List of OMIM disorder codes

Source: Wikipedia, the free encyclopedia.

This is a list of disorder codes in the

Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information

Isolated 17,20-lyase deficiency; 202110; CYP17A1
17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1
17-beta-hydroxysteroid dehydrogenase X deficiency; 300438; HSD17B10

2-methylbutyrylglycinuria; 610006; ACADSB
HADHSC
HIBCH
3-M syndrome; 273750; CUL7
MCCC1
MCCC2
AUH
3-Methylglutaconic aciduria type III; 258501; OPA3

3-Methylglutaconic aciduria type V; 610198; DNAJC19

46XY gonadal dysgenesis, complete, CBS2-related; 613080; CBX2
DHH
DPYD
TPMT
Aarskog–Scott syndrome; 305400; FGD1
EDNRB
MTP
ACAD9 deficiency; 611126; ACAD9
Acampomelic campomelic dysplasia; 114290; SOX9
AAAS
Acheiropody; 200500; LMBR1

Achondrogenesis type 1A; 200600; TRIP11

Acrocallosal syndrome; 200990; GLI3
IHH
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, somatic; 211980; BRAF
ERBB2
PRKN
PRKN
Adenomas, multiple colorectal; 608456; MUTYH
Adenomas, salivary gland pleomorphic; 181030; PLAG1
APC
Adenosine deaminase deficiency, partial; 102700; ADA
PKLR
Adenylosuccinase deficiency; 103050; ADSL

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 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
NOTCH2
Alagille syndrome; 118450; JAG1
CACNA1F
OCA2
Albinism, brown; 203290; TYRP1
Albinism, oculocutaneous, type IA; 203100; TYR
Albinism, oculocutaneous, type IB; 606952; TYR
OCA2
Albinism, rufous; 278400; TYRP1
Alcohol sensitivity, acute; 610251; ALDH2
CYP11B1
Alexander disease; 203450; GFAP
Alexander disease; 203450; NDUFV1
Alkaptonuria; 203500; HGD
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
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

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
APP
AD6
AD8
NOS3
PSEN1
PSEN1
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
ENAM
ENAM
Amelogenesis imperfecta, type IIA1; 204700; KLK4
Amelogenesis imperfecta, type IIA2; 612529; MMP20
Aminoacylase 1 deficiency; 609924; ACY1
Amish infantile epilepsy syndrome; 609056; SIAT9
APOA1
Amyloidosis, Finnish type; 105120; GSN
Amyloidosis, hereditary renal; 105200; FGA
Amyloidosis, hereditary, transthyretin-related; 105210; TTR
OSMR
LYZ
TARDBP
FIG4
Amyotrophic lateral sclerosis 4, juvenile; 602433; SETX
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
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
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
RSPO4
Anterior segment mesenchymal dysgenesis; 107250; FOXE3
Anterior segment mesenchymal dysgenesis; 107250; PITX3
AT3
FGFR2
POR
SLC6A4
MYH11
Aortic aneurysm, familial thoracic 6; 611788; ACTA2
NOTCH1
FGFR2
Aphakia, congenital primary; 610256; FOXE3
Aplasia of lacrimal and salivary glands; 180920; FGF10
Aplastic anemia; 609135; TERC
ARG1
ASL
CYP19A1
CYP19A1
DDC
TGFB3
RYR2
Arrhythmogenic right ventricular dysplasia 5; 604400; LAMR1
Arrhythmogenic right ventricular dysplasia 8; 607450; DSP
DSG2
Arrhythmogenic right ventricular dysplasia, familial, 11; 610476; DSC2
JUP
Arrhythmogenic right ventricular dysplasia, familial, 5; 604400; TMEM43
PKP2
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
WISP3
Arthyrgryposis, distal, type 2B; 601680; TNNT3
PRPS1
Aspartylglucosaminuria; 208400; AGA
Asphyxiating thoracic dystrophy 2; 611263; IFT80
Asphyxiating thoracic dystrophy 3; 613091; DYNC2H1
Asthma and nasal polyps; 208550; TBX21
TTPA
Ataxia, cerebellar, Cayman type; 601238; ATCAY
APTX
Ataxia–ocular apraxia-2; 606002; SETX
ATM
Ataxia–telangiectasia-like disorder; 604391; MRE11A
SLC26A2
Atelosteogenesis, type III; 108721; FLNB
Atelostogenesis, type I; 108720; FLNB
HOXA1
SPINK5
ATP synthase deficiency, nuclear-encoded; 604273; ATPAF2
Atransferrinemia; 209300; TF
Atrial fibrillation; 608583; GJA5
KCNQ1
Atrial fibrillation, familial, 4; 611493; KCNE2
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
OTOF
Autoimmune disease, syndromic multisystem; 613385; ITCH
TNFRSF6
CASP10
CASP8
AIRE
Axenfeld–Rieger syndrome, type 1; 180500; PITX2
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
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
SLC12A1
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
RASA1
Basal cell nevus syndrome; 109400; PTCH1

Becker muscular dystrophy; 300376; DMD
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
BEST1
BEST1
Beta-ureidopropionase deficiency; 613161; UPB1
COL6A1
COL6A2
COL6A3
Bietti crystalline corneoretinal dystrophy; 210370; CYP4V2
Bifid nose with or without anorectal and renal anomalies; 608980; FREM1
SLC10A2
AKR1D1
AMACR
BTD
Birk–Barel mental retardation dysmorphism syndrome; 612292; KCNK9
FLCN
Björnstad syndrome; 262000; BCS1L
Bladder cancer; 109800; KRAS
RB1
FGFR3
Blau syndrome; 186580; NOD2
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
RECQL3
Blue cone monochromacy; 303700; OPN1MW

Blue cone monochromacy; 303700; OPN1LW

Boomerang dysplasia; 112310; FLNB
Börjeson–Forssman–Lehmann syndrome; 301900; PHF6
HOXA1
RLBP1
Bowen–Conradi syndrome; 211180; EMG1
SIX1
BDA1B
IHH
Brachydactyly type A2; 112600; BMPR1B

Brachydactyly type A2; 112600; GDF5

Brachydactyly type D; 113200; HOXD13
Brachydactyly type E; 113300; HOXD13

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
EYA1
EYA1
Breast cancer; 114480; PPM1D
Breast cancer; 114480; SLC22A1L
TP53
Breast cancer, early-onset; 114480; BRIP1
Breast cancer, invasive ductal; 114480; RAD54L
Breast cancer, somatic; 114480; AKT1
Breast cancer, somatic; 114480; KRAS
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

C syndrome; 211750; CD96

C5 deficiency; 609536; C5
C6 deficiency; 612446; C6
C7 deficiency; 610102; C7
COL1A1
Campomelic dysplasia with autosomal sex reversal; 114290; SOX9
Campomelic dysplasia; 114290; SOX9
PRG4
TGFB1
ASPA
Candidiasis, familial chronic mucocutaneous, autosomal dominant; 613108; CLEC7A
Candidiasis, familial chronic mucocutaneous, autosomal recessive; 212050; CARD9
RASA1
CPS1
Carbohydrate-deficient glycoprotein syndrome, type Ib; 602579; MPI
Carboxypeptidase N deficiency; 212070; CPN1
Carcinoid tumors, intestinal; 114900; SDHD
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
MYBPC3
LMNA
ACTN2
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
EYA4
Cardiomyopathy, dilated, 1L; 606685; SGCD
Cardiomyopathy, dilated, 1M; 607482; CSRP3
TCAP
Cardiomyopathy, dilated, 1O; 608569; ABCC9
PLN
Cardiomyopathy, dilated, 1R; 613424; ACTC1
Cardiomyopathy, dilated, 1S; 613426; MYH7
Cardiomyopathy, dilated, 1W; 611407; VCL
FKTN
Cardiomyopathy, dilated, 1Y; 611878; TPM1
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
TNNC1
Cardiomyopathy, familial hypertrophic, 14; 613251; MYH6
Cardiomyopathy, familial hypertrophic, 15; 613255; VCL
Cardiomyopathy, familial hypertrophic; 192600; CAV3

Cardiomyopathy, familial hypertrophic, 2; 115195; TNNT2
Cardiomyopathy, familial hypertrophic, 3; 115196; TPM1
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
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
CRYBA1
Cataract, congenital; 604219; BFSP2
CRYGD
Cataract, congenital, X-linked; 302200; NHS
Cataract, Coppock-like; 604307; CRYBB2
Cataract, Coppock-like; 604307; CRYGC
Cataract, cortical, juvenile-onset; 611391; BFSP1
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
CRYGD
MIP
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
FGFR3
Caudal duplication anomaly; 607864; AXIN1
Caudal regression syndrome; 600145; VANGL1
CCM1
CD59 deficiency; 612300; CD59
CD8 deficiency, familial; 608957; CD8A
LRP4
RYR1
GDNF
Central hypoventilation syndrome, congenital; 209880; ASCL1
BDNF
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
VLDLR
CST3
APP
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; 125310; NOTCH3

Cerebral cavernous malformations 3; 603285; PDCD10
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
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-5, variant late infantile; 256731; CLN5
Ceroid-lipofuscinosis, neuronal-6, variant late infantile; 601780; CLN6
FGFR3
Chanarin–Dorfman syndrome; 275630; ABHD5

Char syndrome; 169100; TFAP2B
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
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
PMP22
NEFL
Charcot–Marie–Tooth disease type 2A1; 118210; KIF1B
Charcot–Marie–Tooth disease type 2A2; 609260; MFN2
RAB7
LMNA
Charcot–Marie–Tooth disease type 2B2; 605589; MED25
GARS
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
FIG4
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
SLC26A3
Cholestasis, benign recurrent intrahepatic, 2; 605479; ABCB11
ATP8B1
Cholestasis, familial intrahepatic, of pregnancy; 147480; ABCB4
ATP8B1
Cholestasis, progressive familial intrahepatic 2; 601847; ABCB11

Cholestasis, progressive familial intrahepatic 3; 602347; ABCB4

Cholesteryl ester storage disease; 278000; LIPA

Chondrocalcinosis 2; 118600; ANKH
GNPAT
EBP
Chondrodysplasia punctata, X-linked recessive; 302950; ARSL
PTHR1
Chondrodysplasia, Grebe type; 200700; GDF5
Chondrosarcoma; 215300; EXT1
Chondrosarcoma, extraskeletal myxoid; 612237; TAF15
Chondrosarcoma, extraskeletal myxoid; 612237; TFG
Chondrosarcoma, extraskeletal myxoid; 612237; CSMF
NKX2-1
Choreoacanthocytosis; 200150; VPS13A

Chromosome 22q13.3 deletion syndrome; 606232; SHANK3
Chromosome 5q14.3 deletion syndrome; 613443; MEF2C
Chrondrodysplasia, acromesomelic, with genital anomalies; 609441; BMPR1B
NCF1
NCF2
Chronic granulomatous disease, autosomal, due to deficiency of CYBA; 233690; CYBA
CYBB
SAR1B
Ciliary dyskinesia, primary, 1, with or without situs inversus; 244400; DNAI1
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
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
CIRH1A
ASS1
SLC25A13
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

Cocoon syndrome; 613630; CHUK
APTX
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
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

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
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
FGFR3
Colorectal cancer, somatic; 114500; AKT1
Colorectal cancer, somatic; 114500; APC
FLCN
Colorectal cancer, somatic; 114500; MLH3
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 malonic and methylmalonic aciduria (CMAMMA); 614265; ACSF3
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
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
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
CACNA1F
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
SLC35C1
Congenital disorder of glycosylation, type IId; 607091; B4GALT1
Congenital disorder of glycosylation, type IIe; 608779; COG7
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
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
PLG
Conotruncal anomaly face syndrome; 217095; TBX1

Convulsions, benign familial infantile, 3; 607745; SCN2A1
Convulsions, familial febrile, 4; 604352; GPR98
MMP1
Coproporphyria; 121300; CPOX

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
COL8A2
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
SLC4A11
SLC4A11
Corneal fleck dystrophy; 121850; PIKFYVE
Cornelia de Lange syndrome 1; 122470; NIPBL
Cornelia de Lange syndrome 2; 300590; DXS423E
CSPG6
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; 300472; IGBP1
L1CAM
Cortical dysplasia-focal epilepsy syndrome; 610042; CNTNAP2
Corticosteroid-binding globulin deficiency; 611489; CBG
Cortisone reductase deficiency; 604931; H6PD
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
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
EFNB1
SEC23A
Craniometaphyseal dysplasia; 123000; ANKH
Cranioosteoarthropathy; 259100; HPGD
TWIST1
MSX2
L1CAM
SLC6A8
Creatine phosphokinase, elevated serum; 123320; CAV3
PRNP
UGT1A1
UGT1A1
Crisponi syndrome; 601378; CRLF1

Cryptorchidism, bilateral; 219050; LGR8
Cryptorchidism, idiopathic; 219050; INSL3
Currarino syndrome; 176450; MNX1
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
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
SLC3A1
SLC7A9
Cytochrome C oxidase deficiency; 220110; COX6B1

D-2-hydroxyglutaric aciduria; 600721; D2HGDH

Darsun syndrome; 612541; G6PC3
D-bifunctional protein deficiency; 261515; HSD17B4
SLC26A2
De Sanctis–Cacchione syndrome; 278800; ERCC6
Deafness, autosomal dominant 1; 124900; DIAPH1
EYA4
Deafness, autosomal dominant 11, neurosensory; 601317; MYO7A
COL11A2
Deafness, autosomal dominant 15; 602459; POU4F3
Deafness, autosomal dominant 17; 603622; MYH9
ACTG1
MYO6
SIX1
SLC17A8
GRHL2
Deafness, autosomal dominant 2A; 600101; KCNQ4
Deafness, autosomal dominant 2B; 612644; GJB3
Deafness, autosomal dominant 36; 606705; TMC1
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
MYO1A
Deafness, autosomal dominant 5; 600994; DFNA5
Deafness, autosomal dominant 50; 613074; MIR96
Deafness, autosomal dominant 8/12; 601543; TECTA
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
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
MYO3A
Deafness, autosomal recessive 31; 607084; WHRN
ESRRB
Deafness, autosomal recessive 36; 609006; ESPN
MYO6
Deafness, autosomal recessive 39; 608265; HGF
Deafness, autosomal recessive 49; 610153; MARVELD2
COL11A2
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
PTPRQ
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
MYO6
PRPS1
Deafness, X-linked 2; 304400; POU3F4
Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema; 603528; PIEZO1
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
PSEN1
MAPT
Dementia, Lewy body; 127750; SNCA
SNCB
Dent's disease 2; 300555; OCRL
Dent's disease; 300009; CLCN5
ATN1
DSPP
DSPP
DSPP
WT1
KRT14
Desbuquois dysplasia; 251450; CANT1
Desmoid disease, hereditary; 135290; APC
DHCR24
AQP2
AVPR2
AVP
Diabetes mellitus, gestational; 125851; GCK
INS
Diabetes mellitus, insulin-dependent, 20; 612520; HNF1A
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
INS
Diabetes mellitus, permanent neonatal, with cerebellar agenesis; 609069; PTF1A
KCNJ11
Diabetes mellitus, transient neonatal 2; 610374; ABCC8
Diabetes mellitus, transient neonatal, 1; 601410; ZFP57
KCNJ11
INS
Diabetes mellitus, type 2; 125853; PAX4

Diabetes mellitus type II; 125853; AKT2

Diaphragmatic hernia 3; 610187; ZFPM2
Diarrhea 3, secretory sodium, congenital, syndromic; 270420; SPINT2
NEUROG3
Diarrhea 5, with tufting enteropathy, congenital; 613217; EPCAM
SLC26A2
SLC26A2
SLC1A1
DiGeorge syndrome; 188400; TBX1
Digital clubbing, isolated congenital; 119900; HPGD
DPYD
Dihydropyrimidinuria; 222748; DPYS
Dilated cardiomyopathy with woolly hair and keratoderma; 605676; DSP
Dimethylglycine dehydrogenase deficiency; 605850; DMGDH
POR
Donnai–Barrow syndrome; 222448; LRP2
DBH
Dosage-sensitive sex reversal; 300018; DAX1
CFC1
Double outlet right ventricle; 217095; GDF1
KRT5
Doyne honeycomb degeneration of retina; 126600; EFEMP1
Dravet syndrome; 607208; SCN1A
CHN1
Duane-radial ray syndrome; 607323; SALL4
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
TERT
Dyskeratosis congenita; 224230; NOLA2
Dyskeratosis congenita, autosomal dominant; 127550; TERC
Dyskeratosis congenita, autosomal dominant; 127550; TINF2
Dyskeratosis congenita, autosomal recessive; 224230; NOLA3
DKC1
HSPG2
Dystonia 16; 612067; PRKRA
Dystonia 6, torsion; 602629; THAP1
SPR
GCH1
ACTB
DRD2
DYT1
Dystonia-11, myoclonic; 159900; SGCE
Dystonia-12; 128235; ATP1A3
Dystonia-parkinsonism, adult-onset; 612953; PLA2G6
Dystonia-Parkinsonism, X-linked; 314250; TAF1
COL7A1
COL7A1
Ectodermal dysplasia, anhidrotic, autosomal dominant; 129490; EDARADD
Ectodermal dysplasia, anhidrotic, autosomal recessive; 224900; EDARADD
NFKBIA
ED1
Ectodermal dysplasia, ectrodactyly, and macular dystrophy; 225280; CDH3
Ectodermal dysplasia, hidrotic; 129500; GJB6
EDAR
EDAR
Ectodermal dysplasia, hypohidrotic, with immune deficiency; 300291; IKBKG
Ectodermal dysplasia, 'pure' hair-nail type; 602032; KRT85
PKP1
Ectodermal dysplasia-syndactyly syndrome 1; 613573; PVRL4
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency; 300301; IKBKG
FBN1
Ectopia lentis, isolated, autosomal recessive; 225100; ADAMTSL4
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; 604292; TP63
TNXB
COL1A2
TNXB
Ehlers-Danlos syndrome, musculocontractural type; 601776; CHST14
Ehlers–Danlos syndrome, progeroid form; 130070; B4GALT7
COL1A1
COL5A1
COL5A2
COL5A1
COL3A1
COL3A1
Ehlers–Danlos syndrome, type VI; 225400; PLOD
COL1A1
COL1A2
Ehlers–Danlos syndrome, type VIIC; 225410; ADAMTS2
PTHR1
EPB41
SPTA1
Ellis–van Creveld syndrome; 225500; EVC

Ellis–van Creveld syndrome; 225500
; LBN

Emery–Dreifuss muscular dystrophy 5; 612999; SYNE2
Emery–Dreifuss muscular dystrophy 6; 300696; FHL1
Emery–Dreifuss muscular dystrophy; 310300; EMD
LMNA
LMNA
SERPINA1
SERPINA1
Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency; 604273; TMEM70
SERPINI1
Encephalopathy, neonatal severe; 300673; MECP2
Endocrine-cerebroosteodysplasia; 612651; ICK
Endometrial cancer; 608089; MLH3
Endometrial cancer, familial; 608089; MSH6
Endplate acetylcholinesterase deficiency; 603034; COLQ
NR2E3
Enlarged vestibular aqueduct; 600791; FOXI1
SLC26A4
Enterokinase deficiency; 226200; PRSS7
Eosinophil peroxidase deficiency; 261500; EPX
Epidermodysplasia verruciformis; 226400; TMC6
Epidermodysplasia verruciformis; 226400; TMC8
COL7A1
COL7A1
ITGB4
COL7A1
KRT5
KRT5
PLEC1
KRT14
KRT5
KRT14
KRT5
PLEC1
KRT14
KRT14
KRT5
LAMA3
LAMA3
LAMB3
LAMC2
COL17A1
ITGB4
LAMB3
LAMC2
ITGB4
ITGA6
Epidermolysis bullosa, lethal acantholytic; 609638; DSP
COL7A1
KRT1
KRT10
KRT9
KCNQ3
KCNQ2
PCDH19
Epilepsy, generalized, with febrile seizures plus, type 2; 604233; SCN1A
GABRG2
Epilepsy, juvenile myoclonic, susceptibility to; 613060; GABRD
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
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
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
COL9A2
COL9A3
SLC26A2
MATN3
COL2A1
CACNA1A
SLC1A3
KCNA1
Epstein syndrome; 153650; MYH9
SCN9A
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
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
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
FZD4
NDP
GLA
GLA
Factor V and factor VIII, combined deficiency of; 227300; MCFD2
F5
Factor XI deficiency, autosomal dominant; 612416; F11
Factor XI deficiency, autosomal recessive; 612416; F11
Factor XII deficiency; 234000; F12
F13A1
F13B
PTHR1
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

Farber lipogranulomatosis; 228000; ASAH1

Fatty liver, acute, of pregnancy; 609016; HADHA
Febrile convulsions, familial, 3A; 604403; SCN1A
SCN9A
GABRG2
Fechtner syndrome; 153640; MYH9
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
TUBB3
Fibrosis of extraocular muscles, congenital, 3B; 135700; KIF21A
Fibular hypoplasia and complex brachydactyly; 228900; GDF5
LCAT
KLKB1
Focal cortical dysplasia, Taylor balloon cell type; 607341; TSC1
Focal dermal hypoplasia; 305600; PORCN
SLC46A1
Follicle-stimulating hormone deficiency, isolated; 229070; FSHB
Foveal hyperplasia; 136520; PAX6
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
WT1
FXN
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
TARDBP
ALDOB
Fructose-1,6-bisphosphatase deficiency; 229700; FBP1

Fundus flavimaculatus; 248200; ABCA4

GABA-transaminase deficiency; 613163; ABAT
GALK1
GALE
Galactosemia; 230400; GALT
Galactosialidosis; 256540; CTSA
Gallbladder disease 1; 600803; ABCB4
Gallbladder disease 4; 611465; ABCG8
GAMT
CDH1
Gastric cancer, somatic; 137215; APC
CASP10
ERBB2
FGFR2
Gastric cancer, somatic; 137215; IRF1
Gastric cancer, somatic; 137215; KLF6
Gastric cancer, somatic; 137215; MUTYH
PIK3CA
KIT
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
KCNMA1
Generalized epilepsy with febrile seizures plus; 604233; SCN1B
KIT
SCYL1BP1
PRNP
TBXAS1
Giant axonal neuropathy-1; 256850; GAN
Gillespie syndrome; 206700; PAX6
SLC12A3
ITGA2B
Glaucoma 1, open angle, 1O; 613100; NTF4
Glaucoma 1, open angle, E; 137760; OPTN
Glaucoma 1, open angle, G; 609887; WDR36
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

Globozoospermia; 102530; GOPC
Globozoospermia; 102530; SPATA16
UMOD
FN1
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
MC2R
SLC5A1
SLC2A1
SLC2A1
FTCD
Glutamine deficiency, congenital; 610015; GLUL
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
AMT
Glycine encephalopathy; 605899; GCSH
GLDC
Glycine N-methyltransferase deficiency; 606664; GNMT

Glycogen storage disease 0, muscle; 611556; GYS1
SLC37A4
SLC37A4
Glycogen storage disease Ic; 232240; SLC17A3
Glycogen storage disease II; 232300; GAA
Glycogen storage disease IIb; 300257; LAMP2
AGL
AGL
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
LDHA
ALDOA
Glycogen storage disease XIII; 612932; ENO3
Glycogen storage disease XIV; 612934; PGM1
GYG1
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

GRACILE syndrome; 603358; BCS1L
Greenberg dysplasia; 215140; LBR

Greig cephalopolysyndactyly syndrome; 175700; GLI3
MYO5A
Griscelli syndrome type 2; 607624; RAB27A
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
GHRHR
Growth hormone deficiency, isolated, type II; 173100; GH1
Growth hormone insensitivity with immunodeficiency; 245590; STAT5B
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
PANK2
SLC6A19
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
HBA2
HBA1
HBB
HELLP syndrome, maternal, of pregnancy; 609016; HADHA
Hemangioma, capillary infantile, somatic; 602089; FLT4
Hemangioma, capillary infantile, somatic; 602089; KDR
ELANE
COL4A3
CACNA1A
Hemochromatosis, type 2A; 602390; HJV
HAMP
TFR2
SLC40A1
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
HF1
PRF1
Hemophagocytic lymphohistiocytosis, familial, 3; 608898; UNC13D
Hemophagocytic lymphohistiocytosis, familial, 4; 603552; STX11
Hemophilia B; 306900; F9

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, somatic; 114550; AXIN1
CASP8
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
DTNBP1
Hermansky–Pudlak syndrome 8; 203300; BLOC1S3
Heterotaxy, visceral, 1, S-linke; 306955; ZIC3
CFC1
NODAL
Heterotopia, periventricular; 300049; FLNA

Heterotopia, periventricular, ED variant; 300537; FLNA

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

Hyperglycinuria; 138500; SLC6A20
MVK
Hyper-IgE recurrent infection syndrome; 147060; STAT3
DOCK8
Hyperinsulinemic hypoglycemia, familial, 1; 256450; ABCC8
KCNJ11
Hyperinsulinemic hypoglycemia, familial, 3; 602485; GCK
HADHSC
INSR
SLC16A1
GLUD1
SCN4A
CCM1
APOC2
AASS
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; 250850; MAT1A
SLC25A15
Hyperostosis, endosteal; 144750; LRP5
Hyperoxaluria, primary, type 1; 259900; AGXT
Hyperoxaluria, primary, type II; 260000; GRHPR
DHDPSL
Hyperparathyroidism, AD; 145000; MEN1
HRPT2
Hyperparathyroidism, neonatal; 239200; CASR
HRPT2
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
KITLG
PRODH
ALDH4A1
NR3C2
PNMT
AGTR1
PTGIS
TSHR
TSHR
Hypertrophic osteoarthropathy, primary, autosomal recessive; 259100; HPGD
UMOD
REN
CYP11B2
CYP11B2
APOA1
Hypocalcemia, autosomal dominant; 146200; CASR
Hypocalciuric hypercalcemia, type I; 145980; CASR
FGFR3
Hypoglycemia of infancy, leucine-sensitive; 240800; ABCC8
Hypogonadism, hypogonadotropic; 146110; PROK2
GNRH1
Hypogonadotropic hypogonadism; 146110; CHD7
FGFR1
KISS1R
Hypogonadotropic hypogonadism; 146110; NELF
Hypogonadotropic hypogonadism; 146110; TAC3
TACR3
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
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
SLC34A3
Hypophosphatemic rickets; 300554; CLCN5

Hypophosphatemic rickets, AR; 241520; DMP1
FGF23
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
TSHR
Hypotrichosis and recurrent skin vesicles; 613102; DSC3
CDSN
Hypotrichosis, congenital, with juvenile macular dystrophy; 601553; CDH3
Hypotrichosis, hereditary, Marie Unna type, 1; 146550; HR
Hypotrichosis, localized, autosomal recessive 2; 604379; LIPH
P2RY5
DSG4
Hypotrichosis-lymphedema-telangiectasia syndrome; 607823; SOX18

Hypouricemia, renal, 2; 612076; SLC2A9
Hypouricemia, renal; 220150; SLC22A12
Hystrix-like ichthyosis with deafness; 602540; GJB2
TGM1
Ichthyosiform erythroderma, congenital, nonbullous, 1; 242100; ALOX12B
Ichthyosiform erythroderma, congenital, nonbullous, 1; 242100; ALOXE3
KRT2
MBTPS2
KRT1
SLC27A4
Ichthyosis vulgaris; 146700; FLG
KRT10
Ichthyosis with hypotrichosis; 610765; ST14
Ichthyosis, congenital, autosomal recessive; 612281; ICHYN
KRT1
KRT10
Ichthyosis, harlequin; 242500; ABCA12
Ichthyosis, lamellar 2; 601277; ABCA12
Ichthyosis, lamellar, 3; 604777; CYP4F22
TGM1
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; 607626; CLDN1

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
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
AICDA
TNFRSF5
ICOS
TNFRSF13B
Immunodeficiency, common variable, 3; 613493; CD19
TNFRSF13C
MS4A1
Immunodeficiency, common variable, 6; 613496; CD81
Immunodeficiency, hypogammaglobulinemia, and reduced B cells; 612692; CD79B
Immunodeficiency, isolated; 300584; IKBKG
TNFSF5
Immunodeficiency–centromeric instability–facial anomalies syndrome; 242860; DNMT3B
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; 304790; FOXP3
TNFRSF13B
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; 167320; VCP
Inclusion body myopathy, autosomal recessive; 600737; GNE
MYH2
Incontinentia pigmenti, type II; 308300; IKBKG
Infantile neuroaxonal dystrophy 1; 256600; PLA2G6
Inflammatory bowel disease 25; 612567; CRFB4
SCN9A
NTRK1
PRNP
PPARG
Insulin resistance, severe, digenic; 604367; PPP1R3A
IGF1R
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
FOXC1
Iridogoniodysgenesis, type 2; 137600; PITX2
FOXC1
Iron-refractory iron deficiency anemia; 206200; TMPRSS6
Isobutyryl-coenzyme A dehydrogenase deficiency; 611283; ACAD8
IVD
IVIC syndrome; 147750; SALL4
FGFR1
FGFR2
Jalili syndrome; 217080; CNNM4
Jensen syndrome; 311150; TIMM8A

Jervell and Lange-Nielsen syndrome 2; 612347; KCNE1
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
FGFR1
PROKR2
Kallmann syndrome 4; 610628; PROK2
Kallmann syndrome 5; 612370; CHD7
FGF8
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
DSG1
Keratosis palmoplantaris striata II; 612908; DSP
KRT1
PIK3CA
MGP
KIND1
Kleefstra syndrome; 610253; EHMT1

Klippel–Feil syndrome, autosomal dominant; 118100; GDF6
COL2A1
COL18A1
Kowarski syndrome; 262650; GH1
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
FGFR3
Laing distal myopathy; 160500; MYH7
SHOX
Langer mesomelic dysplasia; 249700; SHOXY
Laron dwarfism; 262500; GHR

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
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
PDHA1
Leiomyomatosis and renal cell cancer; 605839; FH
COL4A6
RAF1
Leopard syndrome; 151100; PTPN11

Leri–Weill dyschondrosteosis; 127300; SHOXY
HPRT1
Lethal congenital contractural syndrome 2; 607598; ERBB3
Lethal congenital contractural syndrome 3; 611369; PIP5K1C
Lethal congenital contracture syndrome 1; 253310; GLE1

Leukemia, acute myelogenous; 601626; AMLCR2
GMPS
JAK2
Leukemia, acute myeloid; 601626; MLF1
Leukemia, acute myeloid; 601626; NSD1
Leukemia, acute myeloid; 601626; SH3GL1
AF10
Leukemia, acute myeloid; 601626; ARHGEF12
Leukemia, acute myeloid; 601626; CEBPA
FLT3
KIT
Leukemia, acute myeloid; 601626; LPP
Leukemia, acute myeloid; 601626; NPM1
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
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
ITGB2
Leukocyte adhesion deficiency, type III; 612840; KIND3
LMNB1
Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia; 612443; FA2H
Leukodystrophy, hypomyelinating, 2; 608804; GJC2
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
LHCGR
LHCGR
LHCGR
Lhermitte–Duclos syndrome; 158350; PTEN
Liddle syndrome; 177200; SCNN1B

Liddle syndrome; 177200; SCNN1G

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
LMNA
PPARG
LMNB2
Lipoid adrenal hyperplasia; 201710; STAR
Lipoid congenital adrenal hyperplasia; 201710; CYP11A
ECM1
Lipoprotein glomerulopathy; 611771; APOE
Lipoprotein lipase deficiency; 238600; LPL
TUBA1A
RELN
Lissencephaly, X-linked 2; 300215; ARX
Lissencephaly, X-linked; 300067; DCX
Lissencephaly-1; 607432; PAFAH1B1
Liver failure, acute infantile; 613070; TRMU
TGFBR1
TGFBR2
TGFBR1
TGFBR2
Long QT syndrome 12; 612955; SNT1
Long QT syndrome 13; 613485; KCNJ5
KCNQ1
Long QT syndrome-10; 611819; SCN4B
Long QT syndrome-11; 611820; AKAP9
Long QT syndrome-3; 603830; SCN5A
ANK2
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
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
PRF1
Lymphoma, non-Hodgkin, somatic; 605027; RAD54L
Lymphoproliferative syndrome, EBV-associated, autosomal, 1; 613011; ITK
BIRC4
Lymphoproliferative syndrome, X-linked; 308240; SH2D1A
SLC7A7
Lysosomal acid phosphatase deficiency; 200950; ACP2
Lysyl hydroxylase 3 deficiency; 612394; PLOD3
ATXN3
Macrocephaly, alopecia, cutis laxa, and scoliosis; 613075; RIN2
Macrocephaly/autism syndrome; 605309; PTEN
RPS14
Macrothrombocytopenia and progressive sensorineural deafness; 600208; MYH9
Macrothrombocytopenia; 300367; GATA1

Macrothrombocytopenia, autosomal dominant, TUBB1-related; 613112; TUBB1
Macular corneal dystrophy; 217800; CHST6
CST3
Macular degeneration, age-related, 2; 153800; ABCA4
Macular degeneration, age-related, 3; 608895; FBLN5
CNGB3
Macular dystrophy, autosomal dominant, chromosome 6-linked; 600110; ELOVL4
PRPH2
PROM1
PRPH2
Majeed syndrome; 609628; LPIN2
Major depressive disorder 1; 608516; MDD1
Major depressive disorder 2; 608516; MDD2
STK13
CATSPER1
MLYCD
Mandibuloacral dysplasia with type B lipodystrophy; 608612; ZMPSTE24
LMNA
Mannosidosis, alpha-, types I and II; 248500; MAN2B1
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
FBN1
Marinesco–Sjögren syndrome; 248800; SIL1
ARSB
COL11A1
Martsolf syndrome; 212720; RAB3GAP2
L1CAM
FBN1
ACP33
Maturity-onset diabetes of the young 6; 606394; NEUROD1
INS
BLK
Maturity-onset diabetes of the young, type IX; 612225; PAX4
Maturity-onset diabetes of the young, type VII; 610508; KLF11
CEL
May–Hegglin anomaly; 155100; MYH9
McArdle disease; 232600; PYGM

McCune–Albright syndrome; 174800; GNAS
McKusick–Kaufman syndrome; 236700; MKKS
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
UMOD
Medullary thyroid carcinoma; 155240; RET

Medulloblastoma; 155255; PTCH2
Medulloblastoma, desmoplastic; 155255; SUFU
KRT12
KRT3
Megalencephalic leukoencephalopathy with subcortical cysts; 604004; MLC1
CUBN
AMN
CDKN2A
CDK4
CDKN2A
Meleda disease; 248300; SLURP1
Melnick–Needles syndrome; 309350; FLNA
LEMD3
HF1
Meningioma; 607174; MN1
NF2
Menkes disease; 309400; ATP7A
Mental retardation and microcephaly with pontine and cerebellar hypoplasia; 300749; CASK
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
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
TM4SF2
Mental retardation, X-linked 59; 300630; AP1S2
BRWD3
Mental retardation, X-linked 94; 300699; GRIA3
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
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
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
CYP2C
Metachondromatosis; 156250; PTPN11
Metachromatic leukodystrophy due to SAP-b deficiency; 249900; PSAP
ARSA
MMP13
Metaphyseal anadysplasia 2; 613073; MMP9
PTHR1
Metaphyseal dysplasia without hypotrichosis; 250460; RMRP
Metatropic dysplasia; 156530; TRPV4

Methemoglobinemia, type I; 250800; CYB5R3
Methemoglobinemia, type II; 250800; CYB5R3
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
MVK
MHC class II deficiency, complementation group B; 209920; RFXANK
SLC25A3
Microcephalic osteodysplastic primordial dwarfism type II; 210720; PCNT
MYCN
SLC25A19
MCPH1
MCPH2
Microcephaly, primary autosomal recessive, 3; 604804; CDK5RAP2
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
BEST1
CHX10
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
CHX10
SHH
Microphthalmia, syndromic 2; 300166; BCOR
Microphthalmia, syndromic 3; 206900; SOX2
OTX2
BMP4
Microphthalmia, syndromic 7; 309801; HCCS
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
EDNRA
DHODH
RYR1
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
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
C10orf2
Mitochondrial DNA depletion syndrome, hepatocerebral form; 251880; MPV17
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
DYSF
MNGIE without leukoencephalopathy; 603041; POLG
HNF4A
MODY, type II; 125851; GCK
MODY, type III; 600496; HNF1A
IPF1
Mohr–Tranebjærg syndrome; 304700; TIMM8A
Molybdenum cofactor deficiency, type A; 252150; MOCS1
Molybdenum cofactor deficiency, type B; 252150; MOCS2
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
GNPTAB
GNPTAB
Mucolipidosis III gamma; 252605; GNPTAG
Mucolipidosis IV; 252650; MCOLN1

Mucopolysaccharidosis type IX; 601492; HYAL1

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
PHKA1
PLEC1
LAMA2
ITGA7
LAMA2
TTID
LMNA
CAPN3
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
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
IFNGR1
Mycobacterial infection, atypical, familial disseminated; 209950; STAT1
JAK2
Myeloperoxidase deficiency; 254600; MPO
Myeloproliferative disorder with eosinophilia; 131440; PDGFRB
GABRG2
Myoglobinuria, acute recurrent, autosomal recessive; 268200; LPIN1
KCNQ2
Myopathy due to CPT II deficiency; 255110; CPT2
Myopathy with lactic acidosis, hereditary; 255125; ISCU
ACTA1
Myopathy, cardioskeletal, desmin-related, with cataract; 608810; CRYAB
Myopathy, centronuclear; 160150; DNM2
Myopathy, centronuclear; 160150; MYF6
Myopathy, centronuclear, autosomal recessive; 255200; BIN1
CNTN1
ACTA1
Myopathy, desmin-related, cardioskeletal; 601419; DES
Myopathy, distal 2; 606070; MATR3
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
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
TTID
Myopathy, X-linked, with postural muscle atrophy; 300696; FHL1
COL6A2
TTID
SCN4A
Myotonia congenita, dominant; 160800; CLCN1
Myotonia congenita, recessive; 255700; CLCN1
DMPK
ZNF9
MTM1
DDIT3
Myxoma, intracardiac; 255960; PRKAR1A
N syndrome; 310465; POLA
NAGS
KRT14
Nail–patella syndrome; 161200; LMX1B
Nance–Horan syndrome; 302350; NHS
HCRT
TP53
Nasu–Hakola disease; 221770; TREM2
Nasu–Hakola disease; 221770; TYROBP
JUP
TPM3
Nemaline myopathy 2, autosomal recessive; 256030; NEB
CFL2
Nemaline myopathy; 609285; TPM2
Nemaline myopathy, Amish type; 605355; TNNT1

Nephrolithiasis, type I; 310468; CLCN5
SLC34A1
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
LAMB2
NPHS1
PDCN
Nephrotic syndrome, type 3; 610725; PLCE1
WT1
SPINK5
Neural tube defect; 182940; VANGL1
Neuroblastoma; 256700; NME1
FOLR1
PANK2
Neurodegeneration with brain iron accumulation 2B; 610217; PLA2G6
Neurodegeneration with brain iron accumulation 3; 606159; FTL
EWSR1
Neurofibromatosis, familial spinal; 162210; NF1
Neurofibromatosis type 1; 162200; NF1

Neurofibromatosis-Noonan syndrome; 601321; NF1

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
HSPB1
Neuropathy, distal hereditary motor, type V; 600794; BSCL2
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
NGFB
Neuropathy, hereditary sensory, with spastic paraplegia; 256840; CCT5
Neuropathy, hereditary sensory/autonomic, type IC; 613640; SPTLC2
PMP22
PNPLA2
Neutropenia, nonimmune chronic idiopathic, of adults; 607847; GFI1
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
WAS
Neutrophil immunodeficiency syndrome; 608203; RAC2
CSF3R
Nevo syndrome; 601451; PLOD
PIK3CA
KRT10
FGFR3
RLBP1
SMPD1
SMPD1
Niemann–Pick disease, type C1; 257220; NPC1
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
GRM6
Night blindness, congenital stationary, type 2B; 610427; CABP4
Night blindness, congenital stationary, type IC; 613216; TRPM1
CACNA1F
RHO
NBS1
RAD50
Nonaka myopathy; 605820; GNE

Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in; 211980; EGFR
Nonsmall cell lung cancer, somatic; 211980; IRF1
PIK3CA
Noonan syndrome 1; 163950; PTPN11
Noonan syndrome 3; 609942; KRAS
Noonan syndrome 4; 610733; SOS1
RAF1
Noonan syndrome 6; 613224; NRAS
Noonan-like syndrome with loose anagen hair; 607721; SHOC2
NDP
LCAT
Nystagmus 1, congenital, X-linked; 310700; FRMD7
Nystagmus 6, congenital, X-linked; 300814; GPR143
PCSK1
POMC
MC4R
NR0B2
PPARG
Obesity, severe; 601665; SIM1
Occipital horn syndrome; 304150; ATP7A
Ocular albinism, type I, Nettleship-Falls type; 300500; GPR143
Oculoauricular syndrome; 612109; HMX1
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
GRK1
COL1A1
COL1A1
COL1A1
Oligodontia-colorectal cancer syndrome; 608615; AXIN2
DCLRE1C
Omenn syndrome; 603554; RAG1
Omenn syndrome; 603554; RAG2
GPC6
Opitz G syndrome, type I; 300000; MID1
Opitz–Kaveggia syndrome; 305450; MED12

Optic atrophy and cataract; 165300; OPA3
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
BMP4
MSX1
Orofacial cleft 6; 608864; IRF6
Orofacial cleft 7; 225060; HVEC
Orofacial cleft 8; 129400; TP63
SLC6A2
Osseous heteroplasia, progressive; 166350; GNAS
ENPP1
COL2A1
Osteochondritis dissecans, short stature, and early-onset osteoarthritis; 165800; ACAN
COL1A1
COL1A2
CRTAP
COL1A2
COL1A2
Osteogenesis imperfecta, type IX; 259440; PPIB
Osteogenesis imperfecta, type VI; 610698; FKBP10
CRTAP
LEPRE1
FGFR1
TNFRSF11A
Osteopathia striata with cranial sclerosis; 300373; FAM123B
Osteopetrosis, AD type I; 607634; LRP5
Osteopetrosis, autosomal dominant 2; 166600; CLCN7
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
TNFRSF11A
Osteopetrosis, recessive 1; 259700; TCIRG1
LEMD3
Osteoporosis, involutional; 166710; VDR
Osteoporosis-pseudoglioma syndrome; 259770; LRP5
Osteosarcoma; 259500; LOH18CR1
RB1
TP53
Osteosarcoma, somatic; 259500; CHEK2
Osteosclerosis; 144750; LRP5
EYA1
Otopalatodigital syndrome, type I; 311300; FLNA
Otopalatodigital syndrome, type II; 304120; FLNA
COL11A2
CTNNB1
Ovarian cancer, somatic; 604370; AKT1
PIK3CA
FSHR
BMP15
FSHR
FSHR
Ovarioleukodystrophy; 603896; EIF2B2

Ovarioleukodystrophy; 603896; EIF2B4

Ovarioleukodystrophy; 603896; EIF2B5

Paget disease of bone; 602080; PDB4

Pallister–Hall syndrome; 146510; GLI3
RSPO1
RSPO1
KRT16
KRT16
KRT16
IPF1
TP53
Pancreatic cancer; 613347; BRCA2
CDKN2A
Pancreatic carcinoma, somatic; 260350; KRAS
PRSS1
Pancreatitis, hereditary; 167800; SPINK1

Panhypopituitarism, X-linked; 312000; SOX3
Papillon–Lefèvre syndrome; 245000; CTSC
Paraganglioma and gastric stromal sarcoma; 606864; SDHB
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
SDHC
SCN4A
HRPT2
HRPT2
MSX2
Parietal foramina 2; 609597; ALX4
MSX2
RASA1
Parkinson disease 11; 607688; GIGYF2
HTRA2
Parkinson disease 15, autosomal recessive; 260300; FBXO7
Parkinson disease 4; 605543; SNCA
Parkinson disease 6, early onset; 605909; PINK1
DJ1
Parkinson disease 9; 606693; ATP13A2
PRKN
Parkinson disease-8; 607060; LRRK2
SLC6A3
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
PLP1
SLC26A4
DCXR
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
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
FGFR1
FGFR2
Phenylketonuria; 261600; PAH
Pheochromocytoma; 171300; KIF1B
Pheochromocytoma; 171300; RET
Pheochromocytoma; 171300; SDHB
Pheochromocytoma; 171300; SDHD
VHL
PHGDH
Phosphoglycerate kinase 1 deficiency; 300653; PGK1

Phosphorylase kinase deficiency of liver and muscle, autosomal recessive; 261750; PHKB
Phosphoserine aminotransferase deficiency; 610992; PSAT1
MAPT
PSEN1
Piebaldism; 172800; SNAI2
LAMB2
Pigmented adrenocortical disease, primary, 1; 610489; PRKAR1A
Pigmented nodular adrenocortical disease, primary, 2; 610475; PDE11A
Pigmented paravenous chorioretinal atrophy; 172870; CRB1
CTNNB1
Pitt–Hopkins-like syndrome 1; 610042; CNTNAP2
Pitt–Hopkins syndrome; 610954; TCF4
AIP
AIP
AIP
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
KRT1
PAI1
Platelet disorder, familial, with associated myeloid malignancy; 601399; RUNX1
Platelet glycoprotein IV deficiency; 608404; CD36
DICER1
FLCN
Poikiloderma with neutropenia; 604173; C16orf57
Polycystic kidney and hepatic disease; 263200; FCYT
PKD2
PKD1
Polycystic liver disease; 174050; PRKCSH
Polycystic liver disease; 174050; SEC63
Polycystic ovary syndrome; 184700; FST
JAK2
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

Primary lateral sclerosis, juvenile; 606353; ALS2
PRNP
Progesterone resistance; 264080; PGR
SLC25A4
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
CYP2C
Prolidase deficiency; 170100; PEPD
Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome; 225790; FLVCR2
Properdin deficiency, X-linked; 312060; PFC
Propionicacidemia; 606054; PCCA
PCCB
RNASEL
Prostate cancer; 176807; BRCA2
Prostate cancer, hereditary; 176807; MSR1
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
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
GGCX
Ptosis, congenital; 178300; ZFHX4
SLC34A2
CSF2RA
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

Pyogenic bacterial infections, recurrent, due to MYD88 deficiency; 612260; MYD88
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne; 604416; PSTPIP1
PNPO
SPTA1
Pyruvate carboxylase deficiency; 266150; PC
PDHA1
DLAT
Pyruvate dehydrogenase phosphatase deficiency; 608782; PDP1
PKLR
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
PEX7
PHYH
Refsum disease, infantile form; 266510; PEX26

Refsum disease, infantile; 266510; PEX1
UPK3A
Renal agenesis; 191830; RET
FLCN
Renal cell carcinoma; 144700; DIRC2
Renal cell carcinoma; 144700; HNF1A
Renal cell carcinoma; 144700; RNF139
OGG1
Renal cell carcinoma, papillary, 1; 605074; PRCC
Renal cell carcinoma, papillary, 1; 605074; TFE3
MET
VHL
Renal cysts and diabetes syndrome; 137920; HNF1B
SLC5A2
Renal tubular acidosis with deafness; 267300; ATP6B1
SLC4A1
SLC4A1
Renal tubular acidosis, distal, autosomal recessive; 602722; ATP6V0A4

Renal tubular dysgenesis; 267430; ACE
AGT
AGTR1
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
SNRNP200
Retinitis pigmentosa 51; 613464; TTC8
Retinitis pigmentosa 54; 613428; C2orf71
Retinitis pigmentosa 55; 613575; ARL6
Retinitis pigmentosa 58; 613617; ZNF513
BEST1
PRPH2
Retinitis pigmentosa, juvenile; 613341; LRAT
Retinitis pigmentosa, juvenile, autosomal recessive; 268000; SPATA7
Retinitis pigmentosa, late-onset dominant; 268000; CRX
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
EYS
Retinitis pigmentosa-26; 608380; CERKL
RPGR
Retinitis pigmentosa-30; 607921; FSCN2
Retinitis pigmentosa-31; 609923; TOPORS
Retinitis pigmentosa-35; 610282; SEMA4A
Retinitis pigmentosa-36; 610599; PRCD
NR2E3
Retinitis pigmentosa-38; 268000; MERTK
Retinitis pigmentosa-39; 268000; USH2A
PROM1
KLHL7
Retinitis pigmentosa-45; 268000; CNGB1
BEST1
PRPH2
Retinitis pigmentosa-9; 180104; RP9
PRPH2
RLBP1
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
FOXO1A
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
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
PMP22
CREBBP
Rubinstein–Taybi syndrome; 180849; EP300
AASS
TWIST1
FGFR2
TWIST1
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
NAGA
NAGA
Schinzel–Giedion midface retraction syndrome; 269150; SETBP1
Schizencephaly; 269160; EMX2
Schizophrenia; 181500; DISC2
Schneckenbecken dysplasia; 269250; SLC35D1
Schöpf–Schulz–Passarge syndrome; 224750; WNT10A
NF2
HSPG2
SOST
Sea-blue histiocyte disease; 269600; APOE
Sebastian syndrome; 605249; MYH9
Seborrhea-like dermatitis with psoriasiform elements; 610227; ZNF750
Seckel syndrome 1; 210600; ATR
COL2A1
Segawa syndrome, recessive; 605407; TH
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
NHEJ1
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
CD3E
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; PTPRC
IL7R
IL2RG
KCNH2
KCNQ1
KCNJ2
Short rib-polydactyly syndrome, type III; 263510; DYNC2H1
GHSR
SHOX
Short stature, idiopathic familial; 300582; SHOXY
Short stature, idiopathic; 604271; GHR
FBN1
Shwachman–Bodian–Diamond syndrome; 260400; SBDS

Sialuria; 269921; GNE
Sick sinus syndrome 1; 608567; SCN5A
Sick sinus syndrome 2; 163800; HCN4
HBB
Silver spastic paraplegia syndrome; 270685; BSCL2
Silver–Russell syndrome; 180860; H19
GPC3
Simpson-Golabi-Behmel syndrome, type 2; 300209; OFD1
Sitosterolemia; 210250; ABCG5
Sitosterolemia; 210250; ABCG8
ALDH3A2
ZBTB16
Skin fragility-woolly hair syndrome; 607655; DSP
ASIP
Slowed nerve conduction velocity, AD; 608236; ARHGEF10
Small patella syndrome; 147891; TBX4

Smith–Magenis syndrome; 182290; RAI1
Smith–McCort dysplasia; 607326; DYM
Snowflake vitreoretinal degeneration; 193230; KCNJ13
SHH
SSTR5
Sorsby fundus dystrophy; 136900; TIMP3
Sotos syndrome; 117550; NSD1
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
PNPLA6
Spastic paraplegia, 44; 613206; GJC2
Spastic paraplegia-11; 604360; SPG11
HSPD1
PLP1
SPG3A
SPAST
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
EPB42
ANK1
SPTA1
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
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
TBP
Spinocerebellar ataxia 28; 610246; AFG3L2
Spinocerebellar ataxia 31; 117210; BEAN
Spinocerebellar ataxia 8; 608768; ATXN8OS
ATXN8
Spinocerebellar ataxia with epilepsy; 607459; POLG
ZNF592
SYNE1
CABC1
Spinocerebellar ataxia, autosomal recessive with axonal neuropathy; 607250; TDP1
C10orf2
ATXN1
ATXN10
Spinocerebellar ataxia-11; 604432; TTBK2
Spinocerebellar ataxia-13; 605259; KCNC3
ATXN2
Spinocerebellar ataxia-27; 609307; FGF14
Spinocerebellar ataxia-5; 600224; SPTBN2
CACNA1A
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
MATN3
Spondyloepimetaphyseal dysplasia, aggrecan type; 612813; ACAN
MMP13
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
DDR2
Spondylometaphyseal dysplasia, Kozlowski type; 184252; TRPV4
COL2A1
Squamous cell carcinoma, head and neck; 275355; ING1
TNFRSF10B
NOG
STAR syndrome; 300707; FAM58A
Stargardt disease 3; 600110; ELOVL4
PROM1
Stargardt disease-1; 248200; ABCA4
GLRA1
KRT17
COL2A1
COL11A1
COL11A2
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
NUP62
LIFR
Subcortical laminal heteropia, X-linked; 300067; DCX
ALDH5A1
Succinyl-CoA:3-oxoacid CoA transferase deficiency; 245050; OXCT1
SI
Sudden infant death with dysgenesis of the testes syndrome; 608800; TSPYL1
Sulfite oxidase deficiency; 272300; SUOX

Supravalvar aortic stenosis; 185500; ELN

Surfactant metabolism dysfunction, pulmonary, 3; 610921; ABCA3
Sveinsson choreoretinal atrophy; 108985; TEAD1
Symphalangism, proximal; 185800; GDF5
NOG
Syndactyly, type III; 186100; GJA1
Syndactyly, type IV; 186200; LMBR1
Syndactyly, type V; 186300; HOXD13
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
NOG
Tay–Sachs disease; 272800; HEXA
T-cell immunodeficiency, congenital alopecia, and nail dystrophy; 601705; FOXN1
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, Hispanic gamma-delta-beta; 604131; LCRB
HBB
HBA1
HBB
FGFR3
SLC19A2
Three M syndrome 2; 612921; OBSL1
JAK2
MPL
Thrombocythemia, essential; 187950; THPO

Thrombocytopenia 4; 612004; CYCS
Thrombocytopenia with beta-thalassemia, X-linked; 314050; GATA1
MPL
WAS
WAS
Thrombocytopenia-2; 188000; FLJ14813
Thrombocytopenic purpura, autoimmune; 188030; FCGR2C

Thrombophilia due to heparin cofactor II deficiency; 612356; HCF2
HRG
Thrombophilia due to protein C deficiency, autosomal dominant; 176860; PROC
Thrombophilia due to protein C deficiency, autosomal recessive; 612304; PROC
PROS1
PLAT
Thrombophilia, X-linked, due to factor IX defect; 300807; F9
Thrombosis, hyperhomocysteinemic; 236200; CBS
Thrombotic thrombocytopenic purpura, familial; 274150; ADAMTS13
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
SLC5A5
Thyroid dyshormonogenesis 2A; 274500; TPO
Thyroid dyshormonogenesis 3; 274700; TG
IYD
Thyroid dyshormonogenesis 5; 274900; DUOXA2
Thyroid hormone metabolism, abnormal; 609698; SECISBP2
THRB
THRB
THRB
Thyroid papillary carcinoma; 188550; CCDC6

Tibial muscular dystrophy, tardive; 600334; TTN
MITF
CACNA1C
Tn syndrome; 300622; C1GALT1C1
COL7A1
MSX1
Tooth agenesis, selective, 3; 604625; PAX9
Tooth agenesis, selective, 6; 613097; LTBP3
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
COL7A1
Transposition of the great arteries, dextro-looped 1; 608808; MED13L
TCOF1
Trehalase deficiency; 612119; TREH
Trichodentoosseous syndrome; 190320; DLX3

Trichoepithelioma, multiple familial, 1; 601606; CYLD1
TRPS1
TRPS1
Trichothiodystrophy; 601675; ERCC2
ERCC3
Trichothiodystrophy, complementation group A; 601675; GTF2H5
C7orf11
Trichotillomania; 613229; SLITRK1
Trifunctional protein deficiency; 609015; HADHA

Trifunctional protein deficiency; 609015; HADHB

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
KL
FGF23
Tumoral calcinosis, hyperphosphatemic, familial; 211900; GALNT3
TYK2
Tyrosinemia type II; 277660; TAT
HPD
COL6A1
COL6A2
COL6A3
Ulna and fibula, absence of, with severe limb deficiency; 276820; WNT7A
Ulnar–mammary syndrome; 181450; TBX3
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
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
RYR2
CASQ2
Ventricular tachycardia, idiopathic; 192605; GNAI2
Vertical talus, congenital; 192950; HOXD10
Vesicoureteral reflux 2; 610878; ROBO2
VEXAS; 301054; UBA1

Vitamin K-dependent clotting factors, combined deficiency of, 2; 607473; VKORC1
GGCX
BEST1
BEST1
VLCAD deficiency; 201475; ACADVL

Vohwinkel syndrome with ichthyosis; 604117; LOR
Vohwinkel syndrome; 124500; GJB2

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 4C; 613266; SOX10

Waardenburg syndrome/albinism, digenic; 103470; TYR
MITF
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
FBN1
Weill–Marchesani syndrome, recessive; 277600; ADAMTS10
Weill–Marchesani-like syndrome; 613195; ADAMTS17
COL11A2
RECQL2
Weyers acrodental dysostosis; 193530; EVC
WHIM syndrome; 193670; CXCR4
KRT13
KRT4
Wilms' tumor 2; 194071; H19
Wilms' tumor; 194070; BRCA2
GPC3
WT1
ATP7B
WAS
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
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 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

XFE progeroid syndrome; 610965; ERCC4
X-inactivation, familial skewed; 300087; XIC
Zellweger syndrome; 214100; PEX10
Zellweger syndrome; 214100; PEX13
Zellweger syndrome; 214100; PEX14
Zellweger syndrome; 214100; PEX26
Zellweger syndrome; 214100; PEX5
Zellweger syndrome; 214100; PXF
Zellweger syndrome, complementation group G; 214100; PEX3
Zellweger syndrome-1; 214100; PEX1

External links

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

Retrieved from "https://en.wikipedia.org/w/index.php?title=List_of_OMIM_disorder_codes&oldid=1216863529"