Jump to content
 







Main menu
    


Navigation  


●Main page
 ●Contents
 ●Current events
 ●Random article
 ●About Wikipedia
 ●Contact us
 ●Donate
  



Contribute  


●Help
 ●Learn to edit
 ●Community portal
 ●Recent changes
 ●Upload file
  







Search  

































●Create account

●Log in
 









●Create account
 ● Log in
  



Pages for logged out editors learn more  


●Contributions
 ●Talk
  


















Contents

   



(Top)
  


1 External links  













List of OMIM disorder codes






●العربية
  
Edit links
  








●Article
 ●Talk
  
















●Read
 ●Edit
 ●View history
  







Tools
    


Actions  


●Read
 ●Edit
 ●View history
  



General  


●What links here
 ●Related changes
 ●Upload file
 ●Special pages
 ●Permanent link
 ●Page information
 ●Cite this page
 ●Get shortened URL
 ●Download QR code
 ●Wikidata item
  



Print/export  


●Download as PDF
 ●Printable version
  















Appearance
    

 





From Wikipedia, the free encyclopedia
  

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.

  • 17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1
  • 17-beta-hydroxysteroid dehydrogenase X deficiency; 300438; HSD17B10
  • 2-methylbutyrylglycinuria; 610006; ACADSB
  • 3-hydroxyacyl-coa dehydrogenase deficiency; 231530; HADHSC
  • 3-hydroxyisobutryl-CoA hydrolase deficiency; 250620; HIBCH
  • 3-M syndrome; 273750; CUL7
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency; 210200; MCCC1
  • 3-Methylcrotonyl-CoA carboxylase 2 deficiency; 210210; MCCC2
  • 3-Methylglutaconic aciduria type I; 250950; AUH
  • 3-Methylglutaconic aciduria type III; 258501; OPA3
  • 3-Methylglutaconic aciduria type V; 610198; DNAJC19
  • 46XX true hermaphroditism; 400045; SRY
  • 46XY complete gonadal dysgenesis; 233420; DHH
  • 46XY complete gonadal dysgenesis; 400044; SRY
  • 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure; 612965; NR5A1
  • 46XY gonadal dysgenesis, complete, CBS2-related; 613080; CBX2
  • 46XY partial gonadal dysgenesis, with minifascicular neuropathy; 607080; DHH
  • 5-fluorouracil toxicity; 274270; DPYD
  • 6-mercaptopurine sensitivity; 610460; TPMT
  • Aarskog–Scott syndrome; 305400; FGD1
  • ABCD syndrome; 600501; EDNRB
  • Abetalipoproteinemia; 200100; MTP
  • ACAD9 deficiency; 611126; ACAD9
  • Acampomelic campomelic dysplasia; 114290; SOX9
  • Achalasia-Addisonianism-Alacrimia syndrome; 231550; AAAS
  • Acheiropody; 200500; LMBR1
  • Achondrogenesis Ib; 600972; SLC26A2
  • Achondrogenesis type 1A; 200600; TRIP11
  • Achondrogenesis-hypochondrogenesis type 2; 200610; COL2A1
  • Achondroplasia; 100800; FGFR3
  • Achromatopsia-2; 216900; CNGA3
  • Achromatopsia-3; 262300; CNGB3
  • Acrocallosal syndrome; 200990; GLI3
  • Acrocapitofemoral dysplasia; 607778; IHH
  • Acrodermatitis enteropathica; 201100; SLC39A4
  • Acrokeratosis verruciformis; 101900; ATP2A2
  • Acromesomelic dysplasia, Hunter-Thompson type; 201250; GDF5
  • Acromesomelic dysplasia, Maroteaux type; 602875; NPR2
  • Action myoclonus-renal failure syndrome; 254900; SCARB2
  • Acyl-CoA dehydrogenase, long chain, deficiency of; 201460; ACADL
  • Acyl-CoA dehydrogenase, medium chain, deficiency of; 201450; ACADM
  • Acyl-CoA dehydrogenase, short chain, deficiency of; 201470; ACADS
  • Adenocarcinoma of lung, response to tyrosine kinase inhibitor in; 211980; EGFR
  • Adenocarcinoma of lung, somatic; 211980; BRAF
  • Adenocarcinoma of lung, somatic; 211980; ERBB2
  • Adenocarcinoma of lung, somatic; 211980; PRKN
  • Adenocarcinoma, ovarian, somatic; 604370; PRKN
  • Adenomas, multiple colorectal; 608456; MUTYH
  • Adenomas, salivary gland pleomorphic; 181030; PLAG1
  • Adenomatous polyposis coli; 175100; APC
  • Adenosine deaminase deficiency, partial; 102700; ADA
  • Adenosine triphosphate, elevated, of erythrocytes; 102900; PKLR
  • Adenylosuccinase deficiency; 103050; ADSL
  • Adiponectin deficiency; 612556; ADIPOQ
  • Adrenal cortical carcinoma; 202300; TP53
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; 202010; CYP11B1
  • Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency; 201750; POR
  • Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; 300200; DAX1
  • Adrenocorticotropic hormone deficiency; 201400; TBS19
  • Adrenoleukodystrophy; 300100; ABCD1
  • Adrenoleukodystrophy, neonatal; 202370; PEX1
  • Adrenoleukodystrophy, neonatal; 202370; PEX10
  • Adrenoleukodystrophy, neonatal; 202370; PEX13
  • Adrenoleukodystrophy, neonatal; 202370; PEX26
  • Adrenoleukodystrophy, neonatal; 202370; PEX5
  • Adrenomyeloneuropathy; 300100; ABCD1
  • Adult i phenotype with congenital cataract; 110800; GCNT2
  • Adult i phenotype without cataract; 110800; GCNT2
  • ADULT syndrome; 103285; TP63
  • Advanced sleep phase syndrome, familial; 604348; PER2
  • Afibrinogenemia, congenital; 202400; FGA
  • Afibrinogenemia, congenital; 202400; FGB
  • Agammaglobulinemia 1; 601495; IGHM
  • Agammaglobulinemia 2; 613500; IGLL1
  • Agammaglobulinemia 4; 613502; BLNK
  • Agammaglobulinemia 5; 613506; LRRC8A
  • Agammaglobulinemia and isolated hormone deficiency; 307200; BTK
  • Agammaglobulinemia, type 1, X-linked; 300755; BTK
  • AGAT deficiency; 612718; GATM
  • Agenesis of the corpus callosum with peripheral neuropathy; 218000; SLC12A6
  • Aicardi–Goutières syndrome 1, dominant and recessive; 225750; TREX1
  • Aicardi–Goutières syndrome 2; 610181; RNASEH2B
  • Aicardi–Goutières syndrome 3; 610329; RNASEH2C
  • Aicardi–Goutières syndrome 4; 610333; RNASEH2A
  • Aicardi–Goutières syndrome 5; 612952; SAMHD1
  • AICA-ribosiduria due to ATIC deficiency; 608688; ATIC
  • Alagille syndrome 2; 610205; NOTCH2
  • Alagille syndrome; 118450; JAG1
  • Aland Island eye disease; 300600; CACNA1F
  • Albinism, brown oculocutaneous; 203200; OCA2
  • Albinism, brown; 203290; TYRP1
  • Albinism, oculocutaneous, type IA; 203100; TYR
  • Albinism, oculocutaneous, type IB; 606952; TYR
  • Albinism, oculocutaneous, type II; 203200; OCA2
  • Albinism, rufous; 278400; TYRP1
  • Alcohol sensitivity, acute; 610251; ALDH2
  • Aldosteronism, glucocorticoid-remediable; 103900; CYP11B1
  • Alexander disease; 203450; GFAP
  • Alexander disease; 203450; NDUFV1
  • Alkaptonuria; 203500; HGD
  • Allan–Herndon–Dudley syndrome; 300523; SLC16A2
  • Alopecia universalis; 203655; HR
  • Alopecia, neurologic defects, and endocrinopathy syndrome; 612079; RBM28
  • Alpers syndrome; 203700; POLG
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; 609889; RAG1
  • Alpha-2-plasmin inhibitor deficiency; 262850; PLI
  • Alpha-ketoglutarate dehydrogenase deficiency; 203740; OGDH
  • Alpha-methylacetoacetic aciduria; 203750; ACAT1
  • Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX
  • Alpha-thalassemia mental retardation syndrome; 301040; ATRX
  • Alport syndrome; 301050; COL4A5
  • Alport syndrome, autosomal recessive; 203780; COL4A3
  • Alport syndrome, autosomal recessive; 203780; COL4A4
  • Alström syndrome; 203800; ALMS1
  • Alternating hemiplegia of childhood; 104290; ATP1A2
  • Alveolar capillary dysplasia with misalignment of pulmonary veins; 265380; FOXF1
  • Alveolar soft part sarcoma; 606243; ASPSCR1
  • Alzheimer disease 1, familial; 104300; APP
  • Alzheimer disease 6; 104300; AD6
  • Alzheimer disease 8; 104300; AD8
  • Alzheimer disease, late-onset, susceptibility to; 104300; NOS3
  • Alzheimer disease, type 3; 607822; PSEN1
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia; 607822; PSEN1
  • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; 607822; PSEN1
  • Alzheimer disease-10; 104300; AD10
  • Alzheimer disease-2; 104310; APOE
  • Alzheimer disease-4; 606889; PSEN2
  • Alzheimer disease-5; 104300; AD5
  • Amelogenesis imperfecta, hypomaturation type, IIA3; 613211; WDR72
  • Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; 104510; DLX3
  • Amelogenesis imperfecta, hypoplastic/hypomaturation type; 301200; AMELX
  • Amelogenesis imperfecta, type 3; 130900; FAM83H
  • Amelogenesis imperfecta, type IB; 104500; ENAM
  • Amelogenesis imperfecta, type IC; 204650; ENAM
  • Amelogenesis imperfecta, type IIA1; 204700; KLK4
  • Amelogenesis imperfecta, type IIA2; 612529; MMP20
  • Aminoacylase 1 deficiency; 609924; ACY1
  • Amish infantile epilepsy syndrome; 609056; SIAT9
  • Amyloidosis, 3 or more types; 105200; APOA1
  • Amyloidosis, Finnish type; 105120; GSN
  • Amyloidosis, hereditary renal; 105200; FGA
  • Amyloidosis, hereditary, transthyretin-related; 105210; TTR
  • Amyloidosis, primary localized cutaneous; 105250; OSMR
  • Amyloidosis, renal; 105200; LYZ
  • Amyotrophic lateral sclerosis 10, with or without FTD; 612069; TARDBP
  • Amyotrophic lateral sclerosis 11; 612577; FIG4
  • Amyotrophic lateral sclerosis 4, juvenile; 602433; SETX
  • Amyotrophic lateral sclerosis 6, autosomal recessive; 608030; FUS
  • Amyotrophic lateral sclerosis 8; 608627; VAPB
  • Amyotrophic lateral sclerosis 9; 611895; ANG
  • Amyotrophic lateral sclerosis, due to SOD1 deficiency; 105400; SOD1
  • Amyotrophic lateral sclerosis, juvenile; 205100; ALS2
  • Amyotrophy, hereditary neuralgic; 162100; 40430
  • Amytrophic lateral sclerosis 12; 613435; OPTN
  • Anauxetic dysplasia; 607095; RMRP
  • Androgen insensitivity syndrome; 300068; AR
  • Androgen insensitivity, partial, with or without breast cancer; 312300; AR
  • Anemia, congenital dyserythropoietic, type I; 224120; CDAN1
  • Anemia, dyserythropoietic congenital, type II; 224100; SEC23B
  • Anemia, hemolytic, due to UMPH1 deficiency; 266120; NT5C3
  • Anemia, hemolytic, Rh-null, regulator type; 268150; RHAG
  • Anemia, hypochromic microcytic; 206100; NRAMP2
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; GLRX5
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; SLC25A38
  • Anemia, sideroblastic, with ataxia; 301310; ABCB7
  • Anemia, sideroblastic, X-linked; 300751; ALAS2
  • Angelman syndrome; 105830; MECP2
  • Angelman syndrome; 105830; UBE3A
  • Angelman syndrome-like; 105830; CDKL5
  • Angioedema, hereditary, type III; 610618; F12
  • Angioedema, hereditary, types I and II; 106100; C1NH
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; 611773; COL4A1
  • Aniridia; 106210; PAX6
  • Anonychia congenita; 206800; RSPO4
  • Anterior segment mesenchymal dysgenesis; 107250; FOXE3
  • Anterior segment mesenchymal dysgenesis; 107250; PITX3
  • Antithrombin III deficiency; 613118; AT3
  • Antley–Bixler syndrome; 207410; FGFR2
  • Antley–Bixler syndrome-like with disordered steroidogenesis; 201750; POR
  • Anxiety-related personality traits; 607834; SLC6A4
  • Aortic aneurysm, familial thoracic 4; 132900; MYH11
  • Aortic aneurysm, familial thoracic 6; 611788; ACTA2
  • Aortic valve disease; 109730; NOTCH1
  • Apert syndrome; 101200; FGFR2
  • Aphakia, congenital primary; 610256; FOXE3
  • Aplasia of lacrimal and salivary glands; 180920; FGF10
  • Aplastic anemia; 609135; TERC
  • Argininemia; 207800; ARG1
  • Argininosuccinic aciduria; 207900; ASL
  • Aromatase deficiency; 613546; CYP19A1
  • Aromatase excess syndrome; 139300; CYP19A1
  • Aromatic L-amino acid decarboxylase deficiency; 608643; DDC
  • Arrhythmogenic right ventricular dysplasia 1; 107970; TGFB3
  • Arrhythmogenic right ventricular dysplasia 2; 600996; RYR2
  • Arrhythmogenic right ventricular dysplasia 5; 604400; LAMR1
  • Arrhythmogenic right ventricular dysplasia 8; 607450; DSP
  • Arrhythmogenic right ventricular dysplasia, familial, 10; 610193; DSG2
  • Arrhythmogenic right ventricular dysplasia, familial, 11; 610476; DSC2
  • Arrhythmogenic right ventricular dysplasia, familial, 12; 611528; JUP
  • Arrhythmogenic right ventricular dysplasia, familial, 5; 604400; TMEM43
  • Arrhythmogenic right ventricular dysplasia, familial, 9; 609040; PKP2
  • Arterial calcification, generalized, of infancy; 208000; ENPP1
  • Arterial tortuosity syndrome; 208050; SLC2A10
  • Arthrogryposis multiplex congenita, distal type 1; 108120; TPM2
  • Arthrogryposis multiplex congenita, distal type 2B; 601680; TNNI2
  • Arthrogryposis, distal, type 2A; 193700; MYH3
  • Arthrogryposis, distal, type 2B; 601680; MYH3
  • Arthrogryposis, distal, type 2B; 601680; TPM2
  • Arthrogryposis, lethal, with anterior horn cell disease; 611890; GLE1
  • Arthrogryposis, renal dysfunction, and cholestasis 1; 208085; VPS33B
  • Arthrogryposis, renal dysfunction, and cholestasis 2; 613404; VIPAR
  • Arthropathy, progressive pseudorheumatoid, of childhood; 208230; WISP3
  • Arthyrgryposis, distal, type 2B; 601680; TNNT3
  • Arts syndrome; 301835; PRPS1
  • Aspartylglucosaminuria; 208400; AGA
  • Asphyxiating thoracic dystrophy 2; 611263; IFT80
  • Asphyxiating thoracic dystrophy 3; 613091; DYNC2H1
  • Asthma and nasal polyps; 208550; TBX21
  • Ataxia with isolated vitamin E deficiency; 277460; TTPA
  • Ataxia, cerebellar, Cayman type; 601238; ATCAY
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; 208920; APTX
  • Ataxia–ocular apraxia-2; 606002; SETX
  • Ataxia–telangiectasia; 208900; ATM
  • Ataxia–telangiectasia-like disorder; 604391; MRE11A
  • Atelosteogenesis II; 256050; SLC26A2
  • Atelosteogenesis, type III; 108721; FLNB
  • Atelostogenesis, type I; 108720; FLNB
  • Athabaskan brainstem dysgenesis syndrome; 601536; HOXA1
  • Atopy; 147050; SPINK5
  • ATP synthase deficiency, nuclear-encoded; 604273; ATPAF2
  • Atransferrinemia; 209300; TF
  • Atrial fibrillation; 608583; GJA5
  • Atrial fibrillation, familial, 3; 607554; KCNQ1
  • Atrial fibrillation, familial, 4; 611493; KCNE2
  • Atrial fibrillation, familial, 6; 612201; NPPA
  • Atrial fibrillation, familial, 7; 612240; KCNA5
  • Atrial septal defect 4; 611363; TBX20
  • Atrial septal defect 5; 612794; ACTC1
  • Atrial septal defect 6; 613087; TLL1
  • Atrial septal defect with atrioventricular conduction defects; 108900; NKX2E
  • Atrial septal defect-2; 607941; GATA4
  • Atrichia with papular lesions; 209500; HR
  • Atrioventricular canal defect; 600309; AVSD1
  • Atrioventricular septal defect; 600309; GJA1
  • Atrioventricular septal defect, partial, with heterotaxy syndrome; 606217; CRELD1
  • Auditory neuropathy, autosomal recessive, 1; 601071; OTOF
  • Autoimmune disease, syndromic multisystem; 613385; ITCH
  • Autoimmune lymphoproliferative syndrome, type IA; 601859; TNFRSF6
  • Autoimmune lymphoproliferative syndrome, type II; 603909; CASP10
  • Autoimmune lymphoproliferative syndrome, type IIB; 607271; CASP8
  • Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia; 240300; AIRE
  • Axenfeld–Rieger syndrome, type 1; 180500; PITX2
  • Axenfeld–Rieger syndrome, type 3; 602482; FOXC1
  • Azoospermia due to perturbations of meiosis; 270960; SYCP3
  • Azoospermia; 415000; USP9Y
  • Baller–Gerold syndrome; 218600; RECQL4
  • Bamforth–Lazarus syndrome; 241850; FOXE1
  • Bannayan–Riley–Ruvalcaba syndrome; 153480; PTEN
  • Bardet–Biedl syndrome 1; 209900; BBS1
  • Bardet–Biedl syndrome 10; 209900; BBS10
  • Bardet–Biedl syndrome 11; 209900; TRIM32
  • Bardet–Biedl syndrome 12; 209900; BBS12
  • Bardet–Biedl syndrome 13; 209900; MKS1
  • Bardet–Biedl syndrome 14; 209900; CEP290
  • Bardet–Biedl syndrome 15; 209900; C2orf86
  • Bardet–Biedl syndrome 2; 209900; BBS2
  • Bardet–Biedl syndrome 3; 209900; ARL6
  • Bardet–Biedl syndrome 4; 209900; BBS4
  • Bardet–Biedl syndrome 5; 209900; BBS5
  • Bardet–Biedl syndrome 6; 209900; MKKS
  • Bardet–Biedl syndrome 7; 209900; BBS7
  • Bardet–Biedl syndrome 8; 209900; TTC8
  • Bardet–Biedl syndrome 9; 209900; PTHB1
  • Bare lymphocyte syndrome, type I; 604571; TAP1
  • Bare lymphocyte syndrome, type I; 604571; TAPBP
  • Bare lymphocyte syndrome, type I, due to TAP2 deficiency; 604571; TAP2
  • Bare lymphocyte syndrome, type II, complementation group A; 209920; MHC2TA
  • Bare lymphocyte syndrome, type II, complementation group C; 209920; RFX5
  • Bare lymphocyte syndrome, type II, complementation group D; 209920; RFXAP
  • Bare lymphocyte syndrome, type II, complementation group E; 209920; RFX5
  • Barth syndrome; 302060; TAZ
  • Bart–Pumphrey syndrome; 149200; GJB2
  • Bartter syndrome, type 1; 601678; SLC12A1
  • Bartter syndrome, type 2; 241200; KCNJ1
  • Bartter syndrome, type 3; 607364; CLCNKB
  • Bartter syndrome, type 4, digenic; 602522; CLCNKB
  • Bartter syndrome, type 4a; 602522; BSND
  • Bartter syndrome, type 4b, digenic; 613090; CLCNKA
  • Basal cell carcinoma, somatic; 605462; PTCH1
  • Basal cell carcinoma, somatic; 605462; PTCH2
  • Basal cell carcinoma, somatic; 605462; RASA1
  • Basal cell nevus syndrome; 109400; PTCH1
  • Basal ganglia disease, biotin-responsive; 607483; SLC19A3
  • Basal laminar drusen; 126700; HF1
  • BCG and salmonella infection, disseminated; 209950; IL12B
  • BCG infection, generalized familial; 209950; IFNGR1
  • Beare–Stevenson cutis gyrata syndrome; 123790; FGFR2
  • Becker muscular dystrophy; 300376; DMD
  • Beckwith–Wiedemann syndrome; 130650; CDKN1C
  • Beckwith–Wiedemann syndrome; 130650; H19
  • Beckwith–Wiedemann syndrome; 130650; KCNQ10T1
  • Beckwith–Wiedemann syndrome; 130650; NSD1
  • Bernard–Soulier syndrome, benign autosomal dominant; 153670; GP1BA
  • Bernard–Soulier syndrome, type A; 231200; GP1BA
  • Bernard–Soulier syndrome, type B; 231200; GP1BB
  • Bernard–Soulier syndrome, type C; 231200; GP9
  • Best macular dystrophy; 153700; BEST1
  • Bestrophinopathy; 611809; BEST1
  • Beta-ureidopropionase deficiency; 613161; UPB1
  • Bethlem myopathy; 158810; COL6A1
  • Bethlem myopathy; 158810; COL6A2
  • Bethlem myopathy; 158810; COL6A3
  • Bietti crystalline corneoretinal dystrophy; 210370; CYP4V2
  • Bifid nose with or without anorectal and renal anomalies; 608980; FREM1
  • Bile acid malabsorption, primary; 613291; SLC10A2
  • Bile acid synthesis defect, congenital, 2; 235555; AKR1D1
  • Bile acid synthesis defect, congenital, 4; 214950; AMACR
  • Biotinidase deficiency; 253260; BTD
  • Birk–Barel mental retardation dysmorphism syndrome; 612292; KCNK9
  • Birt–Hogg–Dubé syndrome; 135150; FLCN
  • Björnstad syndrome; 262000; BCS1L
  • Bladder cancer; 109800; KRAS
  • Bladder cancer; 109800; RB1
  • Bladder cancer, somatic; 109800; FGFR3
  • Blau syndrome; 186580; NOD2
  • Bleeding disorder due to P2RY12 defect; 609821; P2RY12
  • Blepharophimosis, epicanthus inversus, and ptosis, type 1; 110100; FOXL2
  • Blepharophimosis, epicanthus inversus, and ptosis, type 2; 110100; FOXL2
  • Blood group--Lutheran inhibitor; 111150; KLF1
  • Bloom syndrome; 210900; RECQL3
  • Blue cone monochromacy; 303700; OPN1MW
  • Blue cone monochromacy; 303700; OPN1LW
  • Boomerang dysplasia; 112310; FLNB
  • Börjeson–Forssman–Lehmann syndrome; 301900; PHF6
  • Bosley–Salih–Alorainy syndrome; 601536; HOXA1
  • Bothnia retinal dystrophy; 607475; RLBP1
  • Bowen–Conradi syndrome; 211180; EMG1
  • Brachiootic syndrome 3; 608389; SIX1
  • Brachydactyly type A1; 112500; BDA1B
  • Brachydactyly type A1; 112500; IHH
  • Brachydactyly type A2; 112600; BMPR1B
  • Brachydactyly type A2; 112600; GDF5
  • Brachydactyly type B1; 113000; ROR2
  • Brachydactyly type B2; 611377; NOG
  • Brachydactyly type C; 113100; GDF5
  • Brachydactyly type D; 113200; HOXD13
  • Brachydactyly type E; 113300; HOXD13
  • Brachydactyly type E2; 613382; PTHLH
  • Brachydactyly-syndactyly syndrome; 610713; HOXD13
  • Brachyolmia type 3; 113500; TRPV4
  • Bradyopsia; 608415; RGS9
  • Bradyopsia; 608415; RGS9BP
  • Brain small vessel disease with Axenfeld-Rieger anomaly; 607595; COL4A1
  • Brain small vessel disease with hemorrhage; 607595; COL4A1
  • Branchiooculofacial syndrome; 113620; TFAP2A
  • Branchiootorenal syndrome 2; 610896; SIX5
  • Branchiootorenal syndrome with cataract; 113650; EYA1
  • Branchiootorenal syndrome; 113650; EYA1
  • Breast cancer; 114480; PPM1D
  • Breast cancer; 114480; SLC22A1L
  • Breast cancer; 114480; TP53
  • Breast cancer, early-onset; 114480; BRIP1
  • Breast cancer, invasive ductal; 114480; RAD54L
  • Breast cancer, somatic; 114480; AKT1
  • Breast cancer, somatic; 114480; KRAS
  • Breast cancer, somatic; 114480; PIK3CA
  • Breast cancer, somatic; 114480; RB1CC1
  • Brittle cornea syndrome; 229200; ZNF469
  • Brody myopathy; 601003; ATP2A1
  • Bronchiectasis with or without elevated sweat chloride 1; 211400; SCNN1B
  • Bronchiectasis with or without elevated sweat chloride 2; 613021; SCNN1A
  • Bronchiectasis with or without elevated sweat chloride 3; 613071; SCNN1G
  • Brooke–Spiegler syndrome; 605041; CYLD1
  • Brown–Vialetto–Van Laere syndrome; 211530; C20orf54
  • Bruck syndrome 2; 609220; PLOD2
  • Brugada syndrome 1; 601144; SCN5A
  • Brugada syndrome 2; 611777; GPD1L
  • Brugada syndrome 3; 611875; CACNA1C
  • Brugada syndrome 4; 611876; CACNB2
  • Brugada syndrome 5; 612838; SCN1B
  • Brugada syndrome 6; 613119; KCNE3
  • Brugada syndrome 7; 613120; SCN3B
  • Brugada syndrome 8; 613123; HCN4
  • Brunner syndrome; 300615; MAOA
  • Burkitt's lymphoma; 113970; MYC
  • Buschke–Ollendorff syndrome; 166700; LEMD3
  • C syndrome; 211750; CD96
  • C5 deficiency; 609536; C5
  • C6 deficiency; 612446; C6
  • C7 deficiency; 610102; C7
  • Caffey disease; 114000; COL1A1
  • Campomelic dysplasia with autosomal sex reversal; 114290; SOX9
  • Campomelic dysplasia; 114290; SOX9
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; 208250; PRG4
  • Camurati–Engelmann disease; 131300; TGFB1
  • Canavan disease; 271900; ASPA
  • Candidiasis, familial chronic mucocutaneous, autosomal dominant; 613108; CLEC7A
  • Candidiasis, familial chronic mucocutaneous, autosomal recessive; 212050; CARD9
  • Capillary malformation-arteriovenous malformation; 608354; RASA1
  • Carbamoyl phosphate synthetase I deficiency; 237300; CPS1
  • Carbohydrate-deficient glycoprotein syndrome, type Ib; 602579; MPI
  • Carboxypeptidase N deficiency; 212070; CPN1
  • Carcinoid tumors, intestinal; 114900; SDHD
  • Cardiac arrhythmia, ankyrin-B-related; 600919; ANK2
  • Cardiac conduction defect, nonspecific; 612838; SCN1B
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; 604377; SCO2
  • Cardiofaciocutaneous syndrome; 115150; BRAF
  • Cardiofaciocutaneous syndrome; 115150; KRAS
  • Cardiofaciocutaneous syndrome; 115150; MAP2K1
  • Cardiofaciocutaneous syndrome; 115150; MAP2K2
  • Cardiomyopathy, dilated 1C; 601493; LDB3
  • Cardiomyopathy, dilated; 115200; MYBPC3
  • Cardiomyopathy, dilated, 1A; 115200; LMNA
  • Cardiomyopathy, dilated, 1AA; 612158; ACTN2
  • Cardiomyopathy, dilated, 1BB; 612877; DSG2
  • Cardiomyopathy, dilated, 1CC; 613122; NEXN
  • Cardiomyopathy, dilated, 1D; 601494; TNNT2
  • Cardiomyopathy, dilated, 1DD; 613172; RBM20
  • Cardiomyopathy, dilated, 1E; 601154; SCN5A
  • Cardiomyopathy, dilated, 1EE; 613252; MYH6
  • Cardiomyopathy, dilated, 1FF; 613286; TNNI3
  • Cardiomyopathy, dilated, 1G; 604145; TTN
  • Cardiomyopathy, dilated, 1GG; 613642; SDHA
  • Cardiomyopathy, dilated, 1I; 604765; DES
  • Cardiomyopathy, dilated, 1J; 605362; EYA4
  • Cardiomyopathy, dilated, 1L; 606685; SGCD
  • Cardiomyopathy, dilated, 1M; 607482; CSRP3
  • Cardiomyopathy, dilated, 1N; 607487; TCAP
  • Cardiomyopathy, dilated, 1O; 608569; ABCC9
  • Cardiomyopathy, dilated, 1P; 609909; PLN
  • Cardiomyopathy, dilated, 1R; 613424; ACTC1
  • Cardiomyopathy, dilated, 1S; 613426; MYH7
  • Cardiomyopathy, dilated, 1W; 611407; VCL
  • Cardiomyopathy, dilated, 1X; 611615; FKTN
  • Cardiomyopathy, dilated, 1Y; 611878; TPM1
  • Cardiomyopathy, dilated, 1Z; 611879; TNNC1
  • Cardiomyopathy, dilated, 2A; 611880; TNNI3
  • Cardiomyopathy, dilated, 3A; 300069; TAZ
  • Cardiomyopathy, dilated, 3B; 302045; DMD
  • Cardiomyopathy, familial hypertrophic, 1; 192600; MYH7
  • Cardiomyopathy, familial hypertrophic, 10; 608758; MYL2
  • Cardiomyopathy, familial hypertrophic, 11; 612098; ACTC1
  • Cardiomyopathy, familial hypertrophic, 12; 612124; CSRP3
  • Cardiomyopathy, familial hypertrophic, 13; 613243; TNNC1
  • Cardiomyopathy, familial hypertrophic, 14; 613251; MYH6
  • Cardiomyopathy, familial hypertrophic, 15; 613255; VCL
  • Cardiomyopathy, familial hypertrophic; 192600; CAV3
  • Cardiomyopathy, familial hypertrophic; 192600; SLC25A4
  • Cardiomyopathy, familial hypertrophic, 2; 115195; TNNT2
  • Cardiomyopathy, familial hypertrophic, 3; 115196; TPM1
  • Cardiomyopathy, familial hypertrophic, 4; 115197; MYBPC3
  • Cardiomyopathy, familial hypertrophic, 8; 608751; MYL3
  • Cardiomyopathy, familial restrictive; 115210; TNNI3
  • Cardiomyopathy, familial restrictive, 3; 612422; TNNT2
  • Cardiomyopathy, hypertrophic 6, with WPW; 600858; PRKAG2
  • Cardiomyopathy, hypertrophic, midventricular, digenic; 192600; MYLK2
  • Carney complex variant; 608837; MYH8
  • Carney complex, type 1; 160980; PRKAR1A
  • Carnitine deficiency, systemic primary; 212140; SLC22A5
  • Carotid intimal medial thickness 1; 609338; PPARG
  • Carpal tunnel syndrome, familial; 115430; TTR
  • Carpenter syndrome; 201000; RAB23
  • Cartilage–hair hypoplasia; 250250; RMRP
  • Cataract with late-onset corneal dystrophy; 604219; PAX6
  • Cataract, autosomal dominant, multiple types 1; 611597; BFSP2
  • Cataract, cerulean, type 2; 601547; CRYBB2
  • Cataract, congenital nuclear, 2; 609741; CRYBB3
  • Cataract, congenital nuclear, autosomal recessive 3; 611544; CRYBB1
  • Cataract, congenital zonular, with sutural opacities; 600881; CRYBA1
  • Cataract, congenital; 604219; BFSP2
  • Cataract, congenital, cerulean type, 3; 608983; CRYGD
  • Cataract, congenital, X-linked; 302200; NHS
  • Cataract, Coppock-like; 604307; CRYBB2
  • Cataract, Coppock-like; 604307; CRYGC
  • Cataract, cortical, juvenile-onset; 611391; BFSP1
  • Cataract, crystalline aculeiform; 115700; CRYGD
  • Cataract, juvenile, with microcornea and glucosuria; 612018; SLC16A12
  • Cataract, juvenile-onset; 604219; BFSP2
  • Cataract, lamellar 2; 610425; CRYBA4
  • Cataract, lamellar; 116800; HSF4
  • Cataract, Marner type; 116800; HSF4
  • Cataract, nonnuclear polymorphic congenital; 601286; CRYGD
  • Cataract, polymorphic and lamellar; 604219; MIP
  • Cataract, posterior polar, 1; 613020; EPHA2
  • Cataract, posterior polar, 3; 605387; CHMP4B
  • Cataract, posterior polar, 4; 610623; PITX3
  • Cataract, posterior polar, 4, syndromic; 610623; PITX3
  • Cataract, sutural, with punctate and cerulean opacities; 607133; CRYBB2
  • Cataract, zonular pulverulent-1; 116200; GJA8
  • Cataract, zonular pulverulent-3; 601885; GJA3
  • Cataract-microcornea syndrome; 116150; GJA8
  • CATSHL syndrome; 610474; FGFR3
  • Caudal duplication anomaly; 607864; AXIN1
  • Caudal regression syndrome; 600145; VANGL1
  • Cavernous malformations of CNS and retina; 116860; CCM1
  • CD59 deficiency; 612300; CD59
  • CD8 deficiency, familial; 608957; CD8A
  • Cenani–Lenz syndactyly syndrome; 212780; LRP4
  • Central core disease; 117000; RYR1
  • Central hypoventilation syndrome; 209880; GDNF
  • Central hypoventilation syndrome, congenital; 209880; ASCL1
  • Central hypoventilation syndrome, congenital; 209880; BDNF
  • Central hypoventilation syndrome, congenital; 209880; EDN3
  • Central hypoventilation syndrome, congenital; 209880; PMX2B
  • Central hypoventilation syndrome, congenital; 209880; RET
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; 613227; CA8
  • Cerebellar ataxia; 604290; CP
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; 224050; VLDLR
  • Cerebral amyloid angiopathy; 105150; CST3
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; 605714; APP
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; 125310; NOTCH3
  • Cerebral cavernous malformations 3; 603285; PDCD10
  • Cerebral cavernous malformations-1; 116860; CCM1
  • Cerebral cavernous malformations-2; 603284; C7orf22
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; 609528; SNAP29
  • Cerebral palsy, spastic quadriplegic, 3; 612936; AP4M1
  • Cerebral palsy, spastic quadriplegic; 612900; KANK1
  • Cerebral palsy, spastic, symmetric, autosomal recessive; 603513; GAD1
  • Cerebrocostomandibular-like syndrome; 611209; COG1
  • Cerebrooculofacioskeletal syndrome 1; 214150; ERCC6
  • Cerebrooculofacioskeletal syndrome 2; 610756; ERCC2
  • Cerebrooculofacioskeletal syndrome 4; 610758; ERCC1
  • Cerebrotendinous xanthomatosis; 213700; CYP27A1
  • Ceroid lipofuscinosis, neuronal 8; 600143; CLN8
  • Ceroid lipofuscinosis, neuronal, 10; 610127; CTSD
  • Ceroid lipofuscinosis, neuronal, 7; 610951; MFSD8
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; 610003; CLN8
  • Ceroid lipofuscinosis, neuronal 1, infantile; 256730; PPT1
  • Ceroid-lipofuscinosis, neuronal 2, classic late infantile; 204500; TPP1
  • Ceroid lipofuscinosis, neuronal 3, juvenile; 204200; CLN3
  • Ceroid-lipofuscinosis, neuronal-5, variant late infantile; 256731; CLN5
  • Ceroid-lipofuscinosis, neuronal-6, variant late infantile; 601780; CLN6
  • Cervical cancer, somatic; 603956; FGFR3
  • Chanarin–Dorfman syndrome; 275630; ABHD5
  • Char syndrome; 169100; TFAP2B
  • Charcot–Marie–Tooth disease, axonal, type 2F; 606595; HSPB1
  • Charcot–Marie–Tooth disease, axonal, type 2K; 607831; GDAP1
  • Charcot–Marie–Tooth disease, axonal, type 2L; 608673; HSPB8
  • Charcot–Marie–Tooth disease, axonal, type 2M; 606482; DNM2
  • Charcot–Marie–Tooth disease, axonal, type 2N; 613287; AARS
  • Charcot–Marie–Tooth disease, axonal, with vocal cord paresis; 607706; GDAP1
  • Charcot–Marie–Tooth disease, dominant intermediate 3; 607791; MPZ
  • Charcot–Marie–Tooth disease, dominant intermediate B; 606482; DNM2
  • Charcot–Marie–Tooth disease, dominant intermediate C; 608323; YARS
  • Charcot–Marie–Tooth disease, recessive intermediate, A; 608340; GDAP1
  • Charcot–Marie–Tooth disease, recessive intermediate, B; 613641; KARS
  • Charcot–Marie–Tooth disease type 1A; 118220; PMP22
  • Charcot–Marie–Tooth disease type 1B; 118200; MPZ
  • Charcot–Marie–Tooth disease type 1C; 601098; LITAF
  • Charcot–Marie–Tooth disease type 1D; 607678; EGR2
  • Charcot–Marie–Tooth disease type 1E; 118300; PMP22
  • Charcot–Marie–Tooth disease type 1F; 607734; NEFL
  • Charcot–Marie–Tooth disease type 2A1; 118210; KIF1B
  • Charcot–Marie–Tooth disease type 2A2; 609260; MFN2
  • Charcot–Marie–Tooth disease type 2B; 600882; RAB7
  • Charcot–Marie–Tooth disease type 2B1; 605588; LMNA
  • Charcot–Marie–Tooth disease type 2B2; 605589; MED25
  • Charcot–Marie–Tooth disease type 2D; 601472; GARS
  • Charcot–Marie–Tooth disease type 2E; 607684; NEFL
  • Charcot–Marie–Tooth disease type 2I; 607677; MPZ
  • Charcot–Marie–Tooth disease type 2J; 607736; MPZ
  • Charcot–Marie–Tooth disease type 4A; 214400; GDAP1
  • Charcot–Marie–Tooth disease type 4B1; 601382; MTMR2
  • Charcot–Marie–Tooth disease type 4B2; 604563; SBF2
  • Charcot–Marie–Tooth disease type 4C; 601596; SH3TC2
  • Charcot–Marie–Tooth disease type 4D; 601455; NDRG1
  • Charcot–Marie–Tooth disease type 4F; 145900; PRX
  • Charcot–Marie–Tooth disease type 4H; 609311; FGD4
  • Charcot–Marie–Tooth disease type 4J; 611228; FIG4
  • Charcot–Marie–Tooth disease, X-linked recessive, 5; 311070; PRPS1
  • Charcot–Marie–Tooth neuropathy, X-linked dominant, 1; 302800; GJB1
  • CHARGE syndrome; 214800; CHD7
  • CHARGE syndrome; 214800; SEMA3E
  • Chédiak–Higashi syndrome; 214500; CHS1
  • Cherubism; 118400; SH3BP2
  • Chilblain lupus; 610448; TREX1
  • CHILD syndrome; 308050; NSDHL
  • Chloride diarrhea, congenital, Finnish type; 214700; SLC26A3
  • Cholestasis, benign recurrent intrahepatic, 2; 605479; ABCB11
  • Cholestasis, benign recurrent intrahepatic; 243300; ATP8B1
  • Cholestasis, familial intrahepatic, of pregnancy; 147480; ABCB4
  • Cholestasis, progressive familial intrahepatic 1; 211600; ATP8B1
  • Cholestasis, progressive familial intrahepatic 2; 601847; ABCB11
  • Cholestasis, progressive familial intrahepatic 3; 602347; ABCB4
  • Cholestasis, progressive familial intrahepatic 4; 607765; HSD3B7
  • Cholesteryl ester storage disease; 278000; LIPA
  • Chondrocalcinosis 2; 118600; ANKH
  • Chondrodysplasia punctata, rhizomelic, type 2; 222765; GNPAT
  • Chondrodysplasia punctata, X-linked dominant; 302960; EBP
  • Chondrodysplasia punctata, X-linked recessive; 302950; ARSL
  • Chondrodysplasia, Blomstrand type; 215045; PTHR1
  • Chondrodysplasia, Grebe type; 200700; GDF5
  • Chondrosarcoma; 215300; EXT1
  • Chondrosarcoma, extraskeletal myxoid; 612237; TAF15
  • Chondrosarcoma, extraskeletal myxoid; 612237; TFG
  • Chondrosarcoma, extraskeletal myxoid; 612237; CSMF
  • Chorea, hereditary benign; 118700; NKX2-1
  • Choreoacanthocytosis; 200150; VPS13A
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress; 610978; NKX2-1
  • 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 malonic and methylmalonic aciduria (CMAMMA); 614265; ACSF3
  • Combined malonic and methylmalonic aciduria (CMAMMA); 248360; MLYCD
  • Combined oxidative phosphorylation deficiency 1; 609060; GFM1
  • Combined oxidative phosphorylation deficiency 2; 610498; MRPS16
  • Combined oxidative phosphorylation deficiency 3; 610505; TSFM
  • Combined oxidative phosphorylation deficiency 4; 610678; TUFM
  • Combined oxidative phosphorylation deficiency 5; 611719; MRPS22
  • Combined oxidative phosphorylation deficiency 6; 300816; AIFM1
  • Combined SAP deficiency; 611721; PSAP
  • Complement component 4, partial deficiency of; 120790; C1NH
  • Complement factor H deficiency; 609814; HF1
  • Complement factor I deficiency; 610984; CFI
  • Complex I, mitochondrial respiratory chain, deficiency of; 252010; NDUFS6
  • Cone dystrophy 4; 613093; PDE6C
  • Cone dystrophy-3; 602093; GUCA1A
  • Cone–rod dystrophy 10; 610283; SEMA4A
  • Cone–rod dystrophy 11; 610381; RAXL1
  • Cone–rod dystrophy 12; 612657; PROM1
  • Cone–rod dystrophy 13; 608194; RPGRIP1
  • Cone–rod dystrophy 14; 602093; GUCA1A
  • Cone–rod dystrophy 15; 613660; CDHR1
  • Cone–rod dystrophy 3; 604116; ABCA4
  • Cone–rod dystrophy 5; 600977; PITPNM3
  • Cone–rod dystrophy; 601777; GUCY2D
  • Cone–rod dystrophy 7; 603649; RIMS1
  • Cone–rod dystrophy 9; 612775; ADAM9
  • Cone–rod dystrophy, X-linked, 3; 300476; CACNA1F
  • Cone–rod dystrophy-1; 304020; RPGR
  • Cone–rod retinal dystrophy-2; 120970; CRX
  • Congenital bilateral absence of vas deferens; 277180; CFTR
  • Congenital cataracts, facial dysmorphism, and neuropathy; 604168; CTDP1
  • Congenital disorder of glycosylation, type Ia; 212065; PMM2
  • Congenital disorder of glycosylation, type Ic; 603147; ALG6
  • Congenital disorder of glycosylation, type Id; 601110; ALG3
  • Congenital disorder of glycosylation, type Ie; 608799; DPM1
  • Congenital disorder of glycosylation, type If; 609180; MPDU1
  • Congenital disorder of glycosylation, type Ig; 607143; ALG12
  • Congenital disorder of glycosylation, type Ih; 608104; ALG8
  • Congenital disorder of glycosylation, type Ii; 607906; ALG2
  • Congenital disorder of glycosylation, type IIA; 212066; MGAT2
  • Congenital disorder of glycosylation, type IIb; 606056; GCS1
  • Congenital disorder of glycosylation type IIc; 266265; SLC35C1
  • Congenital disorder of glycosylation, type IId; 607091; B4GALT1
  • Congenital disorder of glycosylation, type IIe; 608779; COG7
  • Congenital disorder of glycosylation, type IIf; 603585; SLC35A1
  • Congenital disorder of glycosylation, type IIg; 611209; COG1
  • Congenital disorder of glycosylation, type IIh; 611182; COG8
  • Congenital disorder of glycosylation, type IIj; 613489; COG4
  • Congenital disorder of glycosylation, type Ij; 608093; DPAGT2
  • Congenital disorder of glycosylation, type Ik; 608540; ALG1
  • Congenital disorder of glycosylation, type Il; 608776; ALG9
  • Congenital disorder of glycosylation, type Im; 610768; TMEM15
  • Congenital disorder of glycosylation, type In; 612015; RFT1
  • Congenital disorder of glycosylation, type Io; 612937; DPM3
  • Congenital disorder of glycosylation, type Ip; 612379; SRD5A3
  • Congenital heart defects, nonsyndromic, 1, X-linked; 306955; ZIC3
  • Congenital heart disease, nonsyndromic, 2; 612863; TAB2
  • Conjunctivitis, ligneous; 217090; PLG
  • Conotruncal anomaly face syndrome; 217095; TBX1
  • Contractural arachnodactyly, congenital; 121050; FBN2
  • Convulsions, benign familial infantile, 3; 607745; SCN2A1
  • Convulsions, familial febrile, 4; 604352; GPR98
  • COPD, rate of decline of lung function in; 606963; MMP1
  • Coproporphyria; 121300; CPOX
  • Cornea plana congenita, recessive; 217300; KERA
  • Corneal dystrophy polymorphous posterior, 2; 609140; COL8A2
  • Corneal dystrophy, Avellino type; 607541; TGFBI
  • Corneal dystrophy, congenital stromal; 610048; DCN
  • Corneal dystrophy, crystalline, of Schnyder; 121800; UBIAD1
  • Corneal dystrophy, epithelial basement membrane; 121820; TGFBI
  • Corneal dystrophy, Fuchs endothelial, 1; 136800; COL8A2
  • Corneal dystrophy, Fuchs endothelial, 4; 613268; SLC4A11
  • Corneal dystrophy, Fuchs endothelial, 6; 613270; ZEB1
  • Corneal dystrophy, gelatinous drop-like; 204870; TACSTD2
  • Corneal dystrophy, Groenouw type I; 121900; TGFBI
  • Corneal dystrophy, hereditary polymorphous posterior; 122000; VSX1
  • Corneal dystrophy, lattice type I; 122200; TGFBI
  • Corneal dystrophy, lattice type IIIA; 608471; TGFBI
  • Corneal dystrophy, posterior polymorphous, 3; 609141; ZEB1
  • Corneal dystrophy, Reis-Bucklers type; 608470; TGFBI
  • Corneal dystrophy, Thiel-Behnke type; 602082; TGFBI
  • Corneal endothelial dystrophy 2; 217700; SLC4A11
  • Corneal endothelial dystrophy and perceptive deafness; 217400; SLC4A11
  • Corneal fleck dystrophy; 121850; PIKFYVE
  • Cornelia de Lange syndrome 1; 122470; NIPBL
  • Cornelia de Lange syndrome 2; 300590; DXS423E
  • Cornelia de Lange syndrome 3; 610759; CSPG6
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; 300472; IGBP1
  • Corpus callosum, partial agenesis of; 304100; L1CAM
  • Cortical dysplasia-focal epilepsy syndrome; 610042; CNTNAP2
  • Corticosteroid-binding globulin deficiency; 611489; CBG
  • Cortisone reductase deficiency; 604931; H6PD
  • Cortisone reductase deficiency; 604931; HSD11B1
  • Costello syndrome; 218040; HRAS
  • Coumarin resistance; 122700; CYP2A6
  • Cousin syndrome; 260660; TBX15
  • Cowden syndrome; 158350; PTEN
  • Cowden-like syndrome; 612359; SDHB
  • Cowden-like syndrome; 612359; SDHD
  • CPT deficiency, hepatic, type IA; 255120; CPT1A
  • CPT deficiency, hepatic, type II; 600649; CPT2
  • CPT II deficiency, lethal neonatal; 608836; CPT2
  • Cranioectodermal dysplasia; 218330; IFT122
  • Craniofacial-deafness-hand syndrome; 122880; PAX3
  • Craniofrontonasal dysplasia; 304110; EFNB1
  • Cranio-lenticulo-sutural dysplasia; 607812; SEC23A
  • Craniometaphyseal dysplasia; 123000; ANKH
  • Cranioosteoarthropathy; 259100; HPGD
  • Craniosynostosis, type 1; 123100; TWIST1
  • Craniosynostosis, type 2; 604757; MSX2
  • CRASH syndrome; 303350; L1CAM
  • Creatine 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 delay; 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
  • Müllerian 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; SELENON
  • 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 Müllerian duct syndrome, type I; 261550; AMH
  • Persistent Müllerian 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[edit]


    Retrieved from "https://en.wikipedia.org/w/index.php?title=List_of_OMIM_disorder_codes&oldid=1223051145"
    Categories: 
    ●Genetic diseases and disorders
     ●Genetics-related lists
     ●Medical lists
     Hidden categories: 
    ●Articles with short description
     ●Short description is different from Wikidata
      


    ●This page was last edited on 9 May 2024, at 15:43 (UTC).
    ●Text is available under the Creative Commons Attribution-ShareAlike License 4.0; additional terms may apply. By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc., a non-profit organization.


    ●Privacy policy
    ●About Wikipedia
    ●Disclaimers
    ●Contact Wikipedia
    ●Code of Conduct
    ●Developers
    ●Statistics
    ●Cookie statement
    ●Mobile view


    Wikimedia Foundation
    Powered by MediaWiki