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List of OMIM disorder codes
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information.
* Isolated 17,20-lyase deficiency; ; 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
* AGAT deficiency; ; GATM
* Agenesis of the corpus callosum with peripheral neuropathy; ; SLC12A6
* Aicardi-Goutieres syndrome 1, dominant and recessive; ; TREX1
* Aicardi-Goutieres syndrome 2; ; RNASEH2B
* Aicardi-Goutieres syndrome 3; ; RNASEH2C
* Aicardi-Goutieres syndrome 4; ; RNASEH2A
* Aicardi-Goutieres 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
* Alstrom 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; ; 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-Dube syndrome; ; FLCN
* Bjornstad 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
* Borjeson-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 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
* Chediak-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 disease; ; 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 disease 2; ; OCRL
* Dent disease; ; CLCN5
* Dentatorubropallidoluysian 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 ataxia with retained reflexes; ; FXN
* Friedreich 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-Straussler disease; ; 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 disease; ; GDNF
* Hirschsprung disease; ; RET
* Hirschsprung disease, short-segment; ; PMX2B
* Histiocytoma, angiomatoid fibrous, somatic; ; CREB1
* HMG-CoA synthase-2 deficiency; ; HMGCS2
* Hodgkin 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 disease; ; HTT
* Huntington disease-like 1; ; PRNP
* Huntington disease-like 2; ; JPH3
* Huchinson-Gilford Progeria; ; 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-CoA 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 persistance/nonpersistance; ; 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
* Leri-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-Sjogren 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-Tranebjaerg 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 defects; ; 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 stationery, 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-Lefevre 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 slndrome; ; 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-Huet 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-Levy syndrome; ; MPZ
* Roussy-Levy 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
* Sjogren-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
* Succinyl-CoA:3-oxoacid CoA transferase deficiency; ; 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-Zweymuller 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 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
==External links==
* http://www.ncbi.nlm.nih.gov/Omim/omimfaq.html#download
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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