL1A1
Campomelic dysplasia with autosomal sex reversal; 114290; SOX9
Campomelic dysplasia; 114290; SOX9
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; 208250; PRG4
Camurati–Engelmann disease; 131300; TGFB1
Canavan disease; 271900; ASPA
Candidiasis, familial chronic mucocutaneous, autosomal dominant; 613108; CLEC7A
Candidiasis, familial chronic mucocutaneous, autosomal recessive; 212050; CARD9
Capillary malformation-arteriovenous malformation; 608354; RASA1
Carbamoyl phosphate synthetase I deficiency; 237300; CPS1
Carbohydrate-deficient glycoprotein syndrome, type Ib; 602579; MPI
Carboxypeptidase N deficiency; 212070; CPN1
Carcinoid tumors, intestinal; 114900; SDHD
Cardiac arrhythmia, ankyrin-B-related; 600919; ANK2
Cardiac conduction defect, nonspecific; 612838; SCN1B
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; 604377; SCO2
Cardiofaciocutaneous syndrome; 115150; BRAF
Cardiofaciocutaneous syndrome; 115150; KRAS
Cardiofaciocutaneous syndrome; 115150; MAP2K1
Cardiofaciocutaneous syndrome; 115150; MAP2K2
Cardiomyopathy, dilated 1C; 601493; LDB3
Cardiomyopathy, dilated; 115200; MYBPC3
Cardiomyopathy, dilated, 1A; 115200; LMNA
Cardiomyopathy, dilated, 1AA; 612158; ACTN2
Cardiomyopathy, dilated, 1BB; 612877; DSG2
Cardiomyopathy, dilated, 1CC; 613122; NEXN
Cardiomyopathy, dilated, 1D; 601494; TNNT2
Cardiomyopathy, dilated, 1DD; 613172; RBM20
Cardiomyopathy, dilated, 1E; 601154; SCN5A
Cardiomyopathy, dilated, 1EE; 613252; MYH6
Cardiomyopathy, dilated, 1FF; 613286; TNNI3
Cardiomyopathy, dilated, 1G; 604145; TTN
Cardiomyopathy, dilated, 1GG; 613642; SDHA
Cardiomyopathy, dilated, 1I; 604765; DES
Cardiomyopathy, dilated, 1J; 605362; EYA4
Cardiomyopathy, dilated, 1L; 606685; SGCD
Cardiomyopathy, dilated, 1M; 607482; CSRP3
Cardiomyopathy, dilated, 1N; 607487; TCAP
Cardiomyopathy, dilated, 1O; 608569; ABCC9
Cardiomyopathy, dilated, 1P; 609909; PLN
Cardiomyopathy, dilated, 1R; 613424; ACTC1
Cardiomyopathy, dilated, 1S; 613426; MYH7
Cardiomyopathy, dilated, 1W; 611407; VCL
Cardiomyopathy, dilated, 1X; 611615; FKTN
Cardiomyopathy, dilated, 1Y; 611878; TPM1
Cardiomyopathy, dilated, 1Z; 611879; TNNC1
Cardiomyopathy, dilated, 2A; 611880; TNNI3
Cardiomyopathy, dilated, 3A; 300069; TAZ
Cardiomyopathy, dilated, 3B; 302045; DMD
Cardiomyopathy, familial hypertrophic, 1; 192600; MYH7
Cardiomyopathy, familial hypertrophic, 10; 608758; MYL2
Cardiomyopathy, familial hypertrophic, 11; 612098; ACTC1
Cardiomyopathy, familial hypertrophic, 12; 612124; CSRP3
Cardiomyopathy, familial hypertrophic, 13; 613243; TNNC1
Cardiomyopathy, familial hypertrophic, 14; 613251; MYH6
Cardiomyopathy, familial hypertrophic, 15; 613255; VCL
Cardiomyopathy, familial hypertrophic; 192600; CAV3
Cardiomyopathy, familial hypertrophic; 192600; SLC25A4
Cardiomyopathy, familial hypertrophic, 2; 115195; TNNT2
Cardiomyopathy, familial hypertrophic, 3; 115196; TPM1
Cardiomyopathy, familial hypertrophic, 4; 115197; MYBPC3
Cardiomyopathy, familial hypertrophic, 8; 608751; MYL3
Cardiomyopathy, familial restrictive; 115210; TNNI3
Cardiomyopathy, familial restrictive, 3; 612422; TNNT2
Cardiomyopathy, hypertrophic 6, with WPW; 600858; PRKAG2
Cardiomyopathy, hypertrophic, midventricular, digenic; 192600; MYLK2
Carney complex variant; 608837; MYH8
Carney complex, type 1; 160980; PRKAR1A
Carnitine deficiency, systemic primary; 212140; SLC22A5
Carotid intimal medial thickness 1; 609338; PPARG
Carpal tunnel syndrome, familial; 115430; TTR
Carpenter syndrome; 201000; RAB23
Cartilage–hair hypoplasia; 250250; RMRP
Cataract with late-onset corneal dystrophy; 604219; PAX6
Cataract, autosomal dominant, multiple types 1; 611597; BFSP2
Cataract, cerulean, type 2; 601547; CRYBB2
Cataract, congenital nuclear, 2; 609741; CRYBB3
Cataract, congenital nuclear, autosomal recessive 3; 611544; CRYBB1
Cataract, congenital zonular, with sutural opacities; 600881; CRYBA1
Cataract, congenital; 604219; BFSP2
Cataract, congenital, cerulean type, 3; 608983; CRYGD
Cataract, congenital, X-linked; 302200; NHS
Cataract, Coppock-like; 604307; CRYBB2
Cataract, Coppock-like; 604307; CRYGC
Cataract, cortical, juvenile-onset; 611391; BFSP1
Cataract, crystalline aculeiform; 115700; CRYGD
Cataract, juvenile, with microcornea and glucosuria; 612018; SLC16A12
Cataract, juvenile-onset; 604219; BFSP2
Cataract, lamellar 2; 610425; CRYBA4
Cataract, lamellar; 116800; HSF4
Cataract, Marner type; 116800; HSF4
Cataract, nonnuclear polymorphic congenital; 601286; CRYGD
Cataract, polymorphic and lamellar; 604219; MIP
Cataract, posterior polar, 1; 613020; EPHA2
Cataract, posterior polar, 3; 605387; CHMP4B
Cataract, posterior polar, 4; 610623; PITX3
Cataract, posterior polar, 4, syndromic; 610623; PITX3
Cataract, sutural, with punctate and cerulean opacities; 607133; CRYBB2
Cataract, zonular pulverulent-1; 116200; GJA8
Cataract, zonular pulverulent-3; 601885; GJA3
Cataract-microcornea syndrome; 116150; GJA8
CATSHL syndrome; 610474; FGFR3
Caudal duplication anomaly; 607864; AXIN1
Caudal regression syndrome; 600145; VANGL1
Cavernous malformations of CNS and retina; 116860; CCM1
CD59 deficiency; 612300; CD59
CD8 deficiency, familial; 608957; CD8A
Cenani–Lenz syndactyly syndrome; 212780; LRP4
Central core disease; 117000; RYR1
Central hypoventilation syndrome; 209880; GDNF
Central hypoventilation syndrome, congenital; 209880; ASCL1
Central hypoventilation syndrome, congenital; 209880; BDNF
Central hypoventilation syndrome, congenital; 209880; EDN3
Central hypoventilation syndrome, congenital; 209880; PMX2B
Central hypoventilation syndrome, congenital; 209880; RET
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; 613227; CA8
Cerebellar ataxia; 604290; CP
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; 224050; VLDLR
Cerebral amyloid angiopathy; 105150; CST3
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; 605714; APP
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; 125310; NOTCH3
Cerebral cavernous malformations 3; 603285; PDCD10
Cerebral cavernous malformations-1; 116860; CCM1
Cerebral cavernous malformations-2; 603284; C7orf22
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; 609528; SNAP29
Cerebral palsy, spastic quadriplegic, 3; 612936; AP4M1
Cerebral palsy, spastic quadriplegic; 612900; KANK1
Cerebral palsy, spastic, symmetric, autosomal recessive; 603513; GAD1
Cerebrocostomandibular-like syndrome; 611209; COG1
Cerebrooculofacioskeletal syndrome 1; 214150; ERCC6
Cerebrooculofacioskeletal syndrome 2; 610756; ERCC2
Cerebrooculofacioskeletal syndrome 4; 610758; ERCC1
Cerebrotendinous xanthomatosis; 213700; CYP27A1
Ceroid lipofuscinosis, neuronal 8; 600143; CLN8
Ceroid lipofuscinosis, neuronal, 10; 610127; CTSD
Ceroid lipofuscinosis, neuronal, 7; 610951; MFSD8
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; 610003; CLN8
Ceroid lipofuscinosis, neuronal 1, infantile; 256730; PPT1
Ceroid-lipofuscinosis, neuronal 2, classic late infantile; 204500; TPP1
Ceroid lipofuscinosis, neuronal 3, juvenile; 204200; CLN3
Ceroid-lipofuscinosis, neuronal-5, variant late infantile; 256731; CLN5
Ceroid-lipofuscinosis, neuronal-6, variant late infantile; 601780; CLN6
Cervical cancer, somatic; 603956; FGFR3
Chanarin–Dorfman syndrome; 275630; ABHD5
Char syndrome; 169100; TFAP2B
Charcot–Marie–Tooth disease, axonal, type 2F; 606595; HSPB1
Charcot–Marie–Tooth disease, axonal, type 2K; 607831; GDAP1
Charcot–Marie–Tooth disease, axonal, type 2L; 608673; HSPB8
Charcot–Marie–Tooth disease, axonal, type 2M; 606482; DNM2
Charcot–Marie–Tooth disease, axonal, type 2N; 613287; AARS
Charcot–Marie–Tooth disease, axonal, with vocal cord paresis; 607706; GDAP1
Charcot–Marie–Tooth disease, dominant intermediate 3; 607791; MPZ
Charcot–Marie–Tooth disease, dominant intermediate B; 606482; DNM2
Charcot–Marie–Tooth disease, dominant intermediate C; 608323; YARS
Charcot–Marie–Tooth disease, recessive intermediate, A; 608340; GDAP1
Charcot–Marie–Tooth disease, recessive intermediate, B; 613641; KARS
Charcot–Marie–Tooth disease type 1A; 118220; PMP22
Charcot–Marie–Tooth disease type 1B; 118200; MPZ
Charcot–Marie–Tooth disease type 1C; 601098; LITAF
Charcot–Marie–Tooth disease type 1D; 607678; EGR2
Charcot–Marie–Tooth disease type 1E; 118300; PMP22
Charcot–Marie–Tooth disease type 1F; 607734; NEFL
Charcot–Marie–Tooth disease type 2A1; 118210; KIF1B
Charcot–Marie–Tooth disease type 2A2; 609260; MFN2
Charcot–Marie–Tooth disease type 2B; 600882; RAB7
Charcot–Marie–Tooth disease type 2B1; 605588; LMNA
Charcot–Marie–Tooth disease type 2B2; 605589; MED25
Charcot–Marie–Tooth disease type 2D; 601472; GARS
Charcot–Marie–Tooth disease type 2E; 607684; NEFL
Charcot–Marie–Tooth disease type 2I; 607677; MPZ
Charcot–Marie–Tooth disease type 2J; 607736; MPZ
Charcot–Marie–Tooth disease type 4A; 214400; GDAP1
Charcot–Marie–Tooth disease type 4B1; 601382; MTMR2
Charcot–Marie–Tooth disease type 4B2; 604563; SBF2
Charcot–Marie–Tooth disease type 4C; 601596; SH3TC2
Charcot–Marie–Tooth disease type 4D; 601455; NDRG1
Charcot–Marie–Tooth disease type 4F; 145900; PRX
Charcot–Marie–Tooth disease type 4H; 609311; FGD4
Charcot–Marie–Tooth disease type 4J; 611228; FIG4
Charcot–Marie–Tooth disease, X-linked recessive, 5; 311070; PRPS1
Charcot–Marie–Tooth neuropathy, X-linked dominant, 1; 302800; GJB1
CHARGE syndrome; 214800; CHD7
CHARGE syndrome; 214800; SEMA3E
Chédiak–Higashi syndrome; 214500; CHS1
Cherubism; 118400; SH3BP2
Chilblain lupus; 610448; TREX1
CHILD syndrome; 308050; NSDHL
Chloride diarrhea, congenital, Finnish type; 214700; SLC26A3
Cholestasis, benign recurrent intrahepatic, 2; 605479; ABCB11
Cholestasis, benign recurrent intrahepatic; 243300; ATP8B1
Cholestasis, familial intrahepatic, of pregnancy; 147480; ABCB4
Cholestasis, progressive familial intrahepatic 1; 211600; ATP8B1
Cholestasis, progressive familial intrahepatic 2; 601847; ABCB11
Cholestasis, progressive familial intrahepatic 3; 602347; ABCB4
Cholestasis, progressive familial intrahepatic 4; 607765; HSD3B7
Cholesteryl ester storage disease; 278000; LIPA
Chondrocalcinosis 2; 118600; ANKH
Chondrodysplasia punctata, rhizomelic, type 2; 222765; GNPAT
Chondrodysplasia punctata, X-linked dominant; 302960; EBP
Chondrodysplasia punctata, X-linked recessive; 302950; ARSE
Chondrodysplasia, Blomstrand type; 215045; PTHR1
Chondrodysplasia, Grebe type; 200700; GDF5
Chondrosarcoma; 215300; EXT1
Chondrosarcoma, extraskeletal myxoid; 612237; TAF15
Chondrosarcoma, extraskeletal myxoid; 612237; TFG
Chondrosarcoma, extraskeletal myxoid; 612237; CSMF
Chorea, hereditary benign; 118700; NKX2-1
Choreoacanthocytosis; 200150; VPS13A
Choreoathetosis, hypothyroidism, and neonatal respiratory distress; 610978; NKX2-1
Choriodal dystrophy, central areolar 2,; 613105; PRPH2
Choroid plexus papilloma; 260500; TP53
Choroideremia; 303100; CHM
Chromosome 22q13.3 deletion syndrome; 606232; SHANK3
Chromosome 5q14.3 deletion syndrome; 613443; MEF2C
Chrondrodysplasia, acromesomelic, with genital anomalies; 609441; BMPR1B
Chronic granulomatous disease due to deficiency of NCF-1; 233700; NCF1
Chronic granulomatous disease due to deficiency of NCF-2; 233710; NCF2
Chronic granulomatous disease, autosomal, due to deficiency of CYBA; 233690; CYBA
Chronic granulomatous disease, X-linked; 306400; CYBB
Chylomicron retention disease; 246700; SAR1B
Ciliary dyskinesia, primary, 1, with or without situs inversus; 244400; DNAI1
Ciliary dyskinesia, primary, 10; 612518; KTU
Ciliary dyskinesia, primary, 11; 612649; RSPH4A
Ciliary dyskinesia, primary, 12; 612650; RSPH9
Ciliary dyskinesia, primary, 13; 613193; LRRC50
Ciliary dyskinesia, primary, 3, with or without situs inversus; 608644; DNAH5
Ciliary dyskinesia, primary, 6; 610852; TXNDC3
Ciliary dyskinesia, primary, 7, with or without situs inversus; 611884; DNAH11
Ciliary dyskinesia, primary, 9, with or without situs inversus; 612444; DNAI2
CINCA syndrome; 607115; NLRP3
Cirrhosis, North American Indian childhood type; 604901; CIRH1A
Citrullinemia; 215700; ASS1
Citrullinemia, adult-onset type II; 603471; SLC25A13
Citrullinemia, type II, neonatal-onset; 605814; SLC25A13
Cleft lip/palate-ectodermal dysplasia syndrome; 225060; HVEC
Cleft palate and mental retardation; 119540; SATB2
Cleft palate with ankyloglossia; 303400; TBX22
Cleft palate, isolated; 119540; UBB
Cleidocranial dysplasia; 119600; RUNX2
C-like syndrome; 605039; CD96
Clopidogrel, impaired responsiveness to; 609535; CYP2C
Clubfoot, congenital; 119800; PITX1
COACH syndrome; 216360; CC2D2A
COACH syndrome; 216360; RPGRIP1L
COACH syndrome; 216360; TMEM67
Cockayne syndrome type A; 216400; ERCC8
Cockayne syndrome type B; 133540; ERCC6
Cocoon syndrome; 613630; CHUK
Coenzyme Q10 deficiency; 607426; APTX
Coenzyme Q10 deficiency; 607426; CABC1
Coenzyme Q10 deficiency; 607426; COQ2
Coenzyme Q10 deficiency; 607426; COQ9
Coenzyme Q10 deficiency; 607426; PDSS1
Coenzyme Q10 deficiency; 607426; PDSS2
Coffin–Lowry syndrome; 303600; RPS6KA3
Cohen syndrome; 216550; COH1
Cold-induced autoinflammatory syndrome, familial; 120100; NLRP3
Cold-induced sweating syndrome 1; 610313; CLCF1
Cold-induced sweating syndrome; 272430; CRLF1
Coloboma of optic nerve; 120430; PAX6
Coloboma, ocular; 120200; PAX6
Coloboma, ocular; 120200; SHH
Colon cancer, somatic; 114500; PTPRJ
Colorblindness, deutan; 303800; OPN1MW
Colorblindness, tritan; 190900; OPN1SW
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; 132600; MUTYH
Colorectal cancer; 114500; AXIN2
Colorectal cancer; 114500; BUB1B
Colorectal cancer; 114500; EP300
Colorectal cancer; 114500; NRAS
Colorectal cancer; 114500; PDGFRL
Colorectal cancer; 114500; TP53
Colorectal cancer, hereditary nonpolyposis, type 1; 120435; MSH2
Colorectal cancer, hereditary nonpolyposis, type 2; 609310; MLH1
Colorectal cancer, hereditary nonpolyposis, type I; 613244; EPCAM
Colorectal cancer, somatic; 109800; FGFR3
Colorectal cancer, somatic; 114500; AKT1
Colorectal cancer, somatic; 114500; APC
Colorectal cancer, somatic; 114500; FLCN
Colorectal cancer, somatic; 114500; MLH3
Colorectal cancer, somatic; 114500; PIK3CA
Combined cellular and humoral immune defects with granulomas; 233650; RAG1
Combined cellular and humoral immune defects with granulomas; 233650; RAG2
Combined factor V and VIII deficiency; 227300; LMAN1
Combined hyperlipidemia, familial; 144250; LPL
Combined immunodeficiency, X-linked, moderate; 312863; IL2RG
Combined oxidative phosphorylation deficiency 1; 609060; GFM1
Combined oxidative phosphorylation deficiency 2; 610498; MRPS16
Combined oxidative phosphorylation deficiency 3; 610505; TSFM
Combined oxidative phosphorylation deficiency 4; 610678; TUFM
Combined oxidative phosphorylation deficiency 5; 611719; MRPS22
Combined oxidative phosphorylation deficiency 6; 300816; AIFM1
Combined SAP deficiency; 611721; PSAP
Complement component 4, partial deficiency of; 120790; C1NH
Complement factor H deficiency; 609814; HF1
Complement factor I deficiency; 610984; CFI
Complex I, mitochondrial respiratory chain, deficiency of; 252010; NDUFS6
Cone dystrophy 4; 613093; PDE6C
Cone dystrophy-3; 602093; GUCA1A
Cone–rod dystrophy 10; 610283; SEMA4A
Cone–rod dystrophy 11; 610381; RAXL1
Cone–rod dystrophy 12; 612657; PROM1
Cone–rod dystrophy 13; 608194; RPGRIP1
Cone–rod dystrophy 14; 602093; GUCA1A
Cone–rod dystrophy 15; 613660; CDHR1
Cone–rod dystrophy 3; 604116; ABCA4
Cone–rod dystrophy 5; 600977; PITPNM3
Cone–rod dystrophy; 601777; GUCY2D
Cone–rod dystrophy 7; 603649; RIMS1
Cone–rod dystrophy 9; 612775; ADAM9
Cone–rod dystrophy, X-linked, 3; 300476; CACNA1F
Cone–rod dystrophy-1; 304020; RPGR
Cone–rod retinal dystrophy-2; 120970; CRX
Congenital bilateral absence of vas deferens; 277180; CFTR
Congenital cataracts, facial dysmorphism, and neuropathy; 604168; CTDP1
Congenital disorder of glycosylation, type Ia; 212065; PMM2
Congenital disorder of glycosylation, type Ic; 603147; ALG6
Congenital disorder of glycosylation, type Id; 601110; ALG3
Congenital disorder of glycosylation, type Ie; 608799; DPM1
Congenital disorder of glycosylation, type If; 609180; MPDU1
Congenital disorder of glycosylation, type Ig; 607143; ALG12
Congenital disorder of glycosylation, type Ih; 608104; ALG8
Congenital disorder of glycosylation, type Ii; 607906; ALG2
Congenital disorder of glycosylation, type IIA; 212066; MGAT2
Congenital disorder of glycosylation, type IIb; 606056; GCS1
Congenital disorder of glycosylation type IIc; 266265; SLC35C1
Congenital disorder of glycosylation, type IId; 607091; B4GALT1
Congenital disorder of glycosylation, type IIe; 608779; COG7
Congenital disorder of glycosylation, type IIf; 603585; SLC35A1
Congenital disorder of glycosylation, type IIg; 611209; COG1
Congenital disorder of glycosylation, type IIh; 611182; COG8
Congenital disorder of glycosylation, type IIj; 613489; COG4
Congenital disorder of glycosylation, type Ij; 608093; DPAGT2
Congenital disorder of glycosylation, type Ik; 608540; ALG1
Congenital disorder of glycosylation, type Il; 608776; ALG9
Congenital disorder of glycosylation, type Im; 610768; TMEM15
Congenital disorder of glycosylation, type In; 612015; RFT1
Congenital disorder of glycosylation, type Io; 612937; DPM3
Congenital disorder of glycosylation, type Ip; 612379; SRD5A3
Congenital heart defects, nonsyndromic, 1, X-linked; 306955; ZIC3
Congenital heart disease, nonsyndromic, 2; 612863; TAB2
Conjunctivitis, ligneous; 217090; PLG
Conotruncal anomaly face syndrome; 217095; TBX1
Contractural arachnodactyly, congenital; 121050; FBN2
Convulsions, benign familial infantile, 3; 607745; SCN2A1
Convulsions, familial febrile, 4; 604352; GPR98
COPD, rate of decline of lung function in; 606963; MMP1
Coproporphyria; 121300; CPOX
Cornea plana congenita, recessive; 217300; KERA
Corneal dystrophy polymorphous posterior, 2; 609140; COL8A2
Corneal dystrophy, Avellino type; 607541; TGFBI
Corneal dystrophy, congenital stromal; 610048; DCN
Corneal dystrophy, crystalline, of Schnyder; 121800; UBIAD1
Corneal dystrophy, epithelial basement membrane; 121820; TGFBI
Corneal dystrophy, Fuchs endothelial, 1; 136800; COL8A2
Corneal dystrophy, Fuchs endothelial, 4; 613268; SLC4A11
Corneal dystrophy, Fuchs endothelial, 6; 613270; ZEB1
Corneal dystrophy, gelatinous drop-like; 204870; TACSTD2
Corneal dystrophy, Groenouw type I; 121900; TGFBI
Corneal dystrophy, hereditary polymorphous posterior; 122000; VSX1
Corneal dystrophy, lattice type I; 122200; TGFBI
Corneal dystrophy, lattice type IIIA; 608471; TGFBI
Corneal dystrophy, posterior polymorphous, 3; 609141; ZEB1
Corneal dystrophy, Reis-Bucklers type; 608470; TGFBI
Corneal dystrophy, Thiel-Behnke type; 602082; TGFBI
Corneal endothelial dystrophy 2; 217700; SLC4A11
Corneal endothelial dystrophy and perceptive deafness; 217400; SLC4A11
Corneal fleck dystrophy; 121850; PIKFYVE
Cornelia de Lange syndrome 1; 122470; NIPBL
Cornelia de Lange syndrome 2; 300590; DXS423E
Cornelia de Lange syndrome 3; 610759; CSPG6
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; 300472; IGBP1
Corpus callosum, partial agenesis of; 304100; L1CAM
Cortical dysplasia-focal epilepsy syndrome; 610042; CNTNAP2
Corticosteroid-binding globulin deficiency; 611489; CBG
Cortisone reductase deficiency; 604931; H6PD
Cortisone reductase deficiency; 604931; HSD11B1
Costello syndrome; 218040; HRAS
Coumarin resistance; 122700; CYP2A6
Cousin syndrome; 260660; TBX15
Cowden syndrome; 158350; PTEN
Cowden-like syndrome; 612359; SDHB
Cowden-like syndrome; 612359; SDHD
CPT deficiency, hepatic, type IA; 255120; CPT1A
CPT deficiency, hepatic, type II; 600649; CPT2
CPT II deficiency, lethal neonatal; 608836; CPT2
Cranioectodermal dysplasia; 218330; IFT122
Craniofacial-deafness-hand syndrome; 122880; PAX3
Craniofrontonasal dysplasia; 304110; EFNB1
Cranio-lenticulo-sutural dysplasia; 607812; SEC23A
Craniometaphyseal dysplasia; 123000; ANKH
Cranioosteoarthropathy; 259100; HPGD
Craniosynostosis, type 1; 123100; TWIST1
Craniosynostosis, type 2; 604757; MSX2
CRASH syndrome; 303350; L1CAM
Creatine deficiency syndrome, X-linked; 300352; SLC6A8
Creatine phosphokinase, elevated serum; 123320; CAV3
Creutzfeldt–Jakob disease; 123400; PRNP
Crigler–Najjar syndrome type I; 218800; UGT1A1
Crigler–Najjar syndrome type II; 606785; UGT1A1
Crisponi syndrome; 601378; CRLF1
Crouzon syndrome with acanthosis nigricans; 612247; FGFR3
Crouzon syndrome; 123500; FGFR2
Cryptorchidism, bilateral; 219050; LGR8
Cryptorchidism, idiopathic; 219050; INSL3
Currarino syndrome; 176450; MNX1
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; 613177; LTBP4
Cutis laxa, AD; 123700; ELN
Cutis laxa, autosomal dominant; 123700; FBLN5
Cutis laxa, autosomal recessive; 219100; FBLN5
Cutis laxa, autosomal recessive, type I; 219100; EFEMP2
Cutis laxa, autosomal recessive, type II; 219200; ATP6V0A2
Cutis laxa, autosomal recessive, type IIB; 612940; PYCR1
Cutis laxa, recessive, type I; 219100; LOX
Cylindromatosis, familial; 132700; CYLD1
Cystathioninuria; 219500; CTH
Cystic fibrosis; 219700; CFTR
Cystinosis, late-onset juvenile or adolescent nephropathic; 219900; CTNS
Cystinosis, nephropathic; 219800; CTNS
Cystinosis, ocular nonnephropathic; 219750; CTNS
Cystinuria; 220100; SLC3A1
Cystinuria; 220100; SLC7A9
Cytochrome C oxidase deficiency; 220110; COX6B1
D-2-hydroxyglutaric aciduria; 600721; D2HGDH
Dandy–Walker malformation; 220200; ZIC1
Dandy–Walker malformation; 220200; ZIC4
Darier disease; 124200; ATP2A2
Darsun syndrome; 612541; G6PC3
D-bifunctional protein deficiency; 261515; HSD17B4
De la Chapelle dysplasia; 256050; SLC26A2
De Sanctis–Cacchione syndrome; 278800; ERCC6
Deafness, autosomal dominant 1; 124900; DIAPH1
Deafness, autosomal dominant 10; 601316; EYA4
Deafness, autosomal dominant 11, neurosensory; 601317; MYO7A
Deafness, autosomal dominant 13; 601868; COL11A2
Deafness, autosomal dominant 15; 602459; POU4F3
Deafness, autosomal dominant 17; 603622; MYH9
Deafness, autosomal dominant 20/26; 604717; ACTG1
Deafness, autosomal dominant 22; 606346; MYO6
Deafness, autosomal dominant 23; 605192; SIX1
Deafness, autosomal dominant 25; 605583; SLC17A8
Deafness, autosomal dominant 28; 608641; GRHL2
Deafness, autosomal dominant 2A; 600101; KCNQ4
Deafness, autosomal dominant 2B; 612644; GJB3
Deafness, autosomal dominant 36; 606705; TMC1
Deafness, autosomal dominant 36, with dentinogenesis; 605594; DSPP
Deafness, autosomal dominant 3A; 601544; GJB2
Deafness, autosomal dominant 3B; 612643; GJB6
Deafness, autosomal dominant 4; 600652; MYH14
Deafness, autosomal dominant 44; 607453; CCDC50
Deafness, autosomal dominant 48; 607841; MYO1A
Deafness, autosomal dominant 5; 600994; DFNA5
Deafness, autosomal dominant 50; 613074; MIR96
Deafness, autosomal dominant 8/12; 601543; TECTA
Deafness, autosomal dominant 9; 601369; COCH
Deafness, autosomal recessive 10, congenital; 605316; TMPRSS3
Deafness, autosomal recessive 12; 601386; CDH23
Deafness, autosomal recessive 16; 603720; STRC
Deafness, autosomal recessive 18; 602092; USH1C
Deafness, autosomal recessive 1A; 220290; GJB2
Deafness, autosomal recessive 1B; 612645; GJB6
Deafness, autosomal recessive 2, neurosensory; 600060; MYO7A
Deafness, autosomal recessive 21; 603629; TECTA
Deafness, autosomal recessive 22; 607039; OTOA
Deafness, autosomal recessive 23; 609533; PCDH15
Deafness, autosomal recessive 25; 613285; GRXCR1
Deafness, autosomal recessive 28; 609823; TRIOBP
Deafness, autosomal recessive 3; 600316; MYO15A
Deafness, autosomal recessive 30; 607101; MYO3A
Deafness, autosomal recessive 31; 607084; WHRN
Deafness, autosomal recessive 35; 608565; ESRRB
Deafness, autosomal recessive 36; 609006; ESPN
Deafness, autosomal recessive 37; 607821; MYO6
Deafness, autosomal recessive 39; 608265; HGF
Deafness, autosomal recessive 49; 610153; MARVELD2
Deafness, autosomal recessive 53; 609706; COL11A2
Deafness, autosomal recessive 59; 610220; PJVK
Deafness, autosomal recessive 6; 600971; TMIE
Deafness, autosomal recessive 63; 611451; LRTOMT
Deafness, autosomal recessive 67; 610265; LHFPL5
Deafness, autosomal recessive 7; 600974; TMC1
Deafness, autosomal recessive 77; 613079; LOXHD1
Deafness, autosomal recessive 79; 613307; TPRN
Deafness, autosomal recessive 8, childhood onset; 601072; TMPRSS3
Deafness, autosomal recessive 84; 613391; PTPRQ
Deafness, autosomal recessive 9; 601071; OTOF
Deafness, autosomal recessive 91; 613453; SERPINB6
Deafness, autosomal recessive, 24; 611022; RDX
Deafness, congenital with inner ear agenesis, microtia, and microdontia; 610706; FGF3
Deafness, digenic GJB2/GJB6; 220290; GJB6
Deafness, digenic, GJB2/GJB3; 220290; GJB3
Deafness, sensorineural, with hypertrophic cardiomyopathy; 606346; MYO6
Deafness, X-linked 1; 304500; PRPS1
Deafness, X-linked 2; 304400; POU3F4
Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema; 603528; PIEZO1
Dejerine–Sottas disease; 145900; PMP22
Dejerine–Sottas neuropathy; 145900; EGR2
Dejerine–Sottas neuropathy, autosomal recessive; 145900; PRX
Dejerine–Sottas syndrome; 145900; MPZ
Dementia, familial British; 176500; ITM2B
Dementia, familial Danish; 117300; ITM2B
Dementia, familial, nonspecific; 600795; CHMP2B
Dementia, frontotemporal; 600274; PSEN1
Dementia, frontotemporal, with or without parkinsonism; 600274; MAPT
Dementia, Lewy body; 127750; SNCA
Dementia, Lewy body; 127750; SNCB
Dent's disease 2; 300555; OCRL
Dent's disease; 300009; CLCN5
Dentatorubr–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
Dicarboxylic aminoaciduria; 222730; SLC1A1
DiGeorge syndrome; 188400; TBX1
Digital clubbing, isolated congenital; 119900; HPGD
Dihydropyrimidine dehydrogenase deficiency; 274270; DPYD
Dihydropyrimidinuria; 222748; DPYS
Dilated cardiomyopathy with woolly hair and keratoderma; 605676; DSP
Dimethylglycine dehydrogenase deficiency; 605850; DMGDH
Disordered steroidogenesis, isolated; 201750; POR
Donnai–Barrow syndrome; 222448; LRP2
Dopamine beta-hydroxylase deficiency; 223360; DBH
Dosage-sensitive sex reversal; 300018; DAX1
Double outlet right ventricle; 217095; CFC1
Double outlet right ventricle; 217095; GDF1
Dowling–Degos disease; 179850; KRT5
Doyne honeycomb degeneration of retina; 126600; EFEMP1
Dravet syndrome; 607208; SCN1A
Duane retraction syndrome 2; 604356; CHN1
Duane-radial ray syndrome; 607323; SALL4
Dubin–Johnson syndrome; 237500; ABCC2
Duchenne muscular dystrophy; 310200; DMD
Dyggve–Melchior–Clausen disease; 223800; DYM
Dysautonomia, familial; 223900; IKBKAP
Dyschromatosis symmetrica hereditaria; 127400; ADAR
Dyserythropoietic anemia with thrombocytopenia; 300367; GATA1
Dyskeratosis congenita; 127550; TERT
Dyskeratosis congenita; 224230; NOLA2
Dyskeratosis congenita, autosomal dominant; 127550; TERC
Dyskeratosis congenita, autosomal dominant; 127550; TINF2
Dyskeratosis congenita, autosomal recessive; 224230; NOLA3
Dyskeratosis congenita-1; 305000; DKC1
Dyssegmental dysplasia, Silverman-Handmaker type; 224410; HSPG2
Dystonia 16; 612067; PRKRA
Dystonia 6, torsion; 602629; THAP1
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; 612716; SPR
Dystonia, DOPA-responsive, with or without hyperphenylalainemia; 233910; GCH1
Dystonia, juvenile-onset; 607371; ACTB
Dystonia, myoclonic; 159900; DRD2
Dystonia-1, torsion; 128100; DYT1
Dystonia-11, myoclonic; 159900; SGCE
Dystonia-12; 128235; ATP1A3
Dystonia-parkinsonism, adult-onset; 612953; PLA2G6
Dystonia-Parkinsonism, X-linked; 314250; TAF1
EBD inversa; 226600; COL7A1
EBD, Bart type; 132000; COL7A1
Ectodermal dysplasia, anhidrotic, autosomal dominant; 129490; EDARADD
Ectodermal dysplasia, anhidrotic, autosomal recessive; 224900; EDARADD
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency; 612132; NFKBIA
Ectodermal dysplasia, anhidrotic, X-linked; 305100; ED1
Ectodermal dysplasia, ectrodactyly, and macular dystrophy; 225280; CDH3
Ectodermal dysplasia, hidrotic; 129500; GJB6
Ectodermal dysplasia, hypohidrotic, autosomal dominant; 129490; EDAR
Ectodermal dysplasia, hypohidrotic, autosomal recessive; 224900; EDAR
Ectodermal dysplasia, hypohidrotic, with immune deficiency; 300291; IKBKG
Ectodermal dysplasia, 'pure' hair-nail type; 602032; KRT85
Ectodermal dysplasia-skin fragility syndrome; 604536; PKP1
Ectodermal dysplasia-syndactyly syndrome 1; 613573; PVRL4
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency; 300301; IKBKG
Ectopia lentis, familial; 129600; FBN1
Ectopia lentis, isolated, autosomal recessive; 225100; ADAMTSL4
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; 604292; TP63
Ehlers–Danlos due to tenascin X deficiency; 606408; TNXB
Ehlers–Danlos syndrome, cardiac valvular form; 225320; COL1A2
Ehlers–Danlos syndrome, hypermobility type; 130020; TNXB
Ehlers-Danlos syndrome, musculocontractural type; 601776; CHST14
Ehlers–Danlos syndrome, progeroid form; 130070; B4GALT7
Ehlers–Danlos syndrome, type I; 130000; COL1A1
Ehlers–Danlos syndrome, type I; 130000; COL5A1
Ehlers–Danlos syndrome, type I; 130000; COL5A2
Ehlers–Danlos syndrome, type II; 130010; COL5A1
Ehlers–Danlos syndrome, type III; 130020; COL3A1
Ehlers–Danlos syndrome, type IV; 130050; COL3A1
Ehlers–Danlos syndrome, type VI; 225400; PLOD
Ehlers–Danlos syndrome, type VIIA; 130060; COL1A1
Ehlers–Danlos syndrome, type VIIB; 130060; COL1A2
Ehlers–Danlos syndrome, type VIIC; 225410; ADAMTS2
Eiken syndrome; 600002; PTHR1
Elliptocytosis-1; 611804; EPB41
Elliptocytosis-2; 130600; SPTA1
Ellis–van Creveld syndrome; 225500; EVC
Ellis–van Creveld syndrome; 225500; LBN
Emery–Dreifuss muscular dystrophy 4; 612998; SYNE1
Emery–Dreifuss muscular dystrophy 5; 612999; SYNE2
Emery–Dreifuss muscular dystrophy 6; 300696; FHL1
Emery–Dreifuss muscular dystrophy; 310300; EMD
Emery–Dreifuss muscular dystrophy, AD; 181350; LMNA
Emery–Dreifuss muscular dystrophy, AR; 181350; LMNA
Emphysema due to AAT deficiency; 613490; SERPINA1
Emphysema-cirrhosis, due to AAT deficiency; 613490; SERPINA1
Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency; 604273; TMEM70
Encephalopathy, familial, with neuroserpin inclusion bodies; 604218; SERPINI1
Encephalopathy, neonatal severe; 300673; MECP2
Endocrine-cerebroosteodysplasia; 612651; ICK
Endometrial cancer; 608089; MLH3
Endometrial cancer, familial; 608089; MSH6
Endplate acetylcholinesterase deficiency; 603034; COLQ
Enhanced S-cone syndrome; 268100; NR2E3
Enlarged vestibular aqueduct; 600791; FOXI1
Enlarged vestibular aqueduct; 600791; SLC26A4
Enterokinase deficiency; 226200; PRSS7
Eosinophil peroxidase deficiency; 261500; EPX
Epidermodysplasia verruciformis; 226400; TMC6
Epidermodysplasia verruciformis; 226400; TMC8
Epidermolysis bullosa dystrophica, AD; 131750; COL7A1
Epidermolysis bullosa dystrophica, AR; 226600; COL7A1
Epidermolysis bullosa of hands and feet; 131800; ITGB4
Epidermolysis bullosa pruriginosa; 604129; COL7A1
Epidermolysis bullosa simplex with migratory circinate erythema; 609352; KRT5
Epidermolysis bullosa simplex with mottled pigmentation; 131960; KRT5
Epidermolysis bullosa simplex with pyloric atresia; 612138; PLEC1
Epidermolysis bullosa simplex, Dowling-Meara type; 131760; KRT14
Epidermolysis bullosa simplex, Dowling-Meara type; 131760; KRT5
Epidermolysis bullosa simplex, Koebner type; 131900; KRT14
Epidermolysis bullosa simplex, Koebner type; 131900; KRT5
Epidermolysis bullosa simplex, Ogna type; 131950; PLEC1
Epidermolysis bullosa simplex, recessive; 601001; KRT14
Epidermolysis bullosa simplex, Weber-Cockayne type; 131800; KRT14
Epidermolysis bullosa simplex, Weber-Cockayne type; 131800; KRT5
Epidermolysis bullosa, generalized atrophic benign; 226650; LAMA3
Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMA3
Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMB3
Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMC2
Epidermolysis bullosa, junctional, non-Herlitz type; 226650; COL17A1
Epidermolysis bullosa, junctional, non-Herlitz type; 226650; ITGB4
Epidermolysis bullosa, junctional, non-Herlitz type; 226650; LAMB3
Epidermolysis bullosa, junctional, non-Herlitz type; 226650; LAMC2
Epidermolysis bullosa, junctional, with pyloric atresia; 226730; ITGB4
Epidermolysis bullosa, junctional, with pyloric stenosis; 226730; ITGA6
Epidermolysis bullosa, lethal acantholytic; 609638; DSP
Epidermolysis bullosa, pretibial; 131850; COL7A1
Epidermolytic hyperkeratosis; 113800; KRT1
Epidermolytic hyperkeratosis; 113800; KRT10
Epidermolytic palmoplantar keratoderma; 144200; KRT9
Epilepsy, benign neonatal, type 2; 121201; KCNQ3
Epilepsy, benign, neonatal, type 1; 121200; KCNQ2
Epilepsy, female-restricted, with mental retardation; 300088; PCDH19
Epilepsy, generalized, with febrile seizures plus, type 2; 604233; SCN1A
Epilepsy, generalized, with febrile seizures plus, type 3; 604233; GABRG2
Epilepsy, juvenile myoclonic, susceptibility to; 613060; GABRD
Epilepsy, myoclonic, Lafora type; 254780; EPM2A
Epilepsy, myoclonic, Lafora type; 254780; NHLRC1
Epilepsy, myoclonic, with mental retardation and spasticity; 300432; ARX
Epilepsy, neonatal myoclonic, with suppression-burst pattern; 609304; SLC25A22
Epilepsy, nocturnal frontal lobe, 1; 600513; CHRNA4
Epilepsy, nocturnal frontal lobe, 3; 605375; CHRNB2
Epilepsy, nocturnal frontal lobe, type 4; 610353; CHRNA2
Epilepsy, partial, with auditory features; 600512; LGI1
Epilepsy, progressive myoclonic 1; 254800; CSTB
Epilepsy, progressive myoclonic 1B; 612437; PRICKLE1
Epilepsy, progressive myoclonic 2B; 254780; NHLRC1
Epilepsy, progressive myoclonic 3; 611726; KCTD7
Epilepsy, pyridoxine-dependent; 266100; ALDH7A1
Epilepsy, severe myoclonic, of infancy; 607208; SCN1A
Epilepsy, X-linked, with variable learning disabilities and behavior disorders; 300491; SYN1
Epileptic encephalopathy, early infantile, 1; 308350; ARX
Epileptic encephalopathy, early infantile, 2; 300672; CDKL5
Epileptic encephalopathy, early infantile, 4; 612164; STXBP1
Epileptic encephalopathy, early infantile, 5; 613477; SPTAN1
Epileptic encephalopathy, Lennox-Gastaut type; 606369; MAPK10
Epiphyseal dysplasia, multiple 1; 132400; COMP
Epiphyseal dysplasia, multiple, 2; 600204; COL9A2
Epiphyseal dysplasia, multiple, 3; 600969; COL9A3
Epiphyseal dysplasia, multiple, 4; 226900; SLC26A2
Epiphyseal dysplasia, multiple, 5; 607078; MATN3
Epiphyseal dysplasia, multiple, with myopia and deafness; 132450; COL2A1
Episodic ataxia, type 2; 108500; CACNA1A
Episodic ataxia, type 6; 612656; SLC1A3
Episodic ataxia/myokymia syndrome; 160120; KCNA1
Epstein syndrome; 153650; MYH9
Erythermalgia, primary; 133020; SCN9A
Erythrocyte lactate transporter defect; 245340; SLC16A1
Erythrocytosis, familial, 3; 609820; EGLN1
Erythrocytosis, familial, 4; 611783; EPAS1
Erythrokeratodermia variabilis et progressiva; 133200; GJB3
Erythrokeratodermia variabilis with erythema gyratum repens; 133200; GJB4
Escobar syndrome; 265000; CHRNG
Esophageal cancer; 133239; DLEC1
Esophageal cancer, somatic; 133239; TGFBR2
Esophageal carcinoma, somatic; 133239; RNF6
Esophageal squamous cell carcinoma; 133239; 40513
Esophageal squamous cell carcinoma; 133239; LZTS1
Esophageal squamous cell carcinoma; 133239; WWOX
Ethylmalonic encephalopathy; 602473; ETHE1
Ewing sarcoma; 612219; EWSR1
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; 612714; COX4I2
Exostoses, multiple, type 1; 133700; EXT1
Exostoses, multiple, type 2; 133701; EXT2
Exudative vitreoretinopathy 4; 601813; LRP5
Exudative vitreoretinopathy 5; 613310; TSPAN12
Exudative vitreoretinopathy; 133780; FZD4
Exudative vitreoretinopathy, X-linked; 305390; NDP
Fabry disease; 301500; GLA
Fabry disease, cardiac variant; 301500; GLA
Factor V and factor VIII, combined deficiency of; 227300; MCFD2
Factor V deficiency; 227400; F5
Factor XI deficiency, autosomal dominant; 612416; F11
Factor XI deficiency, autosomal recessive; 612416; F11
Factor XII deficiency; 234000; F12
Factor XIIIA deficiency; 613225; F13A1
Factor XIIIB deficiency; 613235; F13B
Failure of tooth eruption, primary; 125350; PTHR1
Familial cold autoinflammatory syndrome 2; 611762; NALP12
Familial Mediterranean fever, AD; 134610; MEFV
Familial Mediterranean fever, AR; 249100; MEFV
Fanconi anemia, complementation group 0; 613390; RAD51C
Fanconi anemia, complementation group A; 227650; FANCA
Fanconi anemia, complementation group B; 300514; FAAP95
Fanconi anemia, complementation group D1; 605724; BRCA2
Fanconi anemia, complementation group I; 609053; FANCI
Fanconi anemia, complementation group J; 609054; BRIP1
Fanconi anemia, complementation group N; 610832; PALB2
Fanconi renotubular syndrome 2; 613388; SLC34A1
Fanconi–Bickel syndrome; 227810; SLC2A2
Farber lipogranulomatosis; 228000; ASAH1
Fatty liver, acute, of pregnancy; 609016; HADHA
Febrile convulsions, familial, 3A; 604403; SCN1A
Febrile convulsions, familial, 3B; 604403; SCN9A
Febrilel, convulsions, familial; 611277; GABRG2
Fechtner syndrome; 153640; MYH9
Feingold syndrome; 164280; MYCN
Fertile eunuch syndrome; 228300; GNRHR
Fetal akinesia deformation sequence; 208150; DOK7
Fetal akinesia deformation sequence; 208150; RAPSN
Fetal hemoglobin quantitative trait locus 1; 141749; HBG1
Fetal hemoglobin quantitative trait locus 1; 141749; HBG2
FG syndrome 2; 300321; FLNA
FG syndrome 4; 300422; CASK
Fibrodysplasia ossificans progressiva; 135100; ACVR1
Fibromatosis, gingival; 135300; SOS1
Fibromatosis, gingival, 2; 135300; GINGF2
Fibromatosis, juvenile hyaline; 228600; ANTXR2
Fibrosis of extraocular muscles, congenital, 1; 135700; KIF21A
Fibrosis of extraocular muscles, congenital, 2; 602078; PHOX2A
Fibrosis of extraocular muscles, congenital, 3A; 600638; TUBB3
Fibrosis of extraocular muscles, congenital, 3B; 135700; KIF21A
Fibular hypoplasia and complex brachydactyly; 228900; GDF5
Fish-eye disease; 136120; LCAT
Fletcher factor deficiency; 612423; KLKB1
Focal cortical dysplasia, Taylor balloon cell type; 607341; TSC1
Focal dermal hypoplasia; 305600; PORCN
Folate malabsorption, hereditary; 229050; SLC46A1
Follicle-stimulating hormone deficiency, isolated; 229070; FSHB
Foveal hyperplasia; 136520; PAX6
Foveomacular dystrophy, adult-onset, with choroidal neovascularization; 608161; PRPH2
Fragile X syndrome; 300624; FMR1
Fragile X tremor/ataxia syndrome; 300623; FMR1
Frank–ter Haar syndrome; 249420; SH3PXD2B
Fraser syndrome; 219000; FRAS1
Fraser syndrome; 219000; FREM2
Frasier syndrome; 136680; WT1
Friedreich's ataxia with retained reflexes; 229300; FXN
Friedreich's ataxia; 229300; FXN
Frontometaphyseal dysplasia; 305620; FLNA
Frontonasal dysplasia 2; 613451; ALX4
Frontonasal dysplasia 3; 613456; ALX1
Frontorhiny; 136760; ALX3
Frontotemporal lobar degeneration with ubiquitin-positive inclusions; 607485; GRN
Frontotemporal lobar degeneration, TARDBP-related; 612069; TARDBP
Fructose intolerance; 229600; ALDOB
Fructose-1,6-bisphosphatase deficiency; 229700; FBP1
Fucosidosis; 230000; FUCA1
Fuhrmann syndrome; 228930; WNT7A
Fumarase deficiency; 606812; FH
Fundus albipunctatus; 136880; RDH5
Fundus albipunctatus; 136880; RLBP1
Fundus flavimaculatus; 248200; ABCA4
GABA-transaminase deficiency; 613163; ABAT
Galactokinase deficiency with cataracts; 230200; GALK1
Galactose epimerase deficiency; 230350; GALE
Galactosemia; 230400; GALT
Galactosialidosis; 256540; CTSA
Gallbladder disease 1; 600803; ABCB4
Gallbladder disease 4; 611465; ABCG8
GAMT deficiency; 612736; GAMT
Gastric cancer, familial diffuse; 137215; CDH1
Gastric cancer, somatic; 137215; APC
Gastric cancer, somatic; 137215; CASP10
Gastric cancer, somatic; 137215; ERBB2
Gastric cancer, somatic; 137215; FGFR2
Gastric cancer, somatic; 137215; IRF1
Gastric cancer, somatic; 137215; KLF6
Gastric cancer, somatic; 137215; MUTYH
Gastric cancer, somatic; 137215; PIK3CA
Gastrointestinal stromal tumor, somatic; 606764; KIT
Gastrointestinal stromal tumor, somatic; 606764; PDGFRA
Gaucher disease, atypical; 610539; PSAP
Gaucher disease, perinatal lethal; 608013; GBA
Gaucher disease, type; 230800; GBA
Gaucher disease, type II; 230900; GBA
Gaucher disease, type III; 231000; GBA
Gaucher disease, type IIIC; 231005; GBA
Gaze palsy, horizontal, with progressive scoliosis; 607313; ROBO3
Geleophysic dysplasia; 231050; ADAMTSL2
Generalized epilepsy and paroxysmal dyskinesia; 609446; KCNMA1
Generalized epilepsy with febrile seizures plus; 604233; SCN1B
Germ cell tumors; 273300; KIT
Geroderma osteodysplasticum; 231070; SCYL1BP1
Gerstmann–Sträussler–Scheinker syndrome; 137440; PRNP
Ghosal syndrome; 231095; TBXAS1
Giant axonal neuropathy-1; 256850; GAN
Gillespie syndrome; 206700; PAX6
Gitelman syndrome; 263800; SLC12A3
Glanzmann thrombasthenia, type A; 273800; ITGA2B
Glaucoma 1, open angle, 1O; 613100; NTF4
Glaucoma 1, open angle, E; 137760; OPTN
Glaucoma 1, open angle, G; 609887; WDR36
Glaucoma 1A, primary open angle, juvenile-onset; 137750; MYOC
Glaucoma 1B, primary open angle, adult onset; 137760; GLC1B
Glaucoma 3, primary congenital, D; 613086; LTBP2
Glaucoma 3A, primary congenital; 231300; CYP1B1
Glaucoma, primary open angle, adult-onset; 137760; CYP1B1
Glaucoma, primary open angle, juvenile-onset; 137750; CYP1B1
Glioblastoma, somatic; 137800; ERBB2
Globozoospermia; 102530; GOPC
Globozoospermia; 102530; SPATA16
Glomerulocystic kidney disease with hyperuricemia and isosthenuria; 609886; UMOD
Glomerulopathy with fibronectin deposits 2; 601894; FN1
Glomerulosclerosis, focal segmental, 1; 603278; ACTN4
Glomerulosclerosis, focal segmental, 2; 603965; TRPC6
Glomerulosclerosis, focal segmental, 3; 607832; CD2AP
Glomerulosclerosis, focal segmental, 5; 613237; INF2
Glomuvenous malformations; 138000; GLML
Glucocorticoid deficiency 2; 607398; MRAP
Glucocorticoid deficiency, due to ACTH unresponsiveness; 202200; MC2R
Glucose-galactose malabsorption; 606824; SLC5A1
GLUT1 deficiency syndrome 1; 606777; SLC2A1
GLUT1 deficiency syndrome 2; 612126; SLC2A1
Glutamate formiminotransferase deficiency; 229100; FTCD
Glutamine deficiency, congenital; 610015; GLUL
Glutaricaciduria, type I; 231670; GCDH
Glutaricaciduria, type IIA; 231680; ETFA
Glutaricaciduria, type IIB; 231680; ETFB
Glutaricaciduria, type IIC; 231680; ETFDH
Glutathione synthetase deficiency; 266130; GSS
Glycerol kinase deficiency; 307030; GK
Glycine encephalopathy; 605899; AMT
Glycine encephalopathy; 605899; GCSH
Glycine encephalopathy; 605899; GLDC
Glycine N-methyltransferase deficiency; 606664; GNMT
Glycogen storage disease 0, muscle; 611556; GYS1
Glycogen storage disease Ib; 232220; SLC37A4
Glycogen storage disease Ic; 232240; SLC37A4
Glycogen storage disease Ic; 232240; SLC17A3
Glycogen storage disease II; 232300; GAA
Glycogen storage disease IIb; 300257; LAMP2
Glycogen storage disease IIIa; 232400; AGL
Glycogen storage disease IIIb; 232400; AGL
Glycogen storage disease IV; 232500; GBE1
Glycogen storage disease IXc; 613027; PHKG2
Glycogen storage disease of heart, lethal congenital; 261740; PRKAG2
Glycogen storage disease VII; 232800; PFKM
Glycogen storage disease X; 261670; PGAM2
Glycogen storage disease XI; 612933; LDHA
Glycogen storage disease XII; 611881; ALDOA
Glycogen storage disease XIII; 612932; ENO3
Glycogen storage disease XIV; 612934; PGM1
Glycogen storage disease XV; 613507; GYG1
Glycogen storage disease type 0; 240600; GYS2
Glycogen storage disease, type IXa1; 306000; PHKA2
Glycogen storage disease, type IXa2; 306000; PHKA2
Glycosylphosphatidylinositol deficiency; 610293; PIGM
GM1-gangliosidosis, type I; 230500; GLB1
GM1-gangliosidosis, type II; 230600; GLB1
GM1-gangliosidosis, type III; 230650; GLB1
GM2-gangliosidosis, AB variant; 272750; GM2A
GM2-gangliosidosis, several forms; 272800; HEXA
Gnathodiaphyseal dysplasia; 166260; ANO5
Goldberg–Shpritzen megacolon syndrome; 609460; KIAA1279
Gout, PRPS-related; 300661; PRPS1
GRACILE syndrome; 603358; BCS1L
Greenberg dysplasia; 215140; LBR
Greig cephalopolysyndactyly syndrome; 175700; GLI3
Griscelli syndrome type 1; 214450; MYO5A
Griscelli syndrome type 2; 607624; RAB27A
Griscelli syndrome type 3; 609227; MLPH
Growth hormone deficiency with pituitary anomalies; 182230; HESX1
Growth hormone deficiency, isolated, type IA; 262400; GH1
Growth hormone deficiency, isolated, type IB; 612781; GH1
Growth hormone deficiency, isolated, type IB; 612781; GHRHR
Growth hormone deficiency, isolated, type II; 173100; GH1
Growth hormone insensitivity with immunodeficiency; 245590; STAT5B
Growth retardation with deafness and mental retardation due to IGF1 deficiency; 608747; IGF1
Growth retardation, developmental delay, coarse facies, and early death; 612938; FTO
Guttmacher syndrome; 176305; HOXA13
Gyrate atrophy of choroid and retina with or without ornithinemia; 258870; OAT
Haddad syndrome; 209880; ASCL1
Hailey–Hailey disease; 169600; ATP2C1
Haim–Munk syndrome; 245010; CTSC
Hallermann–Streiff syndrome; 234100; GJA1
Hand-foot-uterus Syndrome; 140000; HOXA13
Harderoporphyria; 121300; CPOX
HARP syndrome; 607236; PANK2
Hartnup disorder; 234500; SLC6A19
Hawkinsinuria; 140350; HPD
Hay–Wells syndrome; 106260; TP63
HDL deficiency, type 2; 604091; ABCA1
Hearing loss, low-frequency sensorineural; 600965; WFS1
Heart block, nonprogressive; 113900; SCN5A
Heart block, progressive, type IA; 113900; SCN5A
Heinz body anemia; 140700; HBA2
Heinz body anemias, alpha-; 140700; HBA1
Heinz body anemias, beta-; 140700; HBB
HELLP syndrome, maternal, of pregnancy; 609016; HADHA
Hemangioma, capillary infantile, somatic; 602089; FLT4
Hemangioma, capillary infantile, somatic; 602089; KDR
Hematopoiesis, cyclic; 162800; ELANE
Hematuria, benign familial; 141200; COL4A3
Hemiplegic migraine, familial; 141500; CACNA1A
Hemochromatosis, type 2A; 602390; HJV
Hemochromatosis, type 2B; 613313; HAMP
Hemochromatosis, type 3; 604250; TFR2
Hemochromatosis, type 4; 606069; SLC40A1
Hemolytic anemia due to adenylate kinase deficiency; 612631; AK1
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; 230450; GCLC
Hemolytic anemia due to glutathione synthetase deficiency; 231900; GSS
Hemolytic anemia due to hexokinase deficiency; 235700; HK1
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; 613470; GPI
Hemolytic uremic syndrome, atypical, susceptibility to, 1; 235400; HF1
Hemophagocytic lymphohistiocytosis, familial, 2; 603553; PRF1
Hemophagocytic lymphohistiocytosis, familial, 3; 608898; UNC13D
Hemophagocytic lymphohistiocytosis, familial, 4; 603552; STX11
Hemophilia B; 306900; F9
Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh; 613490; SERPINA1
Hemosiderosis, systemic, due to aceruloplasminemia; 604290; CP
Hennekam lymphangiectasia-lymphedema syndrome; 235510; CCBE1
Hepatic adenoma; 142330; HNF1A
Hepatic venoocclusive disease with immunodeficiency; 235550; SP110
Hepatocellular cancer; 114550; PDGFRL
Hepatocellular carcinoma; 114550; CTNNB1
Hepatocellular carcinoma; 114550; TP53
Hepatocellular carcinoma, childhood type; 114550; MET
Hepatocellular carcinoma, somatic; 114550; AXIN1
Hepatocellular carcinoma, somatic; 114550; CASP8
Hepatocellular carcinoma, somatic; 114550; PIK3CA
Hereditary hemorrhagic telangiectasia-1; 187300; ENG
Hereditary hemorrhagic telangiectasia-2; 600376; ACVRL1
Hereditary motor and sensory neuropathy VI; 601152; MFN2
Hereditary motor and sensory neuropathy, type IIc; 606071; TRPV4
Hermansky–Pudlak syndrome 1; 203300; HPS1
Hermansky–Pudlak syndrome 2; 608233; AP3B1
Hermansky–Pudlak syndrome 3; 203300; HPS3
Hermansky–Pudlak syndrome 4; 203300; HPS4
Hermansky–Pudlak syndrome 5; 203300; HPS5
Hermansky–Pudlak syndrome 6; 203300; HPS6
Hermansky–Pudlak syndrome 7; 203300; DTNBP1
Hermansky–Pudlak syndrome 8; 203300; BLOC1S3
Heterotaxy, visceral, 1, S-linke; 306955; ZIC3
Heterotaxy, visceral, 2, autosomal; 605376; CFC1
Heterotaxy, visceral, 5; 270100; NODAL
Heterotopia, periventricular; 300049; FLNA
Heterotopia, periventricular, ED variant; 300537; FLNA
Hirschsprung's disease; 142623; GDNF
Hirschsprung's disease; 142623; RET
Hirschsprung disease, short-segment; 142623; PMX2B
Histiocytoma, angiomatoid fibrous, somatic; 612160; CREB1
HMG-CoA synthase-2 deficiency; 605911; HMGCS2
Hodgkin's 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's disease; 143100; HTT
Huntington disease-like 1; 603218; PRNP
Huntington disease-like 2; 606438; JPH3
Hutchinson–Gilford progeria syndrome; 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-coenzyme A 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 persistence/nonpersistence; 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
Léri–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–Sjögren syndrome; 248800; SIL1
Maroteaux–Lamy syndrome, several forms; 253200; ARSB
Marshall syndrome; 154780; COL11A1
Martsolf syndrome; 212720; RAB3GAP2
MASA syndrome; 303350; L1CAM
MASS syndrome; 604308; FBN1
Mast syndrome; 248900; ACP33
Maturity-onset diabetes of the young 6; 606394; NEUROD1
Maturity-onset diabetes of the young, type 10; 613370; INS
Maturity-onset diabetes of the young, type 11; 613375; BLK
Maturity-onset diabetes of the young, type IX; 612225; PAX4
Maturity-onset diabetes of the young, type VII; 610508; KLF11
Maturity-onset diabetes of the young, type VIII; 609812; CEL
May–Hegglin anomaly; 155100; MYH9
McArdle disease; 232600; PYGM
McCune–Albright syndrome; 174800; GNAS
McKusick–Kaufman syndrome; 236700; MKKS
Meacham syndrome; 608978; WT1
Meckel syndrome 7; 267010; NPHP3
Meckel syndrome type 4; 611134; CEP290
Meckel syndrome, type 1; 249000; MKS1
Meckel syndrome, type 3; 607361; TMEM67
Meckel syndrome, type 5; 611561; RPGRIP1L
Meckel syndrome, type 6; 612284; CC2D2A
Medullary cystic kidney disease 2; 603860; UMOD
Medullary thyroid carcinoma; 155240; RET
Medullary thyroid carcinoma, familial; 155240; NTRK1
Medulloblastoma; 155255; PTCH2
Medulloblastoma, desmoplastic; 155255; SUFU
Meesmann corneal dystrophy; 122100; KRT12
Meesmann corneal dystrophy; 122100; KRT3
Megalencephalic leukoencephalopathy with subcortical cysts; 604004; MLC1
Megaloblastic anemia-1, Finnish type; 261100; CUBN
Megaloblastic anemia-1, Norwegian type; 261100; AMN
Melanoma and neural system tumor syndrome; 155755; CDKN2A
Melanoma; 609048; CDK4
Melanoma, cutaneous malignant, 2; 155601; CDKN2A
Meleda disease; 248300; SLURP1
Melnick–Needles syndrome; 309350; FLNA
Melorheostosis with osteopoikilosis; 155950; LEMD3
Membranoproliferative glomerulonephritis with CFH deficiency; 609814; HF1
Meningioma; 607174; MN1
Meningioma, NF2-related, somatic; 607174; NF2
Menkes disease; 309400; ATP7A
Mental retardation and microcephaly with pontine and cerebellar hypoplasia; 300749; CASK
Mental retardation in cri-du-chat syndrome; 123450; CTNND2
Mental retardation syndrome, X-linked, Cabezas type; 300354; CUL4B
Mental retardation syndrome, X-linked, Siderius type; 300263; PHF8
Mental retardation, autosomal dominant 1; 156200; MBD5
Mental retardation, autosomal dominant 3; 612580; CDH15
Mental retardation, autosomal dominant 4; 612581; KIRREL3
Mental retardation, autosomal dominant 5; 612621; SYNGAP
Mental retardation, autosomal recessive 1; 249500; PRSS12
Mental retardation, autosomal recessive 13; 613192; TRAPPC9
Mental retardation, autosomal recessive 2A; 607417; CRBN
Mental retardation, autosomal recessive 3; 608443; CC2D1A
Mental retardation, autosomal recessive 7; 611093; TUSC3
Mental retardation, autosomal recessive, 6; 611092; GRIK2
Mental retardation, FRA12A type; 136630; DIP2B
Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities; 612652; PYCS
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; 613443; MEF2C
Mental retardation, truncal obesity, retinal dystrophy, and micropenis; 610156; INPP5E
Mental retardation, X-linked 1; 309530; IQSEC2
Mental retardation, X-linked 17/31, microduplication; 300705; HSD17B10
Mental retardation, X-linked 30; 300558; PAK3
Mental retardation, X-linked 36/43/54; 300419; ARX
Mental retardation, X-linked 45; 300498; ZNF81
Mental retardation, X-linked 58; 300210; TM4SF2
Mental retardation, X-linked 59; 300630; AP1S2
Mental retardation, X-linked 93; 300659; BRWD3
Mental retardation, X-linked 94; 300699; GRIA3
Mental retardation, X-linked 95; 300716; MAGT1
Mental retardation, X-linked nonspecific; 309541; GDI1
Mental retardation, X-linked nonspecific, 63; 300387; ACSL4
Mental retardation, X-linked nonspecific, type 46; 300436; ARHGEF6
Mental retardation, X-linked syndromic 10; 300220; HSD17B10
Mental retardation, X-linked syndromic, Christianson type; 300243; SLC9A6
Mental retardation, X-linked syndromic, Turner type; 300706; HUWE1
Mental retardation, X-linked, 21/34; 300143; IL1RAPL1
Mental retardation, X-linked; 300495; NLGN4
Mental retardation, X-linked, FRAXE type; 309548; AFF2
Mental retardation, X-linked, Lubs type; 300260; MECP2
Mental retardation, X-linked, Snyder-Robinson type; 309583; SMS
Mental retardation, X-linked, syndromic 13; 300055; MECP2
Mental retardation, X-linked, syndromic 14; 300676; UPF3B
Mental retardation, X-linked, syndromic, JARID1C-related; 300534; KDM5C
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance; 300486; OPHN1
Mental retardation, X-linked, with epilepsy; 300423; ATP6AP2
Mental retardation, X-linked, with isolated growth hormone deficiency; 300123; SOX3
Mental retardation, X-linked, with or without epilepsy; 300802; SYP
Mental retardation, X-linked, ZDHHC9-related; 300799; ZDHHC9
Mental retardation, X-linked-72; 300271; RAB39B
Mental retardation, X-linked-9; 309549; FTSJ1
Mental retardation, X-linked-91; 300577; ZDHHC15
Mental retardation-hypotonic facies syndrome, X-linked, 2; 300639; CUL4B
Mental retardation-hypotonic facies syndrome, X-linked; 309580; ATRX
Mephenytoin poor metabolizer; 609535; CYP2C
Metachondromatosis; 156250; PTPN11
Metachromatic leukodystrophy due to SAP-b deficiency; 249900; PSAP
Metachromatic leukodystrophy; 250100; ARSA
Metaphyseal anadysplasia 1; 602111; MMP13
Metaphyseal anadysplasia 2; 613073; MMP9
Metaphyseal chondrodysplasia, Murk Jansen type; 156400; PTHR1
Metaphyseal dysplasia without hypotrichosis; 250460; RMRP
Metatropic dysplasia; 156530; TRPV4
Methemoglobinemia, type I; 250800; CYB5R3
Methemoglobinemia, type II; 250800; CYB5R3
Methemoglobinemia, type IV; 250790; CYB5A
Methionine adenosyltransferase deficiency, autosomal recessive; 250850; MAT1A
Methylcobalamin deficiency, cblG type; 250940; MTR
Methylmalonic aciduria and homocystinuria, cblC type; 277400; MMACHC
Methylmalonic aciduria and homocystinuria, cblD type; 277410; C2orf25
Methylmalonic aciduria and homocystinuria, cblF type; 277380; LMBRD1
Methylmalonic aciduria due to transcobalamin receptor defect; 613646; CD320
Methylmalonic aciduria, cblD type, variant 2; 277410; C2orf25
Methylmalonic aciduria, vitamin B12-responsive; 251100; MMAA
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; 251110; MMAB
Methylmalonyl-CoA epimerase deficiency; 251120; MCEE
Mevalonic aciduria; 610377; MVK
MHC class II deficiency, complementation group B; 209920; RFXANK
Micochondrial phosphate carrier deficiency; 610773; SLC25A3
Microcephalic osteodysplastic primordial dwarfism type II; 210720; PCNT
Microcephaly and digital abnormalities with normal intelligence; 602585; MYCN
Microcephaly, Amish type; 607196; SLC25A19
Microcephaly, autosomal recessive 1; 251200; MCPH1
Microcephaly, primary autosomal recessive, 2; 251200; MCPH2
Microcephaly, primary autosomal recessive, 3; 604804; CDK5RAP2
Microcephaly, primary autosomal recessive, 4; 251200; MCPH4
Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern; 608716; ASPM
Microcephaly, primary autosomal recessive, 6; 608393; CEMPJ
Microcephaly, primary autosomal recessive, 7; 612703; STIL
Microcephaly, seizures, and developmental delaty; 613402; PNKP
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma; 193220; BEST1
Microphthalmia, isolated 2; 610093; CHX10
Microphthalmia, isolated 3; 611038; RAX
Microphthalmia, isolated 4; 613094; GDF6
Microphthalmia, isolated 5; 611040; MFRP
Microphthalmia, isolated, with cataract 2; 212550; SIX6
Microphthalmia, isolated, with cataract 4; 610426; CRYBA4
Microphthalmia, isolated, with coloboma 3; 610092; CHX10
Microphthalmia, isolated, with coloboma 5; 611638; SHH
Microphthalmia, syndromic 2; 300166; BCOR
Microphthalmia, syndromic 3; 206900; SOX2
Microphthalmia, syndromic 5; 610125; OTX2
Microphthalmia, syndromic 6; 607932; BMP4
Microphthalmia, syndromic 7; 309801; HCCS
Microphthalmia, syndromic 9; 601186; STRA6
Microtia, hearing impairment, and cleft palate; 612290; HOXA2
Microvillus inclusion disease; 251850; MYO5B
Migraine, familial basilar; 602481; ATP1A2
Migraine, familial hemiplegic, 2; 602481; ATP1A2
Migraine, familial hemiplegic, 3; 609634; SCN1A
Migraine, resistance to; 157300; EDNRA
Miller syndrome; 264750; DHODH
Minicore myopathy with external ophthalmoplegia; 255320; RYR1
Mirror movements, congenital; 157600; DCC
Mirror-image polydactyly; 135750; MIPOL1
Mismatch repair cancer syndrome; 276300; MLH1
Mismatch repair cancer syndrome; 276300; MSH2
Mismatch repair cancer syndrome; 276300; MSH6
Mismatch repair cancer syndrome; 276300; PMS2
Mitochondrial complex 1 deficiency; 252010; C20orf7
Mitochondrial complex I deficiency; 252010; NDUFA1
Mitochondrial complex I deficiency; 252010; NDUFA11
Mitochondrial complex I deficiency; 252010; NDUFAF2
Mitochondrial complex I deficiency; 252010; NDUFAF3
Mitochondrial complex I deficiency; 252010; NDUFAF4
Mitochondrial complex I deficiency; 252010; NDUFS1
Mitochondrial complex I deficiency; 252010; NDUFS2
Mitochondrial complex I deficiency; 252010; NDUFS4
Mitochondrial complex I deficiency; 252010; NDUFV1
Mitochondrial complex I deficiency; 252010; NDUFV2
Mitochondrial complex II deficiency; 252011; SDHAF1
Mitochondrial complex III deficiency; 124000; BCS1L
Mitochondrial complex III deficiency; 124000; UQCRB
Mitochondrial complex III deficiency; 124000; UQCRQ
Mitochondrial complex IV deficiency; 220110; FASTKD2
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria; 612073; SUCLA2
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; 612075; RRM2B
Mitochondrial DNA depletion syndrome, hepatocerebral form; 251880; C10orf2
Mitochondrial DNA depletion syndrome, hepatocerebral form; 251880; MPV17
Mitochondrial DNA depletion syndrome, myopathic form; 609560; TK2
Mitochondrial DNA-depletion syndrome, hepatocerebral form; 251880; DGUOK
Mitochondrial myopathy and sideroblastic anemia; 600462; PUS1
Mitochondrial neurogastrointestinal encephalomyopathy syndrome; 603041; TYMP
Mitochondrial respiratory chain complex II deficiency; 252011; SDHA
Miyoshi muscular dystrophy 3; 613319; ANO5
Miyoshi myopathy; 254130; DYSF
MNGIE without leukoencephalopathy; 603041; POLG
MODY, type I; 125850; HNF4A
MODY, type II; 125851; GCK
MODY, type III; 600496; HNF1A
MODY, type IV; 606392; IPF1
Mohr–Tranebjærg syndrome; 304700; TIMM8A
Molybdenum cofactor deficiency, type A; 252150; MOCS1
Molybdenum cofactor deficiency, type B; 252150; MOCS2
Molybdenum cofactor deficiency, type C; 252150; GPHN
Monilethrix; 158000; KRT81
Monilethrix; 158000; KRT83
Monilethrix; 158000; KRT86
Mononeuropathy of the median nerve, mild; 613353; SH3TC2
Morning glory disc anomaly; 120430; PAX6
Morquio syndrome B; 253010; GLB1
Mosaic variegated aneuploidy syndrome; 257300; BUB1B
Mowat–Wilson syndrome; 235730; ZEB2
Muckle–Wells syndrome; 191900; NLRP3
Mucolipidosis II alpha/beta; 252500; GNPTAB
Mucolipidosis III alpha/beta; 252600; GNPTAB
Mucolipidosis III gamma; 252605; GNPTAG
Mucolipidosis IV; 252650; MCOLN1
Mucopolysaccharidosis Ih; 607014; IDUA
Mucopolysaccharidosis Ih/s; 607015; IDUA
Mucopolysaccharidosis Is; 607016; IDUA
Mucopolysaccharidosis IVA; 253000; GALNS
Mucopolysaccharidosis type IIID; 252940; GNS
Mucopolysaccharidosis type IX; 601492; HYAL1
Mucopolysaccharidosis VII; 253220; GUSB
Muenke syndrome; 602849; FGFR3
Muir–Torre syndrome; 158320; MLH1
Muir–Torre syndrome; 158320; MSH2
Mulibrey nanism; 253250; TRIM37
Mullerian aplasia and hyperandrogenism; 158330; WNT4
Multiple cutaneous and uterine leiomyomata; 150800; FH
Multiple endocrine neoplasia IIA; 171400; RET
Multiple endocrine neoplasia IIB; 162300; RET
Multiple endocrine neoplasia, type IV; 610755; CDKN1B
Multiple pterygium syndrome, lethal type; 253290; CHRNA1
Multiple pterygium syndrome, lethal type; 253290; CHRND
Multiple pterygium syndrome, lethal type; 253290; CHRNG
Multiple sulfatase deficiency; 272200; SUMF1
Multiple synostoses syndrome 3; 612961; FGF9
Muscle glycogenosis; 300559; PHKA1
Muscular dystrophy with epidermolysis bullosa simplex; 226670; PLEC1
Muscular dystrophy, congenital merosin-deficient; 607855; LAMA2
Muscular dystrophy, congenital, due to ITGA7 deficiency; 613204; ITGA7
Muscular dystrophy, congenital, due to partial LAMA2 deficiency; 607855; LAMA2
Muscular dystrophy, limb-girdle, type 1A; 159000; TTID
Muscular dystrophy, limb-girdle, type 1B; 159001; LMNA
Muscular dystrophy, limb-girdle, type 2A; 253600; CAPN3
Muscular dystrophy, limb-girdle, type 2B; 253601; DYSF
Muscular dystrophy, limb-girdle, type 2C; 253700; SGCG
Muscular dystrophy, limb-girdle, type 2D; 608099; SGCA
Muscular dystrophy, limb-girdle, type 2E; 604286; SGCB
Muscular dystrophy, limb-girdle, type 2F; 601287; SGCD
Muscular dystrophy, limb-girdle, type 2G; 601954; TCAP
Muscular dystrophy, limb-girdle, type 2H; 254110; TRIM32
Muscular dystrophy, limb-girdle, type 2J; 608807; TTN
Muscular dystrophy, limb-girdle, type 2L; 611307; ANO5
Muscular dystrophy, limb-girdle, type IC; 607801; CAV3
Muscular dystrophy, rigid spine, 1; 602771; SEPN1
Myasthenia, limb-girdle, familial; 254300; AGRN
Myasthenia, limb-girdle, familial; 254300; DOK7
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; CHRNB1
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; CHRNE
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; MUSK
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; RAPSN
Myasthenic syndrome, congenital, associated with episodic apnea; 254210; CHAT
Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency; 608931; RAPSN
Myasthenic syndrome, fast-channel congenital; 608930; CHRNA1
Myasthenic syndrome, fast-channel congenital; 608930; CHRND
Myasthenic syndrome, fast-channel congenital; 608930; CHRNE
Myasthenic syndrome, slow-channel congenital; 601462; CHRNA1
Myasthenic syndrome, slow-channel congenital; 601462; CHRNB1
Myasthenic syndrome, slow-channel congenital; 601462; CHRND
Myasthenic syndrome, slow-channel congenital; 601462; CHRNE
Mycobacterial infection, atypical, familial disseminated; 209950; IFNGR1
Mycobacterial infection, atypical, familial disseminated; 209950; STAT1
Myelofibrosis, idiopathic; 254450; JAK2
Myeloperoxidase deficiency; 254600; MPO
Myeloproliferative disorder with eosinophilia; 131440; PDGFRB
Myoclonic epilepsy, severe, of infancy; 607208; GABRG2
Myoglobinuria, acute recurrent, autosomal recessive; 268200; LPIN1
Myokymia with neonatal epilepsy; 606437; KCNQ2
Myopathy due to CPT II deficiency; 255110; CPT2
Myopathy with lactic acidosis, hereditary; 255125; ISCU
Myopathy, actin, congenital, with excess of thin myofilaments; 161800; ACTA1
Myopathy, cardioskeletal, desmin-related, with cataract; 608810; CRYAB
Myopathy, centronuclear; 160150; DNM2
Myopathy, centronuclear; 160150; MYF6
Myopathy, centronuclear, autosomal recessive; 255200; BIN1
Myopathy, congenital, Compton-North; 612540; CNTN1
Myopathy, congenital, with fiber-type disproportion 1; 255310; ACTA1
Myopathy, desmin-related, cardioskeletal; 601419; DES
Myopathy, distal 2; 606070; MATR3
Myopathy, distal, with anterior tibial onset; 606768; DYSF
Myopathy, early-onset, with fatal cardiomyopathy; 611705; TTN
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; 613076; GFER
Myopathy, myofibrillar, BAG3-related; 612954; BAG3
Myopathy, myofibrillar, filamin C-related; 609524; FLNC
Myopathy, myofibrillar, ZASP-related; 609452; LDB3
Myopathy, myosin storage; 608358; MYH7
Myopathy, nemaline, 3; 161800; ACTA1
Myopathy, proximal, with early respiratory muscle involvement; 603689; TTN
Myopathy, reducing body, X-linked, childhood-onset; 300718; FHL1
Myopathy, reducing body, X-linked, severe early-onset; 300717; FHL1
Myopathy, spheroid body; 182920; TTID
Myopathy, X-linked, with postural muscle atrophy; 300696; FHL1
Myosclerosis, congenital; 255600; COL6A2
Myotilinopathy; 609200; TTID
Myotonia congenita, atypical, acetazolamide-responsive; 608390; SCN4A
Myotonia congenita, dominant; 160800; CLCN1
Myotonia congenita, recessive; 255700; CLCN1
Myotonic dystrophy; 160900; DMPK
Myotonic dystrophy, type 2; 602668; ZNF9
Myotubular myopathy, X-linked; 310400; MTM1
Myxoid liposarcoma; 613488; DDIT3
Myxoma, intracardiac; 255960; PRKAR1A
N syndrome; 310465; POLA
N-Acetylglutamate synthase deficiency; 237310; NAGS
Naegeli–Franceschetti–Jadassohn syndrome; 161000; KRT14
Nail–patella syndrome; 161200; LMX1B
Nance–Horan syndrome; 302350; NHS
Narcolepsy 1; 161400; HCRT
Nasopharyngeal carcinoma; 607107; TP53
Nasu–Hakola disease; 221770; TREM2
Nasu–Hakola disease; 221770; TYROBP
Naxos disease; 601214; JUP
Nemaline myopathy 1, autosomal dominant; 609284; TPM3
Nemaline myopathy 2, autosomal recessive; 256030; NEB
Nemaline myopathy 7; 610687; CFL2
Nemaline myopathy; 609285; TPM2
Nemaline myopathy, Amish type; 605355; TNNT1
Nephrogenic syndrome of inappropriate antidiuresis; 300539; AVPR2
Nephrolithiasis, type I; 310468; CLCN5
Nephrolithiasis/osteoporosis, hypophosphatemic, 1; 612286; SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2; 612287; SLC9A3R1
Nephronophthisis 1, juvenile; 256100; NPHP1
Nephronophthisis 2, infantile; 602088; INVS
Nephronophthisis 3; 604387; NPHP3
Nephronophthisis 4; 606966; NPHP4
Nephronophthisis 7; 611498; GLIS2
Nephropathy with pretibial epidermolysis bullosa and deafness; 609057; CD151
Nephrosis, congenital, with or without ocular abnormalities; 609049; LAMB2
Nephrotic syndrome, type 1; 256300; NPHS1
Nephrotic syndrome, type 2; 600995; PDCN
Nephrotic syndrome, type 3; 610725; PLCE1
Nephrotic syndrome, type 4; 256370; WT1
Netherton syndrome; 256500; SPINK5
Neural tube defect; 182940; VANGL1
Neuroblastoma; 256700; NME1
Neurodegeneration due to cerebral folate transport deficiency; 613068; FOLR1
Neurodegeneration with brain iron accumulation 1; 234200; PANK2
Neurodegeneration with brain iron accumulation 2B; 610217; PLA2G6
Neurodegeneration with brain iron accumulation 3; 606159; FTL
Neuroepithelioma; 612219; EWSR1
Neurofibromatosis, familial spinal; 162210; NF1
Neurofibromatosis type 1; 162200; NF1
Neurofibromatosis type 2; 101000; NF2
Neurofibromatosis-Noonan syndrome; 601321; NF1
Neuromuscular disease, congenital, with uniform type 1 fiber; 117000; RYR1
Neuronopathy, distal hereditary motor, type IIC; 613376; HSPB3
Neuronopathy, distal hereditary motor, type VI; 604320; IGHMBP2
Neuropathy, congenital hypomyelinating, 1; 605253; EGR2
Neuropathy, congenital hypomyelinating; 605253; MPZ
Neuropathy, distal hereditary motor, type IIA; 158590; HSPB8
Neuropathy, distal hereditary motor, type IIB; 608634; HSPB1
Neuropathy, distal hereditary motor, type V; 600794; BSCL2
Neuropathy, distal hereditary motor, type V; 600794; GARS
Neuropathy, distal hereditary motor, type VIIB; 607641; DCTN1
Neuropathy, hereditary sensory and autonomic, type 1; 162400; SPTLC1
Neuropathy, hereditary sensory and autonomic, type II; 201300; WNK1
Neuropathy, hereditary sensory and autonomic, type IIB; 613115; FAM134B
Neuropathy, hereditary sensory and autonomic, type V; 608654; NGFB
Neuropathy, hereditary sensory, with spastic paraplegia; 256840; CCT5
Neuropathy, hereditary sensory/autonomic, type IC; 613640; SPTLC2
Neuropathy, recurrent, with pressure palsies; 162500; PMP22
Neutral lipid storage disease with myopathy; 610717; PNPLA2
Neutropenia, nonimmune chronic idiopathic, of adults; 607847; GFI1
Neutropenia, severe congenital, autosomal dominant 1; 202700; ELANE
Neutropenia, severe congenital, autosomal dominant 2; 613107; GFI1
Neutropenia, severe congenital, autosomal recessive 3; 610738; HAX1
Neutropenia, severe congenital, autosomal recessive 4; 612541; G6PC3
Neutropenia, severe congenital, X-linked; 300299; WAS
Neutrophil immunodeficiency syndrome; 608203; RAC2
Neutrophilia, hereditary; 162830; CSF3R
Nevo syndrome; 601451; PLOD
Nevus, epidermal; 162900; PIK3CA
Nevus, epidermal, epidermolytic hyperkeratotic type; 600648; KRT10
Nevus, keratinocytic, nonepidermolytic; 162900; FGFR3
Newfoundland rod-cone dystrophy; 607476; RLBP1
Niemann–Pick disease, type A; 257200; SMPD1
Niemann–Pick disease, type B; 607616; SMPD1
Niemann–Pick disease, type C1; 257220; NPC1
Niemann–Pick disease, type C2; 607625; NPC2
Niemann–Pick disease type D; 257220; NPC1
Night blindness, congenital stationary, autosomal dominant 2; 163500; PDE6B
Night blindness, congenital stationary, autosomal dominant 3; 610444; GNAT1
Night blindness, congenital stationary, type 1; 310500; CSNB1
Night blindness, congenital stationary, type 1B; 257270; GRM6
Night blindness, congenital stationary, type 2B; 610427; CABP4
Night blindness, congenital stationary, type IC; 613216; TRPM1
Night blindness, congenital stationary, X-linked, type 2A; 300071; CACNA1F
Night blindness, congenital stationary, autosomal dominant 1; 610445; RHO
Nijmegen breakage syndrome; 251260; NBS1
Nijmegen breakage syndrome-like disorder; 613078; RAD50
Nonaka myopathy; 605820; GNE
Non-Hodgkin lymphoma, somatic; 605027; CASP10
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in; 211980; EGFR
Nonsmall cell lung cancer, somatic; 211980; IRF1
Nonsmall cell lung cancer, somatic; 211980; PIK3CA
Noonan syndrome 1; 163950; PTPN11
Noonan syndrome 3; 609942; KRAS
Noonan syndrome 4; 610733; SOS1
Noonan syndrome 5; 611553; RAF1
Noonan syndrome 6; 613224; NRAS
Noonan-like syndrome with loose anagen hair; 607721; SHOC2
Norrie disease; 310600; NDP
Norum disease; 245900; LCAT
Nystagmus 1, congenital, X-linked; 310700; FRMD7
Nystagmus 6, congenital, X-linked; 300814; GPR143
Obesity with impaired prohormone processing; 600955; PCSK1
Obesity, adrenal insufficiency, and red hair due to POMC deficiency; 609734; POMC
Obesity, autosomal dominant; 601665; MC4R
Obesity, mild, early-onset; 601665; NR0B2
Obesity, severe; 601665; PPARG
Obesity, severe; 601665; SIM1
Occipital horn syndrome; 304150; ATP7A
Ocular albinism, type I, Nettleship-Falls type; 300500; GPR143
Oculoauricular syndrome; 612109; HMX1
Oculocutaneous albinism, type IV; 606574; SLC45A2
Oculodentodigital dysplasia; 164200; GJA1
Oculodentodigital dysplasia, autosomal recessive; 257850; GJA1
Oculopharyngeal muscular dystrophy; 164300; PABPN1
Odontohypophosphatasia; 146300; ALPL
Odontoonychodermal dysplasia; 257980; WNT10A
Ogden syndrome; 300855; NAA10
Oguchi disease-1; 258100; SAG
Oguchi disease-2; 613411; GRK1
OI type II; 166210; COL1A1
OI type III; 259420; COL1A1
OI type IV; 166220; COL1A1
Oligodontia-colorectal cancer syndrome; 608615; AXIN2
Omenn syndrome; 603554; DCLRE1C
Omenn syndrome; 603554; RAG1
Omenn syndrome; 603554; RAG2
Omodysplasia 1; 258315; GPC6
Opitz G syndrome, type I; 300000; MID1
Opitz–Kaveggia syndrome; 305450; MED12
Opremazole poor metabolizer; 609535; CYP2C
Optic atrophy 1; 165500; OPA1
Optic atrophy and cataract; 165300; OPA3
Optic atrophy and deafness; 125250; OPA1
Optic atrophy-7; 612989; TMEM126A
Optic nerve coloboma with renal disease; 120330; PAX2
Optic nerve hypoplasia and abnormalities of the central nervous system; 206900; SOX2
Optic nerve hypoplasia; 165550; PAX6
Oral-facial-digital syndrome 1; 311200; OFD1
Ornithine transcarbamylase deficiency; 311250; OTC
Orofacial cleft 11; 600625; BMP4
Orofacial cleft 5; 608874; MSX1
Orofacial cleft 6; 608864; IRF6
Orofacial cleft 7; 225060; HVEC
Orofacial cleft 8; 129400; TP63
Orthostatic intolerance; 604715; SLC6A2
Osseous heteroplasia, progressive; 166350; GNAS
Ossification of posterior longitudinal ligament of spine; 602475; ENPP1
Osteoarthritis with mild chondrodysplasia; 604864; COL2A1
Osteochondritis dissecans, short stature, and early-onset osteoarthritis; 165800; ACAN
Osteogenesis imperfecta, type I; 166200; COL1A1
Osteogenesis imperfecta, type II; 166210; COL1A2
Osteogenesis imperfecta, type IIB; 610854; CRTAP
Osteogenesis imperfecta, type III; 259420; COL1A2
Osteogenesis imperfecta, type IV; 166220; COL1A2
Osteogenesis imperfecta, type IX; 259440; PPIB
Osteogenesis imperfecta, type VI; 610698; FKBP10
Osteogenesis imperfecta, type VII; 610682; CRTAP
Osteogenesis imperfecta, type VIII; 610915; LEPRE1
Osteoglophonic dysplasia; 166250; FGFR1
Osteolysis, familial expansile; 174810; TNFRSF11A
Osteopathia striata with cranial sclerosis; 300373; FAM123B
Osteopetrosis, AD type I; 607634; LRP5
Osteopetrosis, autosomal dominant 2; 166600; CLCN7
Osteopetrosis, autosomal recessive 2; 259710; TNFSF11
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis; 259730; CA2
Osteopetrosis, autosomal recessive 4; 611490; CLCN7
Osteopetrosis, autosomal recessive 5; 259720; OSTM1
Osteopetrosis, autosomal recessive 6; 611497; PLEKHM1
Osteopetrosis, autosomal recessive 7; 612301; TNFRSF11A
Osteopetrosis, recessive 1; 259700; TCIRG1
Osteopoikilosis; 166700; LEMD3
Osteoporosis, involutional; 166710; VDR
Osteoporosis-pseudoglioma syndrome; 259770; LRP5
Osteosarcoma; 259500; LOH18CR1
Osteosarcoma; 259500; RB1
Osteosarcoma; 259500; TP53
Osteosarcoma, somatic; 259500; CHEK2
Osteosclerosis; 144750; LRP5
Otofaciocervical syndrome; 166780; EYA1
Otopalatodigital syndrome, type I; 311300; FLNA
Otopalatodigital syndrome, type II; 304120; FLNA
Otospondylomegaepiphyseal dysplasia; 215150; COL11A2
Ovarian cancer; 167000; CTNNB1
Ovarian cancer, somatic; 604370; AKT1
Ovarian cancer, somatic; 604370; PIK3CA
Ovarian dysgenesis 1; 233300; FSHR
Ovarian dysgenesis 2; 300510; BMP15
Ovarian hyperstimulation syndrome; 608115; FSHR
Ovarian response to FSH stimulation; 276400; FSHR
Ovarioleukodystrophy; 603896; EIF2B2
Ovarioleukodystrophy; 603896; EIF2B4
Ovarioleukodystrophy; 603896; EIF2B5
Pachyonychia congenita Jackson Lawler type; 167210; KRT17
Pachyonychia congenita Jackson Lawler type; 167210; KRT6B
Pachyonychia congenita, Jadassohn-Lewandowsky type; 167200; KRT16
Pachyonychia congenita, Jadassohn-Lewandowsky type; 167200; KRT6A
Paget disease of bone; 602080; PDB4
Paget disease of bone; 602080; SQSTM1
Paget disease of bone; 602080; TNFRSF11A
Paget disease, juvenile; 239000; TNFRSF11B
Pallister–Hall syndrome; 146510; GLI3
Palmoplantar hyperkeratosis and true hermaphroditism; 610644; RSPO1
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; 610644; RSPO1
Palmoplantar keratoderma, nonepidermolytic; 600962; KRT16
Palmoplantar keratoderma, nonepidermolytic, focal; 613000; KRT16
Palmoplantar verrucous nevus, unilateral; 144200; KRT16
Pancreatic agenesis; 260370; IPF1
Pancreatic cancer; 260350; TP53
Pancreatic cancer; 613347; BRCA2
Pancreatic cancer/melanoma syndrome; 606719; CDKN2A
Pancreatic carcinoma, somatic; 260350; KRAS
Pancreatitis, hereditary; 167800; PRSS1
Pancreatitis, hereditary; 167800; SPINK1
Panhypopituitarism, X-linked; 312000; SOX3
Papillon–Lefèvre syndrome; 245000; CTSC
Paraganglioma and gastric stromal sarcoma; 606864; SDHB
Paraganglioma and gastric stromal sarcoma; 606864; SDHC
Paraganglioma and gastric stromal sarcoma; 606864; SDHD
Paraganglioma, familial chromaffin, 4; 115310; SDHB
Paragangliomas 2; 601650; SDHAF2
Paragangliomas, familial nonchromaffin, 1, with or without deafness; 168000; SDHD
Paragangliomas, familial nonchromaffin, 3; 605373; SDHC
Paramyotonia congenita; 168300; SCN4A
Parathyroid adenoma with cystic changes; 145001; HRPT2
Parathyroid carcinoma; 608266; HRPT2
Parietal foramina 1; 168500; MSX2
Parietal foramina 2; 609597; ALX4
Parietal foramina with cleidocranial dysplasia; 168550; MSX2
Parkes Weber syndrome; 608355; RASA1
Parkinson disease 11; 607688; GIGYF2
Parkinson disease 13; 610297; HTRA2
Parkinson disease 15, autosomal recessive; 260300; FBXO7
Parkinson disease 4; 605543; SNCA
Parkinson disease 6, early onset; 605909; PINK1
Parkinson disease 7, autosomal recessive early-onset; 606324; DJ1
Parkinson disease 9; 606693; ATP13A2
Parkinson disease, juvenile, type 2; 600116; PRKN
Parkinson disease-8; 607060; LRRK2
Parkinsonism-dystonia, infantile; 613135; SLC6A3
Paroxysmal extreme pain disorder; 167400; SCN9A
Paroxysmal nocturnal hemoglobinuria, somatic; 300818; PIGA
Paroxysmal nonkinesigenic dyskinesia; 118800; MR1
Partington syndrome; 309510; ARX
PCWH syndrome; 609136; SOX10
Peeling skin syndrome, acral type; 609796; TGM5
Pelger–Huët anomaly; 169400; LBR
Pelizaeus–Merzbacher disease; 312080; PLP1
Pendred syndrome; 274600; SLC26A4
Pentosuria; 260800; DCXR
Periodic fever, familial; 142680; TNFRSF1A
Periodontitis, juvenile; 170650; CTSC
Periventricular heterotopia with microcephaly; 608097; ARFGEF2
Peroxisomal acyl-CoA oxidase deficiency; 264470; ACOX1
Perry syndrome; 168605; DCTN1
Persistent Mullerian duct syndrome, type I; 261550; AMH
Persistent Mullerian duct syndrome, type II; 261550; AMHR2
Persistent truncus arteriosus; 217095; NKX2-6
Peters anomaly; 604229; CYP1B1
Peters anomaly; 604229; PAX6
Peters anomaly; 604229; PITX2
Peters-plus syndrome; 261540; B3GALTL; B3GTL
Peutz–Jeghers syndrome; 175200; STK11
Pfeiffer syndrome; 101600; FGFR1
Pfeiffer syndrome; 101600; FGFR2
Phenylketonuria; 261600; PAH
Pheochromocytoma; 171300; KIF1B
Pheochromocytoma; 171300; RET
Pheochromocytoma; 171300; SDHB
Pheochromocytoma; 171300; SDHD
Pheochromocytoma; 171300; VHL
Phosphoglycerate dehydrogenase deficiency; 601815; PHGDH
Phosphoglycerate kinase 1 deficiency; 300653; PGK1
Phosphoribosylpyrophosphate synthetase superactivity; 300661; PRPS1
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive; 261750; PHKB
Phosphoserine aminotransferase deficiency; 610992; PSAT1
Pick disease; 172700; MAPT
Pick disease; 172700; PSEN1
Piebaldism; 172800; SNAI2
Pierson syndrome; 609049; LAMB2
Pigmented adrenocortical disease, primary, 1; 610489; PRKAR1A
Pigmented nodular adrenocortical disease, primary, 2; 610475; PDE11A
Pigmented paravenous chorioretinal atrophy; 172870; CRB1
Pilomatricoma; 132600; CTNNB1
Pitt–Hopkins-like syndrome 1; 610042; CNTNAP2
Pitt–Hopkins syndrome; 610954; TCF4
Pituitary adenoma, ACTH-secreting; 219090; AIP
Pituitary adenoma, growth hormone-secreting; 102200; AIP
Pituitary adenoma, prolactin-secreting; 600634; AIP
Pituitary hormone deficiency, combined, 1; 613038; POU1F1
Pituitary hormone deficiency, combined, 2; 262600; PROP1
Pituitary hormone deficiency, combined, 3; 221750; LHX3
Pituitary hormone deficiency, combined, 4; 262700; LHX4
Pituitary hormone deficiency, combined, 5; 182230; HESX1
Plamoplantar keratoderma, epidermolytic; 144200; KRT1
Plasminogen activator inhibitor, type I; 613329; PAI1
Platelet disorder, familial, with associated myeloid malignancy; 601399; RUNX1
Platelet glycoprotein IV deficiency; 608404; CD36
Pleuropulmonary blastoma; 601200; DICER1
Pneumothorax, primary spontaneous; 173600; FLCN
Poikiloderma with neutropenia; 604173; C16orf57
Polycystic kidney and hepatic disease; 263200; FCYT
Polycystic kidney disease 2; 613095; PKD2
Polycystic kidney disease, adult type I; 173900; PKD1
Polycystic liver disease; 174050; PRKCSH
Polycystic liver disease; 174050; SEC63
Polycystic ovary syndrome; 184700; FST
Polycythemia vera; 263300; JAK2
Polycythemia, benign familial; 263400; VHL
Polydactyly, postaxial, types A1 and B; 174200; GLI3
Polydactyly, preaxial type II; 174500; LMBR1
Polydactyly, preaxial, type IV; 174700; GLI3
Polyhydramnios, megalencephaly, and symptomatic epilepsy; 611087; STRADA
Polymicrogyria with optic nerve hypoplasia; 613180; TUBA8
Polymicrogyria, asymmetric; 610031; TUBB2B
Polymicrogyria, bilateral frontoparietal; 606854; GPR56
Polyposis syndrome, hereditary mixed, 2; 610069; BMPR1A
Polyposis, juvenile intestinal; 174900; BMPR1A
Polyposis, juvenile intestinal; 174900; MADH4
Pontocerebellar hypoplasia type 1; 607596; VRK1
Pontocerebellar hypoplasia type 2A; 277470; TSEN54
Pontocerebellar hypoplasia type 2B; 612389; TSEN2
Pontocerebellar hypoplasia type 2C; 612390; TSEN34
Pontocerebellar hypoplasia type 4; 225753; TSEN54
Pontocerebellar hypoplasia, type 6; 611523; RARS2
Popliteal pterygium syndrome; 119500; IRF6
POR deficiency; 201750; POR
Porencephaly; 175780; COL4A1
Porokeratosis, disseminated superficial actinic, 1; 175900; SART3
Porphyria cutanea tarda; 176100; UROD
Porphyria variegata; 176200; PPOX
Porphyria, acute hepatic; 612740; ALAD
Porphyria, acute intermittent; 176000; HMBS
Porphyria, acute intermittent, nonerythroid variant; 176000; HMBS
Porphyria, congenital erythropoietic; 263700; UROS
Porphyria, hepatoerythropoietic; 176100; UROD
Prader–Willi syndrome; 176270; NDN
Prader–Willi syndrome; 176270; SNRPN
Precocious puberty, central; 176400; KISS1R
Precocious puberty, male; 176410; LHCGR
Premature chromosome condensation with microcephaly and mental retardation; 606858; MCPH1
Premature ovarian failure 2B; 300604; FLJ22792
Premature ovarian failure 3; 608996; FOXL2
Premature ovarian failure 4; 300510; BMP15
Premature ovarian failure 5; 611548; NOBOX
Premature ovarian failure 6; 612310; FIGLA
Premature ovarian failure 7; 612964; NR5A1
Premature ovarian failure; 300511; DIAPH2
Primary lateral sclerosis, juvenile; 606353; ALS2
Prion disease with protracted course; 606688; PRNP
Progesterone resistance; 264080; PGR
Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; 609283; SLC25A4
Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; 609286; C10orf2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; 610131; POLG2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5; 613077; RRM2B
Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadism; 157640; POLG
Progressive external ophthalmoplegia, autosomal recessive; 258450; POLG
Progressive familial heart block, type IB; 604559; TRPM4
Proguanil poor metabolizer; 609535; CYP2C
Prolidase deficiency; 170100; PEPD
Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome; 225790; FLVCR2
Properdin deficiency, X-linked; 312060; PFC
Propionicacidemia; 606054; PCCA
Propionicacidemia; 606054; PCCB
Prostate cancer 1, 176807; 601518; RNASEL
Prostate cancer; 176807; BRCA2
Prostate cancer, hereditary; 176807; MSR1
Prostate cancer, progression and metastasis of; 603688; EPHB2
Prostate cancer, somatic; 176807; KLF6
Prostate cancer, somatic; 176807; MAD1L1
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; 308990; CLCN5
Protoporphyria, erythropoietic, autosomal dominant; 177000; FECH
Protoporphyria, erythropoietic, autosomal recessive; 177000; FECH
Protoporphyria, erythropoietic, X-linked dominant; 300752; ALAS2
Proud syndrome; 300004; ARX
Pseudoachondroplasia; 177170; COMP
Pseudohermaphroditism, male, with gynecomastia; 264300; HSD17B3
Pseudohyperkalemia, familial; 177720; PIEZO1
Pseudohypoaldosteronism type I, autosomal dominant; 177735; NR3C2
Pseudohypoaldosteronism type II; 145260; WNK4
Pseudohypoaldosteronism, type I; 264350; SCNN1A
Pseudohypoaldosteronism, type I; 264350; SCNN1B
Pseudohypoaldosteronism, type I; 264350; SCNN1G
Pseudohypoaldosteronism, type IIC; 145260; WNK1
Pseudohypoparathyroidism Ia; 103580; GNAS
Pseudohypoparathyroidism Ib; 603233; GNAS
Pseudohypoparathyroidism Ic; 612462; GNAS
Pseudohypoparathyroidism, type IB; 603233; GNASAS
Pseudohypoparathyroidism, type IB; 603233; STX16
Pseudovaginal perineoscrotal hypospadias; 264600; SRD5A2
Pseudoxanthoma elasticum; 264800; ABCC6
Pseudoxanthoma elasticum, forme fruste; 177850; ABCC6
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; 610842; GGCX
Ptosis, congenital; 178300; ZFHX4
Pulmonary alveolar microlithiasis; 265100; SLC34A2
Pulmonary alveolar proteinosis; 300770; CSF2RA
Pulmonary fibrosis, idiopathic; 178500; SFTPA2
Pulmonary hypertension, familial primary; 178600; BMPR2
Pulmonary hypertension, primary; 178600; MADH9
Pulmonary hypertension, primary, fenfluramine-associated; 178600; BMPR2
Pulmonary veno occlusive disease; 265450; BMPR2
Pycnodysostosis; 265800; CTSK
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency; 612260; MYD88
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne; 604416; PSTPIP1
Pyridoxamine 5'-phosphate oxidase deficiency; 610090; PNPO
Pyropoikilocytosis; 266140; SPTA1
Pyruvate carboxylase deficiency; 266150; PC
Pyruvate dehydrogenase deficiency; 312170; PDHA1
Pyruvate dehydrogenase E2 deficiency; 245348; DLAT
Pyruvate dehydrogenase phosphatase deficiency; 608782; PDP1
Pyruvate kinase deficiency; 266200; PKLR
Rabson–Mendenhall syndrome; 262190; INSR
Radioulnar synostosis with amegakaryocytic thrombocytopenia; 605432; HOXA11
Raine syndrome; 259775; FAM20C
RAPADILINO syndrome; 266280; RECQL4
Rapp–Hodgkin syndrome; 129400; TP63
Recombination rate QTL 1; 612042; RNF212
Refsum disease; 266500; PEX7
Refsum disease; 266500; PHYH
Refsum disease, infantile form; 266510; PEX26
Refsum disease, infantile form; 266510; PXMP3
Refsum disease, infantile; 266510; PEX1
Renal adysplasia; 191830; UPK3A
Renal agenesis; 191830; RET
Renal carcinoma, chromophobe, somatic; 144700; FLCN
Renal cell carcinoma; 144700; DIRC2
Renal cell carcinoma; 144700; HNF1A
Renal cell carcinoma; 144700; RNF139
Renal cell carcinoma, clear cell, somatic; 144700; OGG1
Renal cell carcinoma, papillary, 1; 605074; PRCC
Renal cell carcinoma, papillary, 1; 605074; TFE3
Renal cell carcinoma, papillary, familial and sporadic; 605074; MET
Renal cell carcinoma, somatic; 144700; VHL
Renal cysts and diabetes syndrome; 137920; HNF1B
Renal glucosuria; 233100; SLC5A2
Renal tubular acidosis with deafness; 267300; ATP6B1
Renal tubular acidosis, distal, AD; 179800; SLC4A1
Renal tubular acidosis, distal, AR; 611590; SLC4A1
Renal tubular acidosis, distal, autosomal recessive; 602722; ATP6V0A4
Renal tubular acidosis, proximal, with ocular abnormalities; 604278; SLC4A4
Renal tubular dysgenesis; 267430; ACE
Renal tubular dysgenesis; 267430; AGT
Renal tubular dysgenesis; 267430; AGTR1
Renal tubular dysgenesis; 267430; REN
Renal-hepatic-pancreatic dysplasia; 208540; NPHP3
Renpenning syndrome; 309500; PQBP1
Restrictive dermopathy, lethal; 275210; ZMPSTE24
Reticular dysgenesis; 267500; AK2
Retinal cone dystrophy 3; 610024; PDE6H
Retinal cone dystrophy 3B; 610356; KCNV2
Retinal cone dystrophy 4; 610478; CACNA2D4
Retinal degeneration, late-onset, autosomal dominant; 605670; C1QTNF5
Retinal dystrophy, early-onset severe; 248200; ABCA4
Retinal dystrophy, early-onset severe; 613341; LRAT
Retinitis pigmentosa 33; 610359; SNRNP200
Retinitis pigmentosa 51; 613464; TTC8
Retinitis pigmentosa 54; 613428; C2orf71
Retinitis pigmentosa 55; 613575; ARL6
Retinitis pigmentosa 58; 613617; ZNF513
Retinitis pigmentosa, concentric; 613194; BEST1
Retinitis pigmentosa, digenic; 608133; PRPH2
Retinitis pigmentosa, juvenile; 613341; LRAT
Retinitis pigmentosa, juvenile, autosomal recessive; 268000; SPATA7
Retinitis pigmentosa, late-onset dominant; 268000; CRX
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; 300455; RPGR
Retinitis pigmentosa-1; 180100; RP1
Retinitis pigmentosa-10; 180105; IMPDH1
Retinitis pigmentosa-11; 600138; PRPF31
Retinitis pigmentosa-12, autosomal recessive; 600105; CRB1
Retinitis pigmentosa-13; 600059; PRPF8
Retinitis pigmentosa-14; 600132; TULP1
Retinitis pigmentosa-17; 600852; CA4
Retinitis pigmentosa-18; 601414; HPRP3
Retinitis pigmentosa-19; 601718; ABCA4
Retinitis pigmentosa-2; 312600; RP2
Retinitis pigmentosa-25; 602772; EYS
Retinitis pigmentosa-26; 608380; CERKL
Retinitis pigmentosa-3; 300029; RPGR
Retinitis pigmentosa-30; 607921; FSCN2
Retinitis pigmentosa-31; 609923; TOPORS
Retinitis pigmentosa-35; 610282; SEMA4A
Retinitis pigmentosa-36; 610599; PRCD
Retinitis pigmentosa-37; 611131; NR2E3
Retinitis pigmentosa-38; 268000; MERTK
Retinitis pigmentosa-39; 268000; USH2A
Retinitis pigmentosa-41; 612095; PROM1
Retinitis pigmentosa-42; 612943; KLHL7
Retinitis pigmentosa-45; 268000; CNGB1
Retinitis pigmentosa-50; 613194; BEST1
Retinitis pigmentosa-7; 608133; PRPH2
Retinitis pigmentosa-9; 180104; RP9
Retinitis punctata albescens; 136880; PRPH2
Retinitis punctata albescens; 136880; RLBP1
Retinopathy of prematurity; 133780; FZD4
Rett syndrome; 312750; MECP2
Rett syndrome, congenital variant; 613454; FOXG1B
Rett syndrome, preserved speech variant; 312750; MECP2
Revesz syndrome; 268130; TINF2
Reynolds syndrome; 613471; LBR
Rhabdoid predisposition syndrome 1; 609322; SMARCB1
Rhabdoid tumor predisposition syndrome 2; 613325; SMARCA4
Rhabdomyosarcoma 2, alveolar; 268220; PAX3
Rhabdomyosarcoma 2, alveolar; 268220; PAX7
Rhabdomyosarcoma; 268210; SLC22A1L
Rhabdomyosarcoma, alveolar; 268220; FOXO1A
Rhizomelic chondrodysplasia punctata type 1; 215100; PEX7
Rhizomelic chondrodysplasia punctata type 3; 600121; AGPS
Ribose-5-phosphate isomerase deficiency; 608611; RPIA
Rickets due to defect in vitamin D 25-hydroxylation; 600081; CYP2R1
Rickets, vitamin D-resistant, type IIA; 277440; VDR
RIDDLE syndrome; 611943; RNF168
Rieger or Axenfeld anomalies; 602482; FOXC1
Ring dermoid of cornea; 180550; PITX2
Rippling muscle disease; 606072; CAV3
Rippling muscle disease-1; 606072; RMD1
Roberts syndrome; 268300; ESCO2
Robinow syndrome, autosomal recessive; 268310; ROR2
Rolandic epilepsy, mental retardation, and speech dyspraxia; 300643; SRPX2
Rothmund–Thomson syndrome; 268400; RECQL4
Roussy–Lévy syndrome; 180800; MPZ
Roussy–Lévy syndrome; 180800; PMP22
Rubenstein-Taybi syndrome; 180849; CREBBP
Rubinstein–Taybi syndrome; 180849; EP300
Saccharopinuria; 268700; AASS
Saethre–Chotzen syndrome with eyelid anomalies; 101400; TWIST1
Saethre–Chotzen syndrome; 101400; FGFR2
Saethre–Chotzen syndrome; 101400; TWIST1
Salla disease; 604369; SLC17A5
Sandhoff disease, infantile, juvenile, and adult forms; 268800; HEXB
Sanfilippo syndrome, type A; 252900; SGSH
Sanfilippo syndrome, type B; 252920; NAGLU
Sanfilippo syndrome, type C; 252930; HGSNAT
Sarcoidosis, early-onset; 609464; NOD2
SC phocomelia syndrome; 269000; ESCO2
Scapuloperoneal myopathy, X-linked dominant; 300695; FHL1
Scapuloperoneal spinal muscular atrophy; 181405; TRPV4
Scapuloperoneal syndrome, myopathic type; 181430; MYH7
Scapuloperoneal syndrome, neurogenic, Kaeser type; 181400; DES
Schimke immunoosseous dysplasia; 242900; SMARCAL1
Schindler disease, type I; 609241; NAGA
Schindler disease, type III; 609241; NAGA
Schinzel–Giedion midface retraction syndrome; 269150; SETBP1
Schizencephaly; 269160; EMX2
Schizophrenia; 181500; DISC2
Schneckenbecken dysplasia; 269250; SLC35D1
Schöpf–Schulz–Passarge syndrome; 224750; WNT10A
Schwannomatosis; 162091; NF2
Schwartz–Jampel syndrome, type 1; 255800; HSPG2
Sclerosteosis; 269500; SOST
Sea-blue histiocyte disease; 269600; APOE
Sebastian syndrome; 605249; MYH9
Seborrhea-like dermatitis with psoriasiform elements; 610227; ZNF750
Seckel syndrome 1; 210600; ATR
SED congenita; 183900; COL2A1
Segawa syndrome, recessive; 605407; TH
Self-healing collodion baby; 242300; TGM1
SEMD, Pakistani type; 612847; PAPSS2
Senior–Loken syndrome 4; 606996; NPHP4
Senior–Loken syndrome 5; 609254; IQCB1
Senior–Loken syndrome 6; 610189; CEP290
Senior–Loken syndrome-1; 266900; NPHP1
Sensorineural deafness with mild renal dysfunction; 602522; BSND
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; 607459; POLG
Septo-optic dysplasia; 182230; HESX1
SERKAL syndrome; 611812; WNT4
Sertoli cell-only syndrome; 400042; ZNF148
SESAME syndrome; 612780; KCNJ10
Severe combined immunodeficiency due to ADA deficiency; 102700; ADA
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; 611291; NHEJ1
Severe combined immunodeficiency, Athabascan type; 602450; DCLRE1C
Severe combined immunodeficiency, B cell-negative; 601457; RAG1
Severe combined immunodeficiency, B cell-negative; 601457; RAG2
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; CD3D
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; CD3E
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; PTPRC
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type; 608971; IL7R
Severe combined immunodeficiency, X-linked; 300400; IL2RG
Short QT syndrome-1; 609620; KCNH2
Short QT syndrome-2; 609621; KCNQ1
Short QT syndrome-3; 609622; KCNJ2
Short rib-polydactyly syndrome, type III; 263510; DYNC2H1
Short stature; 604271; GHSR
Short stature, idiopathic familial; 300582; SHOX
Short stature, idiopathic familial; 300582; SHOXY
Short stature, idiopathic; 604271; GHR
Shprintzen–Goldberg syndrome; 182212; FBN1
Shwachman–Bodian–Diamond syndrome; 260400; SBDS
Sialic acid storage disorder, infantile; 269920; SLC17A5
Sialidosis, type I; 256550; NEU1
Sialidosis, type II; 256550; NEU1
Sialuria; 269921; GNE
Sick sinus syndrome 1; 608567; SCN5A
Sick sinus syndrome 2; 163800; HCN4
Sickle cell anemia; 603903; HBB
Silver spastic paraplegia syndrome; 270685; BSCL2
Silver–Russell syndrome; 180860; H19
Simpson-Golabi-Behmel syndrome, type 1; 312870; GPC3
Simpson-Golabi-Behmel syndrome, type 2; 300209; OFD1
Sitosterolemia; 210250; ABCG5
Sitosterolemia; 210250; ABCG8
Sjögren–Larsson syndrome; 270200; ALDH3A2
Skeletal defects, genital hypoplasia, and mental retardation; 612447; ZBTB16
Skin fragility-woolly hair syndrome; 607655; DSP
Skin/hair/eye pigmentation 9, dark/light hair; 611742; ASIP
Slowed nerve conduction velocity, AD; 608236; ARHGEF10
Small patella syndrome; 147891; TBX4
SMED, Strudwick type; 184250; COL2A1
Smith–Lemli–Opitz syndrome; 270400; DHCR7
Smith–Magenis syndrome; 182290; RAI1
Smith–McCort dysplasia; 607326; DYM
Snowflake vitreoretinal degeneration; 193230; KCNJ13
Solitary median maxillary central incisor; 147250; SHH
Somatostatin analog, resistance to; 102200; SSTR5
Sorsby fundus dystrophy; 136900; TIMP3
Sotos syndrome; 117550; NSD1
Spastic ataxia, Charlevoix-Saguenay type; 270550; SACS
Spastic paralysis, infantile onset ascending; 607225; ALS2
Spastic paraplegia 10; 604187; KIF5A
Spastic paraplegia 15; 270700; ZFYVE26
Spastic paraplegia 31; 610250; REEP1
Spastic paraplegia 33; 610244; ZFYVE27
Spastic paraplegia 39; 612020; PNPLA6
Spastic paraplegia, 44; 613206; GJC2
Spastic paraplegia-11; 604360; SPG11
Spastic paraplegia-13; 605280; HSPD1
Spastic paraplegia-2; 312920; PLP1
Spastic paraplegia-3A; 182600; SPG3A
Spastic paraplegia-4; 182601; SPAST
Spastic paraplegia-42; 612539; SLC33A1
Spastic paraplegia-5A; 270800; CYP7B1
Spastic paraplegia-6; 600363; NIPA1
Spastic paraplegia-7; 607259; PGN
Spastic paraplegia-8; 603563; KIAA0196
Specific granule deficiency; 245480; CEBPE
Speech-language disorder-1; 602081; FOXP2
Spherocytosis, hereditary, type 5; 612690; EPB42
Spherocytosis, type 1; 182900; ANK1
Spherocytosis, type 3; 270970; SPTA1
Spherocytosis, type 4; 612653; SLC4A1
Spinal and bulbar muscular atrophy of Kennedy; 313200; AR
Spinal muscular atrophy, distal, autosomal recessive, 4; 611067; PLEKHG5
Spinal muscular atrophy, distal, X-linked 3; 300489; ATP7A
Spinal muscular atrophy, late-onset, Finkel type; 182980; VAPB
Spinal muscular atrophy, X-linked 2, infantile; 301830; UBE1
Spinal muscular atrophy-1; 253300; SMN1
Spinal muscular atrophy-2; 253550; SMN1
Spinal muscular atrophy-3; 253400; SMN1
Spinal muscular atrophy-4; 271150; SMN1
Spinocerebellar ataxia 12; 604326; PPP2R2B
Spinocerebellar ataxia 14; 605361; PRKCG
Spinocerebellar ataxia 15; 606658; ITPR1
Spinocerebellar ataxia 17; 607136; TBP
Spinocerebellar ataxia 28; 610246; AFG3L2
Spinocerebellar ataxia 31; 117210; BEAN
Spinocerebellar ataxia 8; 608768; ATXN8OS
Spinocerebellar ataxia 8; 608768; ATXN8
Spinocerebellar ataxia with epilepsy; 607459; POLG
Spinocerebellar ataxia, autosomal recessive 5; 606937; ZNF592
Spinocerebellar ataxia, autosomal recessive 8; 610743; SYNE1
Spinocerebellar ataxia, autosomal recessive 9; 612016; CABC1
Spinocerebellar ataxia, autosomal recessive with axonal neuropathy; 607250; TDP1
Spinocerebellar ataxia, infantile-onset; 271245; C10orf2
Spinocerebellar ataxia-1; 164400; ATXN1
Spinocerebellar ataxia-10; 603516; ATXN10
Spinocerebellar ataxia-11; 604432; TTBK2
Spinocerebellar ataxia-13; 605259; KCNC3
Spinocerebellar ataxia-2; 183090; ATXN2
Spinocerebellar ataxia-27; 609307; FGF14
Spinocerebellar ataxia-5; 600224; SPTBN2
Spinocerebellar ataxia-6; 183086; CACNA1A
Spinocerebellar ataxia-7; 164500; ATXN7
Split-hand/foot malformation 6; 225300; WNT10B
Split-hand/foot malformation, type 4; 605289; TP63
Spondylocarpotarsal synostosis syndrome; 272460; FLNB
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like; 612350; SLC39A13
Spondylocostal dysostosis, autosomal recessive 2; 608681; MESP2
Spondylocostal dysostosis, autosomal recessive 3; 609813; LFNG
Spondylocostal dysostosis, autosomal recessive, 1; 277300; DLL3
Spondylocostal dystostosis 4, autosomal dominant; 122600; GDF6
Spondyloepimetaphyseal dysplasia; 608728; MATN3
Spondyloepimetaphyseal dysplasia, aggrecan type; 612813; ACAN
Spondyloepimetaphyseal dysplasia, Missouri type; 602111; MMP13
Spondyloepiphyseal dysplasia tarda with progressive arthropathy; 208230; WISP3
Spondyloepiphyseal dysplasia tarda; 313400; TRAPPC2
Spondyloepiphyseal dysplasia with congenital joint dislocations; 143095; CHST3
Spondyloepiphyseal dysplasia, Kimberley type; 608361; ACAN
Spondylo-megaepiphyseal-metaphyseal dysplasia; 613330; NKX3-2
Spondylometaepiphyseal dysplasia, short limb-hand type; 271665; DDR2
Spondylometaphyseal dysplasia, Kozlowski type; 184252; TRPV4
Spondyloperipheral dysplasia; 271700; COL2A1
Squamous cell carcinoma, head and neck; 275355; ING1
Squamous cell carcinoma, head and neck; 275355; TNFRSF10B
Stapes ankylosis with broad thumb and toes; 184460; NOG
STAR syndrome; 300707; FAM58A
Stargardt disease 3; 600110; ELOVL4
Stargardt disease 4; 603786; PROM1
Stargardt disease-1; 248200; ABCA4
Startle disease/hyperekplexia, autosomal dominant; 149400; GLRA1
Steatocystoma multiplex; 184500; KRT17
Stickler syndrome, type I; 108300; COL2A1
Stickler syndrome, type II; 604841; COL11A1
Stickler syndrome, type III; 184840; COL11A2
Stiff skin syndrome; 184900; FBN1
Stocco dos Santos X-linked mental retardation syndrome; 300434; SHROOM4
Stomach cancer; 137215; KRAS
Stomatocytosis I; 185000; EPB72
Striatal degeneration, autosomal dominant; 609161; PDE8B
Striatonigral degeneration, infantile; 271930; NUP62
Stuve–Wiedemann syndrome/Schwartz–Jampel type 2 syndrome; 601559; LIFR
Subcortical laminal heteropia, X-linked; 300067; DCX
Succinic semialdehyde dehydrogenase deficiency; 271980; ALDH5A1
Succinyl-CoA:3-oxoacid CoA transferase deficiency; 245050; OXCT1
Sucrase-isomaltase deficiency, congenital; 222900; SI
Sudden infant death with dysgenesis of the testes syndrome; 608800; TSPYL1
Sulfite oxidase deficiency; 272300; SUOX
Supranuclear palsy, progressive atypical; 260540; MAPT
Supranuclear palsy, progressive; 601104; MAPT
Supravalvar aortic stenosis; 185500; ELN
Surfactant metabolism dysfunction, pulmonary, 1; 265120; SFTPB
Surfactant metabolism dysfunction, pulmonary, 2; 610913; SFTPC
Surfactant metabolism dysfunction, pulmonary, 3; 610921; ABCA3
Sveinsson choreoretinal atrophy; 108985; TEAD1
Symphalangism, proximal; 185800; GDF5
Symphalangism, proximal; 185800; NOG
Syndactyly, type III; 186100; GJA1
Syndactyly, type IV; 186200; LMBR1
Syndactyly, type V; 186300; HOXD13
Synostoses syndrome, multiple, 1; 186500; NOG
Synpolydactyly with foot anomalies; 186000; HOXD13
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses; 608180; FBLN1
Synpolydactyly, type II; 186000; HOXD13
Tangier disease; 205400; ABCA1
TARP syndrome; 311900; RBM10
Tarsal-carpal coalition syndrome; 186570; NOG
Tay–Sachs disease; 272800; HEXA
T-cell immunodeficiency, congenital alopecia, and nail dystrophy; 601705; FOXN1
Testicular microlithiasis; 610441; SLC34A2
Testicular tumor, sporadic; 273300; STK11
Tetra-amelia, autosomal recessive; 273395; WNT3
Tetralogy of Fallot; 187500; GDF1
Tetralogy of Fallot; 187500; JAG1
Tetralogy of Fallot; 187500; ZFPM2
Tetrology of Fallot; 187500; NKX2E
Thalassemia, alpha-; 604131; HBA2
Thalassemia, Hispanic gamma-delta-beta; 604131; LCRB
Thalassemia-beta, dominant inclusion-body; 603902; HBB
Thalassemias, alpha-; 604131; HBA1
Thalassemias, beta-; 604131; HBB
Thanatophoric dysplasia, type I; 187600; FGFR3
Thiamine-responsive megaloblastic anemia syndrome; 249270; SLC19A2
Three M syndrome 2; 612921; OBSL1
Thrombocythemia, essential; 187950; JAK2
Thrombocythemia, essential; 187950; MPL
Thrombocythemia, essential; 187950; THPO
Thrombocytopenia 4; 612004; CYCS
Thrombocytopenia with beta-thalassemia, X-linked; 314050; GATA1
Thrombocytopenia, congenital amegakaryocytic; 604498; MPL
Thrombocytopenia, X-linked; 313900; WAS
Thrombocytopenia, X-linked, intermittent; 313900; WAS
Thrombocytopenia-2; 188000; FLJ14813
Thrombocytopenic purpura, autoimmune; 188030; FCGR2C
Thrombophilia due to elevated HRG; 613116; HRG
Thrombophilia due to heparin cofactor II deficiency; 612356; HCF2
Thrombophilia due to HRG deficiency; 613116; HRG
Thrombophilia due to protein C deficiency, autosomal dominant; 176860; PROC
Thrombophilia due to protein C deficiency, autosomal recessive; 612304; PROC
Thrombophilia due to protein S deficiency; 612336; PROS1
Thrombophilia, familial, due to decreased release of PLAT; 612348; PLAT
Thrombophilia, X-linked, due to factor IX defect; 300807; F9
Thrombosis, hyperhomocysteinemic; 236200; CBS
Thrombotic thrombocytopenic purpura, familial; 274150; ADAMTS13
Thryoid dyshormonogenesis 6; 607200; DUOX2
Thyroid carcinoma, follicular; 188470; MINPP1
Thyroid carcinoma, follicular; 188470; NRAS
Thyroid carcinoma, papillary; 188550; GOLGA5
Thyroid carcinoma, papillary; 188550; NCOA4
Thyroid carcinoma, papillary; 188550; PCM1
Thyroid carcinoma, papillary; 188550; PRKAR1A
Thyroid carcinoma, papillary; 188550; TRIM24
Thyroid carcinoma, papillary; 188550; TRIM33
Thyroid dyshormonogenesis 1; 274400; SLC5A5
Thyroid dyshormonogenesis 2A; 274500; TPO
Thyroid dyshormonogenesis 3; 274700; TG
Thyroid dyshormonogenesis 4; 274800; IYD
Thyroid dyshormonogenesis 5; 274900; DUOXA2
Thyroid hormone metabolism, abnormal; 609698; SECISBP2
Thyroid hormone resistance; 188570; THRB
Thyroid hormone resistance, autosomal recessive; 274300; THRB
Thyroid hormone resistance, selective pituitary; 145650; THRB
Thyroid papillary carcinoma; 188550; CCDC6
Tibial muscular dystrophy, tardive; 600334; TTN
Tietz albinism-deafness syndrome; 103500; MITF
Timothy syndrome; 601005; CACNA1C
Tn syndrome; 300622; C1GALT1C1
Toenail dystrophy, isolated; 607523; COL7A1
Tooth agenesis, selective, 1, with or without orofacial cleft; 106600; MSX1
Tooth agenesis, selective, 3; 604625; PAX9
Tooth agenesis, selective, 6; 613097; LTBP3
Tooth agenesis, selective, X-linked 1; 313500; ED1
Torg–Winchester syndrome; 259600; MMP2
Tourette syndrome; 137580; SLITRK1
Townes–Brocks branchiootorenal-like syndrome; 107480; SALL1
Townes–Brocks syndrome; 107480; SALL1
Transaldolase deficiency; 606003; TALDO1
Transcobalamin II deficiency; 275350; TCN2
Transient bullous of the newborn; 131705; COL7A1
Transposition of the great arteries, dextro-looped 1; 608808; MED13L
Treacher Collins mandibulofacial dysostosis; 154500; TCOF1
Trehalase deficiency; 612119; TREH
Trichodentoosseous syndrome; 190320; DLX3
Trichoepithelioma, multiple familial, 1; 601606; CYLD1
Trichorhinophalangeal syndrome, type I; 190350; TRPS1
Trichorhinophalangeal syndrome, type III; 190351; TRPS1
Trichothiodystrophy; 601675; ERCC2
Trichothiodystrophy; 601675; ERCC3
Trichothiodystrophy, complementation group A; 601675; GTF2H5
Trichothiodystrophy, nonphotosensitive 1; 234050; C7orf11
Trichotillomania; 613229; SLITRK1
Trifunctional protein deficiency; 609015; HADHA
Trifunctional protein deficiency; 609015; HADHB
Trigonocephaly; 190440; FGFR1
Trimethylaminuria; 602079; FMO3
Triphalangeal thumb, type I; 174500; LMBR1
Triphalangeal thumb-polysyndactyly syndrome; 174500; LMBR1
Trismus-pseudocamptodactyly syndrome; 158300; MYH8
Tropical calcific pancreatitis; 608189; SPINK1
Troyer syndrome; 275900; SPG20
Tuberous sclerosis-1; 191100; TSC1
Tuberous sclerosis-2; 191100; TSC2
Tumoral calcinosis, familial, normophosphatemic; 610455; SAMD9
Tumoral calcinosis, hyperphosphatemic; 211900; KL
Tumoral calcinosis, hyperphosphatemic, familial; 211900; FGF23
Tumoral calcinosis, hyperphosphatemic, familial; 211900; GALNT3
Tyrosine kinase 2 deficiency; 611521; TYK2
Tyrosinemia type II; 277660; TAT
Tyrosinemia type III; 276710; HPD
Ullrich congenital muscular dystrophy; 254090; COL6A1
Ullrich congenital muscular dystrophy; 254090; COL6A2
Ullrich congenital muscular dystrophy; 254090; COL6A3
Ulna and fibula, absence of, with severe limb deficiency; 276820; WNT7A
Ulnar–mammary syndrome; 181450; TBX3
Urocanase deficiency; 276880; UROC1
Urofacial syndrome; 236730; HPSE2
Usher syndrome, type 1B; 276900; MYO7A
Usher syndrome, type 1C; 276904; USH1C
Usher syndrome, type 1D; 601067; CDH23
Usher syndrome, type 1D/F digenic; 601067; CDH23
Usher syndrome, type 1D/F digenic; 601067; PCDH15
Usher syndrome, type 1F; 602083; PCDH15
Usher syndrome, type 1G; 606943; SANS
Usher syndrome, type 2A; 276901; USH2A
Usher syndrome, type 3; 276902; CLRN1
Usher syndrome, type IIC; 605472; GPR98
Usher syndrome, type IID; 611383; WHRN
UV-sensitive syndrome; 600630; ERCC6
VACTERL association; 192350; HOXD13
Van Buchem disease; 239100; SOST
van Buchem disease, type 2; 607636; LRP5
van der Woude syndrome; 119300; IRF6
Vasculopathy, retinal, with cerebral leukodystrophy; 192315; TREX1
VATER association with macrocephaly and ventriculomegaly; 276950; PTEN
Velocardiofacial syndrome; 192430; TBX1
Venous malformations, multiple cutaneous and mucosal; 600195; TEK
Ventricular fibrillation, familial, 1; 603829; SCN5A
Ventricular fibrillation, paroxysmal familial, 2; 612956; DPP6
Ventricular tachycardia, catecholaminergic polymorphic, 1; 604772; RYR2
Ventricular tachycardia, catecholaminergic polymorphic, 2; 611938; CASQ2
Ventricular tachycardia, idiopathic; 192605; GNAI2
Vertical talus, congenital; 192950; HOXD10
Vesicoureteral reflux 2; 610878; ROBO2
VEXAS; 301054; UBA1
Vitamin D-dependent rickets, type I; 264700; CYP27B1
Vitamin K-dependent clotting factors, combined deficiency of, 2; 607473; VKORC1
Vitamin K-dependent coagulation defect; 277450; GGCX
Vitelliform macular dystrophy, adult-onset; 608161; BEST1
Vitreoretinochoroidopathy; 193220; BEST1
VLCAD deficiency; 201475; ACADVL
Vohwinkel syndrome with ichthyosis; 604117; LOR
Vohwinkel syndrome; 124500; GJB2
von Hippel–Lindau disease, modification of; 193300; CCND1
von Hippel–Lindau syndrome; 193300; VHL
von Willebrand disease, autosomal dominant; 193400; VWF
von Willebrand disease, autosomal recessive; 277480; VWF
von Willebrand disease, platelet-type; 177820; GP1BA
Waardenburg syndrome type 1; 193500; PAX3
Waardenburg syndrome type 2D; 608890; SNAI2
Waardenburg syndrome type 2E, with or without neurologic involvement; 611584; SOX10
Waardenburg syndrome type 3; 148820; PAX3
Waardenburg syndrome type 4A; 277580; EDNRB
Waardenburg syndrome type 4B; 613265; EDN3
Waardenburg syndrome type 4C; 613266; SOX10
Waardenburg syndrome type IIA; 193510; MITF
Waardenburg syndrome/albinism, digenic; 103470; TYR
Waardenburg syndrome/ocular albinism, digenic; 103470; MITF
Wagner syndrome 1; 143200; VCAN
Warburg micro syndrome 1; 600118; RAB3GAP1
Warfarin resistance; 122700; VKORC1
Warfarin sensitivity; 122700; CYP2C9
Warsaw breakage syndrome; 613398; DDX11
Watson syndrome; 193520; NF1
Weaver syndrome; 277590; NSD1
Weill–Marchesani syndrome, dominant; 608328; FBN1
Weill–Marchesani syndrome, recessive; 277600; ADAMTS10
Weill–Marchesani-like syndrome; 613195; ADAMTS17
Weissenbacher–Zweymüller syndrome; 277610; COL11A2
Werner syndrome; 277700; RECQL2
Weyers acrodental dysostosis; 193530; EVC
WHIM syndrome; 193670; CXCR4
White sponge nevus; 193900; KRT13
White sponge nevus; 193900; KRT4
Wilms' tumor 2; 194071; H19
Wilms' tumor; 194070; BRCA2
Wilms' tumor, somatic; 194070; GPC3
Wilms' tumor, type 1; 194070; WT1
Wilson's disease; 277900; ATP7B
Wiskott–Aldrich syndrome; 301000; WAS
Witkop syndrome; 189500; MSX1
Wolcott–Rallison syndrome; 226980; EIF2AK3
Wolff–Parkinson–White syndrome; 194200; PRKAG2
Wolfram syndrome 2; 604928; CISD2
Wolfram syndrome; 222300; WFS1
Wolfram-like syndrome, autosomal dominant; 222300; WFS1
Wolman disease; 278000; LIPA
Woodhouse–Sakati syndrome; 241080; C2orf37
Woolly hair, autosomal dominant; 194300; KRT74
Woolly hair, autosomal recessive 1; 278150; P2RY5
Woolly hair, autosomal recessive 2 with or without hypotrichosis; 604379; LIPH
Wrinkly skin syndrome; 278250; ATP6V0A2
Xanthinuria, type I; 278300; XDH
Xeroderma pigmentosum group A; 278700; XPA
Xeroderma pigmentosum group B; 610651; ERCC3
Xeroderma pigmentosum group C; 278720; XPC
Xeroderma pigmentosum group D; 278730; ERCC2
Xeroderma pigmentosum group E, DDB-negative subtype; 278740; DDB2
Xeroderma pigmentosum group F; 278760; ERCC4
Xeroderma pigmentosum group G; 278780; ERCC5
Xeroderma pigmentosum, variant type; 278750; POLH
XFE progeroid syndrome; 610965; ERCC4
X-inactivation, familial skewed; 300087; XIC
Zellweger syndrome; 214100; PEX10
Zellweger syndrome; 214100; PEX13
Zellweger syndrome; 214100; PEX14
Zellweger syndrome; 214100; PEX26
Zellweger syndrome; 214100; PEX5
Zellweger syndrome; 214100; PXF
Zellweger syndrome, complementation group G; 214100; PEX3
Zellweger syndrome-1; 214100; PEX1

External links

https://www.ncbi.nlm.nih.gov/Omim/omimfaq.html#download

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