List of OMIM disorder codes

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

Isolated 17,20-lyase deficiency; ; CYP17A1
17-alpha-hydroxylase/17,20-lyase deficiency; ; CYP17A1
17-beta-hydroxysteroid dehydrogenase X deficiency; ; HSD17B10
2-methylbutyrylglycinuria; ; ACADSB
3-hydroxyacyl-coa dehydrogenase deficiency; ; HADHSC
3-hydroxyisobutryl-CoA hydrolase deficiency; ; HIBCH
3-M syndrome; ; CUL7
3-Methylcrotonyl-CoA carboxylase 1 deficiency; ; MCCC1
3-Methylcrotonyl-CoA carboxylase 2 deficiency; ; MCCC2
3-Methylglutaconic aciduria type I; ; AUH
3-Methylglutaconic aciduria type III; ; OPA3
3-Methylglutaconic aciduria type V; ; DNAJC19
46XX true hermaphroditism; ; SRY
46XY complete gonadal dysgenesis; ; DHH
46XY complete gonadal dysgenesis; ; SRY
46XY gonadal dysgenesis, complete or partial, with or without adrenal failure; ; NR5A1
46XY gonadal dysgenesis, complete, CBS2-related; ; CBX2
46XY partial gonadal dysgenesis, with minifascicular neuropathy; ; DHH
5-fluorouracil toxicity; ; DPYD
6-mercaptopurine sensitivity; ; TPMT
Aarskog–Scott syndrome; ; FGD1
ABCD syndrome; ; EDNRB
Abetalipoproteinemia; ; MTP
ACAD9 deficiency; ; ACAD9
Acampomelic campomelic dysplasia; ; SOX9
Achalasia-Addisonianism-Alacrimia syndrome; ; AAAS
Acheiropody; ; LMBR1
Achondrogenesis Ib; ; SLC26A2
Achondrogenesis type 1A; ; TRIP11
Achondrogenesis-hypochondrogenesis type 2; ; COL2A1
Achondroplasia; ; FGFR3
Achromatopsia-2; ; CNGA3
Achromatopsia-3; ; CNGB3
Acrocallosal syndrome; ; GLI3
Acrocapitofemoral dysplasia; ; IHH
Acrodermatitis enteropathica; ; SLC39A4
Acrokeratosis verruciformis; ; ATP2A2
Acromesomelic dysplasia, Hunter-Thompson type; ; GDF5
Acromesomelic dysplasia, Maroteaux type; ; NPR2
Action myoclonus-renal failure syndrome; ; SCARB2
Acyl-CoA dehydrogenase, long chain, deficiency of; ; ACADL
Acyl-CoA dehydrogenase, medium chain, deficiency of; ; ACADM
Acyl-CoA dehydrogenase, short chain, deficiency of; ; ACADS
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in; ; EGFR
Adenocarcinoma of lung, somatic; ; BRAF
Adenocarcinoma of lung, somatic; ; ERBB2
Adenocarcinoma of lung, somatic; ; PRKN
Adenocarcinoma, ovarian, somatic; ; PRKN
Adenomas, multiple colorectal; ; MUTYH
Adenomas, salivary gland pleomorphic; ; PLAG1
Adenomatous polyposis coli; ; APC
Adenosine deaminase deficiency, partial; ; ADA
Adenosine triphosphate, elevated, of erythrocytes; ; PKLR
Adenylosuccinase deficiency; ; ADSL
Adiponectin deficiency; ; ADIPOQ
Adrenal cortical carcinoma; ; TP53
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; ; CYP11B1
Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency; ; POR
Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; ; DAX1
Adrenocorticotropic hormone deficiency; ; TBS19
Adrenoleukodystrophy; ; ABCD1
Adrenoleukodystrophy, neonatal; ; PEX1
Adrenoleukodystrophy, neonatal; ; PEX10
Adrenoleukodystrophy, neonatal; ; PEX13
Adrenoleukodystrophy, neonatal; ; PEX26
Adrenoleukodystrophy, neonatal; ; PEX5
Adrenomyeloneuropathy; ; ABCD1
Adult i phenotype with congenital cataract; ; GCNT2
Adult i phenotype without cataract; ; GCNT2
ADULT syndrome; ; TP63
Advanced sleep phase syndrome, familial; ; PER2
Afibrinogenemia, congenital; ; FGA
Afibrinogenemia, congenital; ; FGB
Agammaglobulinemia 1; ; IGHM
Agammaglobulinemia 2; ; IGLL1
Agammaglobulinemia 4; ; BLNK
Agammaglobulinemia 5; ; LRRC8A
Agammaglobulinemia and isolated hormone deficiency; ; BTK
Agammaglobulinemia, type 1, X-linked; ; BTK
; ; GATM
Agenesis of the corpus callosum with peripheral neuropathy; ; SLC12A6
Aicardi–Goutières syndrome 1, dominant and recessive; ; TREX1
Aicardi–Goutières syndrome 2; ; RNASEH2B
Aicardi–Goutières syndrome 3; ; RNASEH2C
Aicardi–Goutières syndrome 4; ; RNASEH2A
Aicardi–Goutières syndrome 5; ; SAMHD1
AICA-ribosiduria due to ATIC deficiency; ; ATIC
Alagille syndrome 2; ; NOTCH2
Alagille syndrome; ; JAG1
Aland Island eye disease; ; CACNA1F
Albinism, brown oculocutaneous; ; OCA2
Albinism, brown; ; TYRP1
Albinism, oculocutaneous, type IA; ; TYR
Albinism, oculocutaneous, type IB; ; TYR
Albinism, oculocutaneous, type II; ; OCA2
Albinism, rufous; ; TYRP1
Alcohol sensitivity, acute; ; ALDH2
Aldosteronism, glucocorticoid-remediable; ; CYP11B1
Alexander disease; ; GFAP
Alexander disease; ; NDUFV1
Alkaptonuria; ; HGD
Allan–Herndon–Dudley syndrome; ; SLC16A2
Alopecia universalis; ; HR
Alopecia, neurologic defects, and endocrinopathy syndrome; ; RBM28
Alpers syndrome; ; POLG
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; ; RAG1
Alpha-2-plasmin inhibitor deficiency; ; PLI
Alpha-ketoglutarate dehydrogenase deficiency; ; OGDH
Alpha-methylacetoacetic aciduria; ; ACAT1
Alpha-thalassemia myelodysplasia syndrome, somatic; ; ATRX
Alpha-thalassemia mental retardation syndrome; ; ATRX
Alport syndrome; ; COL4A5
Alport syndrome, autosomal recessive; ; COL4A3
Alport syndrome, autosomal recessive; ; COL4A4
Alström syndrome; ; ALMS1
Alternating hemiplegia of childhood; ; ATP1A2
Alveolar capillary dysplasia with misalignment of pulmonary veins; ; FOXF1
Alveolar soft part sarcoma; ; ASPSCR1
Alzheimer disease 1, familial; ; APP
Alzheimer disease 6; ; AD6
Alzheimer disease 8; ; AD8
Alzheimer disease, late-onset, susceptibility to; ; NOS3
Alzheimer disease, type 3; ; PSEN1
Alzheimer disease, type 3, with spastic paraparesis and apraxia; ; PSEN1
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; ; PSEN1
Alzheimer disease-10; ; AD10
Alzheimer disease-2; ; APOE
Alzheimer disease-4; ; PSEN2
Alzheimer disease-5; ; AD5
Amelogenesis imperfecta, hypomaturation type, IIA3; ; WDR72
Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; ; DLX3
Amelogenesis imperfecta, hypoplastic/hypomaturation type; ; AMELX
Amelogenesis imperfecta, type 3; ; FAM83H
Amelogenesis imperfecta, type IB; ; ENAM
Amelogenesis imperfecta, type IC; ; ENAM
Amelogenesis imperfecta, type IIA1; ; KLK4
Amelogenesis imperfecta, type IIA2; ; MMP20
Aminoacylase 1 deficiency; ; ACY1
Amish infantile epilepsy syndrome; ; SIAT9
Amyloidosis, 3 or more types; ; APOA1
Amyloidosis, Finnish type; ; GSN
Amyloidosis, hereditary renal; ; FGA
Amyloidosis, hereditary, transthyretin-related; ; TTR
Amyloidosis, primary localized cutaneous; ; OSMR
Amyloidosis, renal; ; LYZ
Amyotrophic lateral sclerosis 10, with or without FTD; ; TARDBP
Amyotrophic lateral sclerosis 11; ; FIG4
Amyotrophic lateral sclerosis 4, juvenile; ; SETX
Amyotrophic lateral sclerosis 6, autosomal recessive; ; FUS
Amyotrophic lateral sclerosis 8; ; VAPB
Amyotrophic lateral sclerosis 9; ; ANG
Amyotrophic lateral sclerosis, due to SOD1 deficiency; ; SOD1
Amyotrophic lateral sclerosis, juvenile; ; ALS2
Amyotrophy, hereditary neuralgic; ; 40430
Amytrophic lateral sclerosis 12; ; OPTN
Anauxetic dysplasia; ; RMRP
Androgen insensitivity syndrome; ; AR
Androgen insensitivity, partial, with or without breast cancer; ; AR
Anemia, congenital dyserythropoietic, type I; ; CDAN1
Anemia, dyserythropoietic congenital, type II; ; SEC23B
Anemia, hemolytic, due to UMPH1 deficiency; ; NT5C3
Anemia, hemolytic, Rh-null, regulator type; ; RHAG
Anemia, hypochromic microcytic; ; NRAMP2
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; ; GLRX5
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; ; SLC25A38
Anemia, sideroblastic, with ataxia; ; ABCB7
Anemia, sideroblastic, X-linked; ; ALAS2
Angelman syndrome; ; MECP2
Angelman syndrome; ; UBE3A
Angelman syndrome-like; ; CDKL5
Angioedema, hereditary, type III; ; F12
Angioedema, hereditary, types I and II; ; C1NH
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; ; COL4A1
Aniridia; ; PAX6
Anonychia congenita; ; RSPO4
Anterior segment mesenchymal dysgenesis; ; FOXE3
Anterior segment mesenchymal dysgenesis; ; PITX3
Antithrombin III deficiency; ; AT3
Antley–Bixler syndrome; ; FGFR2
Antley–Bixler syndrome-like with disordered steroidogenesis; ; POR
Anxiety-related personality traits; ; SLC6A4
Aortic aneurysm, familial thoracic 4; ; MYH11
Aortic aneurysm, familial thoracic 6; ; ACTA2
Aortic valve disease; ; NOTCH1
Apert syndrome; ; FGFR2
Aphakia, congenital primary; ; FOXE3
Aplasia of lacrimal and salivary glands; ; FGF10
Aplastic anemia; ; TERC
Argininemia; ; ARG1
Argininosuccinic aciduria; ; ASL
Aromatase deficiency; ; CYP19A1
Aromatase excess syndrome; ; CYP19A1
Aromatic L-amino acid decarboxylase deficiency; ; DDC
Arrhythmogenic right ventricular dysplasia 1; ; TGFB3
Arrhythmogenic right ventricular dysplasia 2; ; RYR2
Arrhythmogenic right ventricular dysplasia 5; ; LAMR1
Arrhythmogenic right ventricular dysplasia 8; ; DSP
Arrhythmogenic right ventricular dysplasia, familial, 10; ; DSG2
Arrhythmogenic right ventricular dysplasia, familial, 11; ; DSC2
Arrhythmogenic right ventricular dysplasia, familial, 12; ; JUP
Arrhythmogenic right ventricular dysplasia, familial, 5; ; TMEM43
Arrhythmogenic right ventricular dysplasia, familial, 9; ; PKP2
Arterial calcification, generalized, of infancy; ; ENPP1
Arterial tortuosity syndrome; ; SLC2A10
Arthrogryposis multiplex congenita, distal type 1; ; TPM2
Arthrogryposis multiplex congenita, distal type 2B; ; TNNI2
Arthrogryposis, distal, type 2A; ; MYH3
Arthrogryposis, distal, type 2B; ; MYH3
Arthrogryposis, distal, type 2B; ; TPM2
Arthrogryposis, lethal, with anterior horn cell disease; ; GLE1
Arthrogryposis, renal dysfunction, and cholestasis 1; ; VPS33B
Arthrogryposis, renal dysfunction, and cholestasis 2; ; VIPAR
Arthropathy, progressive pseudorheumatoid, of childhood; ; WISP3
Arthyrgryposis, distal, type 2B; ; TNNT3
Arts syndrome; ; PRPS1
Aspartylglucosaminuria; ; AGA
Asphyxiating thoracic dystrophy 2; ; IFT80
Asphyxiating thoracic dystrophy 3; ; DYNC2H1
Asthma and nasal polyps; ; TBX21
Ataxia with isolated vitamin E deficiency; ; TTPA
Ataxia, cerebellar, Cayman type; ; ATCAY
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; ; APTX
Ataxia–ocular apraxia-2; ; SETX
Ataxia–telangiectasia; ; ATM
Ataxia–telangiectasia-like disorder; ; MRE11A
Atelosteogenesis II; ; SLC26A2
Atelosteogenesis, type III; ; FLNB
Atelostogenesis, type I; ; FLNB
Athabaskan brainstem dysgenesis syndrome; ; HOXA1
Atopy; ; SPINK5
ATP synthase deficiency, nuclear-encoded; ; ATPAF2
Atransferrinemia; ; TF
Atrial fibrillation; ; GJA5
Atrial fibrillation, familial, 3; ; KCNQ1
Atrial fibrillation, familial, 4; ; KCNE2
Atrial fibrillation, familial, 6; ; NPPA
Atrial fibrillation, familial, 7; ; KCNA5
Atrial septal defect 4; ; TBX20
Atrial septal defect 5; ; ACTC1
Atrial septal defect 6; ; TLL1
Atrial septal defect with atrioventricular conduction defects; ; NKX2E
Atrial septal defect-2; ; GATA4
Atrichia with papular lesions; ; HR
Atrioventricular canal defect; ; AVSD1
Atrioventricular septal defect; ; GJA1
Atrioventricular septal defect, partial, with heterotaxy syndrome; ; CRELD1
Auditory neuropathy, autosomal recessive, 1; ; OTOF
Autoimmune disease, syndromic multisystem; ; ITCH
Autoimmune lymphoproliferative syndrome, type IA; ; TNFRSF6
Autoimmune lymphoproliferative syndrome, type II; ; CASP10
Autoimmune lymphoproliferative syndrome, type IIB; ; CASP8
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia; ; AIRE
Axenfeld–Rieger syndrome, type 1; ; PITX2
Axenfeld–Rieger syndrome, type 3; ; FOXC1
Azoospermia due to perturbations of meiosis; ; SYCP3
Azoospermia; ; USP9Y
Baller–Gerold syndrome; ; RECQL4
Bamforth–Lazarus syndrome; ; FOXE1
Bannayan–Riley–Ruvalcaba syndrome; ; PTEN
Bardet–Biedl syndrome 1; ; BBS1
Bardet–Biedl syndrome 10; ; BBS10
Bardet–Biedl syndrome 11; ; TRIM32
Bardet–Biedl syndrome 12; ; BBS12
Bardet–Biedl syndrome 13; ; MKS1
Bardet–Biedl syndrome 14; ; CEP290
Bardet–Biedl syndrome 15; ; C2orf86
Bardet–Biedl syndrome 2; ; BBS2
Bardet–Biedl syndrome 3; ; ARL6
Bardet–Biedl syndrome 4; ; BBS4
Bardet–Biedl syndrome 5; ; BBS5
Bardet–Biedl syndrome 6; ; MKKS
Bardet–Biedl syndrome 7; ; BBS7
Bardet–Biedl syndrome 8; ; TTC8
Bardet–Biedl syndrome 9; ; PTHB1
Bare lymphocyte syndrome, type I; ; TAP1
Bare lymphocyte syndrome, type I; ; TAPBP
Bare lymphocyte syndrome, type I, due to TAP2 deficiency; ; TAP2
Bare lymphocyte syndrome, type II, complementation group A; ; MHC2TA
Bare lymphocyte syndrome, type II, complementation group C; ; RFX5
Bare lymphocyte syndrome, type II, complementation group D; ; RFXAP
Bare lymphocyte syndrome, type II, complementation group E; ; RFX5
Barth syndrome; ; TAZ
Bart–Pumphrey syndrome; ; GJB2
Bartter syndrome, type 1; ; SLC12A1
Bartter syndrome, type 2; ; KCNJ1
Bartter syndrome, type 3; ; CLCNKB
Bartter syndrome, type 4, digenic; ; CLCNKB
Bartter syndrome, type 4a; ; BSND
Bartter syndrome, type 4b, digenic; ; CLCNKA
Basal cell carcinoma, somatic; ; PTCH1
Basal cell carcinoma, somatic; ; PTCH2
Basal cell carcinoma, somatic; ; RASA1
Basal cell nevus syndrome; ; PTCH1
Basal ganglia disease, biotin-responsive; ; SLC19A3
Basal laminar drusen; ; HF1
BCG and salmonella infection, disseminated; ; IL12B
BCG infection, generalized familial; ; IFNGR1
Beare–Stevenson cutis gyrata syndrome; ; FGFR2
Becker muscular dystrophy; ; DMD
Beckwith–Wiedemann syndrome; ; CDKN1C
Beckwith–Wiedemann syndrome; ; H19
Beckwith–Wiedemann syndrome; ; KCNQ10T1
Beckwith–Wiedemann syndrome; ; NSD1
Bernard–Soulier syndrome, benign autosomal dominant; ; GP1BA
Bernard–Soulier syndrome, type A; ; GP1BA
Bernard–Soulier syndrome, type B; ; GP1BB
Bernard–Soulier syndrome, type C; ; GP9
Best macular dystrophy; ; BEST1
Bestrophinopathy; ; BEST1
Beta-ureidopropionase deficiency; ; UPB1
Bethlem myopathy; ; COL6A1
Bethlem myopathy; ; COL6A2
Bethlem myopathy; ; COL6A3
Bietti crystalline corneoretinal dystrophy; ; CYP4V2
Bifid nose with or without anorectal and renal anomalies; ; FREM1
Bile acid malabsorption, primary; ; SLC10A2
Bile acid synthesis defect, congenital, 2; ; AKR1D1
Bile acid synthesis defect, congenital, 4; ; AMACR
Biotinidase deficiency; ; BTD
Birk–Barel mental retardation dysmorphism syndrome; ; KCNK9
Birt–Hogg–Dubé syndrome; ; FLCN
Björnstad syndrome; ; BCS1L
Bladder cancer; ; KRAS
Bladder cancer; ; RB1
Bladder cancer, somatic; ; FGFR3
Blau syndrome; ; NOD2
Bleeding disorder due to P2RY12 defect; ; P2RY12
Blepharophimosis, epicanthus inversus, and ptosis, type 1; ; FOXL2
Blepharophimosis, epicanthus inversus, and ptosis, type 2; ; FOXL2
Blood group--Lutheran inhibitor; ; KLF1
Bloom syndrome; ; RECQL3
Blue cone monochromacy; ; OPN1MW
Blue cone monochromacy; ; OPN1LW
Boomerang dysplasia; ; FLNB
Börjeson–Forssman–Lehmann syndrome; ; PHF6
Bosley–Salih–Alorainy syndrome; ; HOXA1
Bothnia retinal dystrophy; ; RLBP1
Bowen–Conradi syndrome; ; EMG1
Brachiootic syndrome 3; ; SIX1
Brachydactyly type A1; ; BDA1B
Brachydactyly type A1; ; IHH
Brachydactyly type A2; ; BMPR1B
Brachydactyly type A2; ; GDF5
Brachydactyly type B1; ; ROR2
Brachydactyly type B2; ; NOG
Brachydactyly type C; ; GDF5
Brachydactyly type D; ; HOXD13
Brachydactyly type E; ; HOXD13
Brachydactyly type E2; ; PTHLH
Brachydactyly-syndactyly syndrome; ; HOXD13
Brachyolmia type 3; ; TRPV4
Bradyopsia; ; RGS9
Bradyopsia; ; RGS9BP
Brain small vessel disease with Axenfeld-Rieger anomaly; ; COL4A1
Brain small vessel disease with hemorrhage; ; COL4A1
Branchiooculofacial syndrome; ; TFAP2A
Branchiootorenal syndrome 2; ; SIX5
Branchiootorenal syndrome with cataract; ; EYA1
Branchiootorenal syndrome; ; EYA1
Breast cancer; ; PPM1D
Breast cancer; ; SLC22A1L
Breast cancer; ; TP53
Breast cancer, early-onset; ; BRIP1
Breast cancer, invasive ductal; ; RAD54L
Breast cancer, somatic; ; AKT1
Breast cancer, somatic; ; KRAS
Breast cancer, somatic; ; PIK3CA
Breast cancer, somatic; ; RB1CC1
Brittle cornea syndrome; ; ZNF469
Brody myopathy; ; ATP2A1
Bronchiectasis with or without elevated sweat chloride 1; ; SCNN1B
Bronchiectasis with or without elevated sweat chloride 2; ; SCNN1A
Bronchiectasis with or without elevated sweat chloride 3; ; SCNN1G
Brooke–Spiegler syndrome; ; CYLD1
Brown–Vialetto–Van Laere syndrome; ; C20orf54
Bruck syndrome 2; ; PLOD2
Brugada syndrome 1; ; SCN5A
Brugada syndrome 2; ; GPD1L
Brugada syndrome 3; ; CACNA1C
Brugada syndrome 4; ; CACNB2
Brugada syndrome 5; ; SCN1B
Brugada syndrome 6; ; KCNE3
Brugada syndrome 7; ; SCN3B
Brugada syndrome 8; ; HCN4
Brunner syndrome; ; MAOA
Burkitt's lymphoma; ; MYC
Buschke–Ollendorff syndrome; ; LEMD3
C syndrome; ; CD96
C5 deficiency; ; C5
C6 deficiency; ; C6
C7 deficiency; ; C7
Caffey disease; ; COL1A1
Campomelic dysplasia with autosomal sex reversal; ; SOX9
Campomelic dysplasia; ; SOX9
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; ; PRG4
Camurati–Engelmann disease; ; TGFB1
Canavan disease; ; ASPA
Candidiasis, familial chronic mucocutaneous, autosomal dominant; ; CLEC7A
Candidiasis, familial chronic mucocutaneous, autosomal recessive; ; CARD9
Capillary malformation-arteriovenous malformation; ; RASA1
Carbamoyl phosphate synthetase I deficiency; ; CPS1
Carbohydrate-deficient glycoprotein syndrome, type Ib; ; MPI
Carboxypeptidase N deficiency; ; CPN1
Carcinoid tumors, intestinal; ; SDHD
Cardiac arrhythmia, ankyrin-B-related; ; ANK2
Cardiac conduction defect, nonspecific; ; SCN1B
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; ; SCO2
Cardiofaciocutaneous syndrome; ; BRAF
Cardiofaciocutaneous syndrome; ; KRAS
Cardiofaciocutaneous syndrome; ; MAP2K1
Cardiofaciocutaneous syndrome; ; MAP2K2
Cardiomyopathy, dilated 1C; ; LDB3
Cardiomyopathy, dilated; ; MYBPC3
Cardiomyopathy, dilated, 1A; ; LMNA
Cardiomyopathy, dilated, 1AA; ; ACTN2
Cardiomyopathy, dilated, 1BB; ; DSG2
Cardiomyopathy, dilated, 1CC; ; NEXN
Cardiomyopathy, dilated, 1D; ; TNNT2
Cardiomyopathy, dilated, 1DD; ; RBM20
Cardiomyopathy, dilated, 1E; ; SCN5A
Cardiomyopathy, dilated, 1EE; ; MYH6
Cardiomyopathy, dilated, 1FF; ; TNNI3
Cardiomyopathy, dilated, 1G; ; TTN
Cardiomyopathy, dilated, 1GG; ; SDHA
Cardiomyopathy, dilated, 1I; ; DES
Cardiomyopathy, dilated, 1J; ; EYA4
Cardiomyopathy, dilated, 1L; ; SGCD
Cardiomyopathy, dilated, 1M; ; CSRP3
Cardiomyopathy, dilated, 1N; ; TCAP
Cardiomyopathy, dilated, 1O; ; ABCC9
Cardiomyopathy, dilated, 1P; ; PLN
Cardiomyopathy, dilated, 1R; ; ACTC1
Cardiomyopathy, dilated, 1S; ; MYH7
Cardiomyopathy, dilated, 1W; ; VCL
Cardiomyopathy, dilated, 1X; ; FKTN
Cardiomyopathy, dilated, 1Y; ; TPM1
Cardiomyopathy, dilated, 1Z; ; TNNC1
Cardiomyopathy, dilated, 2A; ; TNNI3
Cardiomyopathy, dilated, 3A; ; TAZ
Cardiomyopathy, dilated, 3B; ; DMD
Cardiomyopathy, familial hypertrophic, 1; ; MYH7
Cardiomyopathy, familial hypertrophic, 10; ; MYL2
Cardiomyopathy, familial hypertrophic, 11; ; ACTC1
Cardiomyopathy, familial hypertrophic, 12; ; CSRP3
Cardiomyopathy, familial hypertrophic, 13; ; TNNC1
Cardiomyopathy, familial hypertrophic, 14; ; MYH6
Cardiomyopathy, familial hypertrophic, 15; ; VCL
Cardiomyopathy, familial hypertrophic; ; CAV3
Cardiomyopathy, familial hypertrophic; ; SLC25A4
Cardiomyopathy, familial hypertrophic, 2; ; TNNT2
Cardiomyopathy, familial hypertrophic, 3; ; TPM1
Cardiomyopathy, familial hypertrophic, 4; ; MYBPC3
Cardiomyopathy, familial hypertrophic, 8; ; MYL3
Cardiomyopathy, familial restrictive; ; TNNI3
Cardiomyopathy, familial restrictive, 3; ; TNNT2
Cardiomyopathy, hypertrophic 6, with WPW; ; PRKAG2
Cardiomyopathy, hypertrophic, midventricular, digenic; ; MYLK2
Carney complex variant; ; MYH8
Carney complex, type 1; ; PRKAR1A
Carnitine deficiency, systemic primary; ; SLC22A5
Carotid intimal medial thickness 1; ; PPARG
Carpal tunnel syndrome, familial; ; TTR
Carpenter syndrome; ; RAB23
Cartilage–hair hypoplasia; ; RMRP
Cataract with late-onset corneal dystrophy; ; PAX6
Cataract, autosomal dominant, multiple types 1; ; BFSP2
Cataract, cerulean, type 2; ; CRYBB2
Cataract, congenital nuclear, 2; ; CRYBB3
Cataract, congenital nuclear, autosomal recessive 3; ; CRYBB1
Cataract, congenital zonular, with sutural opacities; ; CRYBA1
Cataract, congenital; ; BFSP2
Cataract, congenital, cerulean type, 3; ; CRYGD
Cataract, congenital, X-linked; ; NHS
Cataract, Coppock-like; ; CRYBB2
Cataract, Coppock-like; ; CRYGC
Cataract, cortical, juvenile-onset; ; BFSP1
Cataract, crystalline aculeiform; ; CRYGD
Cataract, juvenile, with microcornea and glucosuria; ; SLC16A12
Cataract, juvenile-onset; ; BFSP2
Cataract, lamellar 2; ; CRYBA4
Cataract, lamellar; ; HSF4
Cataract, Marner type; ; HSF4
Cataract, nonnuclear polymorphic congenital; ; CRYGD
Cataract, polymorphic and lamellar; ; MIP
Cataract, posterior polar, 1; ; EPHA2
Cataract, posterior polar, 3; ; CHMP4B
Cataract, posterior polar, 4; ; PITX3
Cataract, posterior polar, 4, syndromic; ; PITX3
Cataract, sutural, with punctate and cerulean opacities; ; CRYBB2
Cataract, zonular pulverulent-1; ; GJA8
Cataract, zonular pulverulent-3; ; GJA3
Cataract-microcornea syndrome; ; GJA8
CATSHL syndrome; ; FGFR3
Caudal duplication anomaly; ; AXIN1
Caudal regression syndrome; ; VANGL1
Cavernous malformations of CNS and retina; ; CCM1
CD59 deficiency; ; CD59
CD8 deficiency, familial; ; CD8A
Cenani–Lenz syndactyly syndrome; ; LRP4
Central core disease; ; RYR1
Central hypoventilation syndrome; ; GDNF
Central hypoventilation syndrome, congenital; ; ASCL1
Central hypoventilation syndrome, congenital; ; BDNF
Central hypoventilation syndrome, congenital; ; EDN3
Central hypoventilation syndrome, congenital; ; PMX2B
Central hypoventilation syndrome, congenital; ; RET
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; ; CA8
Cerebellar ataxia; ; CP
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; ; VLDLR
Cerebral amyloid angiopathy; ; CST3
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; ; APP
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; ; NOTCH3
Cerebral cavernous malformations 3; ; PDCD10
Cerebral cavernous malformations-1; ; CCM1
Cerebral cavernous malformations-2; ; C7orf22
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; ; SNAP29
Cerebral palsy, spastic quadriplegic, 3; ; AP4M1
Cerebral palsy, spastic quadriplegic; ; KANK1
Cerebral palsy, spastic, symmetric, autosomal recessive; ; GAD1
Cerebrocostomandibular-like syndrome; ; COG1
Cerebrooculofacioskeletal syndrome 1; ; ERCC6
Cerebrooculofacioskeletal syndrome 2; ; ERCC2
Cerebrooculofacioskeletal syndrome 4; ; ERCC1
Cerebrotendinous xanthomatosis; ; CYP27A1
Ceroid lipofuscinosis, neuronal 8; ; CLN8
Ceroid lipofuscinosis, neuronal, 10; ; CTSD
Ceroid lipofuscinosis, neuronal, 7; ; MFSD8
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; ; CLN8
Ceroid lipofuscinosis, neuronal 1, infantile; ; PPT1
Ceroid-lipofuscinosis, neuronal 2, classic late infantile; ; TPP1
Ceroid lipofuscinosis, neuronal 3, juvenile; ; CLN3
Ceroid-lipofuscinosis, neuronal-5, variant late infantile; ; CLN5
Ceroid-lipofuscinosis, neuronal-6, variant late infantile; ; CLN6
Cervical cancer, somatic; ; FGFR3
Chanarin–Dorfman syndrome; ; ABHD5
Char syndrome; ; TFAP2B
Charcot–Marie–Tooth disease, axonal, type 2F; ; HSPB1
Charcot–Marie–Tooth disease, axonal, type 2K; ; GDAP1
Charcot–Marie–Tooth disease, axonal, type 2L; ; HSPB8
Charcot–Marie–Tooth disease, axonal, type 2M; ; DNM2
Charcot–Marie–Tooth disease, axonal, type 2N; ; AARS
Charcot–Marie–Tooth disease, axonal, with vocal cord paresis; ; GDAP1
Charcot–Marie–Tooth disease, dominant intermediate 3; ; MPZ
Charcot–Marie–Tooth disease, dominant intermediate B; ; DNM2
Charcot–Marie–Tooth disease, dominant intermediate C; ; YARS
Charcot–Marie–Tooth disease, recessive intermediate, A; ; GDAP1
Charcot–Marie–Tooth disease, recessive intermediate, B; ; KARS
Charcot–Marie–Tooth disease type 1A; ; PMP22
Charcot–Marie–Tooth disease type 1B; ; MPZ
Charcot–Marie–Tooth disease type 1C; ; LITAF
Charcot–Marie–Tooth disease type 1D; ; EGR2
Charcot–Marie–Tooth disease type 1E; ; PMP22
Charcot–Marie–Tooth disease type 1F; ; NEFL
Charcot–Marie–Tooth disease type 2A1; ; KIF1B
Charcot–Marie–Tooth disease type 2A2; ; MFN2
Charcot–Marie–Tooth disease type 2B; ; RAB7
Charcot–Marie–Tooth disease type 2B1; ; LMNA
Charcot–Marie–Tooth disease type 2B2; ; MED25
Charcot–Marie–Tooth disease type 2D; ; GARS
Charcot–Marie–Tooth disease type 2E; ; NEFL
Charcot–Marie–Tooth disease type 2I; ; MPZ
Charcot–Marie–Tooth disease type 2J; ; MPZ
Charcot–Marie–Tooth disease type 4A; ; GDAP1
Charcot–Marie–Tooth disease type 4B1; ; MTMR2
Charcot–Marie–Tooth disease type 4B2; ; SBF2
Charcot–Marie–Tooth disease type 4C; ; SH3TC2
Charcot–Marie–Tooth disease type 4D; ; NDRG1
Charcot–Marie–Tooth disease type 4F; ; PRX
Charcot–Marie–Tooth disease type 4H; ; FGD4
Charcot–Marie–Tooth disease type 4J; ; FIG4
Charcot–Marie–Tooth disease, X-linked recessive, 5; ; PRPS1
Charcot–Marie–Tooth neuropathy, X-linked dominant, 1; ; GJB1
CHARGE syndrome; ; CHD7
CHARGE syndrome; ; SEMA3E
Chédiak–Higashi syndrome; ; CHS1
Cherubism; ; SH3BP2
Chilblain lupus; ; TREX1
CHILD syndrome; ; NSDHL
Chloride diarrhea, congenital, Finnish type; ; SLC26A3
Cholestasis, benign recurrent intrahepatic, 2; ; ABCB11
Cholestasis, benign recurrent intrahepatic; ; ATP8B1
Cholestasis, familial intrahepatic, of pregnancy; ; ABCB4
Cholestasis, progressive familial intrahepatic 1; ; ATP8B1
Cholestasis, progressive familial intrahepatic 2; ; ABCB11
Cholestasis, progressive familial intrahepatic 3; ; ABCB4
Cholestasis, progressive familial intrahepatic 4; ; HSD3B7
Cholesteryl ester storage disease; ; LIPA
Chondrocalcinosis 2; ; ANKH
Chondrodysplasia punctata, rhizomelic, type 2; ; GNPAT
Chondrodysplasia punctata, X-linked dominant; ; EBP
Chondrodysplasia punctata, X-linked recessive; ; ARSE
Chondrodysplasia, Blomstrand type; ; PTHR1
Chondrodysplasia, Grebe type; ; GDF5
Chondrosarcoma; ; EXT1
Chondrosarcoma, extraskeletal myxoid; ; TAF15
Chondrosarcoma, extraskeletal myxoid; ; TFG
Chondrosarcoma, extraskeletal myxoid; ; CSMF
Chorea, hereditary benign; ; NKX2-1
Choreoacanthocytosis; ; VPS13A
Choreoathetosis, hypothyroidism, and neonatal respiratory distress; ; NKX2-1
Choriodal dystrophy, central areolar 2,; ; PRPH2
Choroid plexus papilloma; ; TP53
Choroideremia; ; CHM
Chromosome 22q13.3 deletion syndrome; ; SHANK3
Chromosome 5q14.3 deletion syndrome; ; MEF2C
Chrondrodysplasia, acromesomelic, with genital anomalies; ; BMPR1B
Chronic granulomatous disease due to deficiency of NCF-1; ; NCF1
Chronic granulomatous disease due to deficiency of NCF-2; ; NCF2
Chronic granulomatous disease, autosomal, due to deficiency of CYBA; ; CYBA
Chronic granulomatous disease, X-linked; ; CYBB
Chylomicron retention disease; ; SAR1B
Ciliary dyskinesia, primary, 1, with or without situs inversus; ; DNAI1
Ciliary dyskinesia, primary, 10; ; KTU
Ciliary dyskinesia, primary, 11; ; RSPH4A
Ciliary dyskinesia, primary, 12; ; RSPH9
Ciliary dyskinesia, primary, 13; ; LRRC50
Ciliary dyskinesia, primary, 3, with or without situs inversus; ; DNAH5
Ciliary dyskinesia, primary, 6; ; TXNDC3
Ciliary dyskinesia, primary, 7, with or without situs inversus; ; DNAH11
Ciliary dyskinesia, primary, 9, with or without situs inversus; ; DNAI2
CINCA syndrome; ; NLRP3
Cirrhosis, North American Indian childhood type; ; CIRH1A
Citrullinemia; ; ASS1
Citrullinemia, adult-onset type II; ; SLC25A13
Citrullinemia, type II, neonatal-onset; ; SLC25A13
Cleft lip/palate-ectodermal dysplasia syndrome; ; HVEC
Cleft palate and mental retardation; ; SATB2
Cleft palate with ankyloglossia; ; TBX22
Cleft palate, isolated; ; UBB
Cleidocranial dysplasia; ; RUNX2
C-like syndrome; ; CD96
Clopidogrel, impaired responsiveness to; ; CYP2C
Clubfoot, congenital; ; PITX1
COACH syndrome; ; CC2D2A
COACH syndrome; ; RPGRIP1L
COACH syndrome; ; TMEM67
Cockayne syndrome type A; ; ERCC8
Cockayne syndrome type B; ; ERCC6
Cocoon syndrome; ; CHUK
Coenzyme Q10 deficiency; ; APTX
Coenzyme Q10 deficiency; ; CABC1
Coenzyme Q10 deficiency; ; COQ2
Coenzyme Q10 deficiency; ; COQ9
Coenzyme Q10 deficiency; ; PDSS1
Coenzyme Q10 deficiency; ; PDSS2
Coffin–Lowry syndrome; ; RPS6KA3
Cohen syndrome; ; COH1
Cold-induced autoinflammatory syndrome, familial; ; NLRP3
Cold-induced sweating syndrome 1; ; CLCF1
Cold-induced sweating syndrome; ; CRLF1
Coloboma of optic nerve; ; PAX6
Coloboma, ocular; ; PAX6
Coloboma, ocular; ; SHH
Colon cancer, somatic; ; PTPRJ
Colorblindness, deutan; ; OPN1MW
Colorblindness, tritan; ; OPN1SW
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; ; MUTYH
Colorectal cancer; ; AXIN2
Colorectal cancer; ; BUB1B
Colorectal cancer; ; EP300
Colorectal cancer; ; NRAS
Colorectal cancer; ; PDGFRL
Colorectal cancer; ; TP53
Colorectal cancer, hereditary nonpolyposis, type 1; ; MSH2
Colorectal cancer, hereditary nonpolyposis, type 2; ; MLH1
Colorectal cancer, hereditary nonpolyposis, type I; ; EPCAM
Colorectal cancer, somatic; ; FGFR3
Colorectal cancer, somatic; ; AKT1
Colorectal cancer, somatic; ; APC
Colorectal cancer, somatic; ; FLCN
Colorectal cancer, somatic; ; MLH3
Colorectal cancer, somatic; ; PIK3CA
Combined cellular and humoral immune defects with granulomas; ; RAG1
Combined cellular and humoral immune defects with granulomas; ; RAG2
Combined factor V and VIII deficiency; ; LMAN1
Combined hyperlipidemia, familial; ; LPL
Combined immunodeficiency, X-linked, moderate; ; IL2RG
Combined oxidative phosphorylation deficiency 1; ; GFM1
Combined oxidative phosphorylation deficiency 2; ; MRPS16
Combined oxidative phosphorylation deficiency 3; ; TSFM
Combined oxidative phosphorylation deficiency 4; ; TUFM
Combined oxidative phosphorylation deficiency 5; ; MRPS22
Combined oxidative phosphorylation deficiency 6; ; AIFM1
Combined SAP deficiency; ; PSAP
Complement component 4, partial deficiency of; ; C1NH
Complement factor H deficiency; ; HF1
Complement factor I deficiency; ; CFI
Complex I, mitochondrial respiratory chain, deficiency of; ; NDUFS6
Cone dystrophy 4; ; PDE6C
Cone dystrophy-3; ; GUCA1A
Cone–rod dystrophy 10; ; SEMA4A
Cone–rod dystrophy 11; ; RAXL1
Cone–rod dystrophy 12; ; PROM1
Cone–rod dystrophy 13; ; RPGRIP1
Cone–rod dystrophy 14; ; GUCA1A
Cone–rod dystrophy 15; ; CDHR1
Cone–rod dystrophy 3; ; ABCA4
Cone–rod dystrophy 5; ; PITPNM3
Cone–rod dystrophy; ; GUCY2D
Cone–rod dystrophy 7; ; RIMS1
Cone–rod dystrophy 9; ; ADAM9
Cone–rod dystrophy, X-linked, 3; ; CACNA1F
Cone–rod dystrophy-1; ; RPGR
Cone–rod retinal dystrophy-2; ; CRX
Congenital bilateral absence of vas deferens; ; CFTR
Congenital cataracts, facial dysmorphism, and neuropathy; ; CTDP1
Congenital disorder of glycosylation, type Ia; ; PMM2
Congenital disorder of glycosylation, type Ic; ; ALG6
Congenital disorder of glycosylation, type Id; ; ALG3
Congenital disorder of glycosylation, type Ie; ; DPM1
Congenital disorder of glycosylation, type If; ; MPDU1
Congenital disorder of glycosylation, type Ig; ; ALG12
Congenital disorder of glycosylation, type Ih; ; ALG8
Congenital disorder of glycosylation, type Ii; ; ALG2
Congenital disorder of glycosylation, type IIA; ; MGAT2
Congenital disorder of glycosylation, type IIb; ; GCS1
Congenital disorder of glycosylation type IIc; ; SLC35C1
Congenital disorder of glycosylation, type IId; ; B4GALT1
Congenital disorder of glycosylation, type IIe; ; COG7
Congenital disorder of glycosylation, type IIf; ; SLC35A1
Congenital disorder of glycosylation, type IIg; ; COG1
Congenital disorder of glycosylation, type IIh; ; COG8
Congenital disorder of glycosylation, type IIj; ; COG4
Congenital disorder of glycosylation, type Ij; ; DPAGT2
Congenital disorder of glycosylation, type Ik; ; ALG1
Congenital disorder of glycosylation, type Il; ; ALG9
Congenital disorder of glycosylation, type Im; ; TMEM15
Congenital disorder of glycosylation, type In; ; RFT1
Congenital disorder of glycosylation, type Io; ; DPM3
Congenital disorder of glycosylation, type Ip; ; SRD5A3
Congenital heart defects, nonsyndromic, 1, X-linked; ; ZIC3
Congenital heart disease, nonsyndromic, 2; ; TAB2
Conjunctivitis, ligneous; ; PLG
Conotruncal anomaly face syndrome; ; TBX1
Contractural arachnodactyly, congenital; ; FBN2
Convulsions, benign familial infantile, 3; ; SCN2A1
Convulsions, familial febrile, 4; ; GPR98
COPD, rate of decline of lung function in; ; MMP1
Coproporphyria; ; CPOX
Cornea plana congenita, recessive; ; KERA
Corneal dystrophy polymorphous posterior, 2; ; COL8A2
Corneal dystrophy, Avellino type; ; TGFBI
Corneal dystrophy, congenital stromal; ; DCN
Corneal dystrophy, crystalline, of Schnyder; ; UBIAD1
Corneal dystrophy, epithelial basement membrane; ; TGFBI
Corneal dystrophy, Fuchs endothelial, 1; ; COL8A2
Corneal dystrophy, Fuchs endothelial, 4; ; SLC4A11
Corneal dystrophy, Fuchs endothelial, 6; ; ZEB1
Corneal dystrophy, gelatinous drop-like; ; TACSTD2
Corneal dystrophy, Groenouw type I; ; TGFBI
Corneal dystrophy, hereditary polymorphous posterior; ; VSX1
Corneal dystrophy, lattice type I; ; TGFBI
Corneal dystrophy, lattice type IIIA; ; TGFBI
Corneal dystrophy, posterior polymorphous, 3; ; ZEB1
Corneal dystrophy, Reis-Bucklers type; ; TGFBI
Corneal dystrophy, Thiel-Behnke type; ; TGFBI
Corneal endothelial dystrophy 2; ; SLC4A11
Corneal endothelial dystrophy and perceptive deafness; ; SLC4A11
Corneal fleck dystrophy; ; PIKFYVE
Cornelia de Lange syndrome 1; ; NIPBL
Cornelia de Lange syndrome 2; ; DXS423E
Cornelia de Lange syndrome 3; ; CSPG6
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; ; IGBP1
Corpus callosum, partial agenesis of; ; L1CAM
Cortical dysplasia-focal epilepsy syndrome; ; CNTNAP2
Corticosteroid-binding globulin deficiency; ; CBG
Cortisone reductase deficiency; ; H6PD
Cortisone reductase deficiency; ; HSD11B1
Costello syndrome; ; HRAS
Coumarin resistance; ; CYP2A6
Cousin syndrome; ; TBX15
Cowden syndrome; ; PTEN
Cowden-like syndrome; ; SDHB
Cowden-like syndrome; ; SDHD
CPT deficiency, hepatic, type IA; ; CPT1A
CPT deficiency, hepatic, type II; ; CPT2
CPT II deficiency, lethal neonatal; ; CPT2
Cranioectodermal dysplasia; ; IFT122
Craniofacial-deafness-hand syndrome; ; PAX3
Craniofrontonasal dysplasia; ; EFNB1
Cranio-lenticulo-sutural dysplasia; ; SEC23A
Craniometaphyseal dysplasia; ; ANKH
Cranioosteoarthropathy; ; HPGD
Craniosynostosis, type 1; ; TWIST1
Craniosynostosis, type 2; ; MSX2
CRASH syndrome; ; L1CAM
Creatine deficiency syndrome, X-linked; ; SLC6A8
Creatine phosphokinase, elevated serum; ; CAV3
Creutzfeldt–Jakob disease; ; PRNP
Crigler–Najjar syndrome type I; ; UGT1A1
Crigler–Najjar syndrome type II; ; UGT1A1
Crisponi syndrome; ; CRLF1
Crouzon syndrome with acanthosis nigricans; ; FGFR3
Crouzon syndrome; ; FGFR2
Cryptorchidism, bilateral; ; LGR8
Cryptorchidism, idiopathic; ; INSL3
Currarino syndrome; ; MNX1
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; ; LTBP4
Cutis laxa, AD; ; ELN
Cutis laxa, autosomal dominant; ; FBLN5
Cutis laxa, autosomal recessive; ; FBLN5
Cutis laxa, autosomal recessive, type I; ; EFEMP2
Cutis laxa, autosomal recessive, type II; ; ATP6V0A2
Cutis laxa, autosomal recessive, type IIB; ; PYCR1
Cutis laxa, recessive, type I; ; LOX
Cylindromatosis, familial; ; CYLD1
Cystathioninuria; ; CTH
Cystic fibrosis; ; CFTR
Cystinosis, late-onset juvenile or adolescent nephropathic; ; CTNS
Cystinosis, nephropathic; ; CTNS
Cystinosis, ocular nonnephropathic; ; CTNS
Cystinuria; ; SLC3A1
Cystinuria; ; SLC7A9
Cytochrome C oxidase deficiency; ; COX6B1
D-2-hydroxyglutaric aciduria; ; D2HGDH
Dandy–Walker malformation; ; ZIC1
Dandy–Walker malformation; ; ZIC4
Darier disease; ; ATP2A2
Darsun syndrome; ; G6PC3
D-bifunctional protein deficiency; ; HSD17B4
De la Chapelle dysplasia; ; SLC26A2
De Sanctis–Cacchione syndrome; ; ERCC6
Deafness, autosomal dominant 1; ; DIAPH1
Deafness, autosomal dominant 10; ; EYA4
Deafness, autosomal dominant 11, neurosensory; ; MYO7A
Deafness, autosomal dominant 13; ; COL11A2
Deafness, autosomal dominant 15; ; POU4F3
Deafness, autosomal dominant 17; ; MYH9
Deafness, autosomal dominant 20/26; ; ACTG1
Deafness, autosomal dominant 22; ; MYO6
Deafness, autosomal dominant 23; ; SIX1
Deafness, autosomal dominant 25; ; SLC17A8
Deafness, autosomal dominant 28; ; GRHL2
Deafness, autosomal dominant 2A; ; KCNQ4
Deafness, autosomal dominant 2B; ; GJB3
Deafness, autosomal dominant 36; ; TMC1
Deafness, autosomal dominant 36, with dentinogenesis; ; DSPP
Deafness, autosomal dominant 3A; ; GJB2
Deafness, autosomal dominant 3B; ; GJB6
Deafness, autosomal dominant 4; ; MYH14
Deafness, autosomal dominant 44; ; CCDC50
Deafness, autosomal dominant 48; ; MYO1A
Deafness, autosomal dominant 5; ; DFNA5
Deafness, autosomal dominant 50; ; MIR96
Deafness, autosomal dominant 8/12; ; TECTA
Deafness, autosomal dominant 9; ; COCH
Deafness, autosomal recessive 10, congenital; ; TMPRSS3
Deafness, autosomal recessive 12; ; CDH23
Deafness, autosomal recessive 16; ; STRC
Deafness, autosomal recessive 18; ; USH1C
Deafness, autosomal recessive 1A; ; GJB2
Deafness, autosomal recessive 1B; ; GJB6
Deafness, autosomal recessive 2, neurosensory; ; MYO7A
Deafness, autosomal recessive 21; ; TECTA
Deafness, autosomal recessive 22; ; OTOA
Deafness, autosomal recessive 23; ; PCDH15
Deafness, autosomal recessive 25; ; GRXCR1
Deafness, autosomal recessive 28; ; TRIOBP
Deafness, autosomal recessive 3; ; MYO15A
Deafness, autosomal recessive 30; ; MYO3A
Deafness, autosomal recessive 31; ; WHRN
Deafness, autosomal recessive 35; ; ESRRB
Deafness, autosomal recessive 36; ; ESPN
Deafness, autosomal recessive 37; ; MYO6
Deafness, autosomal recessive 39; ; HGF
Deafness, autosomal recessive 49; ; MARVELD2
Deafness, autosomal recessive 53; ; COL11A2
Deafness, autosomal recessive 59; ; PJVK
Deafness, autosomal recessive 6; ; TMIE
Deafness, autosomal recessive 63; ; LRTOMT
Deafness, autosomal recessive 67; ; LHFPL5
Deafness, autosomal recessive 7; ; TMC1
Deafness, autosomal recessive 77; ; LOXHD1
Deafness, autosomal recessive 79; ; TPRN
Deafness, autosomal recessive 8, childhood onset; ; TMPRSS3
Deafness, autosomal recessive 84; ; PTPRQ
Deafness, autosomal recessive 9; ; OTOF
Deafness, autosomal recessive 91; ; SERPINB6
Deafness, autosomal recessive, 24; ; RDX
Deafness, congenital with inner ear agenesis, microtia, and microdontia; ; FGF3
Deafness, digenic GJB2/GJB6; ; GJB6
Deafness, digenic, GJB2/GJB3; ; GJB3
Deafness, sensorineural, with hypertrophic cardiomyopathy; ; MYO6
Deafness, X-linked 1; ; PRPS1
Deafness, X-linked 2; ; POU3F4
Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema; ; PIEZO1
Dejerine–Sottas disease; ; PMP22
Dejerine–Sottas neuropathy; ; EGR2
Dejerine–Sottas neuropathy, autosomal recessive; ; PRX
Dejerine–Sottas syndrome; ; MPZ
Dementia, familial British; ; ITM2B
Dementia, familial Danish; ; ITM2B
Dementia, familial, nonspecific; ; CHMP2B
Dementia, frontotemporal; ; PSEN1
Dementia, frontotemporal, with or without parkinsonism; ; MAPT
Dementia, Lewy body; ; SNCA
Dementia, Lewy body; ; SNCB
Dent's disease 2; ; OCRL
Dent's disease; ; CLCN5
Dentatorubr–pallidoluysian atrophy; ; ATN1
Dentin dysplasia, type II; ; DSPP
Dentinogenesis imperfecta, Shields type II; ; DSPP
Dentinogenesis imperfecta, Shields type III; ; DSPP
Denys–Drash syndrome; ; WT1
Dermatopathia pigmentosa reticularis; ; KRT14
Desbuquois dysplasia; ; CANT1
Desmoid disease, hereditary; ; APC
Desmosterolosis; ; DHCR24
Diabetes insipidus, nephrogenic; ; AQP2
Diabetes insipidus, nephrogenic; ; AVPR2
Diabetes insipidus, neurohypophyseal; ; AVP
Diabetes mellitus, gestational; ; GCK
Diabetes mellitus, insulin-dependent, 2; ; INS
Diabetes mellitus, insulin-dependent, 20; ; HNF1A
Diabetes mellitus, insulin-resistant, with acanthosis nigricans; ; INSR
Diabetes mellitus, ketosis-prone; ; PAX4
Diabetes mellitus, neonatal, with congenital hypothyroidism; ; GLIS3
Diabetes mellitus, noninsulin-dependent; ; ABCC8
Diabetes mellitus, noninsulin-dependent; ; HNF1B
Diabetes mellitus, noninsulin-dependent, late onset; ; GCK
Diabetes mellitus, permanent neonatal; ; ABCC8
Diabetes mellitus, permanent neonatal; ; GCK
Diabetes mellitus, permanent neonatal; ; INS
Diabetes mellitus, permanent neonatal, with cerebellar agenesis; ; PTF1A
Diabetes mellitus, permanent neonatal, with neurologic features; ; KCNJ11
Diabetes mellitus, transient neonatal 2; ; ABCC8
Diabetes mellitus, transient neonatal, 1; ; ZFP57
Diabetes mellitus, transient neonatal, 3; ; KCNJ11
Diabetes mellitus, type 1; ; INS
Diabetes mellitus, type 2; ; PAX4
Diabetes mellitus type II; ; AKT2
Diabetes, permanent neonatal; ; KCNJ11
Diamond–Blackfan anemia 1; ; RPS19
Diamond–Blackfan anemia 10; ; RPS26
Diamond-Blackfan anemia 4; ; RPS17
Diamond–Blackfan anemia 5; ; RPL35A
Diamond–Blackfan anemia 6; ; RPL5
Diamond–Blackfan anemia 7; ; RPL11
Diamond–Blackfan anemia 8; ; RPS7
Diamond–Blackfan anemia 9; ; RPS10
Diamond–Blackfan anemia; ; RPS24
Diaphragmatic hernia 3; ; ZFPM2
Diarrhea 3, secretory sodium, congenital, syndromic; ; SPINT2
Diarrhea 4, malabsorptive, congenital; ; NEUROG3
Diarrhea 5, with tufting enteropathy, congenital; ; EPCAM
Diastrophic dysplasia; ; SLC26A2
Diastrophic dysplasia, broad bone-platyspondylic variant; ; SLC26A2
Dicarboxylic aminoaciduria; ; SLC1A1
DiGeorge syndrome; ; TBX1
Digital clubbing, isolated congenital; ; HPGD
Dihydropyrimidine dehydrogenase deficiency; ; DPYD
Dihydropyrimidinuria; ; DPYS
Dilated cardiomyopathy with woolly hair and keratoderma; ; DSP
Dimethylglycine dehydrogenase deficiency; ; DMGDH
Disordered steroidogenesis, isolated; ; POR
Donnai–Barrow syndrome; ; LRP2
Dopamine beta-hydroxylase deficiency; ; DBH
Dosage-sensitive sex reversal; ; DAX1
Double outlet right ventricle; ; CFC1
Double outlet right ventricle; ; GDF1
Dowling–Degos disease; ; KRT5
Doyne honeycomb degeneration of retina; ; EFEMP1
Dravet syndrome; ; SCN1A
Duane retraction syndrome 2; ; CHN1
Duane-radial ray syndrome; ; SALL4
Dubin–Johnson syndrome; ; ABCC2
Duchenne muscular dystrophy; ; DMD
Dyggve–Melchior–Clausen disease; ; DYM
Dysautonomia, familial; ; IKBKAP
Dyschromatosis symmetrica hereditaria; ; ADAR
Dyserythropoietic anemia with thrombocytopenia; ; GATA1
Dyskeratosis congenita; ; TERT
Dyskeratosis congenita; ; NOLA2
Dyskeratosis congenita, autosomal dominant; ; TERC
Dyskeratosis congenita, autosomal dominant; ; TINF2
Dyskeratosis congenita, autosomal recessive; ; NOLA3
Dyskeratosis congenita-1; ; DKC1
Dyssegmental dysplasia, Silverman-Handmaker type; ; HSPG2
Dystonia 16; ; PRKRA
Dystonia 6, torsion; ; THAP1
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; ; SPR
Dystonia, DOPA-responsive, with or without hyperphenylalainemia; ; GCH1
Dystonia, juvenile-onset; ; ACTB
Dystonia, myoclonic; ; DRD2
Dystonia-1, torsion; ; DYT1
Dystonia-11, myoclonic; ; SGCE
Dystonia-12; ; ATP1A3
Dystonia-parkinsonism, adult-onset; ; PLA2G6
Dystonia-Parkinsonism, X-linked; ; TAF1
EBD inversa; ; COL7A1
EBD, Bart type; ; COL7A1
Ectodermal dysplasia, anhidrotic, autosomal dominant; ; EDARADD
Ectodermal dysplasia, anhidrotic, autosomal recessive; ; EDARADD
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency; ; NFKBIA
Ectodermal dysplasia, anhidrotic, X-linked; ; ED1
Ectodermal dysplasia, ectrodactyly, and macular dystrophy; ; CDH3
Ectodermal dysplasia, hidrotic; ; GJB6
Ectodermal dysplasia, hypohidrotic, autosomal dominant; ; EDAR
Ectodermal dysplasia, hypohidrotic, autosomal recessive; ; EDAR
Ectodermal dysplasia, hypohidrotic, with immune deficiency; ; IKBKG
Ectodermal dysplasia, 'pure' hair-nail type; ; KRT85
Ectodermal dysplasia-skin fragility syndrome; ; PKP1
Ectodermal dysplasia-syndactyly syndrome 1; ; PVRL4
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency; ; IKBKG
Ectopia lentis, familial; ; FBN1
Ectopia lentis, isolated, autosomal recessive; ; ADAMTSL4
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; ; TP63
Ehlers–Danlos due to tenascin X deficiency; ; TNXB
Ehlers–Danlos syndrome, cardiac valvular form; ; COL1A2
Ehlers–Danlos syndrome, hypermobility type; ; TNXB
Ehlers-Danlos syndrome, musculocontractural type; ; CHST14
Ehlers–Danlos syndrome, progeroid form; ; B4GALT7
Ehlers–Danlos syndrome, type I; ; COL1A1
Ehlers–Danlos syndrome, type I; ; COL5A1
Ehlers–Danlos syndrome, type I; ; COL5A2
Ehlers–Danlos syndrome, type II; ; COL5A1
Ehlers–Danlos syndrome, type III; ; COL3A1
Ehlers–Danlos syndrome, type IV; ; COL3A1
Ehlers–Danlos syndrome, type VI; ; PLOD
Ehlers–Danlos syndrome, type VIIA; ; COL1A1
Ehlers–Danlos syndrome, type VIIB; ; COL1A2
Ehlers–Danlos syndrome, type VIIC; ; ADAMTS2
Eiken syndrome; ; PTHR1
Elliptocytosis-1; ; EPB41
Elliptocytosis-2; ; SPTA1
Ellis–van Creveld syndrome; ; EVC
Ellis–van Creveld syndrome; ; LBN
Emery–Dreifuss muscular dystrophy 4; ; SYNE1
Emery–Dreifuss muscular dystrophy 5; ; SYNE2
Emery–Dreifuss muscular dystrophy 6; ; FHL1
Emery–Dreifuss muscular dystrophy; ; EMD
Emery–Dreifuss muscular dystrophy, AD; ; LMNA
Emery–Dreifuss muscular dystrophy, AR; ; LMNA
Emphysema due to AAT deficiency; ; SERPINA1
Emphysema-cirrhosis, due to AAT deficiency; ; SERPINA1
Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency; ; TMEM70
Encephalopathy, familial, with neuroserpin inclusion bodies; ; SERPINI1
Encephalopathy, neonatal severe; ; MECP2
Endocrine-cerebroosteodysplasia; ; ICK
Endometrial cancer; ; MLH3
Endometrial cancer, familial; ; MSH6
Endplate acetylcholinesterase deficiency; ; COLQ
Enhanced S-cone syndrome; ; NR2E3
Enlarged vestibular aqueduct; ; FOXI1
Enlarged vestibular aqueduct; ; SLC26A4
Enterokinase deficiency; ; PRSS7
Eosinophil peroxidase deficiency; ; EPX
Epidermodysplasia verruciformis; ; TMC6
Epidermodysplasia verruciformis; ; TMC8
Epidermolysis bullosa dystrophica, AD; ; COL7A1
Epidermolysis bullosa dystrophica, AR; ; COL7A1
Epidermolysis bullosa of hands and feet; ; ITGB4
Epidermolysis bullosa pruriginosa; ; COL7A1
Epidermolysis bullosa simplex with migratory circinate erythema; ; KRT5
Epidermolysis bullosa simplex with mottled pigmentation; ; KRT5
Epidermolysis bullosa simplex with pyloric atresia; ; PLEC1
Epidermolysis bullosa simplex, Dowling-Meara type; ; KRT14
Epidermolysis bullosa simplex, Dowling-Meara type; ; KRT5
Epidermolysis bullosa simplex, Koebner type; ; KRT14
Epidermolysis bullosa simplex, Koebner type; ; KRT5
Epidermolysis bullosa simplex, Ogna type; ; PLEC1
Epidermolysis bullosa simplex, recessive; ; KRT14
Epidermolysis bullosa simplex, Weber-Cockayne type; ; KRT14
Epidermolysis bullosa simplex, Weber-Cockayne type; ; KRT5
Epidermolysis bullosa, generalized atrophic benign; ; LAMA3
Epidermolysis bullosa, junctional, Herlitz type; ; LAMA3
Epidermolysis bullosa, junctional, Herlitz type; ; LAMB3
Epidermolysis bullosa, junctional, Herlitz type; ; LAMC2
Epidermolysis bullosa, junctional, non-Herlitz type; ; COL17A1
Epidermolysis bullosa, junctional, non-Herlitz type; ; ITGB4
Epidermolysis bullosa, junctional, non-Herlitz type; ; LAMB3
Epidermolysis bullosa, junctional, non-Herlitz type; ; LAMC2
Epidermolysis bullosa, junctional, with pyloric atresia; ; ITGB4
Epidermolysis bullosa, junctional, with pyloric stenosis; ; ITGA6
Epidermolysis bullosa, lethal acantholytic; ; DSP
Epidermolysis bullosa, pretibial; ; COL7A1
Epidermolytic hyperkeratosis; ; KRT1
Epidermolytic hyperkeratosis; ; KRT10
Epidermolytic palmoplantar keratoderma; ; KRT9
Epilepsy, benign neonatal, type 2; ; KCNQ3
Epilepsy, benign, neonatal, type 1; ; KCNQ2
Epilepsy, female-restricted, with mental retardation; ; PCDH19
Epilepsy, generalized, with febrile seizures plus, type 2; ; SCN1A
Epilepsy, generalized, with febrile seizures plus, type 3; ; GABRG2
Epilepsy, juvenile myoclonic, susceptibility to; ; GABRD
Epilepsy, myoclonic, Lafora type; ; EPM2A
Epilepsy, myoclonic, Lafora type; ; NHLRC1
Epilepsy, myoclonic, with mental retardation and spasticity; ; ARX
Epilepsy, neonatal myoclonic, with suppression-burst pattern; ; SLC25A22
Epilepsy, nocturnal frontal lobe, 1; ; CHRNA4
Epilepsy, nocturnal frontal lobe, 3; ; CHRNB2
Epilepsy, nocturnal frontal lobe, type 4; ; CHRNA2
Epilepsy, partial, with auditory features; ; LGI1
Epilepsy, progressive myoclonic 1; ; CSTB
Epilepsy, progressive myoclonic 1B; ; PRICKLE1
Epilepsy, progressive myoclonic 2B; ; NHLRC1
Epilepsy, progressive myoclonic 3; ; KCTD7
Epilepsy, pyridoxine-dependent; ; ALDH7A1
Epilepsy, severe myoclonic, of infancy; ; SCN1A
Epilepsy, X-linked, with variable learning disabilities and behavior disorders; ; SYN1
Epileptic encephalopathy, early infantile, 1; ; ARX
Epileptic encephalopathy, early infantile, 2; ; CDKL5
Epileptic encephalopathy, early infantile, 4; ; STXBP1
Epileptic encephalopathy, early infantile, 5; ; SPTAN1
Epileptic encephalopathy, Lennox-Gastaut type; ; MAPK10
Epiphyseal dysplasia, multiple 1; ; COMP
Epiphyseal dysplasia, multiple, 2; ; COL9A2
Epiphyseal dysplasia, multiple, 3; ; COL9A3
Epiphyseal dysplasia, multiple, 4; ; SLC26A2
Epiphyseal dysplasia, multiple, 5; ; MATN3
Epiphyseal dysplasia, multiple, with myopia and deafness; ; COL2A1
Episodic ataxia, type 2; ; CACNA1A
Episodic ataxia, type 6; ; SLC1A3
Episodic ataxia/myokymia syndrome; ; KCNA1
Epstein syndrome; ; MYH9
Erythermalgia, primary; ; SCN9A
Erythrocyte lactate transporter defect; ; SLC16A1
Erythrocytosis, familial, 3; ; EGLN1
Erythrocytosis, familial, 4; ; EPAS1
Erythrokeratodermia variabilis et progressiva; ; GJB3
Erythrokeratodermia variabilis with erythema gyratum repens; ; GJB4
Escobar syndrome; ; CHRNG
Esophageal cancer; ; DLEC1
Esophageal cancer, somatic; ; TGFBR2
Esophageal carcinoma, somatic; ; RNF6
Esophageal squamous cell carcinoma; ; 40513
Esophageal squamous cell carcinoma; ; LZTS1
Esophageal squamous cell carcinoma; ; WWOX
Ethylmalonic encephalopathy; ; ETHE1
Ewing sarcoma; ; EWSR1
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; ; COX4I2
Exostoses, multiple, type 1; ; EXT1
Exostoses, multiple, type 2; ; EXT2
Exudative vitreoretinopathy 4; ; LRP5
Exudative vitreoretinopathy 5; ; TSPAN12
Exudative vitreoretinopathy; ; FZD4
Exudative vitreoretinopathy, X-linked; ; NDP
Fabry disease; ; GLA
Fabry disease, cardiac variant; ; GLA
Factor V and factor VIII, combined deficiency of; ; MCFD2
Factor V deficiency; ; F5
Factor XI deficiency, autosomal dominant; ; F11
Factor XI deficiency, autosomal recessive; ; F11
Factor XII deficiency; ; F12
Factor XIIIA deficiency; ; F13A1
Factor XIIIB deficiency; ; F13B
Failure of tooth eruption, primary; ; PTHR1
Familial cold autoinflammatory syndrome 2; ; NALP12
Familial Mediterranean fever, AD; ; MEFV
Familial Mediterranean fever, AR; ; MEFV
Fanconi anemia, complementation group 0; ; RAD51C
Fanconi anemia, complementation group A; ; FANCA
Fanconi anemia, complementation group B; ; FAAP95
Fanconi anemia, complementation group D1; ; BRCA2
Fanconi anemia, complementation group I; ; FANCI
Fanconi anemia, complementation group J; ; BRIP1
Fanconi anemia, complementation group N; ; PALB2
Fanconi renotubular syndrome 2; ; SLC34A1
Fanconi–Bickel syndrome; ; SLC2A2
Farber lipogranulomatosis; ; ASAH1
Fatty liver, acute, of pregnancy; ; HADHA
Febrile convulsions, familial, 3A; ; SCN1A
Febrile convulsions, familial, 3B; ; SCN9A
Febrilel, convulsions, familial; ; GABRG2
Fechtner syndrome; ; MYH9
Feingold syndrome; ; MYCN
Fertile eunuch syndrome; ; GNRHR
Fetal akinesia deformation sequence; ; DOK7
Fetal akinesia deformation sequence; ; RAPSN
Fetal hemoglobin quantitative trait locus 1; ; HBG1
Fetal hemoglobin quantitative trait locus 1; ; HBG2
FG syndrome 2; ; FLNA
FG syndrome 4; ; CASK
Fibrodysplasia ossificans progressiva; ; ACVR1
Fibromatosis, gingival; ; SOS1
Fibromatosis, gingival, 2; ; GINGF2
Fibromatosis, juvenile hyaline; ; ANTXR2
Fibrosis of extraocular muscles, congenital, 1; ; KIF21A
Fibrosis of extraocular muscles, congenital, 2; ; PHOX2A
Fibrosis of extraocular muscles, congenital, 3A; ; TUBB3
Fibrosis of extraocular muscles, congenital, 3B; ; KIF21A
Fibular hypoplasia and complex brachydactyly; ; GDF5
Fish-eye disease; ; LCAT
Fletcher factor deficiency; ; KLKB1
Focal cortical dysplasia, Taylor balloon cell type; ; TSC1
Focal dermal hypoplasia; ; PORCN
Folate malabsorption, hereditary; ; SLC46A1
Follicle-stimulating hormone deficiency, isolated; ; FSHB
Foveal hyperplasia; ; PAX6
Foveomacular dystrophy, adult-onset, with choroidal neovascularization; ; PRPH2
Fragile X syndrome; ; FMR1
Fragile X tremor/ataxia syndrome; ; FMR1
Frank–ter Haar syndrome; ; SH3PXD2B
Fraser syndrome; ; FRAS1
Fraser syndrome; ; FREM2
Frasier syndrome; ; WT1
Friedreich's ataxia with retained reflexes; ; FXN
Friedreich's ataxia; ; FXN
Frontometaphyseal dysplasia; ; FLNA
Frontonasal dysplasia 2; ; ALX4
Frontonasal dysplasia 3; ; ALX1
Frontorhiny; ; ALX3
Frontotemporal lobar degeneration with ubiquitin-positive inclusions; ; GRN
Frontotemporal lobar degeneration, TARDBP-related; ; TARDBP
Fructose intolerance; ; ALDOB
Fructose-1,6-bisphosphatase deficiency; ; FBP1
Fucosidosis; ; FUCA1
Fuhrmann syndrome; ; WNT7A
Fumarase deficiency; ; FH
Fundus albipunctatus; ; RDH5
Fundus albipunctatus; ; RLBP1
Fundus flavimaculatus; ; ABCA4
GABA-transaminase deficiency; ; ABAT
Galactokinase deficiency with cataracts; ; GALK1
Galactose epimerase deficiency; ; GALE
Galactosemia; ; GALT
Galactosialidosis; ; CTSA
Gallbladder disease 1; ; ABCB4
Gallbladder disease 4; ; ABCG8
GAMT deficiency; ; GAMT
Gastric cancer, familial diffuse; ; CDH1
Gastric cancer, somatic; ; APC
Gastric cancer, somatic; ; CASP10
Gastric cancer, somatic; ; ERBB2
Gastric cancer, somatic; ; FGFR2
Gastric cancer, somatic; ; IRF1
Gastric cancer, somatic; ; KLF6
Gastric cancer, somatic; ; MUTYH
Gastric cancer, somatic; ; PIK3CA
Gastrointestinal stromal tumor, somatic; ; KIT
Gastrointestinal stromal tumor, somatic; ; PDGFRA
Gaucher disease, atypical; ; PSAP
Gaucher disease, perinatal lethal; ; GBA
Gaucher disease, type; ; GBA
Gaucher disease, type II; ; GBA
Gaucher disease, type III; ; GBA
Gaucher disease, type IIIC; ; GBA
Gaze palsy, horizontal, with progressive scoliosis; ; ROBO3
Geleophysic dysplasia; ; ADAMTSL2
Generalized epilepsy and paroxysmal dyskinesia; ; KCNMA1
Generalized epilepsy with febrile seizures plus; ; SCN1B
Germ cell tumors; ; KIT
Geroderma osteodysplasticum; ; SCYL1BP1
Gerstmann–Sträussler–Scheinker syndrome; ; PRNP
Ghosal syndrome; ; TBXAS1
Giant axonal neuropathy-1; ; GAN
Gillespie syndrome; ; PAX6
Gitelman syndrome; ; SLC12A3
Glanzmann thrombasthenia, type A; ; ITGA2B
Glaucoma 1, open angle, 1O; ; NTF4
Glaucoma 1, open angle, E; ; OPTN
Glaucoma 1, open angle, G; ; WDR36
Glaucoma 1A, primary open angle, juvenile-onset; ; MYOC
Glaucoma 1B, primary open angle, adult onset; ; GLC1B
Glaucoma 3, primary congenital, D; ; LTBP2
Glaucoma 3A, primary congenital; ; CYP1B1
Glaucoma, primary open angle, adult-onset; ; CYP1B1
Glaucoma, primary open angle, juvenile-onset; ; CYP1B1
Glioblastoma, somatic; ; ERBB2
Globozoospermia; ; GOPC
Globozoospermia; ; SPATA16
Glomerulocystic kidney disease with hyperuricemia and isosthenuria; ; UMOD
Glomerulopathy with fibronectin deposits 2; ; FN1
Glomerulosclerosis, focal segmental, 1; ; ACTN4
Glomerulosclerosis, focal segmental, 2; ; TRPC6
Glomerulosclerosis, focal segmental, 3; ; CD2AP
Glomerulosclerosis, focal segmental, 5; ; INF2
Glomuvenous malformations; ; GLML
Glucocorticoid deficiency 2; ; MRAP
Glucocorticoid deficiency, due to ACTH unresponsiveness; ; MC2R
Glucose-galactose malabsorption; ; SLC5A1
GLUT1 deficiency syndrome 1; ; SLC2A1
GLUT1 deficiency syndrome 2; ; SLC2A1
Glutamate formiminotransferase deficiency; ; FTCD
Glutamine deficiency, congenital; ; GLUL
Glutaricaciduria, type I; ; GCDH
Glutaricaciduria, type IIA; ; ETFA
Glutaricaciduria, type IIB; ; ETFB
Glutaricaciduria, type IIC; ; ETFDH
Glutathione synthetase deficiency; ; GSS
Glycerol kinase deficiency; ; GK
Glycine encephalopathy; ; AMT
Glycine encephalopathy; ; GCSH
Glycine encephalopathy; ; GLDC
Glycine N-methyltransferase deficiency; ; GNMT
Glycogen storage disease 0, muscle; ; GYS1
Glycogen storage disease Ib; ; SLC37A4
Glycogen storage disease Ic; ; SLC37A4
Glycogen storage disease Ic; ; SLC17A3
Glycogen storage disease II; ; GAA
Glycogen storage disease IIb; ; LAMP2
Glycogen storage disease IIIa; ; AGL
Glycogen storage disease IIIb; ; AGL
Glycogen storage disease IV; ; GBE1
Glycogen storage disease IXc; ; PHKG2
Glycogen storage disease of heart, lethal congenital; ; PRKAG2
Glycogen storage disease VII; ; PFKM
Glycogen storage disease X; ; PGAM2
Glycogen storage disease XI; ; LDHA
Glycogen storage disease XII; ; ALDOA
Glycogen storage disease XIII; ; ENO3
Glycogen storage disease XIV; ; PGM1
Glycogen storage disease XV; ; GYG1
Glycogen storage disease type 0; ; GYS2
Glycogen storage disease, type IXa1; ; PHKA2
Glycogen storage disease, type IXa2; ; PHKA2
Glycosylphosphatidylinositol deficiency; ; PIGM
GM1-gangliosidosis, type I; ; GLB1
GM1-gangliosidosis, type II; ; GLB1
GM1-gangliosidosis, type III; ; GLB1
GM2-gangliosidosis, AB variant; ; GM2A
GM2-gangliosidosis, several forms; ; HEXA
Gnathodiaphyseal dysplasia; ; ANO5
Goldberg–Shpritzen megacolon syndrome; ; KIAA1279
Gout, PRPS-related; ; PRPS1
GRACILE syndrome; ; BCS1L
Greenberg dysplasia; ; LBR
Greig cephalopolysyndactyly syndrome; ; GLI3
Griscelli syndrome type 1; ; MYO5A
Griscelli syndrome type 2; ; RAB27A
Griscelli syndrome type 3; ; MLPH
Growth hormone deficiency with pituitary anomalies; ; HESX1
Growth hormone deficiency, isolated, type IA; ; GH1
Growth hormone deficiency, isolated, type IB; ; GH1
Growth hormone deficiency, isolated, type IB; ; GHRHR
Growth hormone deficiency, isolated, type II; ; GH1
Growth hormone insensitivity with immunodeficiency; ; STAT5B
Growth retardation with deafness and mental retardation due to IGF1 deficiency; ; IGF1
Growth retardation, developmental delay, coarse facies, and early death; ; FTO
Guttmacher syndrome; ; HOXA13
Gyrate atrophy of choroid and retina with or without ornithinemia; ; OAT
Haddad syndrome; ; ASCL1
Hailey–Hailey disease; ; ATP2C1
Haim–Munk syndrome; ; CTSC
Hallermann–Streiff syndrome; ; GJA1
Hand-foot-uterus Syndrome; ; HOXA13
Harderoporphyria; ; CPOX
HARP syndrome; ; PANK2
Hartnup disorder; ; SLC6A19
Hawkinsinuria; ; HPD
Hay–Wells syndrome; ; TP63
HDL deficiency, type 2; ; ABCA1
Hearing loss, low-frequency sensorineural; ; WFS1
Heart block, nonprogressive; ; SCN5A
Heart block, progressive, type IA; ; SCN5A
Heinz body anemia; ; HBA2
Heinz body anemias, alpha-; ; HBA1
Heinz body anemias, beta-; ; HBB
HELLP syndrome, maternal, of pregnancy; ; HADHA
Hemangioma, capillary infantile, somatic; ; FLT4
Hemangioma, capillary infantile, somatic; ; KDR
Hematopoiesis, cyclic; ; ELANE
Hematuria, benign familial; ; COL4A3
Hemiplegic migraine, familial; ; CACNA1A
Hemochromatosis, type 2A; ; HJV
Hemochromatosis, type 2B; ; HAMP
Hemochromatosis, type 3; ; TFR2
Hemochromatosis, type 4; ; SLC40A1
Hemolytic anemia due to adenylate kinase deficiency; ; AK1
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; ; GCLC
Hemolytic anemia due to glutathione synthetase deficiency; ; GSS
Hemolytic anemia due to hexokinase deficiency; ; HK1
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; ; GPI
Hemolytic uremic syndrome, atypical, susceptibility to, 1; ; HF1
Hemophagocytic lymphohistiocytosis, familial, 2; ; PRF1
Hemophagocytic lymphohistiocytosis, familial, 3; ; UNC13D
Hemophagocytic lymphohistiocytosis, familial, 4; ; STX11
Hemophilia B; ; F9
Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh; ; SERPINA1
Hemosiderosis, systemic, due to aceruloplasminemia; ; CP
Hennekam lymphangiectasia-lymphedema syndrome; ; CCBE1
Hepatic adenoma; ; HNF1A
Hepatic venoocclusive disease with immunodeficiency; ; SP110
Hepatocellular cancer; ; PDGFRL
Hepatocellular carcinoma; ; CTNNB1
Hepatocellular carcinoma; ; TP53
Hepatocellular carcinoma, childhood type; ; MET
Hepatocellular carcinoma, somatic; ; AXIN1
Hepatocellular carcinoma, somatic; ; CASP8
Hepatocellular carcinoma, somatic; ; PIK3CA
Hereditary hemorrhagic telangiectasia-1; ; ENG
Hereditary hemorrhagic telangiectasia-2; ; ACVRL1
Hereditary motor and sensory neuropathy VI; ; MFN2
Hereditary motor and sensory neuropathy, type IIc; ; TRPV4
Hermansky–Pudlak syndrome 1; ; HPS1
Hermansky–Pudlak syndrome 2; ; AP3B1
Hermansky–Pudlak syndrome 3; ; HPS3
Hermansky–Pudlak syndrome 4; ; HPS4
Hermansky–Pudlak syndrome 5; ; HPS5
Hermansky–Pudlak syndrome 6; ; HPS6
Hermansky–Pudlak syndrome 7; ; DTNBP1
Hermansky–Pudlak syndrome 8; ; BLOC1S3
Heterotaxy, visceral, 1, S-linke; ; ZIC3
Heterotaxy, visceral, 2, autosomal; ; CFC1
Heterotaxy, visceral, 5; ; NODAL
Heterotopia, periventricular; ; FLNA
Heterotopia, periventricular, ED variant; ; FLNA
Hirschsprung's disease; ; GDNF
Hirschsprung's disease; ; RET
Hirschsprung disease, short-segment; ; PMX2B
Histiocytoma, angiomatoid fibrous, somatic; ; CREB1
HMG-CoA synthase-2 deficiency; ; HMGCS2
Hodgkin's lymphoma; ; KLHDC8B
Holocarboxylase synthetase deficiency; ; HLCS
Holoprosencephaly-2; ; SIX3
Holoprosencephaly-3; ; SHH
Holoprosencephaly-4; ; TGIF
Holoprosencephaly-5; ; ZIC2
Holoprosencephaly-7; ; PTCH1
Holoprosencephaly-9; ; GLI2
Holt-Oram syndrome; ; TBX5
Homocystinuria due to MTHFR deficiency; ; MTHFR
Homocystinuria, B6-responsive and nonresponsive types; ; CBS
Homocystinuria, cblD type, variant 1; ; C2orf25
Homocystinuria-megaloblastic anemia, cbl E type; ; MTRR
Hoyeraal-Hreidarsson syndrome; ; DKC1
HPRT-related gout; ; HPRT1
Huntington's disease; ; HTT
Huntington disease-like 1; ; PRNP
Huntington disease-like 2; ; JPH3
Hutchinson–Gilford progeria syndrome; ; LMNA
Hyalinosis, infantile systemic; ; ANTXR2
Hydatidiform mole; ; NALP7
Hydranencephaly with abnormal genitalia; ; ARX
Hydrocephalus due to aqueductal stenosis; ; L1CAM
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction; ; L1CAM
Hydrocephalus with Hirschsprung disease and cleft palate; ; L1CAM
Hydrolethalus syndrome; ; HYLS1
Hyperalphalipoproteinemia; ; CETP
Hyperbilirubinemia, familial transcient neonatal; ; UGT1A1
Hypercarotenemia and vitamin A deficiency, autosomal dominant; ; BCMO1
Hypercholanemia, familial; ; BAAT
Hypercholanemia, familial; ; EPHX1
Hypercholanemia, familial; ; TJP2
Hypercholesterolemia, due to ligand-defective apo B; ; APOB
Hypercholesterolemia, familial; ; LDLR
Hypercholesterolemia, familial, 3; ; PCSK9
Hypercholesterolemia, familial, autosomal recessive; ; LDLRAP1
Hypercholesterolemia, familial, modification of; ; APOA2
Hyperchylomicronemia, late-onset; ; APOA5
Hyperekplexia and epilepsy; ; ARHGEF9
Hyperekplexia; ; GPHN
Hyperekplexia; ; SLC6A5
Hyperekplexia, autosomal recessive; ; GLRB
Hypereosinophilic syndrome, idiopathic, resistant to imatinib; ; PDGFRA
Hyperferritinemia-cataract syndrome; ; FTL
Hyperfibrinolysis, familial, due to increased release of PLAT; ; PLAT
Hyperglycinuria; ; SLC36A2
Hyperglycinuria; ; SLC6A19
Hyperglycinuria; ; SLC6A20
Hyper-IgD syndrome; ; MVK
Hyper-IgE recurrent infection syndrome; ; STAT3
Hyper-IgE recurrent infection syndrome, autosomal recessive; ; DOCK8
Hyperinsulinemic hypoglycemia, familial, 1; ; ABCC8
Hyperinsulinemic hypoglycemia, familial, 2; ; KCNJ11
Hyperinsulinemic hypoglycemia, familial, 3; ; GCK
Hyperinsulinemic hypoglycemia, familial, 4; ; HADHSC
Hyperinsulinemic hypoglycemia, familial, 5; ; INSR
Hyperinsulinemic hypoglycemia, familial, 7; ; SLC16A1
Hyperinsulinism-hyperammonemia syndrome; ; GLUD1
Hyperkalemic periodic paralysis, type 2; ; SCN4A
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations; ; CCM1
Hyperlipoproteinemia, type Ib; ; APOC2
Hyperlysinemia; ; AASS
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; ; MAT1A
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; ; SLC25A15
Hyperostosis, endosteal; ; LRP5
Hyperoxaluria, primary, type 1; ; AGXT
Hyperoxaluria, primary, type II; ; GRHPR
Hyperoxaluria, primary, type III; ; DHDPSL
Hyperparathyroidism, AD; ; MEN1
Hyperparathyroidism, familial primary; ; HRPT2
Hyperparathyroidism, neonatal; ; CASR
Hyperparathyroidism-jaw tumor syndrome; ; HRPT2
Hyperpehnylalaninemia, BH4-deficient, B; ; GCH1
Hyperphenylalaninemia, BH4-deficient, A; ; PTS
Hyperphenylalaninemia, BH4-deficient, C; ; QDPR
Hyperphenylalaninemia, BH4-deficient, D; ; PCBD
Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism; ; SLC29A3
Hyperpigmentation, familial progressive; ; KITLG
Hyperprolinemia, type I; ; PRODH
Hyperprolinemia, type II; ; ALDH4A1
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy; ; NR3C2
Hypertension, essential; ; PNMT
Hypertension, essential; ; AGTR1
Hypertension, essential; ; PTGIS
Hyperthyroidism, familial gestational; ; TSHR
Hyperthyroidism, nonautoimmune; ; TSHR
Hypertrophic osteoarthropathy, primary, autosomal recessive; ; HPGD
Hyperuricemic nephropathy, familial juvenile 1; ; UMOD
Hyperuricemic nephropathy, familial juvenile 2; ; REN
Hypoaldosteronism, congenital, due to CMO I deficiency; ; CYP11B2
Hypoaldosteronism, congenital, due to CMO II deficiency; ; CYP11B2
Hypoalphalipoproteinemia; ; APOA1
Hypocalcemia, autosomal dominant; ; CASR
Hypocalciuric hypercalcemia, type I; ; CASR
Hypochondroplasia; ; FGFR3
Hypoglycemia of infancy, leucine-sensitive; ; ABCC8
Hypogonadism, hypogonadotropic; ; PROK2
Hypogonadotropic hypogonadism due to GNRH deficiency; ; GNRH1
Hypogonadotropic hypogonadism; ; CHD7
Hypogonadotropic hypogonadism; ; FGFR1
Hypogonadotropic hypogonadism; ; KISS1R
Hypogonadotropic hypogonadism; ; NELF
Hypogonadotropic hypogonadism; ; TAC3
Hypogonadotropic hypogonadism; ; TACR3
Hypokalemic periodic paralysis type 1; ; CACNA1S
Hypomagnesemia 4, renal; ; EGF
Hypomagnesemia with secondary hypocalcemia; ; TRPM6
Hypomagnesemia, primary; ; CLDN16
Hypomagnesemia, renal, with ocular involvement; ; CLDN19
Hypomagnesemia-2, renal; ; FXYD2
Hypomyelination, global cerebral; ; SLC25A12
Hypoparathyroidism, autosomal dominant; ; PTH
Hypoparathyroidism, autosomal recessive; ; PTH
Hypoparathyroidism, familial isolated; ; GCMB
Hypoparathyroidism, sensorineural deafness, and renal dysplasia; ; GATA3
Hypoparathyroidism-retardation-dysmorphism syndrome; ; TBCE
Hypophosphatasia, adult; ; ALPL
Hypophosphatasia, childhood; ; ALPL
Hypophosphatasia, infantile; ; ALPL
Hypophosphatemia, X-linked; ; PHEX
Hypophosphatemic rickets with hypercalciuria; ; SLC34A3
Hypophosphatemic rickets; ; CLCN5
Hypophosphatemic rickets, AR; ; DMP1
Hypophosphatemic rickets, autosomal dominant; ; FGF23
Hypophosphatemic rickets, autosomal recessive, 2; ; ENPP1
Hypoplastic left heart syndrome; ; GJA1
Hypoproteinemia, hypercatabolic; ; B2M
Hypospadias 1, X-linked; ; AR
Hypospadias 2, X-linked; ; MAMLD1
Hypothryoidism, congenital, nongoitrous 4; ; TSHB
Hypothyroidism, congenital nongoitrous, 5; ; NKX2E
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia; ; PAX8
Hypothyroidism, congenital, nongoitrous; ; TSHR
Hypotrichosis and recurrent skin vesicles; ; DSC3
Hypotrichosis simplex of scalp; ; CDSN
Hypotrichosis, congenital, with juvenile macular dystrophy; ; CDH3
Hypotrichosis, hereditary, Marie Unna type, 1; ; HR
Hypotrichosis, localized, autosomal recessive 2; ; LIPH
Hypotrichosis, localized, autosomal recessive, 3; ; P2RY5
Hypotrichosis, localized, autosomal recessive; ; DSG4
Hypotrichosis-lymphedema-telangiectasia syndrome; ; SOX18
Hypouricemia, renal, 2; ; SLC2A9
Hypouricemia, renal; ; SLC22A12
Hystrix-like ichthyosis with deafness; ; GJB2
Ichthyosiform erythroderma, congenital; ; TGM1
Ichthyosiform erythroderma, congenital, nonbullous, 1; ; ALOX12B
Ichthyosiform erythroderma, congenital, nonbullous, 1; ; ALOXE3
Ichthyosis bullosa of Siemens; ; KRT2
Ichthyosis follicularis, atrichia, and photophobia syndrome; ; MBTPS2
Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic; ; KRT1
Ichthyosis prematurity syndrome; ; SLC27A4
Ichthyosis vulgaris; ; FLG
Ichthyosis with confetti; ; KRT10
Ichthyosis with hypotrichosis; ; ST14
Ichthyosis, congenital, autosomal recessive; ; ICHYN
Ichthyosis, cyclic, with epidermolytic hyperkeratosis; ; KRT1
Ichthyosis, cyclic, with epidermolytic hyperkeratosis; ; KRT10
Ichthyosis, harlequin; ; ABCA12
Ichthyosis, lamellar 2; ; ABCA12
Ichthyosis, lamellar, 3; ; CYP4F22
Ichthyosis, lamellar, autosomal recessive; ; TGM1
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; ; CLDN1
Ichthyosis, x-linked; ; STS
Iminoglycinuria, digenic; ; SLC36A2
Iminoglycinuria, digenic; ; SLC6A19
Iminoglycinuria, digenic; ; SLC6A20
Immune dysfunction with T-cell inactivation due to calcium entry defect 1; ; ORAI1
Immune dysfunction, with T-cell inactivation due to calcium entry defect 2; ; STIM1
Immunodeficiency due to defect in CD3-zeta; ; CD247
Immunodeficiency due to defect in MAPBP-interacting protein; ; MAPBPIP
Immunodeficiency due to purine nucleoside phosphorylase deficiency; ; PNP
Immunodeficiency with hyper IgM, type 4; ; UNG
Immunodeficiency with hyper-IgM, type 2; ; AICDA
Immunodeficiency with hyper-IgM, type 3; ; TNFRSF5
Immunodeficiency, common variable, 1; ; ICOS
Immunodeficiency, common variable, 2; ; TNFRSF13B
Immunodeficiency, common variable, 3; ; CD19
Immunodeficiency, common variable, 4; ; TNFRSF13C
Immunodeficiency, common variable, 5; ; MS4A1
Immunodeficiency, common variable, 6; ; CD81
Immunodeficiency, hypogammaglobulinemia, and reduced B cells; ; CD79B
Immunodeficiency, isolated; ; IKBKG
Immunodeficiency, X-linked, with hyper-IgM; ; TNFSF5
Immunodeficiency–centromeric instability–facial anomalies syndrome; ; DNMT3B
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; ; FOXP3
Immunoglobulin A deficiency 2; ; TNFRSF13B
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; ; VCP
Inclusion body myopathy, autosomal recessive; ; GNE
Inclusion body myopathy-3; ; MYH2
Incontinentia pigmenti, type II; ; IKBKG
Infantile neuroaxonal dystrophy 1; ; PLA2G6
Inflammatory bowel disease 25; ; CRFB4
Insensitivity to pain, channelopathy-associated; ; SCN9A
Insensitivity to pain, congenital, with anhidrosis; ; NTRK1
Insomnia, fatal familial; ; PRNP
Insulin resistance, severe, digenic; ; PPARG
Insulin resistance, severe, digenic; ; PPP1R3A
Insulin-like growth factor I, resistance to; ; IGF1R
Interleukin 1 receptor antagonist deficiency; ; IL1RN
Interleukin-2 receptor, alpha chain, deficiency of; ; IL2RA
Intestinal pseudoobstruction, neuronal; ; FLNA
Intrinsic factor deficiency; ; GIF
Invasive pneumococcal disease, recurrent isolated, 1; ; IRAK4
IRAK4 deficiency; ; IRAK4
Iridogoniodysgenesis, type 1; ; FOXC1
Iridogoniodysgenesis, type 2; ; PITX2
Iris hypoplasia and glaucoma; ; FOXC1
Iron-refractory iron deficiency anemia; ; TMPRSS6
Isobutyryl-coenzyme A dehydrogenase deficiency; ; ACAD8
Isovaleric acidemia; ; IVD
IVIC syndrome; ; SALL4
Jackson–Weiss syndrome; ; FGFR1
Jackson–Weiss syndrome; ; FGFR2
Jalili syndrome; ; CNNM4
Jensen syndrome; ; TIMM8A
Jervell and Lange-Nielsen syndrome 2; ; KCNE1
Jervell and Lange-Nielsen syndrome; ; KCNQ1
Johanson–Blizzard syndrome; ; UBR1
Joubert syndrome 1; ; INPP5E
Joubert syndrome 10; ; OFD1
Joubert syndrome 2; ; TMEM216
Joubert syndrome 4; ; NPHP1
Joubert syndrome 5; ; CEP290
Joubert syndrome 6; ; TMEM67
Joubert syndrome 7; ; RPGRIP1L
Joubert syndrome 8; ; ARL13B
Joubert syndrome 9; ; CC2D2A
Joubert syndrome-3; ; AHI1
Juvenile polyposis syndrome, infantile form; ; BMPR1A
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; ; MADH4
Kallmann syndrome 2; ; FGFR1
Kallmann syndrome 3; ; PROKR2
Kallmann syndrome 4; ; PROK2
Kallmann syndrome 5; ; CHD7
Kallmann syndrome 6; ; FGF8
Kanzaki disease; ; NAGA
Karak syndrome; ; PLA2G6
Kenny–Caffey syndrome-1; ; TBCE
Keratitis; ; PAX6
Keratitis–ichthyosis–deafness syndrome; ; GJB2
Keratoconus; ; VSX1
Keratoderma, palmoplantar, with deafness; ; GJB2
Keratosis follicularis spinulosa decalvans; ; SAT1
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; ; POMP
Keratosis palmoplantaris striata I; ; DSG1
Keratosis palmoplantaris striata II; ; DSP
Keratosis palmoplantaris striata III; ; KRT1
Keratosis, seborrheic, somatic; ; PIK3CA
Keutel syndrome; ; MGP
Kindler syndrome; ; KIND1
Kleefstra syndrome; ; EHMT1
Klippel–Feil syndrome, autosomal dominant; ; GDF6
Kniest dysplasia; ; COL2A1
Knobloch syndrome, type 1; ; COL18A1
Kowarski syndrome; ; GH1
Krabbe disease; ; GALC
Krabbe disease, atypical; ; PSAP
L-2-hydroxyglutaric aciduria; ; L2HGDH
Lactase deficiency, congenital; ; LCT
Lactase persistence/nonpersistence; ; MCM6
Lactic acidosis, fatal infantile; ; SUCLG1
Lacticacidemia due to PDX1 deficiency; ; PDX1
LADD syndrome; ; FGF10
LADD syndrome; ; FGFR3
Laing distal myopathy; ; MYH7
Langer mesomelic dysplasia; ; SHOX
Langer mesomelic dysplasia; ; SHOXY
Laron dwarfism; ; GHR
Larsen syndrome; ; FLNB
Laryngoonychocutaneous syndrome; ; LAMA3
Lathosterolosis; ; SC5DL
LCHAD deficiency; ; HADHA
Leber congenital amaurosis 1; ; GUCY2D
Leber congenital amaurosis 10; ; CEP290
Leber congenital amaurosis 12; ; RD3
Leber congenital amaurosis 13; ; RDH12
Leber congenital amaurosis 14; ; LRAT
Leber congenital amaurosis 2; ; RPE65
Leber congenital amaurosis 3; ; SPATA7
Leber congenital amaurosis 4; ; AIPL1
Leber congenital amaurosis 5; ; LCA5
Left ventricular noncompaction 1, with or without congenital heart defects; ; DTNA
Left ventricular noncompaction 3, with or without dilated cardiomyopathy; ; LDB3
Left ventricular noncompaction 4; ; ACTC1
Left ventricular noncompaction 5; ; MYH7
Left ventricular noncompaction 6; ; TNNT2
Left ventricular noncompaction, X-linked; ; TAZ
Legius syndrome; ; SPRED1
Leigh syndrome due to cytochrome c oxidase deficiency; ; COX15
Leigh syndrome due to mitochondrial complex I deficiency; ; C8orf38
Leigh syndrome due to mitochondrial complex I deficiency; ; NDUFA2
Leigh syndrome; ; BCS1L
Leigh syndrome; ; DLD
Leigh syndrome; ; NDUFS3
Leigh syndrome; ; NDUFS4
Leigh syndrome; ; NDUFS7
Leigh syndrome; ; NDUFS8
Leigh syndrome; ; NDUFV1
Leigh syndrome; ; SDHA
Leigh syndrome, due to COX deficiency; ; SURF1
Leigh syndrome, French-Canadian type; ; LRPPRC
Leigh syndrome, X-linked; ; PDHA1
Leiomyomatosis and renal cell cancer; ; FH
Leiomyomatosis, diffuse, with Alport syndrome; ; COL4A6
LEOPARD syndrome 2; ; RAF1
Leopard syndrome; ; PTPN11
Leprechaunism; ; INSR
Léri–Weill dyschondrosteosis; ; SHOX
Leri-Weill dyschondrosteosis; ; SHOXY
Lesch–Nyhan syndrome; ; HPRT1
Lethal congenital contractural syndrome 2; ; ERBB3
Lethal congenital contractural syndrome 3; ; PIP5K1C
Lethal congenital contracture syndrome 1; ; GLE1
Leukemia, acute lymphocytic; ; BCR
Leukemia, acute myelogenous; ; AMLCR2
Leukemia, acute myelogenous; ; GMPS
Leukemia, acute myelogenous; ; JAK2
Leukemia, acute myeloid; ; MLF1
Leukemia, acute myeloid; ; NSD1
Leukemia, acute myeloid; ; SH3GL1
Leukemia, acute myeloid; ; AF10
Leukemia, acute myeloid; ; ARHGEF12
Leukemia, acute myeloid; ; CEBPA
Leukemia, acute myeloid; ; FLT3
Leukemia, acute myeloid; ; KIT
Leukemia, acute myeloid; ; LPP
Leukemia, acute myeloid; ; NPM1
Leukemia, acute myeloid; ; NUP214
Leukemia, acute myeloid; ; PICALM
Leukemia, acute myeloid; ; RUNX1
Leukemia, acute myeloid; ; WHSC1L1
Leukemia, acute myeloid, somatic; ; ETV6
Leukemia, acute promyelocytic; ; RARA
Leukemia, chronic myeloid; ; BCR
Leukemia, juvenile myelomonocytic; ; ARHGAP26
Leukemia, juvenile myelomonocytic; ; NF1
Leukemia, juvenile myelomonocytic; ; PTPN11
Leukemia, megakaryoblastic, of Down syndrome; ; GATA1
Leukemia, megakaryoblastic, with or without Down syndrome; ; GATA1
Leukocyte adhesion deficiency; ; ITGB2
Leukocyte adhesion deficiency, type III; ; KIND3
Leukodystrophy, adult-onset, autosomal dominant; ; LMNB1
Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia; ; FA2H
Leukodystrophy, hypomyelinating, 2; ; GJC2
Leukodystrophy, hypomyelinating, 4; ; HSPD1
Leukodystrophy, hypomyelinating, 5; ; FAM126A
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; ; DARS2
Leukoencephalopathy with vanishing white matter; ; EIF2B1
Leukoencephalopathy with vanishing white matter; ; EIF2B2
Leukoencephalopathy with vanishing white matter; ; EIF2B3
Leukoencephalopathy with vanishing white matter; ; EIF2B5
Leukoencephalopathy, cystic, without megalencephaly; ; RNASET2
Leukoencephaly with vanishing white matter; ; EIF2B4
Leydig cell adenoma, somatic, with precocious puberty; ; LHCGR
Leydig cell hypoplasia with hypergonadotropic hypogonadism; ; LHCGR
Leydig cell hypoplasia with pseudohermaphroditism; ; LHCGR
Lhermitte–Duclos syndrome; ; PTEN
Liddle syndrome; ; SCNN1B
Liddle syndrome; ; SCNN1G
Li–Fraumeni syndrome; ; CDKN2A
Li–Fraumeni syndrome; ; TP53
Li–Fraumeni syndrome; ; CHEK2
Li–Fraumeni-like syndrome; ; TP53
LIG4 syndrome; ; LIG4
Limb-mammary syndrome; ; TP63
Lipase deficiency, combined; ; LMF1
Lipodystrophy, congenital generalized, type 1; ; AGPAT2
Lipodystrophy, congenital generalized, type 2; ; BSCL2
Lipodystrophy, congenital generalized, type 3; ; CAV1
Lipodystrophy, congenital generalized, type 4; ; PTRF
Lipodystrophy, familial partial; ; LMNA
Lipodystrophy, familial partial, type 3; ; PPARG
Lipodystrophy, partial, acquired; ; LMNB2
Lipoid adrenal hyperplasia; ; STAR
Lipoid congenital adrenal hyperplasia; ; CYP11A
Lipoid proteinosis; ; ECM1
Lipoprotein glomerulopathy; ; APOE
Lipoprotein lipase deficiency; ; LPL
Lissencephaly 3; ; TUBA1A
Lissencephaly syndrome, Norman-Roberts type; ; RELN
Lissencephaly, X-linked 2; ; ARX
Lissencephaly, X-linked; ; DCX
Lissencephaly-1; ; PAFAH1B1
Liver failure, acute infantile; ; TRMU
Loeys–Dietz syndrome, type 1A; ; TGFBR1
Loeys–Dietz syndrome, type 1B; ; TGFBR2
Loeys–Dietz syndrome, type 2A; ; TGFBR1
Loeys–Dietz syndrome, type 2B; ; TGFBR2
Long QT syndrome 12; ; SNT1
Long QT syndrome 13; ; KCNJ5
Long QT syndrome-1; ; KCNQ1
Long QT syndrome-10; ; SCN4B
Long QT syndrome-11; ; AKAP9
Long QT syndrome-3; ; SCN5A
Long QT syndrome-4; ; ANK2
Long QT syndrome-7; ; KCNJ2
Long QT syndrome-9; ; CAV3
Lowe syndrome; ; OCRL
Lujan–Fryns syndrome; ; MED12
Lung cancer; ; DLEC1
Lung cancer; ; RASSF1
Lung cancer; ; KRAS
Lung cancer; ; PPP2R1B
Lung cancer; ; SLC22A1L
Lung cancer, somatic; ; MAP3K8
Luteinizing hormone resistance, female; ; LHCGR
Lymphangioleiomyomatosis; ; TSC1
Lymphangioleiomyomatosis, somatic; ; TSC2
Lymphedema, hereditary I; ; FLT4
Lymphedema, hereditary, IC; ; GJC2
Lymphedema–distichiasis syndrome with renal disease and diabetes mellitus; ; FOXC2
Lymphedema–distichiasis syndrome; ; FOXC2
Lymphoma, non-Hodgkin; ; PRF1
Lymphoma, non-Hodgkin, somatic; ; RAD54L
Lymphoproliferative syndrome, EBV-associated, autosomal, 1; ; ITK
Lymphoproliferative syndrome, X-linked, 2; ; BIRC4
Lymphoproliferative syndrome, X-linked; ; SH2D1A
Lysinuric protein intolerance; ; SLC7A7
Lysosomal acid phosphatase deficiency; ; ACP2
Lysyl hydroxylase 3 deficiency; ; PLOD3
Machado–Joseph disease; ; ATXN3
Macrocephaly, alopecia, cutis laxa, and scoliosis; ; RIN2
Macrocephaly/autism syndrome; ; PTEN
Macrocytic anemia, refractory, due to 5q deletion, somatic; ; RPS14
Macrothrombocytopenia and progressive sensorineural deafness; ; MYH9
Macrothrombocytopenia; ; GATA1
Macrothrombocytopenia, autosomal dominant, TUBB1-related; ; TUBB1
Macular corneal dystrophy; ; CHST6
Macular degeneration, age-related, 11; ; CST3
Macular degeneration, age-related, 2; ; ABCA4
Macular degeneration, age-related, 3; ; FBLN5
Macular degeneration juvenile; ; CNGB3
Macular dystrophy, autosomal dominant, chromosome 6-linked; ; ELOVL4
Macular dystrophy, patterned; ; PRPH2
Macular dystrophy, retinal, 2; ; PROM1
Macular dystrophy, vitelliform; ; PRPH2
Majeed syndrome; ; LPIN2
Major depressive disorder 1; ; MDD1
Major depressive disorder 2; ; MDD2
Male infertility with large-headed, multiflagellar, polyploid spermatozoa; ; STK13
Male infertility, nonsyndromic, autosomal recessive; ; CATSPER1
Malonyl-CoA decarboxylase deficiency; ; MLYCD
Mandibuloacral dysplasia with type B lipodystrophy; ; ZMPSTE24
Mandibuloacral dysplasia; ; LMNA
Mannosidosis, alpha-, types I and II; ; MAN2B1
Mannosidosis, beta; ; MANBA
Maple syrup urine disease, type Ia; ; BCKDHA
Maple syrup urine disease, type Ib; ; BCKDHB
Maple syrup urine disease, type II; ; DBT
Maple syrup urine disease, type III; ; DLD
Marfan syndrome; ; FBN1
Marinesco–Sjögren syndrome; ; SIL1
Maroteaux–Lamy syndrome, several forms; ; ARSB
Marshall syndrome; ; COL11A1
Martsolf syndrome; ; RAB3GAP2
MASA syndrome; ; L1CAM
MASS syndrome; ; FBN1
Mast syndrome; ; ACP33
Maturity-onset diabetes of the young 6; ; NEUROD1
Maturity-onset diabetes of the young, type 10; ; INS
Maturity-onset diabetes of the young, type 11; ; BLK
Maturity-onset diabetes of the young, type IX; ; PAX4
Maturity-onset diabetes of the young, type VII; ; KLF11
Maturity-onset diabetes of the young, type VIII; ; CEL
May–Hegglin anomaly; ; MYH9
McArdle disease; ; PYGM
McCune–Albright syndrome; ; GNAS
McKusick–Kaufman syndrome; ; MKKS
Meacham syndrome; ; WT1
Meckel syndrome 7; ; NPHP3
Meckel syndrome type 4; ; CEP290
Meckel syndrome, type 1; ; MKS1
Meckel syndrome, type 3; ; TMEM67
Meckel syndrome, type 5; ; RPGRIP1L
Meckel syndrome, type 6; ; CC2D2A
Medullary cystic kidney disease 2; ; UMOD
Medullary thyroid carcinoma; ; RET
Medullary thyroid carcinoma, familial; ; NTRK1
Medulloblastoma; ; PTCH2
Medulloblastoma, desmoplastic; ; SUFU
Meesmann corneal dystrophy; ; KRT12
Meesmann corneal dystrophy; ; KRT3
Megalencephalic leukoencephalopathy with subcortical cysts; ; MLC1
Megaloblastic anemia-1, Finnish type; ; CUBN
Megaloblastic anemia-1, Norwegian type; ; AMN
Melanoma and neural system tumor syndrome; ; CDKN2A
Melanoma; ; CDK4
Melanoma, cutaneous malignant, 2; ; CDKN2A
Meleda disease; ; SLURP1
Melnick–Needles syndrome; ; FLNA
Melorheostosis with osteopoikilosis; ; LEMD3
Membranoproliferative glomerulonephritis with CFH deficiency; ; HF1
Meningioma; ; MN1
Meningioma, NF2-related, somatic; ; NF2
Menkes disease; ; ATP7A
Mental retardation and microcephaly with pontine and cerebellar hypoplasia; ; CASK
Mental retardation in cri-du-chat syndrome; ; CTNND2
Mental retardation syndrome, X-linked, Cabezas type; ; CUL4B
Mental retardation syndrome, X-linked, Siderius type; ; PHF8
Mental retardation, autosomal dominant 1; ; MBD5
Mental retardation, autosomal dominant 3; ; CDH15
Mental retardation, autosomal dominant 4; ; KIRREL3
Mental retardation, autosomal dominant 5; ; SYNGAP
Mental retardation, autosomal recessive 1; ; PRSS12
Mental retardation, autosomal recessive 13; ; TRAPPC9
Mental retardation, autosomal recessive 2A; ; CRBN
Mental retardation, autosomal recessive 3; ; CC2D1A
Mental retardation, autosomal recessive 7; ; TUSC3
Mental retardation, autosomal recessive, 6; ; GRIK2
Mental retardation, FRA12A type; ; DIP2B
Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities; ; PYCS
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; ; MEF2C
Mental retardation, truncal obesity, retinal dystrophy, and micropenis; ; INPP5E
Mental retardation, X-linked 1; ; IQSEC2
Mental retardation, X-linked 17/31, microduplication; ; HSD17B10
Mental retardation, X-linked 30; ; PAK3
Mental retardation, X-linked 36/43/54; ; ARX
Mental retardation, X-linked 45; ; ZNF81
Mental retardation, X-linked 58; ; TM4SF2
Mental retardation, X-linked 59; ; AP1S2
Mental retardation, X-linked 93; ; BRWD3
Mental retardation, X-linked 94; ; GRIA3
Mental retardation, X-linked 95; ; MAGT1
Mental retardation, X-linked nonspecific; ; GDI1
Mental retardation, X-linked nonspecific, 63; ; ACSL4
Mental retardation, X-linked nonspecific, type 46; ; ARHGEF6
Mental retardation, X-linked syndromic 10; ; HSD17B10
Mental retardation, X-linked syndromic, Christianson type; ; SLC9A6
Mental retardation, X-linked syndromic, Turner type; ; HUWE1
Mental retardation, X-linked, 21/34; ; IL1RAPL1
Mental retardation, X-linked; ; NLGN4
Mental retardation, X-linked, FRAXE type; ; AFF2
Mental retardation, X-linked, Lubs type; ; MECP2
Mental retardation, X-linked, Snyder-Robinson type; ; SMS
Mental retardation, X-linked, syndromic 13; ; MECP2
Mental retardation, X-linked, syndromic 14; ; UPF3B
Mental retardation, X-linked, syndromic, JARID1C-related; ; KDM5C
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance; ; OPHN1
Mental retardation, X-linked, with epilepsy; ; ATP6AP2
Mental retardation, X-linked, with isolated growth hormone deficiency; ; SOX3
Mental retardation, X-linked, with or without epilepsy; ; SYP
Mental retardation, X-linked, ZDHHC9-related; ; ZDHHC9
Mental retardation, X-linked-72; ; RAB39B
Mental retardation, X-linked-9; ; FTSJ1
Mental retardation, X-linked-91; ; ZDHHC15
Mental retardation-hypotonic facies syndrome, X-linked, 2; ; CUL4B
Mental retardation-hypotonic facies syndrome, X-linked; ; ATRX
Mephenytoin poor metabolizer; ; CYP2C
Metachondromatosis; ; PTPN11
Metachromatic leukodystrophy due to SAP-b deficiency; ; PSAP
Metachromatic leukodystrophy; ; ARSA
Metaphyseal anadysplasia 1; ; MMP13
Metaphyseal anadysplasia 2; ; MMP9
Metaphyseal chondrodysplasia, Murk Jansen type; ; PTHR1
Metaphyseal dysplasia without hypotrichosis; ; RMRP
Metatropic dysplasia; ; TRPV4
Methemoglobinemia, type I; ; CYB5R3
Methemoglobinemia, type II; ; CYB5R3
Methemoglobinemia, type IV; ; CYB5A
Methionine adenosyltransferase deficiency, autosomal recessive; ; MAT1A
Methylcobalamin deficiency, cblG type; ; MTR
Methylmalonic aciduria and homocystinuria, cblC type; ; MMACHC
Methylmalonic aciduria and homocystinuria, cblD type; ; C2orf25
Methylmalonic aciduria and homocystinuria, cblF type; ; LMBRD1
Methylmalonic aciduria due to transcobalamin receptor defect; ; CD320
Methylmalonic aciduria, cblD type, variant 2; ; C2orf25
Methylmalonic aciduria, vitamin B12-responsive; ; MMAA
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; ; MMAB
Methylmalonyl-CoA epimerase deficiency; ; MCEE
Mevalonic aciduria; ; MVK
MHC class II deficiency, complementation group B; ; RFXANK
Micochondrial phosphate carrier deficiency; ; SLC25A3
Microcephalic osteodysplastic primordial dwarfism type II; ; PCNT
Microcephaly and digital abnormalities with normal intelligence; ; MYCN
Microcephaly, Amish type; ; SLC25A19
Microcephaly, autosomal recessive 1; ; MCPH1
Microcephaly, primary autosomal recessive, 2; ; MCPH2
Microcephaly, primary autosomal recessive, 3; ; CDK5RAP2
Microcephaly, primary autosomal recessive, 4; ; MCPH4
Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern; ; ASPM
Microcephaly, primary autosomal recessive, 6; ; CEMPJ
Microcephaly, primary autosomal recessive, 7; ; STIL
Microcephaly, seizures, and developmental delaty; ; PNKP
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma; ; BEST1
Microphthalmia, isolated 2; ; CHX10
Microphthalmia, isolated 3; ; RAX
Microphthalmia, isolated 4; ; GDF6
Microphthalmia, isolated 5; ; MFRP
Microphthalmia, isolated, with cataract 2; ; SIX6
Microphthalmia, isolated, with cataract 4; ; CRYBA4
Microphthalmia, isolated, with coloboma 3; ; CHX10
Microphthalmia, isolated, with coloboma 5; ; SHH
Microphthalmia, syndromic 2; ; BCOR
Microphthalmia, syndromic 3; ; SOX2
Microphthalmia, syndromic 5; ; OTX2
Microphthalmia, syndromic 6; ; BMP4
Microphthalmia, syndromic 7; ; HCCS
Microphthalmia, syndromic 9; ; STRA6
Microtia, hearing impairment, and cleft palate; ; HOXA2
Microvillus inclusion disease; ; MYO5B
Migraine, familial basilar; ; ATP1A2
Migraine, familial hemiplegic, 2; ; ATP1A2
Migraine, familial hemiplegic, 3; ; SCN1A
Migraine, resistance to; ; EDNRA
Miller syndrome; ; DHODH
Minicore myopathy with external ophthalmoplegia; ; RYR1
Mirror movements, congenital; ; DCC
Mirror-image polydactyly; ; MIPOL1
Mismatch repair cancer syndrome; ; MLH1
Mismatch repair cancer syndrome; ; MSH2
Mismatch repair cancer syndrome; ; MSH6
Mismatch repair cancer syndrome; ; PMS2
Mitochondrial complex 1 deficiency; ; C20orf7
Mitochondrial complex I deficiency; ; NDUFA1
Mitochondrial complex I deficiency; ; NDUFA11
Mitochondrial complex I deficiency; ; NDUFAF2
Mitochondrial complex I deficiency; ; NDUFAF3
Mitochondrial complex I deficiency; ; NDUFAF4
Mitochondrial complex I deficiency; ; NDUFS1
Mitochondrial complex I deficiency; ; NDUFS2
Mitochondrial complex I deficiency; ; NDUFS4
Mitochondrial complex I deficiency; ; NDUFV1
Mitochondrial complex I deficiency; ; NDUFV2
Mitochondrial complex II deficiency; ; SDHAF1
Mitochondrial complex III deficiency; ; BCS1L
Mitochondrial complex III deficiency; ; UQCRB
Mitochondrial complex III deficiency; ; UQCRQ
Mitochondrial complex IV deficiency; ; FASTKD2
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria; ; SUCLA2
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; ; RRM2B
Mitochondrial DNA depletion syndrome, hepatocerebral form; ; C10orf2
Mitochondrial DNA depletion syndrome, hepatocerebral form; ; MPV17
Mitochondrial DNA depletion syndrome, myopathic form; ; TK2
Mitochondrial DNA-depletion syndrome, hepatocerebral form; ; DGUOK
Mitochondrial myopathy and sideroblastic anemia; ; PUS1
Mitochondrial neurogastrointestinal encephalomyopathy syndrome; ; TYMP
Mitochondrial respiratory chain complex II deficiency; ; SDHA
Miyoshi muscular dystrophy 3; ; ANO5
Miyoshi myopathy; ; DYSF
MNGIE without leukoencephalopathy; ; POLG
MODY, type I; ; HNF4A
MODY, type II; ; GCK
MODY, type III; ; HNF1A
MODY, type IV; ; IPF1
Mohr–Tranebjærg syndrome; ; TIMM8A
Molybdenum cofactor deficiency, type A; ; MOCS1
Molybdenum cofactor deficiency, type B; ; MOCS2
Molybdenum cofactor deficiency, type C; ; GPHN
Monilethrix; ; KRT81
Monilethrix; ; KRT83
Monilethrix; ; KRT86
Mononeuropathy of the median nerve, mild; ; SH3TC2
Morning glory disc anomaly; ; PAX6
Morquio syndrome B; ; GLB1
Mosaic variegated aneuploidy syndrome; ; BUB1B
Mowat–Wilson syndrome; ; ZEB2
Muckle–Wells syndrome; ; NLRP3
Mucolipidosis II alpha/beta; ; GNPTAB
Mucolipidosis III alpha/beta; ; GNPTAB
Mucolipidosis III gamma; ; GNPTAG
Mucolipidosis IV; ; MCOLN1
Mucopolysaccharidosis Ih; ; IDUA
Mucopolysaccharidosis Ih/s; ; IDUA
Mucopolysaccharidosis Is; ; IDUA
Mucopolysaccharidosis IVA; ; GALNS
Mucopolysaccharidosis type IIID; ; GNS
Mucopolysaccharidosis type IX; ; HYAL1
Mucopolysaccharidosis VII; ; GUSB
Muenke syndrome; ; FGFR3
Muir–Torre syndrome; ; MLH1
Muir–Torre syndrome; ; MSH2
Mulibrey nanism; ; TRIM37
Mullerian aplasia and hyperandrogenism; ; WNT4
Multiple cutaneous and uterine leiomyomata; ; FH
Multiple endocrine neoplasia IIA; ; RET
Multiple endocrine neoplasia IIB; ; RET
Multiple endocrine neoplasia, type IV; ; CDKN1B
Multiple pterygium syndrome, lethal type; ; CHRNA1
Multiple pterygium syndrome, lethal type; ; CHRND
Multiple pterygium syndrome, lethal type; ; CHRNG
Multiple sulfatase deficiency; ; SUMF1
Multiple synostoses syndrome 3; ; FGF9
Muscle glycogenosis; ; PHKA1
Muscular dystrophy with epidermolysis bullosa simplex; ; PLEC1
Muscular dystrophy, congenital merosin-deficient; ; LAMA2
Muscular dystrophy, congenital, due to ITGA7 deficiency; ; ITGA7
Muscular dystrophy, congenital, due to partial LAMA2 deficiency; ; LAMA2
Muscular dystrophy, limb-girdle, type 1A; ; TTID
Muscular dystrophy, limb-girdle, type 1B; ; LMNA
Muscular dystrophy, limb-girdle, type 2A; ; CAPN3
Muscular dystrophy, limb-girdle, type 2B; ; DYSF
Muscular dystrophy, limb-girdle, type 2C; ; SGCG
Muscular dystrophy, limb-girdle, type 2D; ; SGCA
Muscular dystrophy, limb-girdle, type 2E; ; SGCB
Muscular dystrophy, limb-girdle, type 2F; ; SGCD
Muscular dystrophy, limb-girdle, type 2G; ; TCAP
Muscular dystrophy, limb-girdle, type 2H; ; TRIM32
Muscular dystrophy, limb-girdle, type 2J; ; TTN
Muscular dystrophy, limb-girdle, type 2L; ; ANO5
Muscular dystrophy, limb-girdle, type IC; ; CAV3
Muscular dystrophy, rigid spine, 1; ; SEPN1
Myasthenia, limb-girdle, familial; ; AGRN
Myasthenia, limb-girdle, familial; ; DOK7
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; CHRNB1
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; CHRNE
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; MUSK
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; RAPSN
Myasthenic syndrome, congenital, associated with episodic apnea; ; CHAT
Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency; ; RAPSN
Myasthenic syndrome, fast-channel congenital; ; CHRNA1
Myasthenic syndrome, fast-channel congenital; ; CHRND
Myasthenic syndrome, fast-channel congenital; ; CHRNE
Myasthenic syndrome, slow-channel congenital; ; CHRNA1
Myasthenic syndrome, slow-channel congenital; ; CHRNB1
Myasthenic syndrome, slow-channel congenital; ; CHRND
Myasthenic syndrome, slow-channel congenital; ; CHRNE
Mycobacterial infection, atypical, familial disseminated; ; IFNGR1
Mycobacterial infection, atypical, familial disseminated; ; STAT1
Myelofibrosis, idiopathic; ; JAK2
Myeloperoxidase deficiency; ; MPO
Myeloproliferative disorder with eosinophilia; ; PDGFRB
Myoclonic epilepsy, severe, of infancy; ; GABRG2
Myoglobinuria, acute recurrent, autosomal recessive; ; LPIN1
Myokymia with neonatal epilepsy; ; KCNQ2
Myopathy due to CPT II deficiency; ; CPT2
Myopathy with lactic acidosis, hereditary; ; ISCU
Myopathy, actin, congenital, with excess of thin myofilaments; ; ACTA1
Myopathy, cardioskeletal, desmin-related, with cataract; ; CRYAB
Myopathy, centronuclear; ; DNM2
Myopathy, centronuclear; ; MYF6
Myopathy, centronuclear, autosomal recessive; ; BIN1
Myopathy, congenital, Compton-North; ; CNTN1
Myopathy, congenital, with fiber-type disproportion 1; ; ACTA1
Myopathy, desmin-related, cardioskeletal; ; DES
Myopathy, distal 2; ; MATR3
Myopathy, distal, with anterior tibial onset; ; DYSF
Myopathy, early-onset, with fatal cardiomyopathy; ; TTN
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; ; GFER
Myopathy, myofibrillar, BAG3-related; ; BAG3
Myopathy, myofibrillar, filamin C-related; ; FLNC
Myopathy, myofibrillar, ZASP-related; ; LDB3
Myopathy, myosin storage; ; MYH7
Myopathy, nemaline, 3; ; ACTA1
Myopathy, proximal, with early respiratory muscle involvement; ; TTN
Myopathy, reducing body, X-linked, childhood-onset; ; FHL1
Myopathy, reducing body, X-linked, severe early-onset; ; FHL1
Myopathy, spheroid body; ; TTID
Myopathy, X-linked, with postural muscle atrophy; ; FHL1
Myosclerosis, congenital; ; COL6A2
Myotilinopathy; ; TTID
Myotonia congenita, atypical, acetazolamide-responsive; ; SCN4A
Myotonia congenita, dominant; ; CLCN1
Myotonia congenita, recessive; ; CLCN1
Myotonic dystrophy; ; DMPK
Myotonic dystrophy, type 2; ; ZNF9
Myotubular myopathy, X-linked; ; MTM1
Myxoid liposarcoma; ; DDIT3
Myxoma, intracardiac; ; PRKAR1A
N syndrome; ; POLA
N-Acetylglutamate synthase deficiency; ; NAGS
Naegeli–Franceschetti–Jadassohn syndrome; ; KRT14
Nail–patella syndrome; ; LMX1B
Nance–Horan syndrome; ; NHS
Narcolepsy 1; ; HCRT
Nasopharyngeal carcinoma; ; TP53
Nasu–Hakola disease; ; TREM2
Nasu–Hakola disease; ; TYROBP
Naxos disease; ; JUP
Nemaline myopathy 1, autosomal dominant; ; TPM3
Nemaline myopathy 2, autosomal recessive; ; NEB
Nemaline myopathy 7; ; CFL2
Nemaline myopathy; ; TPM2
Nemaline myopathy, Amish type; ; TNNT1
Nephrogenic syndrome of inappropriate antidiuresis; ; AVPR2
Nephrolithiasis, type I; ; CLCN5
Nephrolithiasis/osteoporosis, hypophosphatemic, 1; ; SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2; ; SLC9A3R1
Nephronophthisis 1, juvenile; ; NPHP1
Nephronophthisis 2, infantile; ; INVS
Nephronophthisis 3; ; NPHP3
Nephronophthisis 4; ; NPHP4
Nephronophthisis 7; ; GLIS2
Nephropathy with pretibial epidermolysis bullosa and deafness; ; CD151
Nephrosis, congenital, with or without ocular abnormalities; ; LAMB2
Nephrotic syndrome, type 1; ; NPHS1
Nephrotic syndrome, type 2; ; PDCN
Nephrotic syndrome, type 3; ; PLCE1
Nephrotic syndrome, type 4; ; WT1
Netherton syndrome; ; SPINK5
Neural tube defect; ; VANGL1
Neuroblastoma; ; NME1
Neurodegeneration due to cerebral folate transport deficiency; ; FOLR1
Neurodegeneration with brain iron accumulation 1; ; PANK2
Neurodegeneration with brain iron accumulation 2B; ; PLA2G6
Neurodegeneration with brain iron accumulation 3; ; FTL
Neuroepithelioma; ; EWSR1
Neurofibromatosis, familial spinal; ; NF1
Neurofibromatosis type 1; ; NF1
Neurofibromatosis type 2; ; NF2
Neurofibromatosis-Noonan syndrome; ; NF1
Neuromuscular disease, congenital, with uniform type 1 fiber; ; RYR1
Neuronopathy, distal hereditary motor, type IIC; ; HSPB3
Neuronopathy, distal hereditary motor, type VI; ; IGHMBP2
Neuropathy, congenital hypomyelinating, 1; ; EGR2
Neuropathy, congenital hypomyelinating; ; MPZ
Neuropathy, distal hereditary motor, type IIA; ; HSPB8
Neuropathy, distal hereditary motor, type IIB; ; HSPB1
Neuropathy, distal hereditary motor, type V; ; BSCL2
Neuropathy, distal hereditary motor, type V; ; GARS
Neuropathy, distal hereditary motor, type VIIB; ; DCTN1
Neuropathy, hereditary sensory and autonomic, type 1; ; SPTLC1
Neuropathy, hereditary sensory and autonomic, type II; ; WNK1
Neuropathy, hereditary sensory and autonomic, type IIB; ; FAM134B
Neuropathy, hereditary sensory and autonomic, type V; ; NGFB
Neuropathy, hereditary sensory, with spastic paraplegia; ; CCT5
Neuropathy, hereditary sensory/autonomic, type IC; ; SPTLC2
Neuropathy, recurrent, with pressure palsies; ; PMP22
Neutral lipid storage disease with myopathy; ; PNPLA2
Neutropenia, nonimmune chronic idiopathic, of adults; ; GFI1
Neutropenia, severe congenital, autosomal dominant 1; ; ELANE
Neutropenia, severe congenital, autosomal dominant 2; ; GFI1
Neutropenia, severe congenital, autosomal recessive 3; ; HAX1
Neutropenia, severe congenital, autosomal recessive 4; ; G6PC3
Neutropenia, severe congenital, X-linked; ; WAS
Neutrophil immunodeficiency syndrome; ; RAC2
Neutrophilia, hereditary; ; CSF3R
Nevo syndrome; ; PLOD
Nevus, epidermal; ; PIK3CA
Nevus, epidermal, epidermolytic hyperkeratotic type; ; KRT10
Nevus, keratinocytic, nonepidermolytic; ; FGFR3
Newfoundland rod-cone dystrophy; ; RLBP1
Niemann–Pick disease, type A; ; SMPD1
Niemann–Pick disease, type B; ; SMPD1
Niemann–Pick disease, type C1; ; NPC1
Niemann–Pick disease, type C2; ; NPC2
Niemann–Pick disease type D; ; NPC1
Night blindness, congenital stationary, autosomal dominant 2; ; PDE6B
Night blindness, congenital stationary, autosomal dominant 3; ; GNAT1
Night blindness, congenital stationary, type 1; ; CSNB1
Night blindness, congenital stationary, type 1B; ; GRM6
Night blindness, congenital stationary, type 2B; ; CABP4
Night blindness, congenital stationary, type IC; ; TRPM1
Night blindness, congenital stationary, X-linked, type 2A; ; CACNA1F
Night blindness, congenital stationary, autosomal dominant 1; ; RHO
Nijmegen breakage syndrome; ; NBS1
Nijmegen breakage syndrome-like disorder; ; RAD50
Nonaka myopathy; ; GNE
Non-Hodgkin lymphoma, somatic; ; CASP10
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in; ; EGFR
Nonsmall cell lung cancer, somatic; ; IRF1
Nonsmall cell lung cancer, somatic; ; PIK3CA
Noonan syndrome 1; ; PTPN11
Noonan syndrome 3; ; KRAS
Noonan syndrome 4; ; SOS1
Noonan syndrome 5; ; RAF1
Noonan syndrome 6; ; NRAS
Noonan-like syndrome with loose anagen hair; ; SHOC2
Norrie disease; ; NDP
Norum disease; ; LCAT
Nystagmus 1, congenital, X-linked; ; FRMD7
Nystagmus 6, congenital, X-linked; ; GPR143
Obesity with impaired prohormone processing; ; PCSK1
Obesity, adrenal insufficiency, and red hair due to POMC deficiency; ; POMC
Obesity, autosomal dominant; ; MC4R
Obesity, mild, early-onset; ; NR0B2
Obesity, severe; ; PPARG
Obesity, severe; ; SIM1
Occipital horn syndrome; ; ATP7A
Ocular albinism, type I, Nettleship-Falls type; ; GPR143
Oculoauricular syndrome; ; HMX1
Oculocutaneous albinism, type IV; ; SLC45A2
Oculodentodigital dysplasia; ; GJA1
Oculodentodigital dysplasia, autosomal recessive; ; GJA1
Oculopharyngeal muscular dystrophy; ; PABPN1
Odontohypophosphatasia; ; ALPL
Odontoonychodermal dysplasia; ; WNT10A
Ogden syndrome; ; NAA10
Oguchi disease-1; ; SAG
Oguchi disease-2; ; GRK1
OI type II; ; COL1A1
OI type III; ; COL1A1
OI type IV; ; COL1A1
Oligodontia-colorectal cancer syndrome; ; AXIN2
Omenn syndrome; ; DCLRE1C
Omenn syndrome; ; RAG1
Omenn syndrome; ; RAG2
Omodysplasia 1; ; GPC6
Opitz G syndrome, type I; ; MID1
Opitz–Kaveggia syndrome; ; MED12
Opremazole poor metabolizer; ; CYP2C
Optic atrophy 1; ; OPA1
Optic atrophy and cataract; ; OPA3
Optic atrophy and deafness; ; OPA1
Optic atrophy-7; ; TMEM126A
Optic nerve coloboma with renal disease; ; PAX2
Optic nerve hypoplasia and abnormalities of the central nervous system; ; SOX2
Optic nerve hypoplasia; ; PAX6
Oral-facial-digital syndrome 1; ; OFD1
Ornithine transcarbamylase deficiency; ; OTC
Orofacial cleft 11; ; BMP4
Orofacial cleft 5; ; MSX1
Orofacial cleft 6; ; IRF6
Orofacial cleft 7; ; HVEC
Orofacial cleft 8; ; TP63
Orthostatic intolerance; ; SLC6A2
Osseous heteroplasia, progressive; ; GNAS
Ossification of posterior longitudinal ligament of spine; ; ENPP1
Osteoarthritis with mild chondrodysplasia; ; COL2A1
Osteochondritis dissecans, short stature, and early-onset osteoarthritis; ; ACAN
Osteogenesis imperfecta, type I; ; COL1A1
Osteogenesis imperfecta, type II; ; COL1A2
Osteogenesis imperfecta, type IIB; ; CRTAP
Osteogenesis imperfecta, type III; ; COL1A2
Osteogenesis imperfecta, type IV; ; COL1A2
Osteogenesis imperfecta, type IX; ; PPIB
Osteogenesis imperfecta, type VI; ; FKBP10
Osteogenesis imperfecta, type VII; ; CRTAP
Osteogenesis imperfecta, type VIII; ; LEPRE1
Osteoglophonic dysplasia; ; FGFR1
Osteolysis, familial expansile; ; TNFRSF11A
Osteopathia striata with cranial sclerosis; ; FAM123B
Osteopetrosis, AD type I; ; LRP5
Osteopetrosis, autosomal dominant 2; ; CLCN7
Osteopetrosis, autosomal recessive 2; ; TNFSF11
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis; ; CA2
Osteopetrosis, autosomal recessive 4; ; CLCN7
Osteopetrosis, autosomal recessive 5; ; OSTM1
Osteopetrosis, autosomal recessive 6; ; PLEKHM1
Osteopetrosis, autosomal recessive 7; ; TNFRSF11A
Osteopetrosis, recessive 1; ; TCIRG1
Osteopoikilosis; ; LEMD3
Osteoporosis, involutional; ; VDR
Osteoporosis-pseudoglioma syndrome; ; LRP5
Osteosarcoma; ; LOH18CR1
Osteosarcoma; ; RB1
Osteosarcoma; ; TP53
Osteosarcoma, somatic; ; CHEK2
Osteosclerosis; ; LRP5
Otofaciocervical syndrome; ; EYA1
Otopalatodigital syndrome, type I; ; FLNA
Otopalatodigital syndrome, type II; ; FLNA
Otospondylomegaepiphyseal dysplasia; ; COL11A2
Ovarian cancer; ; CTNNB1
Ovarian cancer, somatic; ; AKT1
Ovarian cancer, somatic; ; PIK3CA
Ovarian dysgenesis 1; ; FSHR
Ovarian dysgenesis 2; ; BMP15
Ovarian hyperstimulation syndrome; ; FSHR
Ovarian response to FSH stimulation; ; FSHR
Ovarioleukodystrophy; ; EIF2B2
Ovarioleukodystrophy; ; EIF2B4
Ovarioleukodystrophy; ; EIF2B5
Pachyonychia congenita Jackson Lawler type; ; KRT17
Pachyonychia congenita Jackson Lawler type; ; KRT6B
Pachyonychia congenita, Jadassohn-Lewandowsky type; ; KRT16
Pachyonychia congenita, Jadassohn-Lewandowsky type; ; KRT6A
Paget disease of bone; ; PDB4
Paget disease of bone; ; SQSTM1
Paget disease of bone; ; TNFRSF11A
Paget disease, juvenile; ; TNFRSF11B
Pallister–Hall syndrome; ; GLI3
Palmoplantar hyperkeratosis and true hermaphroditism; ; RSPO1
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; ; RSPO1
Palmoplantar keratoderma, nonepidermolytic; ; KRT16
Palmoplantar keratoderma, nonepidermolytic, focal; ; KRT16
Palmoplantar verrucous nevus, unilateral; ; KRT16
Pancreatic agenesis; ; IPF1
Pancreatic cancer; ; TP53
Pancreatic cancer; ; BRCA2
Pancreatic cancer/melanoma syndrome; ; CDKN2A
Pancreatic carcinoma, somatic; ; KRAS
Pancreatitis, hereditary; ; PRSS1
Pancreatitis, hereditary; ; SPINK1
Panhypopituitarism, X-linked; ; SOX3
Papillon–Lefèvre syndrome; ; CTSC
Paraganglioma and gastric stromal sarcoma; ; SDHB
Paraganglioma and gastric stromal sarcoma; ; SDHC
Paraganglioma and gastric stromal sarcoma; ; SDHD
Paraganglioma, familial chromaffin, 4; ; SDHB
Paragangliomas 2; ; SDHAF2
Paragangliomas, familial nonchromaffin, 1, with or without deafness; ; SDHD
Paragangliomas, familial nonchromaffin, 3; ; SDHC
Paramyotonia congenita; ; SCN4A
Parathyroid adenoma with cystic changes; ; HRPT2
Parathyroid carcinoma; ; HRPT2
Parietal foramina 1; ; MSX2
Parietal foramina 2; ; ALX4
Parietal foramina with cleidocranial dysplasia; ; MSX2
Parkes Weber syndrome; ; RASA1
Parkinson disease 11; ; GIGYF2
Parkinson disease 13; ; HTRA2
Parkinson disease 15, autosomal recessive; ; FBXO7
Parkinson disease 4; ; SNCA
Parkinson disease 6, early onset; ; PINK1
Parkinson disease 7, autosomal recessive early-onset; ; DJ1
Parkinson disease 9; ; ATP13A2
Parkinson disease, juvenile, type 2; ; PRKN
Parkinson disease-8; ; LRRK2
Parkinsonism-dystonia, infantile; ; SLC6A3
Paroxysmal extreme pain disorder; ; SCN9A
Paroxysmal nocturnal hemoglobinuria, somatic; ; PIGA
Paroxysmal nonkinesigenic dyskinesia; ; MR1
Partington syndrome; ; ARX
PCWH syndrome; ; SOX10
Peeling skin syndrome, acral type; ; TGM5
Pelger–Huët anomaly; ; LBR
Pelizaeus–Merzbacher disease; ; PLP1
Pendred syndrome; ; SLC26A4
Pentosuria; ; DCXR
Periodic fever, familial; ; TNFRSF1A
Periodontitis, juvenile; ; CTSC
Periventricular heterotopia with microcephaly; ; ARFGEF2
Peroxisomal acyl-CoA oxidase deficiency; ; ACOX1
Perry syndrome; ; DCTN1
Persistent Mullerian duct syndrome, type I; ; AMH
Persistent Mullerian duct syndrome, type II; ; AMHR2
Persistent truncus arteriosus; ; NKX2-6
Peters anomaly; ; CYP1B1
Peters anomaly; ; PAX6
Peters anomaly; ; PITX2
Peters-plus syndrome; ; B3GALTL; B3GTL
Peutz–Jeghers syndrome; ; STK11
Pfeiffer syndrome; ; FGFR1
Pfeiffer syndrome; ; FGFR2
Phenylketonuria; ; PAH
Pheochromocytoma; ; KIF1B
Pheochromocytoma; ; RET
Pheochromocytoma; ; SDHB
Pheochromocytoma; ; SDHD
Pheochromocytoma; ; VHL
Phosphoglycerate dehydrogenase deficiency; ; PHGDH
Phosphoglycerate kinase 1 deficiency; ; PGK1
Phosphoribosylpyrophosphate synthetase superactivity; ; PRPS1
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive; ; PHKB
Phosphoserine aminotransferase deficiency; ; PSAT1
Pick disease; ; MAPT
Pick disease; ; PSEN1
Piebaldism; ; SNAI2
Pierson syndrome; ; LAMB2
Pigmented adrenocortical disease, primary, 1; ; PRKAR1A
Pigmented nodular adrenocortical disease, primary, 2; ; PDE11A
Pigmented paravenous chorioretinal atrophy; ; CRB1
Pilomatricoma; ; CTNNB1
Pitt–Hopkins-like syndrome 1; ; CNTNAP2
Pitt–Hopkins syndrome; ; TCF4
Pituitary adenoma, ACTH-secreting; ; AIP
Pituitary adenoma, growth hormone-secreting; ; AIP
Pituitary adenoma, prolactin-secreting; ; AIP
Pituitary hormone deficiency, combined, 1; ; POU1F1
Pituitary hormone deficiency, combined, 2; ; PROP1
Pituitary hormone deficiency, combined, 3; ; LHX3
Pituitary hormone deficiency, combined, 4; ; LHX4
Pituitary hormone deficiency, combined, 5; ; HESX1
Plamoplantar keratoderma, epidermolytic; ; KRT1
Plasminogen activator inhibitor, type I; ; PAI1
Platelet disorder, familial, with associated myeloid malignancy; ; RUNX1
Platelet glycoprotein IV deficiency; ; CD36
Pleuropulmonary blastoma; ; DICER1
Pneumothorax, primary spontaneous; ; FLCN
Poikiloderma with neutropenia; ; C16orf57
Polycystic kidney and hepatic disease; ; FCYT
Polycystic kidney disease 2; ; PKD2
Polycystic kidney disease, adult type I; ; PKD1
Polycystic liver disease; ; PRKCSH
Polycystic liver disease; ; SEC63
Polycystic ovary syndrome; ; FST
Polycythemia vera; ; JAK2
Polycythemia, benign familial; ; VHL
Polydactyly, postaxial, types A1 and B; ; GLI3
Polydactyly, preaxial type II; ; LMBR1
Polydactyly, preaxial, type IV; ; GLI3
Polyhydramnios, megalencephaly, and symptomatic epilepsy; ; STRADA
Polymicrogyria with optic nerve hypoplasia; ; TUBA8
Polymicrogyria, asymmetric; ; TUBB2B
Polymicrogyria, bilateral frontoparietal; ; GPR56
Polyposis syndrome, hereditary mixed, 2; ; BMPR1A
Polyposis, juvenile intestinal; ; BMPR1A
Polyposis, juvenile intestinal; ; MADH4
Pontocerebellar hypoplasia type 1; ; VRK1
Pontocerebellar hypoplasia type 2A; ; TSEN54
Pontocerebellar hypoplasia type 2B; ; TSEN2
Pontocerebellar hypoplasia type 2C; ; TSEN34
Pontocerebellar hypoplasia type 4; ; TSEN54
Pontocerebellar hypoplasia, type 6; ; RARS2
Popliteal pterygium syndrome; ; IRF6
POR deficiency; ; POR
Porencephaly; ; COL4A1
Porokeratosis, disseminated superficial actinic, 1; ; SART3
Porphyria cutanea tarda; ; UROD
Porphyria variegata; ; PPOX
Porphyria, acute hepatic; ; ALAD
Porphyria, acute intermittent; ; HMBS
Porphyria, acute intermittent, nonerythroid variant; ; HMBS
Porphyria, congenital erythropoietic; ; UROS
Porphyria, hepatoerythropoietic; ; UROD
Prader–Willi syndrome; ; NDN
Prader–Willi syndrome; ; SNRPN
Precocious puberty, central; ; KISS1R
Precocious puberty, male; ; LHCGR
Premature chromosome condensation with microcephaly and mental retardation; ; MCPH1
Premature ovarian failure 2B; ; FLJ22792
Premature ovarian failure 3; ; FOXL2
Premature ovarian failure 4; ; BMP15
Premature ovarian failure 5; ; NOBOX
Premature ovarian failure 6; ; FIGLA
Premature ovarian failure 7; ; NR5A1
Premature ovarian failure; ; DIAPH2
Primary lateral sclerosis, juvenile; ; ALS2
Prion disease with protracted course; ; PRNP
Progesterone resistance; ; PGR
Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; ; SLC25A4
Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; ; C10orf2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; ; POLG2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5; ; RRM2B
Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadism; ; POLG
Progressive external ophthalmoplegia, autosomal recessive; ; POLG
Progressive familial heart block, type IB; ; TRPM4
Proguanil poor metabolizer; ; CYP2C
Prolidase deficiency; ; PEPD
Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome; ; FLVCR2
Properdin deficiency, X-linked; ; PFC
Propionicacidemia; ; PCCA
Propionicacidemia; ; PCCB
Prostate cancer 1, 176807; ; RNASEL
Prostate cancer; ; BRCA2
Prostate cancer, hereditary; ; MSR1
Prostate cancer, progression and metastasis of; ; EPHB2
Prostate cancer, somatic; ; KLF6
Prostate cancer, somatic; ; MAD1L1
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; ; CLCN5
Protoporphyria, erythropoietic, autosomal dominant; ; FECH
Protoporphyria, erythropoietic, autosomal recessive; ; FECH
Protoporphyria, erythropoietic, X-linked dominant; ; ALAS2
Proud syndrome; ; ARX
Pseudoachondroplasia; ; COMP
Pseudohermaphroditism, male, with gynecomastia; ; HSD17B3
Pseudohyperkalemia, familial; ; PIEZO1
Pseudohypoaldosteronism type I, autosomal dominant; ; NR3C2
Pseudohypoaldosteronism type II; ; WNK4
Pseudohypoaldosteronism, type I; ; SCNN1A
Pseudohypoaldosteronism, type I; ; SCNN1B
Pseudohypoaldosteronism, type I; ; SCNN1G
Pseudohypoaldosteronism, type IIC; ; WNK1
Pseudohypoparathyroidism Ia; ; GNAS
Pseudohypoparathyroidism Ib; ; GNAS
Pseudohypoparathyroidism Ic; ; GNAS
Pseudohypoparathyroidism, type IB; ; GNASAS
Pseudohypoparathyroidism, type IB; ; STX16
Pseudovaginal perineoscrotal hypospadias; ; SRD5A2
Pseudoxanthoma elasticum; ; ABCC6
Pseudoxanthoma elasticum, forme fruste; ; ABCC6
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; ; GGCX
Ptosis, congenital; ; ZFHX4
Pulmonary alveolar microlithiasis; ; SLC34A2
Pulmonary alveolar proteinosis; ; CSF2RA
Pulmonary fibrosis, idiopathic; ; SFTPA2
Pulmonary hypertension, familial primary; ; BMPR2
Pulmonary hypertension, primary; ; MADH9
Pulmonary hypertension, primary, fenfluramine-associated; ; BMPR2
Pulmonary veno occlusive disease; ; BMPR2
Pycnodysostosis; ; CTSK
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency; ; MYD88
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne; ; PSTPIP1
Pyridoxamine 5'-phosphate oxidase deficiency; ; PNPO
Pyropoikilocytosis; ; SPTA1
Pyruvate carboxylase deficiency; ; PC
Pyruvate dehydrogenase deficiency; ; PDHA1
Pyruvate dehydrogenase E2 deficiency; ; DLAT
Pyruvate dehydrogenase phosphatase deficiency; ; PDP1
Pyruvate kinase deficiency; ; PKLR
Rabson–Mendenhall syndrome; ; INSR
Radioulnar synostosis with amegakaryocytic thrombocytopenia; ; HOXA11
Raine syndrome; ; FAM20C
RAPADILINO syndrome; ; RECQL4
Rapp–Hodgkin syndrome; ; TP63
Recombination rate QTL 1; ; RNF212
Refsum disease; ; PEX7
Refsum disease; ; PHYH
Refsum disease, infantile form; ; PEX26
Refsum disease, infantile form; ; PXMP3
Refsum disease, infantile; ; PEX1
Renal adysplasia; ; UPK3A
Renal agenesis; ; RET
Renal carcinoma, chromophobe, somatic; ; FLCN
Renal cell carcinoma; ; DIRC2
Renal cell carcinoma; ; HNF1A
Renal cell carcinoma; ; RNF139
Renal cell carcinoma, clear cell, somatic; ; OGG1
Renal cell carcinoma, papillary, 1; ; PRCC
Renal cell carcinoma, papillary, 1; ; TFE3
Renal cell carcinoma, papillary, familial and sporadic; ; MET
Renal cell carcinoma, somatic; ; VHL
Renal cysts and diabetes syndrome; ; HNF1B
Renal glucosuria; ; SLC5A2
Renal tubular acidosis with deafness; ; ATP6B1
Renal tubular acidosis, distal, AD; ; SLC4A1
Renal tubular acidosis, distal, AR; ; SLC4A1
Renal tubular acidosis, distal, autosomal recessive; ; ATP6V0A4
Renal tubular acidosis, proximal, with ocular abnormalities; ; SLC4A4
Renal tubular dysgenesis; ; ACE
Renal tubular dysgenesis; ; AGT
Renal tubular dysgenesis; ; AGTR1
Renal tubular dysgenesis; ; REN
Renal-hepatic-pancreatic dysplasia; ; NPHP3
Renpenning syndrome; ; PQBP1
Restrictive dermopathy, lethal; ; ZMPSTE24
Reticular dysgenesis; ; AK2
Retinal cone dystrophy 3; ; PDE6H
Retinal cone dystrophy 3B; ; KCNV2
Retinal cone dystrophy 4; ; CACNA2D4
Retinal degeneration, late-onset, autosomal dominant; ; C1QTNF5
Retinal dystrophy, early-onset severe; ; ABCA4
Retinal dystrophy, early-onset severe; ; LRAT
Retinitis pigmentosa 33; ; SNRNP200
Retinitis pigmentosa 51; ; TTC8
Retinitis pigmentosa 54; ; C2orf71
Retinitis pigmentosa 55; ; ARL6
Retinitis pigmentosa 58; ; ZNF513
Retinitis pigmentosa, concentric; ; BEST1
Retinitis pigmentosa, digenic; ; PRPH2
Retinitis pigmentosa, juvenile; ; LRAT
Retinitis pigmentosa, juvenile, autosomal recessive; ; SPATA7
Retinitis pigmentosa, late-onset dominant; ; CRX
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; ; RPGR
Retinitis pigmentosa-1; ; RP1
Retinitis pigmentosa-10; ; IMPDH1
Retinitis pigmentosa-11; ; PRPF31
Retinitis pigmentosa-12, autosomal recessive; ; CRB1
Retinitis pigmentosa-13; ; PRPF8
Retinitis pigmentosa-14; ; TULP1
Retinitis pigmentosa-17; ; CA4
Retinitis pigmentosa-18; ; HPRP3
Retinitis pigmentosa-19; ; ABCA4
Retinitis pigmentosa-2; ; RP2
Retinitis pigmentosa-25; ; EYS
Retinitis pigmentosa-26; ; CERKL
Retinitis pigmentosa-3; ; RPGR
Retinitis pigmentosa-30; ; FSCN2
Retinitis pigmentosa-31; ; TOPORS
Retinitis pigmentosa-35; ; SEMA4A
Retinitis pigmentosa-36; ; PRCD
Retinitis pigmentosa-37; ; NR2E3
Retinitis pigmentosa-38; ; MERTK
Retinitis pigmentosa-39; ; USH2A
Retinitis pigmentosa-41; ; PROM1
Retinitis pigmentosa-42; ; KLHL7
Retinitis pigmentosa-45; ; CNGB1
Retinitis pigmentosa-50; ; BEST1
Retinitis pigmentosa-7; ; PRPH2
Retinitis pigmentosa-9; ; RP9
Retinitis punctata albescens; ; PRPH2
Retinitis punctata albescens; ; RLBP1
Retinopathy of prematurity; ; FZD4
Rett syndrome; ; MECP2
Rett syndrome, congenital variant; ; FOXG1B
Rett syndrome, preserved speech variant; ; MECP2
Revesz syndrome; ; TINF2
Reynolds syndrome; ; LBR
Rhabdoid predisposition syndrome 1; ; SMARCB1
Rhabdoid tumor predisposition syndrome 2; ; SMARCA4
Rhabdomyosarcoma 2, alveolar; ; PAX3
Rhabdomyosarcoma 2, alveolar; ; PAX7
Rhabdomyosarcoma; ; SLC22A1L
Rhabdomyosarcoma, alveolar; ; FOXO1A
Rhizomelic chondrodysplasia punctata type 1; ; PEX7
Rhizomelic chondrodysplasia punctata type 3; ; AGPS
Ribose-5-phosphate isomerase deficiency; ; RPIA
Rickets due to defect in vitamin D 25-hydroxylation; ; CYP2R1
Rickets, vitamin D-resistant, type IIA; ; VDR
RIDDLE syndrome; ; RNF168
Rieger or Axenfeld anomalies; ; FOXC1
Ring dermoid of cornea; ; PITX2
Rippling muscle disease; ; CAV3
Rippling muscle disease-1; ; RMD1
Roberts syndrome; ; ESCO2
Robinow syndrome, autosomal recessive; ; ROR2
Rolandic epilepsy, mental retardation, and speech dyspraxia; ; SRPX2
Rothmund–Thomson syndrome; ; RECQL4
Roussy–Lévy syndrome; ; MPZ
Roussy–Lévy syndrome; ; PMP22
Rubenstein-Taybi syndrome; ; CREBBP
Rubinstein–Taybi syndrome; ; EP300
Saccharopinuria; ; AASS
Saethre–Chotzen syndrome with eyelid anomalies; ; TWIST1
Saethre–Chotzen syndrome; ; FGFR2
Saethre–Chotzen syndrome; ; TWIST1
Salla disease; ; SLC17A5
Sandhoff disease, infantile, juvenile, and adult forms; ; HEXB
Sanfilippo syndrome, type A; ; SGSH
Sanfilippo syndrome, type B; ; NAGLU
Sanfilippo syndrome, type C; ; HGSNAT
Sarcoidosis, early-onset; ; NOD2
SC phocomelia syndrome; ; ESCO2
Scapuloperoneal myopathy, X-linked dominant; ; FHL1
Scapuloperoneal spinal muscular atrophy; ; TRPV4
Scapuloperoneal syndrome, myopathic type; ; MYH7
Scapuloperoneal syndrome, neurogenic, Kaeser type; ; DES
Schimke immunoosseous dysplasia; ; SMARCAL1
Schindler disease, type I; ; NAGA
Schindler disease, type III; ; NAGA
Schinzel–Giedion midface retraction syndrome; ; SETBP1
Schizencephaly; ; EMX2
Schizophrenia; ; DISC2
Schneckenbecken dysplasia; ; SLC35D1
Schöpf–Schulz–Passarge syndrome; ; WNT10A
Schwannomatosis; ; NF2
Schwartz–Jampel syndrome, type 1; ; HSPG2
Sclerosteosis; ; SOST
Sea-blue histiocyte disease; ; APOE
Sebastian syndrome; ; MYH9
Seborrhea-like dermatitis with psoriasiform elements; ; ZNF750
Seckel syndrome 1; ; ATR
SED congenita; ; COL2A1
Segawa syndrome, recessive; ; TH
Self-healing collodion baby; ; TGM1
SEMD, Pakistani type; ; PAPSS2
Senior–Loken syndrome 4; ; NPHP4
Senior–Loken syndrome 5; ; IQCB1
Senior–Loken syndrome 6; ; CEP290
Senior–Loken syndrome-1; ; NPHP1
Sensorineural deafness with mild renal dysfunction; ; BSND
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; ; POLG
Septo-optic dysplasia; ; HESX1
SERKAL syndrome; ; WNT4
Sertoli cell-only syndrome; ; ZNF148
SESAME syndrome; ; KCNJ10
Severe combined immunodeficiency due to ADA deficiency; ; ADA
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; ; NHEJ1
Severe combined immunodeficiency, Athabascan type; ; DCLRE1C
Severe combined immunodeficiency, B cell-negative; ; RAG1
Severe combined immunodeficiency, B cell-negative; ; RAG2
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; ; CD3D
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; ; CD3E
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; ; PTPRC
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type; ; IL7R
Severe combined immunodeficiency, X-linked; ; IL2RG
Short QT syndrome-1; ; KCNH2
Short QT syndrome-2; ; KCNQ1
Short QT syndrome-3; ; KCNJ2
Short rib-polydactyly syndrome, type III; ; DYNC2H1
Short stature; ; GHSR
Short stature, idiopathic familial; ; SHOX
Short stature, idiopathic familial; ; SHOXY
Short stature, idiopathic; ; GHR
Shprintzen–Goldberg syndrome; ; FBN1
Shwachman–Bodian–Diamond syndrome; ; SBDS
Sialic acid storage disorder, infantile; ; SLC17A5
Sialidosis, type I; ; NEU1
Sialidosis, type II; ; NEU1
Sialuria; ; GNE
Sick sinus syndrome 1; ; SCN5A
Sick sinus syndrome 2; ; HCN4
Sickle cell anemia; ; HBB
Silver spastic paraplegia syndrome; ; BSCL2
Silver–Russell syndrome; ; H19
Simpson-Golabi-Behmel syndrome, type 1; ; GPC3
Simpson-Golabi-Behmel syndrome, type 2; ; OFD1
Sitosterolemia; ; ABCG5
Sitosterolemia; ; ABCG8
Sjögren–Larsson syndrome; ; ALDH3A2
Skeletal defects, genital hypoplasia, and mental retardation; ; ZBTB16
Skin fragility-woolly hair syndrome; ; DSP
Skin/hair/eye pigmentation 9, dark/light hair; ; ASIP
Slowed nerve conduction velocity, AD; ; ARHGEF10
Small patella syndrome; ; TBX4
SMED, Strudwick type; ; COL2A1
Smith–Lemli–Opitz syndrome; ; DHCR7
Smith–Magenis syndrome; ; RAI1
Smith–McCort dysplasia; ; DYM
Snowflake vitreoretinal degeneration; ; KCNJ13
Solitary median maxillary central incisor; ; SHH
Somatostatin analog, resistance to; ; SSTR5
Sorsby fundus dystrophy; ; TIMP3
Sotos syndrome; ; NSD1
Spastic ataxia, Charlevoix-Saguenay type; ; SACS
Spastic paralysis, infantile onset ascending; ; ALS2
Spastic paraplegia 10; ; KIF5A
Spastic paraplegia 15; ; ZFYVE26
Spastic paraplegia 31; ; REEP1
Spastic paraplegia 33; ; ZFYVE27
Spastic paraplegia 39; ; PNPLA6
Spastic paraplegia, 44; ; GJC2
Spastic paraplegia-11; ; SPG11
Spastic paraplegia-13; ; HSPD1
Spastic paraplegia-2; ; PLP1
Spastic paraplegia-3A; ; SPG3A
Spastic paraplegia-4; ; SPAST
Spastic paraplegia-42; ; SLC33A1
Spastic paraplegia-5A; ; CYP7B1
Spastic paraplegia-6; ; NIPA1
Spastic paraplegia-7; ; PGN
Spastic paraplegia-8; ; KIAA0196
Specific granule deficiency; ; CEBPE
Speech-language disorder-1; ; FOXP2
Spherocytosis, hereditary, type 5; ; EPB42
Spherocytosis, type 1; ; ANK1
Spherocytosis, type 3; ; SPTA1
Spherocytosis, type 4; ; SLC4A1
Spinal and bulbar muscular atrophy of Kennedy; ; AR
Spinal muscular atrophy, distal, autosomal recessive, 4; ; PLEKHG5
Spinal muscular atrophy, distal, X-linked 3; ; ATP7A
Spinal muscular atrophy, late-onset, Finkel type; ; VAPB
Spinal muscular atrophy, X-linked 2, infantile; ; UBE1
Spinal muscular atrophy-1; ; SMN1
Spinal muscular atrophy-2; ; SMN1
Spinal muscular atrophy-3; ; SMN1
Spinal muscular atrophy-4; ; SMN1
Spinocerebellar ataxia 12; ; PPP2R2B
Spinocerebellar ataxia 14; ; PRKCG
Spinocerebellar ataxia 15; ; ITPR1
Spinocerebellar ataxia 17; ; TBP
Spinocerebellar ataxia 28; ; AFG3L2
Spinocerebellar ataxia 31; ; BEAN
Spinocerebellar ataxia 8; ; ATXN8OS
Spinocerebellar ataxia 8; ; ATXN8
Spinocerebellar ataxia with epilepsy; ; POLG
Spinocerebellar ataxia, autosomal recessive 5; ; ZNF592
Spinocerebellar ataxia, autosomal recessive 8; ; SYNE1
Spinocerebellar ataxia, autosomal recessive 9; ; CABC1
Spinocerebellar ataxia, autosomal recessive with axonal neuropathy; ; TDP1
Spinocerebellar ataxia, infantile-onset; ; C10orf2
Spinocerebellar ataxia-1; ; ATXN1
Spinocerebellar ataxia-10; ; ATXN10
Spinocerebellar ataxia-11; ; TTBK2
Spinocerebellar ataxia-13; ; KCNC3
Spinocerebellar ataxia-2; ; ATXN2
Spinocerebellar ataxia-27; ; FGF14
Spinocerebellar ataxia-5; ; SPTBN2
Spinocerebellar ataxia-6; ; CACNA1A
Spinocerebellar ataxia-7; ; ATXN7
Split-hand/foot malformation 6; ; WNT10B
Split-hand/foot malformation, type 4; ; TP63
Spondylocarpotarsal synostosis syndrome; ; FLNB
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like; ; SLC39A13
Spondylocostal dysostosis, autosomal recessive 2; ; MESP2
Spondylocostal dysostosis, autosomal recessive 3; ; LFNG
Spondylocostal dysostosis, autosomal recessive, 1; ; DLL3
Spondylocostal dystostosis 4, autosomal dominant; ; GDF6
Spondyloepimetaphyseal dysplasia; ; MATN3
Spondyloepimetaphyseal dysplasia, aggrecan type; ; ACAN
Spondyloepimetaphyseal dysplasia, Missouri type; ; MMP13
Spondyloepiphyseal dysplasia tarda with progressive arthropathy; ; WISP3
Spondyloepiphyseal dysplasia tarda; ; TRAPPC2
Spondyloepiphyseal dysplasia with congenital joint dislocations; ; CHST3
Spondyloepiphyseal dysplasia, Kimberley type; ; ACAN
Spondylo-megaepiphyseal-metaphyseal dysplasia; ; NKX3-2
Spondylometaepiphyseal dysplasia, short limb-hand type; ; DDR2
Spondylometaphyseal dysplasia, Kozlowski type; ; TRPV4
Spondyloperipheral dysplasia; ; COL2A1
Squamous cell carcinoma, head and neck; ; ING1
Squamous cell carcinoma, head and neck; ; TNFRSF10B
Stapes ankylosis with broad thumb and toes; ; NOG
STAR syndrome; ; FAM58A
Stargardt disease 3; ; ELOVL4
Stargardt disease 4; ; PROM1
Stargardt disease-1; ; ABCA4
Startle disease/hyperekplexia, autosomal dominant; ; GLRA1
Steatocystoma multiplex; ; KRT17
Stickler syndrome, type I; ; COL2A1
Stickler syndrome, type II; ; COL11A1
Stickler syndrome, type III; ; COL11A2
Stiff skin syndrome; ; FBN1
Stocco dos Santos X-linked mental retardation syndrome; ; SHROOM4
Stomach cancer; ; KRAS
Stomatocytosis I; ; EPB72
Striatal degeneration, autosomal dominant; ; PDE8B
Striatonigral degeneration, infantile; ; NUP62
Stuve–Wiedemann syndrome/Schwartz–Jampel type 2 syndrome; ; LIFR
Subcortical laminal heteropia, X-linked; ; DCX
Succinic semialdehyde dehydrogenase deficiency; ; ALDH5A1
; ; OXCT1
Sucrase-isomaltase deficiency, congenital; ; SI
Sudden infant death with dysgenesis of the testes syndrome; ; TSPYL1
Sulfite oxidase deficiency; ; SUOX
Supranuclear palsy, progressive atypical; ; MAPT
Supranuclear palsy, progressive; ; MAPT
Supravalvar aortic stenosis; ; ELN
Surfactant metabolism dysfunction, pulmonary, 1; ; SFTPB
Surfactant metabolism dysfunction, pulmonary, 2; ; SFTPC
Surfactant metabolism dysfunction, pulmonary, 3; ; ABCA3
Sveinsson choreoretinal atrophy; ; TEAD1
Symphalangism, proximal; ; GDF5
Symphalangism, proximal; ; NOG
Syndactyly, type III; ; GJA1
Syndactyly, type IV; ; LMBR1
Syndactyly, type V; ; HOXD13
Synostoses syndrome, multiple, 1; ; NOG
Synpolydactyly with foot anomalies; ; HOXD13
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses; ; FBLN1
Synpolydactyly, type II; ; HOXD13
Tangier disease; ; ABCA1
TARP syndrome; ; RBM10
Tarsal-carpal coalition syndrome; ; NOG
Tay–Sachs disease; ; HEXA
T-cell immunodeficiency, congenital alopecia, and nail dystrophy; ; FOXN1
Testicular microlithiasis; ; SLC34A2
Testicular tumor, sporadic; ; STK11
Tetra-amelia, autosomal recessive; ; WNT3
Tetralogy of Fallot; ; GDF1
Tetralogy of Fallot; ; JAG1
Tetralogy of Fallot; ; ZFPM2
Tetrology of Fallot; ; NKX2E
Thalassemia, alpha-; ; HBA2
Thalassemia, Hispanic gamma-delta-beta; ; LCRB
Thalassemia-beta, dominant inclusion-body; ; HBB
Thalassemias, alpha-; ; HBA1
Thalassemias, beta-; ; HBB
Thanatophoric dysplasia, type I; ; FGFR3
Thiamine-responsive megaloblastic anemia syndrome; ; SLC19A2
Three M syndrome 2; ; OBSL1
Thrombocythemia, essential; ; JAK2
Thrombocythemia, essential; ; MPL
Thrombocythemia, essential; ; THPO
Thrombocytopenia 4; ; CYCS
Thrombocytopenia with beta-thalassemia, X-linked; ; GATA1
Thrombocytopenia, congenital amegakaryocytic; ; MPL
Thrombocytopenia, X-linked; ; WAS
Thrombocytopenia, X-linked, intermittent; ; WAS
Thrombocytopenia-2; ; FLJ14813
Thrombocytopenic purpura, autoimmune; ; FCGR2C
Thrombophilia due to elevated HRG; ; HRG
Thrombophilia due to heparin cofactor II deficiency; ; HCF2
Thrombophilia due to HRG deficiency; ; HRG
Thrombophilia due to protein C deficiency, autosomal dominant; ; PROC
Thrombophilia due to protein C deficiency, autosomal recessive; ; PROC
Thrombophilia due to protein S deficiency; ; PROS1
Thrombophilia, familial, due to decreased release of PLAT; ; PLAT
Thrombophilia, X-linked, due to factor IX defect; ; F9
Thrombosis, hyperhomocysteinemic; ; CBS
Thrombotic thrombocytopenic purpura, familial; ; ADAMTS13
Thryoid dyshormonogenesis 6; ; DUOX2
Thyroid carcinoma, follicular; ; MINPP1
Thyroid carcinoma, follicular; ; NRAS
Thyroid carcinoma, papillary; ; GOLGA5
Thyroid carcinoma, papillary; ; NCOA4
Thyroid carcinoma, papillary; ; PCM1
Thyroid carcinoma, papillary; ; PRKAR1A
Thyroid carcinoma, papillary; ; TRIM24
Thyroid carcinoma, papillary; ; TRIM33
Thyroid dyshormonogenesis 1; ; SLC5A5
Thyroid dyshormonogenesis 2A; ; TPO
Thyroid dyshormonogenesis 3; ; TG
Thyroid dyshormonogenesis 4; ; IYD
Thyroid dyshormonogenesis 5; ; DUOXA2
Thyroid hormone metabolism, abnormal; ; SECISBP2
Thyroid hormone resistance; ; THRB
Thyroid hormone resistance, autosomal recessive; ; THRB
Thyroid hormone resistance, selective pituitary; ; THRB
Thyroid papillary carcinoma; ; CCDC6
Tibial muscular dystrophy, tardive; ; TTN
Tietz albinism-deafness syndrome; ; MITF
Timothy syndrome; ; CACNA1C
Tn syndrome; ; C1GALT1C1
Toenail dystrophy, isolated; ; COL7A1
Tooth agenesis, selective, 1, with or without orofacial cleft; ; MSX1
Tooth agenesis, selective, 3; ; PAX9
Tooth agenesis, selective, 6; ; LTBP3
Tooth agenesis, selective, X-linked 1; ; ED1
Torg–Winchester syndrome; ; MMP2
Tourette syndrome; ; SLITRK1
Townes–Brocks branchiootorenal-like syndrome; ; SALL1
Townes–Brocks syndrome; ; SALL1
Transaldolase deficiency; ; TALDO1
Transcobalamin II deficiency; ; TCN2
Transient bullous of the newborn; ; COL7A1
Transposition of the great arteries, dextro-looped 1; ; MED13L
Treacher Collins mandibulofacial dysostosis; ; TCOF1
Trehalase deficiency; ; TREH
Trichodentoosseous syndrome; ; DLX3
Trichoepithelioma, multiple familial, 1; ; CYLD1
Trichorhinophalangeal syndrome, type I; ; TRPS1
Trichorhinophalangeal syndrome, type III; ; TRPS1
Trichothiodystrophy; ; ERCC2
Trichothiodystrophy; ; ERCC3
Trichothiodystrophy, complementation group A; ; GTF2H5
Trichothiodystrophy, nonphotosensitive 1; ; C7orf11
Trichotillomania; ; SLITRK1
Trifunctional protein deficiency; ; HADHA
Trifunctional protein deficiency; ; HADHB
Trigonocephaly; ; FGFR1
Trimethylaminuria; ; FMO3
Triphalangeal thumb, type I; ; LMBR1
Triphalangeal thumb-polysyndactyly syndrome; ; LMBR1
Trismus-pseudocamptodactyly syndrome; ; MYH8
Tropical calcific pancreatitis; ; SPINK1
Troyer syndrome; ; SPG20
Tuberous sclerosis-1; ; TSC1
Tuberous sclerosis-2; ; TSC2
Tumoral calcinosis, familial, normophosphatemic; ; SAMD9
Tumoral calcinosis, hyperphosphatemic; ; KL
Tumoral calcinosis, hyperphosphatemic, familial; ; FGF23
Tumoral calcinosis, hyperphosphatemic, familial; ; GALNT3
Tyrosine kinase 2 deficiency; ; TYK2
Tyrosinemia type II; ; TAT
Tyrosinemia type III; ; HPD
Ullrich congenital muscular dystrophy; ; COL6A1
Ullrich congenital muscular dystrophy; ; COL6A2
Ullrich congenital muscular dystrophy; ; COL6A3
Ulna and fibula, absence of, with sever limb deficiency; ; WNT7A
Ulnar–mammary syndrome; ; TBX3
Urocanase deficiency; ; UROC1
Urofacial syndrome; ; HPSE2
Usher syndrome, type 1B; ; MYO7A
Usher syndrome, type 1C; ; USH1C
Usher syndrome, type 1D; ; CDH23
Usher syndrome, type 1D/F digenic; ; CDH23
Usher syndrome, type 1D/F digenic; ; PCDH15
Usher syndrome, type 1F; ; PCDH15
Usher syndrome, type 1G; ; SANS
Usher syndrome, type 2A; ; USH2A
Usher syndrome, type 3; ; CLRN1
Usher syndrome, type IIC; ; GPR98
Usher syndrome, type IID; ; WHRN
UV-sensitive syndrome; ; ERCC6
VACTERL association; ; HOXD13
Van Buchem disease; ; SOST
van Buchem disease, type 2; ; LRP5
van der Woude syndrome; ; IRF6
Vasculopathy, retinal, with cerebral leukodystrophy; ; TREX1
VATER association with macrocephaly and ventriculomegaly; ; PTEN
Velocardiofacial syndrome; ; TBX1
Venous malformations, multiple cutaneous and mucosal; ; TEK
Ventricular fibrillation, familial, 1; ; SCN5A
Ventricular fibrillation, paroxysmal familial, 2; ; DPP6
Ventricular tachycardia, catecholaminergic polymorphic, 1; ; RYR2
Ventricular tachycardia, catecholaminergic polymorphic, 2; ; CASQ2
Ventricular tachycardia, idiopathic; ; GNAI2
Vertical talus, congenital; ; HOXD10
Vesicoureteral reflux 2; ; ROBO2
Vitamin D-dependent rickets, type I; ; CYP27B1
Vitamin K-dependent clotting factors, combined deficiency of, 2; ; VKORC1
Vitamin K-dependent coagulation defect; ; GGCX
Vitelliform macular dystrophy, adult-onset; ; BEST1
Vitreoretinochoroidopathy; ; BEST1
VLCAD deficiency; ; ACADVL
Vohwinkel syndrome with ichthyosis; ; LOR
Vohwinkel syndrome; ; GJB2
von Hippel–Lindau disease, modification of; ; CCND1
von Hippel–Lindau syndrome; ; VHL
von Willebrand disease, autosomal dominant; ; VWF
von Willebrand disease, autosomal recessive; ; VWF
von Willebrand disease, platelet-type; ; GP1BA
Waardenburg syndrome type 1; ; PAX3
Waardenburg syndrome type 2D; ; SNAI2
Waardenburg syndrome type 2E, with or without neurologic involvement; ; SOX10
Waardenburg syndrome type 3; ; PAX3
Waardenburg syndrome type 4A; ; EDNRB
Waardenburg syndrome type 4B; ; EDN3
Waardenburg syndrome type 4C; ; SOX10
Waardenburg syndrome type IIA; ; MITF
Waardenburg syndrome/albinism, digenic; ; TYR
Waardenburg syndrome/ocular albinism, digenic; ; MITF
Wagner syndrome 1; ; VCAN
Warburg micro syndrome 1; ; RAB3GAP1
Warfarin resistance; ; VKORC1
Warfarin sensitivity; ; CYP2C9
Warsaw breakage syndrome; ; DDX11
Watson syndrome; ; NF1
Weaver syndrome; ; NSD1
Weill–Marchesani syndrome, dominant; ; FBN1
Weill–Marchesani syndrome, recessive; ; ADAMTS10
Weill–Marchesani-like syndrome; ; ADAMTS17
Weissenbacher–Zweymüller syndrome; ; COL11A2
Werner syndrome; ; RECQL2
Weyers acrodental dysostosis; ; EVC
WHIM syndrome; ; CXCR4
White sponge nevus; ; KRT13
White sponge nevus; ; KRT4
Wilms' tumor 2; ; H19
Wilms' tumor; ; BRCA2
Wilms' tumor, somatic; ; GPC3
Wilms' tumor, type 1; ; WT1
Wilson's disease; ; ATP7B
Wiskott–Aldrich syndrome; ; WAS
Witkop syndrome; ; MSX1
Wolcott–Rallison syndrome; ; EIF2AK3
Wolff–Parkinson–White syndrome; ; PRKAG2
Wolfram syndrome 2; ; CISD2
Wolfram syndrome; ; WFS1
Wolfram-like syndrome, autosomal dominant; ; WFS1
Wolman disease; ; LIPA
Woodhouse–Sakati syndrome; ; C2orf37
Woolly hair, autosomal dominant; ; KRT74
Woolly hair, autosomal recessive 1; ; P2RY5
Woolly hair, autosomal recessive 2 with or without hypotrichosis; ; LIPH
Wrinkly skin syndrome; ; ATP6V0A2
Xanthinuria, type I; ; XDH
Xeroderma pigmentosum group A; ; XPA
Xeroderma pigmentosum group B; ; ERCC3
Xeroderma pigmentosum group C; ; XPC
Xeroderma pigmentosum group D; ; ERCC2
Xeroderma pigmentosum group E, DDB-negative subtype; ; DDB2
Xeroderma pigmentosum group F; ; ERCC4
Xeroderma pigmentosum group G; ; ERCC5
Xeroderma pigmentosum, variant type; ; POLH
XFE progeroid syndrome; ; ERCC4
X-inactivation, familial skewed; ; XIC
Zellweger syndrome; ; PEX10
Zellweger syndrome; ; PEX13
Zellweger syndrome; ; PEX14
Zellweger syndrome; ; PEX26
Zellweger syndrome; ; PEX5
Zellweger syndrome; ; PXF
Zellweger syndrome, complementation group G; ; PEX3
Zellweger syndrome-1; ; PEX1