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–Goutières syndrome 1, dominant and recessive; ; TREX1
 * Aicardi–Goutières syndrome 2; ; RNASEH2B
 * Aicardi–Goutières syndrome 3; ; RNASEH2C
 * Aicardi–Goutières syndrome 4; ; RNASEH2A
 * Aicardi–Goutières syndrome 5; ; SAMHD1
 * AICA-ribosiduria due to ATIC deficiency; ; ATIC
 * Alagille syndrome 2; ; NOTCH2
 * Alagille syndrome; ; JAG1
 * Aland Island eye disease; ; CACNA1F
 * Albinism, brown oculocutaneous; ; OCA2
 * Albinism, brown; ; TYRP1
 * Albinism, oculocutaneous, type IA; ; TYR
 * Albinism, oculocutaneous, type IB; ; TYR
 * Albinism, oculocutaneous, type II; ; OCA2
 * Albinism, rufous; ; TYRP1
 * Alcohol sensitivity, acute; ; ALDH2
 * Aldosteronism, glucocorticoid-remediable; ; CYP11B1
 * Alexander disease; ; GFAP
 * Alexander disease; ; NDUFV1
 * Alkaptonuria; ; HGD
 * Allan–Herndon–Dudley syndrome; ; SLC16A2
 * Alopecia universalis; ; HR
 * Alopecia, neurologic defects, and endocrinopathy syndrome; ; RBM28
 * Alpers syndrome; ; POLG
 * Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; ; RAG1
 * Alpha-2-plasmin inhibitor deficiency; ; PLI
 * Alpha-ketoglutarate dehydrogenase deficiency; ; OGDH
 * Alpha-methylacetoacetic aciduria; ; ACAT1
 * Alpha-thalassemia myelodysplasia syndrome, somatic; ; ATRX
 * Alpha-thalassemia mental retardation syndrome; ; ATRX
 * Alport syndrome; ; COL4A5
 * Alport syndrome, autosomal recessive; ; COL4A3
 * Alport syndrome, autosomal recessive; ; COL4A4
 * Alström syndrome; ; ALMS1
 * Alternating hemiplegia of childhood; ; ATP1A2
 * Alveolar capillary dysplasia with misalignment of pulmonary veins; ; FOXF1
 * Alveolar soft part sarcoma; ; ASPSCR1
 * Alzheimer disease 1, familial; ; APP
 * Alzheimer disease 6; ; AD6
 * Alzheimer disease 8; ; AD8
 * Alzheimer disease, late-onset, susceptibility to; ; NOS3
 * Alzheimer disease, type 3; ; PSEN1
 * Alzheimer disease, type 3, with spastic paraparesis and apraxia; ; PSEN1
 * Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; ; PSEN1
 * Alzheimer disease-10; ; AD10
 * Alzheimer disease-2; ; APOE
 * Alzheimer disease-4; ; PSEN2
 * Alzheimer disease-5; ; AD5
 * Amelogenesis imperfecta, hypomaturation type, IIA3; ; WDR72
 * Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; ; DLX3
 * Amelogenesis imperfecta, hypoplastic/hypomaturation type; ; AMELX
 * Amelogenesis imperfecta, type 3; ; FAM83H
 * Amelogenesis imperfecta, type IB; ; ENAM
 * Amelogenesis imperfecta, type IC; ; ENAM
 * Amelogenesis imperfecta, type IIA1; ; KLK4
 * Amelogenesis imperfecta, type IIA2; ; MMP20
 * Aminoacylase 1 deficiency; ; ACY1
 * Amish infantile epilepsy syndrome; ; SIAT9
 * Amyloidosis, 3 or more types; ; APOA1
 * Amyloidosis, Finnish type; ; GSN
 * Amyloidosis, hereditary renal; ; FGA
 * Amyloidosis, hereditary, transthyretin-related; ; TTR
 * Amyloidosis, primary localized cutaneous; ; OSMR
 * Amyloidosis, renal; ; LYZ
 * Amyotrophic lateral sclerosis 10, with or without FTD; ; TARDBP
 * Amyotrophic lateral sclerosis 11; ; FIG4
 * Amyotrophic lateral sclerosis 4, juvenile; ; SETX
 * Amyotrophic lateral sclerosis 6, autosomal recessive; ; FUS
 * Amyotrophic lateral sclerosis 8; ; VAPB
 * Amyotrophic lateral sclerosis 9; ; ANG
 * Amyotrophic lateral sclerosis, due to SOD1 deficiency; ; SOD1
 * Amyotrophic lateral sclerosis, juvenile; ; ALS2
 * Amyotrophy, hereditary neuralgic; ; 40430
 * Amytrophic lateral sclerosis 12; ; OPTN
 * Anauxetic dysplasia; ; RMRP
 * Androgen insensitivity syndrome; ; AR
 * Androgen insensitivity, partial, with or without breast cancer; ; AR
 * Anemia, congenital dyserythropoietic, type I; ; CDAN1
 * Anemia, dyserythropoietic congenital, type II; ; SEC23B
 * Anemia, hemolytic, due to UMPH1 deficiency; ; NT5C3
 * Anemia, hemolytic, Rh-null, regulator type; ; RHAG
 * Anemia, hypochromic microcytic; ; NRAMP2
 * Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; ; GLRX5
 * Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; ; SLC25A38
 * Anemia, sideroblastic, with ataxia; ; ABCB7
 * Anemia, sideroblastic, X-linked; ; ALAS2
 * Angelman syndrome; ; MECP2
 * Angelman syndrome; ; UBE3A
 * Angelman syndrome-like; ; CDKL5
 * Angioedema, hereditary, type III; ; F12
 * Angioedema, hereditary, types I and II; ; C1NH
 * Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; ; COL4A1
 * Aniridia; ; PAX6
 * Anonychia congenita; ; RSPO4
 * Anterior segment mesenchymal dysgenesis; ; FOXE3
 * Anterior segment mesenchymal dysgenesis; ; PITX3
 * Antithrombin III deficiency; ; AT3
 * Antley–Bixler syndrome; ; FGFR2
 * Antley–Bixler syndrome-like with disordered steroidogenesis; ; POR
 * Anxiety-related personality traits; ; SLC6A4
 * Aortic aneurysm, familial thoracic 4; ; MYH11
 * Aortic aneurysm, familial thoracic 6; ; ACTA2
 * Aortic valve disease; ; NOTCH1
 * Apert syndrome; ; FGFR2
 * Aphakia, congenital primary; ; FOXE3
 * Aplasia of lacrimal and salivary glands; ; FGF10
 * Aplastic anemia; ; TERC
 * Argininemia; ; ARG1
 * Argininosuccinic aciduria; ; ASL
 * Aromatase deficiency; ; CYP19A1
 * Aromatase excess syndrome; ; CYP19A1
 * Aromatic L-amino acid decarboxylase deficiency; ; DDC
 * Arrhythmogenic right ventricular dysplasia 1; ; TGFB3
 * Arrhythmogenic right ventricular dysplasia 2; ; RYR2
 * Arrhythmogenic right ventricular dysplasia 5; ; LAMR1
 * Arrhythmogenic right ventricular dysplasia 8; ; DSP
 * Arrhythmogenic right ventricular dysplasia, familial, 10; ; DSG2
 * Arrhythmogenic right ventricular dysplasia, familial, 11; ; DSC2
 * Arrhythmogenic right ventricular dysplasia, familial, 12; ; JUP
 * Arrhythmogenic right ventricular dysplasia, familial, 5; ; TMEM43
 * Arrhythmogenic right ventricular dysplasia, familial, 9; ; PKP2
 * Arterial calcification, generalized, of infancy; ; ENPP1
 * Arterial tortuosity syndrome; ; SLC2A10
 * Arthrogryposis multiplex congenita, distal type 1; ; TPM2
 * Arthrogryposis multiplex congenita, distal type 2B; ; TNNI2
 * Arthrogryposis, distal, type 2A; ; MYH3
 * Arthrogryposis, distal, type 2B; ; MYH3
 * Arthrogryposis, distal, type 2B; ; TPM2
 * Arthrogryposis, lethal, with anterior horn cell disease; ; GLE1
 * Arthrogryposis, renal dysfunction, and cholestasis 1; ; VPS33B
 * Arthrogryposis, renal dysfunction, and cholestasis 2; ; VIPAR
 * Arthropathy, progressive pseudorheumatoid, of childhood; ; WISP3
 * Arthyrgryposis, distal, type 2B; ; TNNT3
 * Arts syndrome; ; PRPS1
 * Aspartylglucosaminuria; ; AGA
 * Asphyxiating thoracic dystrophy 2; ; IFT80
 * Asphyxiating thoracic dystrophy 3; ; DYNC2H1
 * Asthma and nasal polyps; ; TBX21
 * Ataxia with isolated vitamin E deficiency; ; TTPA
 * Ataxia, cerebellar, Cayman type; ; ATCAY
 * Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; ; APTX
 * Ataxia–ocular apraxia-2; ; SETX
 * Ataxia–telangiectasia; ; ATM
 * Ataxia–telangiectasia-like disorder; ; MRE11A
 * Atelosteogenesis II; ; SLC26A2
 * Atelosteogenesis, type III; ; FLNB
 * Atelostogenesis, type I; ; FLNB
 * Athabaskan brainstem dysgenesis syndrome; ; HOXA1
 * Atopy; ; SPINK5
 * ATP synthase deficiency, nuclear-encoded; ; ATPAF2
 * Atransferrinemia; ; TF
 * Atrial fibrillation; ; GJA5
 * Atrial fibrillation, familial, 3; ; KCNQ1
 * Atrial fibrillation, familial, 4; ; KCNE2
 * Atrial fibrillation, familial, 6; ; NPPA
 * Atrial fibrillation, familial, 7; ; KCNA5
 * Atrial septal defect 4; ; TBX20
 * Atrial septal defect 5; ; ACTC1
 * Atrial septal defect 6; ; TLL1
 * Atrial septal defect with atrioventricular conduction defects; ; NKX2E
 * Atrial septal defect-2; ; GATA4
 * Atrichia with papular lesions; ; HR
 * Atrioventricular canal defect; ; AVSD1
 * Atrioventricular septal defect; ; GJA1
 * Atrioventricular septal defect, partial, with heterotaxy syndrome; ; CRELD1
 * Auditory neuropathy, autosomal recessive, 1; ; OTOF
 * Autoimmune disease, syndromic multisystem; ; ITCH
 * Autoimmune lymphoproliferative syndrome, type IA; ; TNFRSF6
 * Autoimmune lymphoproliferative syndrome, type II; ; CASP10
 * Autoimmune lymphoproliferative syndrome, type IIB; ; CASP8
 * Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia; ; AIRE
 * Axenfeld–Rieger syndrome, type 1; ; PITX2
 * Axenfeld–Rieger syndrome, type 3; ; FOXC1
 * Azoospermia due to perturbations of meiosis; ; SYCP3
 * Azoospermia; ; USP9Y
 * Baller–Gerold syndrome; ; RECQL4
 * Bamforth–Lazarus syndrome; ; FOXE1
 * Bannayan–Riley–Ruvalcaba syndrome; ; PTEN
 * Bardet–Biedl syndrome 1; ; BBS1
 * Bardet–Biedl syndrome 10; ; BBS10
 * Bardet–Biedl syndrome 11; ; TRIM32
 * Bardet–Biedl syndrome 12; ; BBS12
 * Bardet–Biedl syndrome 13; ; MKS1
 * Bardet–Biedl syndrome 14; ; CEP290
 * Bardet–Biedl syndrome 15; ; C2orf86
 * Bardet–Biedl syndrome 2; ; BBS2
 * Bardet–Biedl syndrome 3; ; ARL6
 * Bardet–Biedl syndrome 4; ; BBS4
 * Bardet–Biedl syndrome 5; ; BBS5
 * Bardet–Biedl syndrome 6; ; MKKS
 * Bardet–Biedl syndrome 7; ; BBS7
 * Bardet–Biedl syndrome 8; ; TTC8
 * Bardet–Biedl syndrome 9; ; PTHB1
 * Bare lymphocyte syndrome, type I; ; TAP1
 * Bare lymphocyte syndrome, type I; ; TAPBP
 * Bare lymphocyte syndrome, type I, due to TAP2 deficiency; ; TAP2
 * Bare lymphocyte syndrome, type II, complementation group A; ; MHC2TA
 * Bare lymphocyte syndrome, type II, complementation group C; ; RFX5
 * Bare lymphocyte syndrome, type II, complementation group D; ; RFXAP
 * Bare lymphocyte syndrome, type II, complementation group E; ; RFX5
 * Barth syndrome; ; TAZ
 * Bart–Pumphrey syndrome; ; GJB2
 * Bartter syndrome, type 1; ; SLC12A1
 * Bartter syndrome, type 2; ; KCNJ1
 * Bartter syndrome, type 3; ; CLCNKB
 * Bartter syndrome, type 4, digenic; ; CLCNKB
 * Bartter syndrome, type 4a; ; BSND
 * Bartter syndrome, type 4b, digenic; ; CLCNKA
 * Basal cell carcinoma, somatic; ; PTCH1
 * Basal cell carcinoma, somatic; ; PTCH2
 * Basal cell carcinoma, somatic; ; RASA1
 * Basal cell nevus syndrome; ; PTCH1
 * Basal ganglia disease, biotin-responsive; ; SLC19A3
 * Basal laminar drusen; ; HF1
 * BCG and salmonella infection, disseminated; ; IL12B
 * BCG infection, generalized familial; ; IFNGR1
 * Beare–Stevenson cutis gyrata syndrome; ; FGFR2
 * Becker muscular dystrophy; ; DMD
 * Beckwith–Wiedemann syndrome; ; CDKN1C
 * Beckwith–Wiedemann syndrome; ; H19
 * Beckwith–Wiedemann syndrome; ; KCNQ10T1
 * Beckwith–Wiedemann syndrome; ; NSD1
 * Bernard–Soulier syndrome, benign autosomal dominant; ; GP1BA
 * Bernard–Soulier syndrome, type A; ; GP1BA
 * Bernard–Soulier syndrome, type B; ; GP1BB
 * Bernard–Soulier syndrome, type C; ; GP9
 * Best macular dystrophy; ; BEST1
 * Bestrophinopathy; ; BEST1
 * Beta-ureidopropionase deficiency; ; UPB1
 * Bethlem myopathy; ; COL6A1
 * Bethlem myopathy; ; COL6A2
 * Bethlem myopathy; ; COL6A3
 * Bietti crystalline corneoretinal dystrophy; ; CYP4V2
 * Bifid nose with or without anorectal and renal anomalies; ; FREM1
 * Bile acid malabsorption, primary; ; SLC10A2
 * Bile acid synthesis defect, congenital, 2; ; AKR1D1
 * Bile acid synthesis defect, congenital, 4; ; AMACR
 * Biotinidase deficiency; ; BTD
 * Birk–Barel mental retardation dysmorphism syndrome; ; KCNK9
 * Birt–Hogg–Dubé syndrome; ; FLCN
 * Björnstad syndrome; ; BCS1L
 * Bladder cancer; ; KRAS
 * Bladder cancer; ; RB1
 * Bladder cancer, somatic; ; FGFR3
 * Blau syndrome; ; NOD2
 * Bleeding disorder due to P2RY12 defect; ; P2RY12
 * Blepharophimosis, epicanthus inversus, and ptosis, type 1; ; FOXL2
 * Blepharophimosis, epicanthus inversus, and ptosis, type 2; ; FOXL2
 * Blood group--Lutheran inhibitor; ; KLF1
 * Bloom syndrome; ; RECQL3
 * Blue cone monochromacy; ; OPN1MW
 * Blue cone monochromacy; ; OPN1LW
 * Boomerang dysplasia; ; FLNB
 * Börjeson–Forssman–Lehmann syndrome; ; PHF6
 * Bosley–Salih–Alorainy syndrome; ; HOXA1
 * Bothnia retinal dystrophy; ; RLBP1
 * Bowen–Conradi syndrome; ; EMG1
 * Brachiootic syndrome 3; ; SIX1
 * Brachydactyly type A1; ; BDA1B
 * Brachydactyly type A1; ; IHH
 * Brachydactyly type A2; ; BMPR1B
 * Brachydactyly type A2; ; GDF5
 * Brachydactyly type B1; ; ROR2
 * Brachydactyly type B2; ; NOG
 * Brachydactyly type C; ; GDF5
 * Brachydactyly type D; ; HOXD13
 * Brachydactyly type E; ; HOXD13
 * Brachydactyly type E2; ; PTHLH
 * Brachydactyly-syndactyly syndrome; ; HOXD13
 * Brachyolmia type 3; ; TRPV4
 * Bradyopsia; ; RGS9
 * Bradyopsia; ; RGS9BP
 * Brain small vessel disease with Axenfeld-Rieger anomaly; ; COL4A1
 * Brain small vessel disease with hemorrhage; ; COL4A1
 * Branchiooculofacial syndrome; ; TFAP2A
 * Branchiootorenal syndrome 2; ; SIX5
 * Branchiootorenal syndrome with cataract; ; EYA1
 * Branchiootorenal syndrome; ; EYA1
 * Breast cancer; ; PPM1D
 * Breast cancer; ; SLC22A1L
 * Breast cancer; ; TP53
 * Breast cancer, early-onset; ; BRIP1
 * Breast cancer, invasive ductal; ; RAD54L
 * Breast cancer, somatic; ; AKT1
 * Breast cancer, somatic; ; KRAS
 * Breast cancer, somatic; ; PIK3CA
 * Breast cancer, somatic; ; RB1CC1
 * Brittle cornea syndrome; ; ZNF469
 * Brody myopathy; ; ATP2A1
 * Bronchiectasis with or without elevated sweat chloride 1; ; SCNN1B
 * Bronchiectasis with or without elevated sweat chloride 2; ; SCNN1A
 * Bronchiectasis with or without elevated sweat chloride 3; ; SCNN1G
 * Brooke–Spiegler syndrome; ; CYLD1
 * Brown–Vialetto–Van Laere syndrome; ; C20orf54
 * Bruck syndrome 2; ; PLOD2
 * Brugada syndrome 1; ; SCN5A
 * Brugada syndrome 2; ; GPD1L
 * Brugada syndrome 3; ; CACNA1C
 * Brugada syndrome 4; ; CACNB2
 * Brugada syndrome 5; ; SCN1B
 * Brugada syndrome 6; ; KCNE3
 * Brugada syndrome 7; ; SCN3B
 * Brugada syndrome 8; ; HCN4
 * Brunner syndrome; ; MAOA
 * Burkitt's lymphoma; ; MYC
 * Buschke–Ollendorff syndrome; ; LEMD3
 * C syndrome; ; CD96
 * C5 deficiency; ; C5
 * C6 deficiency; ; C6
 * C7 deficiency; ; C7
 * Caffey disease; ; COL1A1
 * Campomelic dysplasia with autosomal sex reversal; ; SOX9
 * Campomelic dysplasia; ; SOX9
 * Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; ; PRG4
 * Camurati–Engelmann disease; ; TGFB1
 * Canavan disease; ; ASPA
 * Candidiasis, familial chronic mucocutaneous, autosomal dominant; ; CLEC7A
 * Candidiasis, familial chronic mucocutaneous, autosomal recessive; ; CARD9
 * Capillary malformation-arteriovenous malformation; ; RASA1
 * Carbamoyl phosphate synthetase I deficiency; ; CPS1
 * Carbohydrate-deficient glycoprotein syndrome, type Ib; ; MPI
 * Carboxypeptidase N deficiency; ; CPN1
 * Carcinoid tumors, intestinal; ; SDHD
 * Cardiac arrhythmia, ankyrin-B-related; ; ANK2
 * Cardiac conduction defect, nonspecific; ; SCN1B
 * Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; ; SCO2
 * Cardiofaciocutaneous syndrome; ; BRAF
 * Cardiofaciocutaneous syndrome; ; KRAS
 * Cardiofaciocutaneous syndrome; ; MAP2K1
 * Cardiofaciocutaneous syndrome; ; MAP2K2
 * Cardiomyopathy, dilated 1C; ; LDB3
 * Cardiomyopathy, dilated; ; MYBPC3
 * Cardiomyopathy, dilated, 1A; ; LMNA
 * Cardiomyopathy, dilated, 1AA; ; ACTN2
 * Cardiomyopathy, dilated, 1BB; ; DSG2
 * Cardiomyopathy, dilated, 1CC; ; NEXN
 * Cardiomyopathy, dilated, 1D; ; TNNT2
 * Cardiomyopathy, dilated, 1DD; ; RBM20
 * Cardiomyopathy, dilated, 1E; ; SCN5A
 * Cardiomyopathy, dilated, 1EE; ; MYH6
 * Cardiomyopathy, dilated, 1FF; ; TNNI3
 * Cardiomyopathy, dilated, 1G; ; TTN
 * Cardiomyopathy, dilated, 1GG; ; SDHA
 * Cardiomyopathy, dilated, 1I; ; DES
 * Cardiomyopathy, dilated, 1J; ; EYA4
 * Cardiomyopathy, dilated, 1L; ; SGCD
 * Cardiomyopathy, dilated, 1M; ; CSRP3
 * Cardiomyopathy, dilated, 1N; ; TCAP
 * Cardiomyopathy, dilated, 1O; ; ABCC9
 * Cardiomyopathy, dilated, 1P; ; PLN
 * Cardiomyopathy, dilated, 1R; ; ACTC1
 * Cardiomyopathy, dilated, 1S; ; MYH7
 * Cardiomyopathy, dilated, 1W; ; VCL
 * Cardiomyopathy, dilated, 1X; ; FKTN
 * Cardiomyopathy, dilated, 1Y; ; TPM1
 * Cardiomyopathy, dilated, 1Z; ; TNNC1
 * Cardiomyopathy, dilated, 2A; ; TNNI3
 * Cardiomyopathy, dilated, 3A; ; TAZ
 * Cardiomyopathy, dilated, 3B; ; DMD
 * Cardiomyopathy, familial hypertrophic, 1; ; MYH7
 * Cardiomyopathy, familial hypertrophic, 10; ; MYL2
 * Cardiomyopathy, familial hypertrophic, 11; ; ACTC1
 * Cardiomyopathy, familial hypertrophic, 12; ; CSRP3
 * Cardiomyopathy, familial hypertrophic, 13; ; TNNC1
 * Cardiomyopathy, familial hypertrophic, 14; ; MYH6
 * Cardiomyopathy, familial hypertrophic, 15; ; VCL
 * Cardiomyopathy, familial hypertrophic; ; CAV3
 * Cardiomyopathy, familial hypertrophic; ; SLC25A4
 * Cardiomyopathy, familial hypertrophic, 2; ; TNNT2
 * Cardiomyopathy, familial hypertrophic, 3; ; TPM1
 * Cardiomyopathy, familial hypertrophic, 4; ; MYBPC3
 * Cardiomyopathy, familial hypertrophic, 8; ; MYL3
 * Cardiomyopathy, familial restrictive; ; TNNI3
 * Cardiomyopathy, familial restrictive, 3; ; TNNT2
 * Cardiomyopathy, hypertrophic 6, with WPW; ; PRKAG2
 * Cardiomyopathy, hypertrophic, midventricular, digenic; ; MYLK2
 * Carney complex variant; ; MYH8
 * Carney complex, type 1; ; PRKAR1A
 * Carnitine deficiency, systemic primary; ; SLC22A5
 * Carotid intimal medial thickness 1; ; PPARG
 * Carpal tunnel syndrome, familial; ; TTR
 * Carpenter syndrome; ; RAB23
 * Cartilage–hair hypoplasia; ; RMRP
 * Cataract with late-onset corneal dystrophy; ; PAX6
 * Cataract, autosomal dominant, multiple types 1; ; BFSP2
 * Cataract, cerulean, type 2; ; CRYBB2
 * Cataract, congenital nuclear, 2; ; CRYBB3
 * Cataract, congenital nuclear, autosomal recessive 3; ; CRYBB1
 * Cataract, congenital zonular, with sutural opacities; ; CRYBA1
 * Cataract, congenital; ; BFSP2
 * Cataract, congenital, cerulean type, 3; ; CRYGD
 * Cataract, congenital, X-linked; ; NHS
 * Cataract, Coppock-like; ; CRYBB2
 * Cataract, Coppock-like; ; CRYGC
 * Cataract, cortical, juvenile-onset; ; BFSP1
 * Cataract, crystalline aculeiform; ; CRYGD
 * Cataract, juvenile, with microcornea and glucosuria; ; SLC16A12
 * Cataract, juvenile-onset; ; BFSP2
 * Cataract, lamellar 2; ; CRYBA4
 * Cataract, lamellar; ; HSF4
 * Cataract, Marner type; ; HSF4
 * Cataract, nonnuclear polymorphic congenital; ; CRYGD
 * Cataract, polymorphic and lamellar; ; MIP
 * Cataract, posterior polar, 1; ; EPHA2
 * Cataract, posterior polar, 3; ; CHMP4B
 * Cataract, posterior polar, 4; ; PITX3
 * Cataract, posterior polar, 4, syndromic; ; PITX3
 * Cataract, sutural, with punctate and cerulean opacities; ; CRYBB2
 * Cataract, zonular pulverulent-1; ; GJA8
 * Cataract, zonular pulverulent-3; ; GJA3
 * Cataract-microcornea syndrome; ; GJA8
 * CATSHL syndrome; ; FGFR3
 * Caudal duplication anomaly; ; AXIN1
 * Caudal regression syndrome; ; VANGL1
 * Cavernous malformations of CNS and retina; ; CCM1
 * CD59 deficiency; ; CD59
 * CD8 deficiency, familial; ; CD8A
 * Cenani–Lenz syndactyly syndrome; ; LRP4
 * Central core disease; ; RYR1
 * Central hypoventilation syndrome; ; GDNF
 * Central hypoventilation syndrome, congenital; ; ASCL1
 * Central hypoventilation syndrome, congenital; ; BDNF
 * Central hypoventilation syndrome, congenital; ; EDN3
 * Central hypoventilation syndrome, congenital; ; PMX2B
 * Central hypoventilation syndrome, congenital; ; RET
 * Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; ; CA8
 * Cerebellar ataxia; ; CP
 * Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; ; VLDLR
 * Cerebral amyloid angiopathy; ; CST3
 * Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; ; APP
 * Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; ; NOTCH3
 * Cerebral cavernous malformations 3; ; PDCD10
 * Cerebral cavernous malformations-1; ; CCM1
 * Cerebral cavernous malformations-2; ; C7orf22
 * Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; ; SNAP29
 * Cerebral palsy, spastic quadriplegic, 3; ; AP4M1
 * Cerebral palsy, spastic quadriplegic; ; KANK1
 * Cerebral palsy, spastic, symmetric, autosomal recessive; ; GAD1
 * Cerebrocostomandibular-like syndrome; ; COG1
 * Cerebrooculofacioskeletal syndrome 1; ; ERCC6
 * Cerebrooculofacioskeletal syndrome 2; ; ERCC2
 * Cerebrooculofacioskeletal syndrome 4; ; ERCC1
 * Cerebrotendinous xanthomatosis; ; CYP27A1
 * Ceroid lipofuscinosis, neuronal 8; ; CLN8
 * Ceroid lipofuscinosis, neuronal, 10; ; CTSD
 * Ceroid lipofuscinosis, neuronal, 7; ; MFSD8
 * Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; ; CLN8
 * Ceroid lipofuscinosis, neuronal 1, infantile; ; PPT1
 * Ceroid-lipofuscinosis, neuronal 2, classic late infantile; ; TPP1
 * Ceroid lipofuscinosis, neuronal 3, juvenile; ; CLN3
 * Ceroid-lipofuscinosis, neuronal-5, variant late infantile; ; CLN5
 * Ceroid-lipofuscinosis, neuronal-6, variant late infantile; ; CLN6
 * Cervical cancer, somatic; ; FGFR3
 * Chanarin–Dorfman syndrome; ; ABHD5
 * Char syndrome; ; TFAP2B
 * Charcot–Marie–Tooth disease, axonal, type 2F; ; HSPB1
 * Charcot–Marie–Tooth disease, axonal, type 2K; ; GDAP1
 * Charcot–Marie–Tooth disease, axonal, type 2L; ; HSPB8
 * Charcot–Marie–Tooth disease, axonal, type 2M; ; DNM2
 * Charcot–Marie–Tooth disease, axonal, type 2N; ; AARS
 * Charcot–Marie–Tooth disease, axonal, with vocal cord paresis; ; GDAP1
 * Charcot–Marie–Tooth disease, dominant intermediate 3; ; MPZ
 * Charcot–Marie–Tooth disease, dominant intermediate B; ; DNM2
 * Charcot–Marie–Tooth disease, dominant intermediate C; ; YARS
 * Charcot–Marie–Tooth disease, recessive intermediate, A; ; GDAP1
 * Charcot–Marie–Tooth disease, recessive intermediate, B; ; KARS
 * Charcot–Marie–Tooth disease type 1A; ; PMP22
 * Charcot–Marie–Tooth disease type 1B; ; MPZ
 * Charcot–Marie–Tooth disease type 1C; ; LITAF
 * Charcot–Marie–Tooth disease type 1D; ; EGR2
 * Charcot–Marie–Tooth disease type 1E; ; PMP22
 * Charcot–Marie–Tooth disease type 1F; ; NEFL
 * Charcot–Marie–Tooth disease type 2A1; ; KIF1B
 * Charcot–Marie–Tooth disease type 2A2; ; MFN2
 * Charcot–Marie–Tooth disease type 2B; ; RAB7
 * Charcot–Marie–Tooth disease type 2B1; ; LMNA
 * Charcot–Marie–Tooth disease type 2B2; ; MED25
 * Charcot–Marie–Tooth disease type 2D; ; GARS
 * Charcot–Marie–Tooth disease type 2E; ; NEFL
 * Charcot–Marie–Tooth disease type 2I; ; MPZ
 * Charcot–Marie–Tooth disease type 2J; ; MPZ
 * Charcot–Marie–Tooth disease type 4A; ; GDAP1
 * Charcot–Marie–Tooth disease type 4B1; ; MTMR2
 * Charcot–Marie–Tooth disease type 4B2; ; SBF2
 * Charcot–Marie–Tooth disease type 4C; ; SH3TC2
 * Charcot–Marie–Tooth disease type 4D; ; NDRG1
 * Charcot–Marie–Tooth disease type 4F; ; PRX
 * Charcot–Marie–Tooth disease type 4H; ; FGD4
 * Charcot–Marie–Tooth disease type 4J; ; FIG4
 * Charcot–Marie–Tooth disease, X-linked recessive, 5; ; PRPS1
 * Charcot–Marie–Tooth neuropathy, X-linked dominant, 1; ; GJB1
 * CHARGE syndrome; ; CHD7
 * CHARGE syndrome; ; SEMA3E
 * Chédiak–Higashi syndrome; ; CHS1
 * Cherubism; ; SH3BP2
 * Chilblain lupus; ; TREX1
 * CHILD syndrome; ; NSDHL
 * Chloride diarrhea, congenital, Finnish type; ; SLC26A3
 * Cholestasis, benign recurrent intrahepatic, 2; ; ABCB11
 * Cholestasis, benign recurrent intrahepatic; ; ATP8B1
 * Cholestasis, familial intrahepatic, of pregnancy; ; ABCB4
 * Cholestasis, progressive familial intrahepatic 1; ; ATP8B1
 * Cholestasis, progressive familial intrahepatic 2; ; ABCB11
 * Cholestasis, progressive familial intrahepatic 3; ; ABCB4
 * Cholestasis, progressive familial intrahepatic 4; ; HSD3B7
 * Cholesteryl ester storage disease; ; LIPA
 * Chondrocalcinosis 2; ; ANKH
 * Chondrodysplasia punctata, rhizomelic, type 2; ; GNPAT
 * Chondrodysplasia punctata, X-linked dominant; ; EBP
 * Chondrodysplasia punctata, X-linked recessive; ; ARSL
 * 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 malonic and methylmalonic aciduria (CMAMMA); 614265; ACSF3
 * Combined malonic and methylmalonic aciduria (CMAMMA); 248360; MLYCD
 * Combined oxidative phosphorylation deficiency 1; ; GFM1
 * Combined oxidative phosphorylation deficiency 2; ; MRPS16
 * Combined oxidative phosphorylation deficiency 3; ; TSFM
 * Combined oxidative phosphorylation deficiency 4; ; TUFM
 * Combined oxidative phosphorylation deficiency 5; ; MRPS22
 * Combined oxidative phosphorylation deficiency 6; ; AIFM1
 * Combined SAP deficiency; ; PSAP
 * Complement component 4, partial deficiency of; ; C1NH
 * Complement factor H deficiency; ; HF1
 * Complement factor I deficiency; ; CFI
 * Complex I, mitochondrial respiratory chain, deficiency of; ; NDUFS6
 * Cone dystrophy 4; ; PDE6C
 * Cone dystrophy-3; ; GUCA1A
 * Cone–rod dystrophy 10; ; SEMA4A
 * Cone–rod dystrophy 11; ; RAXL1
 * Cone–rod dystrophy 12; ; PROM1
 * Cone–rod dystrophy 13; ; RPGRIP1
 * Cone–rod dystrophy 14; ; GUCA1A
 * Cone–rod dystrophy 15; ; CDHR1
 * Cone–rod dystrophy 3; ; ABCA4
 * Cone–rod dystrophy 5; ; PITPNM3
 * Cone–rod dystrophy; ; GUCY2D
 * Cone–rod dystrophy 7; ; RIMS1
 * Cone–rod dystrophy 9; ; ADAM9
 * Cone–rod dystrophy, X-linked, 3; ; CACNA1F
 * Cone–rod dystrophy-1; ; RPGR
 * Cone–rod retinal dystrophy-2; ; CRX
 * Congenital bilateral absence of vas deferens; ; CFTR
 * Congenital cataracts, facial dysmorphism, and neuropathy; ; CTDP1
 * Congenital disorder of glycosylation, type Ia; ; PMM2
 * Congenital disorder of glycosylation, type Ic; ; ALG6
 * Congenital disorder of glycosylation, type Id; ; ALG3
 * Congenital disorder of glycosylation, type Ie; ; DPM1
 * Congenital disorder of glycosylation, type If; ; MPDU1
 * Congenital disorder of glycosylation, type Ig; ; ALG12
 * Congenital disorder of glycosylation, type Ih; ; ALG8
 * Congenital disorder of glycosylation, type Ii; ; ALG2
 * Congenital disorder of glycosylation, type IIA; ; MGAT2
 * Congenital disorder of glycosylation, type IIb; ; GCS1
 * Congenital disorder of glycosylation type IIc; ; SLC35C1
 * Congenital disorder of glycosylation, type IId; ; B4GALT1
 * Congenital disorder of glycosylation, type IIe; ; COG7
 * Congenital disorder of glycosylation, type IIf; ; SLC35A1
 * Congenital disorder of glycosylation, type IIg; ; COG1
 * Congenital disorder of glycosylation, type IIh; ; COG8
 * Congenital disorder of glycosylation, type IIj; ; COG4
 * Congenital disorder of glycosylation, type Ij; ; DPAGT2
 * Congenital disorder of glycosylation, type Ik; ; ALG1
 * Congenital disorder of glycosylation, type Il; ; ALG9
 * Congenital disorder of glycosylation, type Im; ; TMEM15
 * Congenital disorder of glycosylation, type In; ; RFT1
 * Congenital disorder of glycosylation, type Io; ; DPM3
 * Congenital disorder of glycosylation, type Ip; ; SRD5A3
 * Congenital heart defects, nonsyndromic, 1, X-linked; ; ZIC3
 * Congenital heart disease, nonsyndromic, 2; ; TAB2
 * Conjunctivitis, ligneous; ; PLG
 * Conotruncal anomaly face syndrome; ; TBX1
 * Contractural arachnodactyly, congenital; ; FBN2
 * Convulsions, benign familial infantile, 3; ; SCN2A1
 * Convulsions, familial febrile, 4; ; GPR98
 * COPD, rate of decline of lung function in; ; MMP1
 * Coproporphyria; ; CPOX
 * Cornea plana congenita, recessive; ; KERA
 * Corneal dystrophy polymorphous posterior, 2; ; COL8A2
 * Corneal dystrophy, Avellino type; ; TGFBI
 * Corneal dystrophy, congenital stromal; ; DCN
 * Corneal dystrophy, crystalline, of Schnyder; ; UBIAD1
 * Corneal dystrophy, epithelial basement membrane; ; TGFBI
 * Corneal dystrophy, Fuchs endothelial, 1; ; COL8A2
 * Corneal dystrophy, Fuchs endothelial, 4; ; SLC4A11
 * Corneal dystrophy, Fuchs endothelial, 6; ; ZEB1
 * Corneal dystrophy, gelatinous drop-like; ; TACSTD2
 * Corneal dystrophy, Groenouw type I; ; TGFBI
 * Corneal dystrophy, hereditary polymorphous posterior; ; VSX1
 * Corneal dystrophy, lattice type I; ; TGFBI
 * Corneal dystrophy, lattice type IIIA; ; TGFBI
 * Corneal dystrophy, posterior polymorphous, 3; ; ZEB1
 * Corneal dystrophy, Reis-Bucklers type; ; TGFBI
 * Corneal dystrophy, Thiel-Behnke type; ; TGFBI
 * Corneal endothelial dystrophy 2; ; SLC4A11
 * Corneal endothelial dystrophy and perceptive deafness; ; SLC4A11
 * Corneal fleck dystrophy; ; PIKFYVE
 * Cornelia de Lange syndrome 1; ; NIPBL
 * Cornelia de Lange syndrome 2; ; DXS423E
 * Cornelia de Lange syndrome 3; ; CSPG6
 * Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; ; IGBP1
 * Corpus callosum, partial agenesis of; ; L1CAM
 * Cortical dysplasia-focal epilepsy syndrome; ; CNTNAP2
 * Corticosteroid-binding globulin deficiency; ; CBG
 * Cortisone reductase deficiency; ; H6PD
 * Cortisone reductase deficiency; ; HSD11B1
 * Costello syndrome; ; HRAS
 * Coumarin resistance; ; CYP2A6
 * Cousin syndrome; ; TBX15
 * Cowden syndrome; ; PTEN
 * Cowden-like syndrome; ; SDHB
 * Cowden-like syndrome; ; SDHD
 * CPT deficiency, hepatic, type IA; ; CPT1A
 * CPT deficiency, hepatic, type II; ; CPT2
 * CPT II deficiency, lethal neonatal; ; CPT2
 * Cranioectodermal dysplasia; ; IFT122
 * Craniofacial-deafness-hand syndrome; ; PAX3
 * Craniofrontonasal dysplasia; ; EFNB1
 * Cranio-lenticulo-sutural dysplasia; ; SEC23A
 * Craniometaphyseal dysplasia; ; ANKH
 * Cranioosteoarthropathy; ; HPGD
 * Craniosynostosis, type 1; ; TWIST1
 * Craniosynostosis, type 2; ; MSX2
 * CRASH syndrome; ; L1CAM
 * Creatine deficiency syndrome, X-linked; ; SLC6A8
 * Creatine phosphokinase, elevated serum; ; CAV3
 * Creutzfeldt–Jakob disease; ; PRNP
 * Crigler–Najjar syndrome type I; ; UGT1A1
 * Crigler–Najjar syndrome type II; ; UGT1A1
 * Crisponi syndrome; ; CRLF1
 * Crouzon syndrome with acanthosis nigricans; ; FGFR3
 * Crouzon syndrome; ; FGFR2
 * Cryptorchidism, bilateral; ; LGR8
 * Cryptorchidism, idiopathic; ; INSL3
 * Currarino syndrome; ; MNX1
 * Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; ; LTBP4
 * Cutis laxa, AD; ; ELN
 * Cutis laxa, autosomal dominant; ; FBLN5
 * Cutis laxa, autosomal recessive; ; FBLN5
 * Cutis laxa, autosomal recessive, type I; ; EFEMP2
 * Cutis laxa, autosomal recessive, type II; ; ATP6V0A2
 * Cutis laxa, autosomal recessive, type IIB; ; PYCR1
 * Cutis laxa, recessive, type I; ; LOX
 * Cylindromatosis, familial; ; CYLD1
 * Cystathioninuria; ; CTH
 * Cystic fibrosis; ; CFTR
 * Cystinosis, late-onset juvenile or adolescent nephropathic; ; CTNS
 * Cystinosis, nephropathic; ; CTNS
 * Cystinosis, ocular nonnephropathic; ; CTNS
 * Cystinuria; ; SLC3A1
 * Cystinuria; ; SLC7A9
 * Cytochrome C oxidase deficiency; ; COX6B1
 * D-2-hydroxyglutaric aciduria; ; D2HGDH
 * Dandy–Walker malformation; ; ZIC1
 * Dandy–Walker malformation; ; ZIC4
 * Darier disease; ; ATP2A2
 * Darsun syndrome; ; G6PC3
 * D-bifunctional protein deficiency; ; HSD17B4
 * De la Chapelle dysplasia; ; SLC26A2
 * De Sanctis–Cacchione syndrome; ; ERCC6
 * Deafness, autosomal dominant 1; ; DIAPH1
 * Deafness, autosomal dominant 10; ; EYA4
 * Deafness, autosomal dominant 11, neurosensory; ; MYO7A
 * Deafness, autosomal dominant 13; ; COL11A2
 * Deafness, autosomal dominant 15; ; POU4F3
 * Deafness, autosomal dominant 17; ; MYH9
 * Deafness, autosomal dominant 20/26; ; ACTG1
 * Deafness, autosomal dominant 22; ; MYO6
 * Deafness, autosomal dominant 23; ; SIX1
 * Deafness, autosomal dominant 25; ; SLC17A8
 * Deafness, autosomal dominant 28; ; GRHL2
 * Deafness, autosomal dominant 2A; ; KCNQ4
 * Deafness, autosomal dominant 2B; ; GJB3
 * Deafness, autosomal dominant 36; ; TMC1
 * Deafness, autosomal dominant 36, with dentinogenesis; ; DSPP
 * Deafness, autosomal dominant 3A; ; GJB2
 * Deafness, autosomal dominant 3B; ; GJB6
 * Deafness, autosomal dominant 4; ; MYH14
 * Deafness, autosomal dominant 44; ; CCDC50
 * Deafness, autosomal dominant 48; ; MYO1A
 * Deafness, autosomal dominant 5; ; DFNA5
 * Deafness, autosomal dominant 50; ; MIR96
 * Deafness, autosomal dominant 8/12; ; TECTA
 * Deafness, autosomal dominant 9; ; COCH
 * Deafness, autosomal recessive 10, congenital; ; TMPRSS3
 * Deafness, autosomal recessive 12; ; CDH23
 * Deafness, autosomal recessive 16; ; STRC
 * Deafness, autosomal recessive 18; ; USH1C
 * Deafness, autosomal recessive 1A; ; GJB2
 * Deafness, autosomal recessive 1B; ; GJB6
 * Deafness, autosomal recessive 2, neurosensory; ; MYO7A
 * Deafness, autosomal recessive 21; ; TECTA
 * Deafness, autosomal recessive 22; ; OTOA
 * Deafness, autosomal recessive 23; ; PCDH15
 * Deafness, autosomal recessive 25; ; GRXCR1
 * Deafness, autosomal recessive 28; ; TRIOBP
 * Deafness, autosomal recessive 3; ; MYO15A
 * Deafness, autosomal recessive 30; ; MYO3A
 * Deafness, autosomal recessive 31; ; WHRN
 * Deafness, autosomal recessive 35; ; ESRRB
 * Deafness, autosomal recessive 36; ; ESPN
 * Deafness, autosomal recessive 37; ; MYO6
 * Deafness, autosomal recessive 39; ; HGF
 * Deafness, autosomal recessive 49; ; MARVELD2
 * Deafness, autosomal recessive 53; ; COL11A2
 * Deafness, autosomal recessive 59; ; PJVK
 * Deafness, autosomal recessive 6; ; TMIE
 * Deafness, autosomal recessive 63; ; LRTOMT
 * Deafness, autosomal recessive 67; ; LHFPL5
 * Deafness, autosomal recessive 7; ; TMC1
 * Deafness, autosomal recessive 77; ; LOXHD1
 * Deafness, autosomal recessive 79; ; TPRN
 * Deafness, autosomal recessive 8, childhood onset; ; TMPRSS3
 * Deafness, autosomal recessive 84; ; PTPRQ
 * Deafness, autosomal recessive 9; ; OTOF
 * Deafness, autosomal recessive 91; ; SERPINB6
 * Deafness, autosomal recessive, 24; ; RDX
 * Deafness, congenital with inner ear agenesis, microtia, and microdontia; ; FGF3
 * Deafness, digenic GJB2/GJB6; ; GJB6
 * Deafness, digenic, GJB2/GJB3; ; GJB3
 * Deafness, sensorineural, with hypertrophic cardiomyopathy; ; MYO6
 * Deafness, X-linked 1; ; PRPS1
 * Deafness, X-linked 2; ; POU3F4
 * Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema; ; PIEZO1
 * Dejerine–Sottas disease; ; PMP22
 * Dejerine–Sottas neuropathy; ; EGR2
 * Dejerine–Sottas neuropathy, autosomal recessive; ; PRX
 * Dejerine–Sottas syndrome; ; MPZ
 * Dementia, familial British; ; ITM2B
 * Dementia, familial Danish; ; ITM2B
 * Dementia, familial, nonspecific; ; CHMP2B
 * Dementia, frontotemporal; ; PSEN1
 * Dementia, frontotemporal, with or without parkinsonism; ; MAPT
 * Dementia, Lewy body; ; SNCA
 * Dementia, Lewy body; ; SNCB
 * Dent's disease 2; ; OCRL
 * Dent's disease; ; CLCN5
 * Dentatorubr–pallidoluysian atrophy; ; ATN1
 * Dentin dysplasia, type II; ; DSPP
 * Dentinogenesis imperfecta, Shields type II; ; DSPP
 * Dentinogenesis imperfecta, Shields type III; ; DSPP
 * Denys–Drash syndrome; ; WT1
 * Dermatopathia pigmentosa reticularis; ; KRT14
 * Desbuquois dysplasia; ; CANT1
 * Desmoid disease, hereditary; ; APC
 * Desmosterolosis; ; DHCR24
 * Diabetes insipidus, nephrogenic; ; AQP2
 * Diabetes insipidus, nephrogenic; ; AVPR2
 * Diabetes insipidus, neurohypophyseal; ; AVP
 * Diabetes mellitus, gestational; ; GCK
 * Diabetes mellitus, insulin-dependent, 2; ; INS
 * Diabetes mellitus, insulin-dependent, 20; ; HNF1A
 * Diabetes mellitus, insulin-resistant, with acanthosis nigricans; ; INSR
 * Diabetes mellitus, ketosis-prone; ; PAX4
 * Diabetes mellitus, neonatal, with congenital hypothyroidism; ; GLIS3
 * Diabetes mellitus, noninsulin-dependent; ; ABCC8
 * Diabetes mellitus, noninsulin-dependent; ; HNF1B
 * Diabetes mellitus, noninsulin-dependent, late onset; ; GCK
 * Diabetes mellitus, permanent neonatal; ; ABCC8
 * Diabetes mellitus, permanent neonatal; ; GCK
 * Diabetes mellitus, permanent neonatal; ; INS
 * Diabetes mellitus, permanent neonatal, with cerebellar agenesis; ; PTF1A
 * Diabetes mellitus, permanent neonatal, with neurologic features; ; KCNJ11
 * Diabetes mellitus, transient neonatal 2; ; ABCC8
 * Diabetes mellitus, transient neonatal, 1; ; ZFP57
 * Diabetes mellitus, transient neonatal, 3; ; KCNJ11
 * Diabetes mellitus, type 1; ; INS
 * Diabetes mellitus, type 2; ; PAX4
 * Diabetes mellitus type II; ; AKT2
 * Diabetes, permanent neonatal; ; KCNJ11
 * Diamond–Blackfan anemia 1; ; RPS19
 * Diamond–Blackfan anemia 10; ; RPS26
 * Diamond-Blackfan anemia 4; ; RPS17
 * Diamond–Blackfan anemia 5; ; RPL35A
 * Diamond–Blackfan anemia 6; ; RPL5
 * Diamond–Blackfan anemia 7; ; RPL11
 * Diamond–Blackfan anemia 8; ; RPS7
 * Diamond–Blackfan anemia 9; ; RPS10
 * Diamond–Blackfan anemia; ; RPS24
 * Diaphragmatic hernia 3; ; ZFPM2
 * Diarrhea 3, secretory sodium, congenital, syndromic; ; SPINT2
 * Diarrhea 4, malabsorptive, congenital; ; NEUROG3
 * Diarrhea 5, with tufting enteropathy, congenital; ; EPCAM
 * Diastrophic dysplasia; ; SLC26A2
 * Diastrophic dysplasia, broad bone-platyspondylic variant; ; SLC26A2
 * Dicarboxylic aminoaciduria; ; SLC1A1
 * DiGeorge syndrome; ; TBX1
 * Digital clubbing, isolated congenital; ; HPGD
 * Dihydropyrimidine dehydrogenase deficiency; ; DPYD
 * Dihydropyrimidinuria; ; DPYS
 * Dilated cardiomyopathy with woolly hair and keratoderma; ; DSP
 * Dimethylglycine dehydrogenase deficiency; ; DMGDH
 * Disordered steroidogenesis, isolated; ; POR
 * Donnai–Barrow syndrome; ; LRP2
 * Dopamine beta-hydroxylase deficiency; ; DBH
 * Dosage-sensitive sex reversal; ; DAX1
 * Double outlet right ventricle; ; CFC1
 * Double outlet right ventricle; ; GDF1
 * Dowling–Degos disease; ; KRT5
 * Doyne honeycomb degeneration of retina; ; EFEMP1
 * Dravet syndrome; ; SCN1A
 * Duane retraction syndrome 2; ; CHN1
 * Duane-radial ray syndrome; ; SALL4
 * Dubin–Johnson syndrome; ; ABCC2
 * Duchenne muscular dystrophy; ; DMD
 * Dyggve–Melchior–Clausen disease; ; DYM
 * Dysautonomia, familial; ; IKBKAP
 * Dyschromatosis symmetrica hereditaria; ; ADAR
 * Dyserythropoietic anemia with thrombocytopenia; ; GATA1
 * Dyskeratosis congenita; ; TERT
 * Dyskeratosis congenita; ; NOLA2
 * Dyskeratosis congenita, autosomal dominant; ; TERC
 * Dyskeratosis congenita, autosomal dominant; ; TINF2
 * Dyskeratosis congenita, autosomal recessive; ; NOLA3
 * Dyskeratosis congenita-1; ; DKC1
 * Dyssegmental dysplasia, Silverman-Handmaker type; ; HSPG2
 * Dystonia 16; ; PRKRA
 * Dystonia 6, torsion; ; THAP1
 * Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; ; SPR
 * Dystonia, DOPA-responsive, with or without hyperphenylalainemia; ; GCH1
 * Dystonia, juvenile-onset; ; ACTB
 * Dystonia, myoclonic; ; DRD2
 * Dystonia-1, torsion; ; DYT1
 * Dystonia-11, myoclonic; ; SGCE
 * Dystonia-12; ; ATP1A3
 * Dystonia-parkinsonism, adult-onset; ; PLA2G6
 * Dystonia-Parkinsonism, X-linked; ; TAF1
 * EBD inversa; ; COL7A1
 * EBD, Bart type; ; COL7A1
 * Ectodermal dysplasia, anhidrotic, autosomal dominant; ; EDARADD
 * Ectodermal dysplasia, anhidrotic, autosomal recessive; ; EDARADD
 * Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency; ; NFKBIA
 * Ectodermal dysplasia, anhidrotic, X-linked; ; ED1
 * Ectodermal dysplasia, ectrodactyly, and macular dystrophy; ; CDH3
 * Ectodermal dysplasia, hidrotic; ; GJB6
 * Ectodermal dysplasia, hypohidrotic, autosomal dominant; ; EDAR
 * Ectodermal dysplasia, hypohidrotic, autosomal recessive; ; EDAR
 * Ectodermal dysplasia, hypohidrotic, with immune deficiency; ; IKBKG
 * Ectodermal dysplasia, 'pure' hair-nail type; ; KRT85
 * Ectodermal dysplasia-skin fragility syndrome; ; PKP1
 * Ectodermal dysplasia-syndactyly syndrome 1; ; PVRL4
 * Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency; ; IKBKG
 * Ectopia lentis, familial; ; FBN1
 * Ectopia lentis, isolated, autosomal recessive; ; ADAMTSL4
 * Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; ; TP63
 * Ehlers–Danlos due to tenascin X deficiency; ; TNXB
 * Ehlers–Danlos syndrome, cardiac valvular form; ; COL1A2
 * Ehlers–Danlos syndrome, hypermobility type; ; TNXB
 * Ehlers-Danlos syndrome, musculocontractural type; ; CHST14
 * Ehlers–Danlos syndrome, progeroid form; ; B4GALT7
 * Ehlers–Danlos syndrome, type I; ; COL1A1
 * Ehlers–Danlos syndrome, type I; ; COL5A1
 * Ehlers–Danlos syndrome, type I; ; COL5A2
 * Ehlers–Danlos syndrome, type II; ; COL5A1
 * Ehlers–Danlos syndrome, type III; ; COL3A1
 * Ehlers–Danlos syndrome, type IV; ; COL3A1
 * Ehlers–Danlos syndrome, type VI; ; PLOD
 * Ehlers–Danlos syndrome, type VIIA; ; COL1A1
 * Ehlers–Danlos syndrome, type VIIB; ; COL1A2
 * Ehlers–Danlos syndrome, type VIIC; ; ADAMTS2
 * Eiken syndrome; ; PTHR1
 * Elliptocytosis-1; ; EPB41
 * Elliptocytosis-2; ; SPTA1
 * Ellis–van Creveld syndrome; ; EVC
 * Ellis–van Creveld syndrome; ; LBN
 * Emery–Dreifuss muscular dystrophy 4; ; SYNE1
 * Emery–Dreifuss muscular dystrophy 5; ; SYNE2
 * Emery–Dreifuss muscular dystrophy 6; ; FHL1
 * Emery–Dreifuss muscular dystrophy; ; EMD
 * Emery–Dreifuss muscular dystrophy, AD; ; LMNA
 * Emery–Dreifuss muscular dystrophy, AR; ; LMNA
 * Emphysema due to AAT deficiency; ; SERPINA1
 * Emphysema-cirrhosis, due to AAT deficiency; ; SERPINA1
 * Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency; ; TMEM70
 * Encephalopathy, familial, with neuroserpin inclusion bodies; ; SERPINI1
 * Encephalopathy, neonatal severe; ; MECP2
 * Endocrine-cerebroosteodysplasia; ; ICK
 * Endometrial cancer; ; MLH3
 * Endometrial cancer, familial; ; MSH6
 * Endplate acetylcholinesterase deficiency; ; COLQ
 * Enhanced S-cone syndrome; ; NR2E3
 * Enlarged vestibular aqueduct; ; FOXI1
 * Enlarged vestibular aqueduct; ; SLC26A4
 * Enterokinase deficiency; ; PRSS7
 * Eosinophil peroxidase deficiency; ; EPX
 * Epidermodysplasia verruciformis; ; TMC6
 * Epidermodysplasia verruciformis; ; TMC8
 * Epidermolysis bullosa dystrophica, AD; ; COL7A1
 * Epidermolysis bullosa dystrophica, AR; ; COL7A1
 * Epidermolysis bullosa of hands and feet; ; ITGB4
 * Epidermolysis bullosa pruriginosa; ; COL7A1
 * Epidermolysis bullosa simplex with migratory circinate erythema; ; KRT5
 * Epidermolysis bullosa simplex with mottled pigmentation; ; KRT5
 * Epidermolysis bullosa simplex with pyloric atresia; ; PLEC1
 * Epidermolysis bullosa simplex, Dowling-Meara type; ; KRT14
 * Epidermolysis bullosa simplex, Dowling-Meara type; ; KRT5
 * Epidermolysis bullosa simplex, Koebner type; ; KRT14
 * Epidermolysis bullosa simplex, Koebner type; ; KRT5
 * Epidermolysis bullosa simplex, Ogna type; ; PLEC1
 * Epidermolysis bullosa simplex, recessive; ; KRT14
 * Epidermolysis bullosa simplex, Weber-Cockayne type; ; KRT14
 * Epidermolysis bullosa simplex, Weber-Cockayne type; ; KRT5
 * Epidermolysis bullosa, generalized atrophic benign; ; LAMA3
 * Epidermolysis bullosa, junctional, Herlitz type; ; LAMA3
 * Epidermolysis bullosa, junctional, Herlitz type; ; LAMB3
 * Epidermolysis bullosa, junctional, Herlitz type; ; LAMC2
 * Epidermolysis bullosa, junctional, non-Herlitz type; ; COL17A1
 * Epidermolysis bullosa, junctional, non-Herlitz type; ; ITGB4
 * Epidermolysis bullosa, junctional, non-Herlitz type; ; LAMB3
 * Epidermolysis bullosa, junctional, non-Herlitz type; ; LAMC2
 * Epidermolysis bullosa, junctional, with pyloric atresia; ; ITGB4
 * Epidermolysis bullosa, junctional, with pyloric stenosis; ; ITGA6
 * Epidermolysis bullosa, lethal acantholytic; ; DSP
 * Epidermolysis bullosa, pretibial; ; COL7A1
 * Epidermolytic hyperkeratosis; ; KRT1
 * Epidermolytic hyperkeratosis; ; KRT10
 * Epidermolytic palmoplantar keratoderma; ; KRT9
 * Epilepsy, benign neonatal, type 2; ; KCNQ3
 * Epilepsy, benign, neonatal, type 1; ; KCNQ2
 * Epilepsy, female-restricted, with mental retardation; ; PCDH19
 * Epilepsy, generalized, with febrile seizures plus, type 2; ; SCN1A
 * Epilepsy, generalized, with febrile seizures plus, type 3; ; GABRG2
 * Epilepsy, juvenile myoclonic, susceptibility to; ; GABRD
 * Epilepsy, myoclonic, Lafora type; ; EPM2A
 * Epilepsy, myoclonic, Lafora type; ; NHLRC1
 * Epilepsy, myoclonic, with mental retardation and spasticity; ; ARX
 * Epilepsy, neonatal myoclonic, with suppression-burst pattern; ; SLC25A22
 * Epilepsy, nocturnal frontal lobe, 1; ; CHRNA4
 * Epilepsy, nocturnal frontal lobe, 3; ; CHRNB2
 * Epilepsy, nocturnal frontal lobe, type 4; ; CHRNA2
 * Epilepsy, partial, with auditory features; ; LGI1
 * Epilepsy, progressive myoclonic 1; ; CSTB
 * Epilepsy, progressive myoclonic 1B; ; PRICKLE1
 * Epilepsy, progressive myoclonic 2B; ; NHLRC1
 * Epilepsy, progressive myoclonic 3; ; KCTD7
 * Epilepsy, pyridoxine-dependent; ; ALDH7A1
 * Epilepsy, severe myoclonic, of infancy; ; SCN1A
 * Epilepsy, X-linked, with variable learning disabilities and behavior disorders; ; SYN1
 * Epileptic encephalopathy, early infantile, 1; ; ARX
 * Epileptic encephalopathy, early infantile, 2; ; CDKL5
 * Epileptic encephalopathy, early infantile, 4; ; STXBP1
 * Epileptic encephalopathy, early infantile, 5; ; SPTAN1
 * Epileptic encephalopathy, Lennox-Gastaut type; ; MAPK10
 * Epiphyseal dysplasia, multiple 1; ; COMP
 * Epiphyseal dysplasia, multiple, 2; ; COL9A2
 * Epiphyseal dysplasia, multiple, 3; ; COL9A3
 * Epiphyseal dysplasia, multiple, 4; ; SLC26A2
 * Epiphyseal dysplasia, multiple, 5; ; MATN3
 * Epiphyseal dysplasia, multiple, with myopia and deafness; ; COL2A1
 * Episodic ataxia, type 2; ; CACNA1A
 * Episodic ataxia, type 6; ; SLC1A3
 * Episodic ataxia/myokymia syndrome; ; KCNA1
 * Epstein syndrome; ; MYH9
 * Erythermalgia, primary; ; SCN9A
 * Erythrocyte lactate transporter defect; ; SLC16A1
 * Erythrocytosis, familial, 3; ; EGLN1
 * Erythrocytosis, familial, 4; ; EPAS1
 * Erythrokeratodermia variabilis et progressiva; ; GJB3
 * Erythrokeratodermia variabilis with erythema gyratum repens; ; GJB4
 * Escobar syndrome; ; CHRNG
 * Esophageal cancer; ; DLEC1
 * Esophageal cancer, somatic; ; TGFBR2
 * Esophageal carcinoma, somatic; ; RNF6
 * Esophageal squamous cell carcinoma; ; 40513
 * Esophageal squamous cell carcinoma; ; LZTS1
 * Esophageal squamous cell carcinoma; ; WWOX
 * Ethylmalonic encephalopathy; ; ETHE1
 * Ewing sarcoma; ; EWSR1
 * Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; ; COX4I2
 * Exostoses, multiple, type 1; ; EXT1
 * Exostoses, multiple, type 2; ; EXT2
 * Exudative vitreoretinopathy 4; ; LRP5
 * Exudative vitreoretinopathy 5; ; TSPAN12
 * Exudative vitreoretinopathy; ; FZD4
 * Exudative vitreoretinopathy, X-linked; ; NDP
 * Fabry disease; ; GLA
 * Fabry disease, cardiac variant; ; GLA
 * Factor V and factor VIII, combined deficiency of; ; MCFD2
 * Factor V deficiency; ; F5
 * Factor XI deficiency, autosomal dominant; ; F11
 * Factor XI deficiency, autosomal recessive; ; F11
 * Factor XII deficiency; ; F12
 * Factor XIIIA deficiency; ; F13A1
 * Factor XIIIB deficiency; ; F13B
 * Failure of tooth eruption, primary; ; PTHR1
 * Familial cold autoinflammatory syndrome 2; ; NALP12
 * Familial Mediterranean fever, AD; ; MEFV
 * Familial Mediterranean fever, AR; ; MEFV
 * Fanconi anemia, complementation group 0; ; RAD51C
 * Fanconi anemia, complementation group A; ; FANCA
 * Fanconi anemia, complementation group B; ; FAAP95
 * Fanconi anemia, complementation group D1; ; BRCA2
 * Fanconi anemia, complementation group I; ; FANCI
 * Fanconi anemia, complementation group J; ; BRIP1
 * Fanconi anemia, complementation group N; ; PALB2
 * Fanconi renotubular syndrome 2; ; SLC34A1
 * Fanconi–Bickel syndrome; ; SLC2A2
 * Farber lipogranulomatosis; ; ASAH1
 * Fatty liver, acute, of pregnancy; ; HADHA
 * Febrile convulsions, familial, 3A; ; SCN1A
 * Febrile convulsions, familial, 3B; ; SCN9A
 * Febrilel, convulsions, familial; ; GABRG2
 * Fechtner syndrome; ; MYH9
 * Feingold syndrome; ; MYCN
 * Fertile eunuch syndrome; ; GNRHR
 * Fetal akinesia deformation sequence; ; DOK7
 * Fetal akinesia deformation sequence; ; RAPSN
 * Fetal hemoglobin quantitative trait locus 1; ; HBG1
 * Fetal hemoglobin quantitative trait locus 1; ; HBG2
 * FG syndrome 2; ; FLNA
 * FG syndrome 4; ; CASK
 * Fibrodysplasia ossificans progressiva; ; ACVR1
 * Fibromatosis, gingival; ; SOS1
 * Fibromatosis, gingival, 2; ; GINGF2
 * Fibromatosis, juvenile hyaline; ; ANTXR2
 * Fibrosis of extraocular muscles, congenital, 1; ; KIF21A
 * Fibrosis of extraocular muscles, congenital, 2; ; PHOX2A
 * Fibrosis of extraocular muscles, congenital, 3A; ; TUBB3
 * Fibrosis of extraocular muscles, congenital, 3B; ; KIF21A
 * Fibular hypoplasia and complex brachydactyly; ; GDF5
 * Fish-eye disease; ; LCAT
 * Fletcher factor deficiency; ; KLKB1
 * Focal cortical dysplasia, Taylor balloon cell type; ; TSC1
 * Focal dermal hypoplasia; ; PORCN
 * Folate malabsorption, hereditary; ; SLC46A1
 * Follicle-stimulating hormone deficiency, isolated; ; FSHB
 * Foveal hyperplasia; ; PAX6
 * Foveomacular dystrophy, adult-onset, with choroidal neovascularization; ; PRPH2
 * Fragile X syndrome; ; FMR1
 * Fragile X tremor/ataxia syndrome; ; FMR1
 * Frank–ter Haar syndrome; ; SH3PXD2B
 * Fraser syndrome; ; FRAS1
 * Fraser syndrome; ; FREM2
 * Frasier syndrome; ; WT1
 * Friedreich's ataxia with retained reflexes; ; FXN
 * Friedreich's ataxia; ; FXN
 * Frontometaphyseal dysplasia; ; FLNA
 * Frontonasal dysplasia 2; ; ALX4
 * Frontonasal dysplasia 3; ; ALX1
 * Frontorhiny; ; ALX3
 * Frontotemporal lobar degeneration with ubiquitin-positive inclusions; ; GRN
 * Frontotemporal lobar degeneration, TARDBP-related; ; TARDBP
 * Fructose intolerance; ; ALDOB
 * Fructose-1,6-bisphosphatase deficiency; ; FBP1
 * Fucosidosis; ; FUCA1
 * Fuhrmann syndrome; ; WNT7A
 * Fumarase deficiency; ; FH
 * Fundus albipunctatus; ; RDH5
 * Fundus albipunctatus; ; RLBP1
 * Fundus flavimaculatus; ; ABCA4
 * GABA-transaminase deficiency; ; ABAT
 * Galactokinase deficiency with cataracts; ; GALK1
 * Galactose epimerase deficiency; ; GALE
 * Galactosemia; ; GALT
 * Galactosialidosis; ; CTSA
 * Gallbladder disease 1; ; ABCB4
 * Gallbladder disease 4; ; ABCG8
 * GAMT deficiency; ; GAMT
 * Gastric cancer, familial diffuse; ; CDH1
 * Gastric cancer, somatic; ; APC
 * Gastric cancer, somatic; ; CASP10
 * Gastric cancer, somatic; ; ERBB2
 * Gastric cancer, somatic; ; FGFR2
 * Gastric cancer, somatic; ; IRF1
 * Gastric cancer, somatic; ; KLF6
 * Gastric cancer, somatic; ; MUTYH
 * Gastric cancer, somatic; ; PIK3CA
 * Gastrointestinal stromal tumor, somatic; ; KIT
 * Gastrointestinal stromal tumor, somatic; ; PDGFRA
 * Gaucher disease, atypical; ; PSAP
 * Gaucher disease, perinatal lethal; ; GBA
 * Gaucher disease, type; ; GBA
 * Gaucher disease, type II; ; GBA
 * Gaucher disease, type III; ; GBA
 * Gaucher disease, type IIIC; ; GBA
 * Gaze palsy, horizontal, with progressive scoliosis; ; ROBO3
 * Geleophysic dysplasia; ; ADAMTSL2
 * Generalized epilepsy and paroxysmal dyskinesia; ; KCNMA1
 * Generalized epilepsy with febrile seizures plus; ; SCN1B
 * Germ cell tumors; ; KIT
 * Geroderma osteodysplasticum; ; SCYL1BP1
 * Gerstmann–Sträussler–Scheinker syndrome; ; PRNP
 * Ghosal syndrome; ; TBXAS1
 * Giant axonal neuropathy-1; ; GAN
 * Gillespie syndrome; ; PAX6
 * Gitelman syndrome; ; SLC12A3
 * Glanzmann thrombasthenia, type A; ; ITGA2B
 * Glaucoma 1, open angle, 1O; ; NTF4
 * Glaucoma 1, open angle, E; ; OPTN
 * Glaucoma 1, open angle, G; ; WDR36
 * Glaucoma 1A, primary open angle, juvenile-onset; ; MYOC
 * Glaucoma 1B, primary open angle, adult onset; ; GLC1B
 * Glaucoma 3, primary congenital, D; ; LTBP2
 * Glaucoma 3A, primary congenital; ; CYP1B1
 * Glaucoma, primary open angle, adult-onset; ; CYP1B1
 * Glaucoma, primary open angle, juvenile-onset; ; CYP1B1
 * Glioblastoma, somatic; ; ERBB2
 * Globozoospermia; ; GOPC
 * Globozoospermia; ; SPATA16
 * Glomerulocystic kidney disease with hyperuricemia and isosthenuria; ; UMOD
 * Glomerulopathy with fibronectin deposits 2; ; FN1
 * Glomerulosclerosis, focal segmental, 1; ; ACTN4
 * Glomerulosclerosis, focal segmental, 2; ; TRPC6
 * Glomerulosclerosis, focal segmental, 3; ; CD2AP
 * Glomerulosclerosis, focal segmental, 5; ; INF2
 * Glomuvenous malformations; ; GLML
 * Glucocorticoid deficiency 2; ; MRAP
 * Glucocorticoid deficiency, due to ACTH unresponsiveness; ; MC2R
 * Glucose-galactose malabsorption; ; SLC5A1
 * GLUT1 deficiency syndrome 1; ; SLC2A1
 * GLUT1 deficiency syndrome 2; ; SLC2A1
 * Glutamate formiminotransferase deficiency; ; FTCD
 * Glutamine deficiency, congenital; ; GLUL
 * Glutaricaciduria, type I; ; GCDH
 * Glutaricaciduria, type IIA; ; ETFA
 * Glutaricaciduria, type IIB; ; ETFB
 * Glutaricaciduria, type IIC; ; ETFDH
 * Glutathione synthetase deficiency; ; GSS
 * Glycerol kinase deficiency; ; GK
 * Glycine encephalopathy; ; AMT
 * Glycine encephalopathy; ; GCSH
 * Glycine encephalopathy; ; GLDC
 * Glycine N-methyltransferase deficiency; ; GNMT
 * Glycogen storage disease 0, muscle; ; GYS1
 * Glycogen storage disease Ib; ; SLC37A4
 * Glycogen storage disease Ic; ; SLC37A4
 * Glycogen storage disease Ic; ; SLC17A3
 * Glycogen storage disease II; ; GAA
 * Glycogen storage disease IIb; ; LAMP2
 * Glycogen storage disease IIIa; ; AGL
 * Glycogen storage disease IIIb; ; AGL
 * Glycogen storage disease IV; ; GBE1
 * Glycogen storage disease IXc; ; PHKG2
 * Glycogen storage disease of heart, lethal congenital; ; PRKAG2
 * Glycogen storage disease VII; ; PFKM
 * Glycogen storage disease X; ; PGAM2
 * Glycogen storage disease XI; ; LDHA
 * Glycogen storage disease XII; ; ALDOA
 * Glycogen storage disease XIII; ; ENO3
 * Glycogen storage disease XIV; ; PGM1
 * Glycogen storage disease XV; ; GYG1
 * Glycogen storage disease type 0; ; GYS2
 * Glycogen storage disease, type IXa1; ; PHKA2
 * Glycogen storage disease, type IXa2; ; PHKA2
 * Glycosylphosphatidylinositol deficiency; ; PIGM
 * GM1-gangliosidosis, type I; ; GLB1
 * GM1-gangliosidosis, type II; ; GLB1
 * GM1-gangliosidosis, type III; ; GLB1
 * GM2-gangliosidosis, AB variant; ; GM2A
 * GM2-gangliosidosis, several forms; ; HEXA
 * Gnathodiaphyseal dysplasia; ; ANO5
 * Goldberg–Shpritzen megacolon syndrome; ; KIAA1279
 * Gout, PRPS-related; ; PRPS1
 * GRACILE syndrome; ; BCS1L
 * Greenberg dysplasia; ; LBR
 * Greig cephalopolysyndactyly syndrome; ; GLI3
 * Griscelli syndrome type 1; ; MYO5A
 * Griscelli syndrome type 2; ; RAB27A
 * Griscelli syndrome type 3; ; MLPH
 * Growth hormone deficiency with pituitary anomalies; ; HESX1
 * Growth hormone deficiency, isolated, type IA; ; GH1
 * Growth hormone deficiency, isolated, type IB; ; GH1
 * Growth hormone deficiency, isolated, type IB; ; GHRHR
 * Growth hormone deficiency, isolated, type II; ; GH1
 * Growth hormone insensitivity with immunodeficiency; ; STAT5B
 * Growth retardation with deafness and mental retardation due to IGF1 deficiency; ; IGF1
 * Growth retardation, developmental delay, coarse facies, and early death; ; FTO
 * Guttmacher syndrome; ; HOXA13
 * Gyrate atrophy of choroid and retina with or without ornithinemia; ; OAT
 * Haddad syndrome; ; ASCL1
 * Hailey–Hailey disease; ; ATP2C1
 * Haim–Munk syndrome; ; CTSC
 * Hallermann–Streiff syndrome; ; GJA1
 * Hand-foot-uterus Syndrome; ; HOXA13
 * Harderoporphyria; ; CPOX
 * HARP syndrome; ; PANK2
 * Hartnup disorder; ; SLC6A19
 * Hawkinsinuria; ; HPD
 * Hay–Wells syndrome; ; TP63
 * HDL deficiency, type 2; ; ABCA1
 * Hearing loss, low-frequency sensorineural; ; WFS1
 * Heart block, nonprogressive; ; SCN5A
 * Heart block, progressive, type IA; ; SCN5A
 * Heinz body anemia; ; HBA2
 * Heinz body anemias, alpha-; ; HBA1
 * Heinz body anemias, beta-; ; HBB
 * HELLP syndrome, maternal, of pregnancy; ; HADHA
 * Hemangioma, capillary infantile, somatic; ; FLT4
 * Hemangioma, capillary infantile, somatic; ; KDR
 * Hematopoiesis, cyclic; ; ELANE
 * Hematuria, benign familial; ; COL4A3
 * Hemiplegic migraine, familial; ; CACNA1A
 * Hemochromatosis, type 2A; ; HJV
 * Hemochromatosis, type 2B; ; HAMP
 * Hemochromatosis, type 3; ; TFR2
 * Hemochromatosis, type 4; ; SLC40A1
 * Hemolytic anemia due to adenylate kinase deficiency; ; AK1
 * Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; ; GCLC
 * Hemolytic anemia due to glutathione synthetase deficiency; ; GSS
 * Hemolytic anemia due to hexokinase deficiency; ; HK1
 * Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; ; GPI
 * Hemolytic uremic syndrome, atypical, susceptibility to, 1; ; HF1
 * Hemophagocytic lymphohistiocytosis, familial, 2; ; PRF1
 * Hemophagocytic lymphohistiocytosis, familial, 3; ; UNC13D
 * Hemophagocytic lymphohistiocytosis, familial, 4; ; STX11
 * Hemophilia B; ; F9
 * Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh; ; SERPINA1
 * Hemosiderosis, systemic, due to aceruloplasminemia; ; CP
 * Hennekam lymphangiectasia-lymphedema syndrome; ; CCBE1
 * Hepatic adenoma; ; HNF1A
 * Hepatic venoocclusive disease with immunodeficiency; ; SP110
 * Hepatocellular cancer; ; PDGFRL
 * Hepatocellular carcinoma; ; CTNNB1
 * Hepatocellular carcinoma; ; TP53
 * Hepatocellular carcinoma, childhood type; ; MET
 * Hepatocellular carcinoma, somatic; ; AXIN1
 * Hepatocellular carcinoma, somatic; ; CASP8
 * Hepatocellular carcinoma, somatic; ; PIK3CA
 * Hereditary hemorrhagic telangiectasia-1; ; ENG
 * Hereditary hemorrhagic telangiectasia-2; ; ACVRL1
 * Hereditary motor and sensory neuropathy VI; ; MFN2
 * Hereditary motor and sensory neuropathy, type IIc; ; TRPV4
 * Hermansky–Pudlak syndrome 1; ; HPS1
 * Hermansky–Pudlak syndrome 2; ; AP3B1
 * Hermansky–Pudlak syndrome 3; ; HPS3
 * Hermansky–Pudlak syndrome 4; ; HPS4
 * Hermansky–Pudlak syndrome 5; ; HPS5
 * Hermansky–Pudlak syndrome 6; ; HPS6
 * Hermansky–Pudlak syndrome 7; ; DTNBP1
 * Hermansky–Pudlak syndrome 8; ; BLOC1S3
 * Heterotaxy, visceral, 1, S-linke; ; ZIC3
 * Heterotaxy, visceral, 2, autosomal; ; CFC1
 * Heterotaxy, visceral, 5; ; NODAL
 * Heterotopia, periventricular; ; FLNA
 * Heterotopia, periventricular, ED variant; ; FLNA
 * Hirschsprung's disease; ; GDNF
 * Hirschsprung's disease; ; RET
 * Hirschsprung disease, short-segment; ; PMX2B
 * Histiocytoma, angiomatoid fibrous, somatic; ; CREB1
 * HMG-CoA synthase-2 deficiency; ; HMGCS2
 * Hodgkin's lymphoma; ; KLHDC8B
 * Holocarboxylase synthetase deficiency; ; HLCS
 * Holoprosencephaly-2; ; SIX3
 * Holoprosencephaly-3; ; SHH
 * Holoprosencephaly-4; ; TGIF
 * Holoprosencephaly-5; ; ZIC2
 * Holoprosencephaly-7; ; PTCH1
 * Holoprosencephaly-9; ; GLI2
 * Holt–Oram syndrome; ; TBX5
 * Homocystinuria due to MTHFR deficiency; ; MTHFR
 * Homocystinuria, B6-responsive and nonresponsive types; ; CBS
 * Homocystinuria, cblD type, variant 1; ; C2orf25
 * Homocystinuria-megaloblastic anemia, cbl E type; ; MTRR
 * Hoyeraal–Hreidarsson syndrome; ; DKC1
 * HPRT-related gout; ; HPRT1
 * Huntington's disease; ; HTT
 * Huntington disease-like 1; ; PRNP
 * Huntington disease-like 2; ; JPH3
 * Hutchinson–Gilford progeria syndrome; ; LMNA
 * Hyalinosis, infantile systemic; ; ANTXR2
 * Hydatidiform mole; ; NALP7
 * Hydranencephaly with abnormal genitalia; ; ARX
 * Hydrocephalus due to aqueductal stenosis; ; L1CAM
 * Hydrocephalus with congenital idiopathic intestinal pseudoobstruction; ; L1CAM
 * Hydrocephalus with Hirschsprung disease and cleft palate; ; L1CAM
 * Hydrolethalus syndrome; ; HYLS1
 * Hyperalphalipoproteinemia; ; CETP
 * Hyperbilirubinemia, familial transcient neonatal; ; UGT1A1
 * Hypercarotenemia and vitamin A deficiency, autosomal dominant; ; BCMO1
 * Hypercholanemia, familial; ; BAAT
 * Hypercholanemia, familial; ; EPHX1
 * Hypercholanemia, familial; ; TJP2
 * Hypercholesterolemia, due to ligand-defective apo B; ; APOB
 * Hypercholesterolemia, familial; ; LDLR
 * Hypercholesterolemia, familial, 3; ; PCSK9
 * Hypercholesterolemia, familial, autosomal recessive; ; LDLRAP1
 * Hypercholesterolemia, familial, modification of; ; APOA2
 * Hyperchylomicronemia, late-onset; ; APOA5
 * Hyperekplexia and epilepsy; ; ARHGEF9
 * Hyperekplexia; ; GPHN
 * Hyperekplexia; ; SLC6A5
 * Hyperekplexia, autosomal recessive; ; GLRB
 * Hypereosinophilic syndrome, idiopathic, resistant to imatinib; ; PDGFRA
 * Hyperferritinemia-cataract syndrome; ; FTL
 * Hyperfibrinolysis, familial, due to increased release of PLAT; ; PLAT
 * Hyperglycinuria; ; SLC36A2
 * Hyperglycinuria; ; SLC6A19
 * Hyperglycinuria; ; SLC6A20
 * Hyper-IgD syndrome; ; MVK
 * Hyper-IgE recurrent infection syndrome; ; STAT3
 * Hyper-IgE recurrent infection syndrome, autosomal recessive; ; DOCK8
 * Hyperinsulinemic hypoglycemia, familial, 1; ; ABCC8
 * Hyperinsulinemic hypoglycemia, familial, 2; ; KCNJ11
 * Hyperinsulinemic hypoglycemia, familial, 3; ; GCK
 * Hyperinsulinemic hypoglycemia, familial, 4; ; HADHSC
 * Hyperinsulinemic hypoglycemia, familial, 5; ; INSR
 * Hyperinsulinemic hypoglycemia, familial, 7; ; SLC16A1
 * Hyperinsulinism-hyperammonemia syndrome; ; GLUD1
 * Hyperkalemic periodic paralysis, type 2; ; SCN4A
 * Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations; ; CCM1
 * Hyperlipoproteinemia, type Ib; ; APOC2
 * Hyperlysinemia; ; AASS
 * Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; ; MAT1A
 * Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; ; SLC25A15
 * Hyperostosis, endosteal; ; LRP5
 * Hyperoxaluria, primary, type 1; ; AGXT
 * Hyperoxaluria, primary, type II; ; GRHPR
 * Hyperoxaluria, primary, type III; ; DHDPSL
 * Hyperparathyroidism, AD; ; MEN1
 * Hyperparathyroidism, familial primary; ; HRPT2
 * Hyperparathyroidism, neonatal; ; CASR
 * Hyperparathyroidism-jaw tumor syndrome; ; HRPT2
 * Hyperpehnylalaninemia, BH4-deficient, B; ; GCH1
 * Hyperphenylalaninemia, BH4-deficient, A; ; PTS
 * Hyperphenylalaninemia, BH4-deficient, C; ; QDPR
 * Hyperphenylalaninemia, BH4-deficient, D; ; PCBD
 * Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism; ; SLC29A3
 * Hyperpigmentation, familial progressive; ; KITLG
 * Hyperprolinemia, type I; ; PRODH
 * Hyperprolinemia, type II; ; ALDH4A1
 * Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy; ; NR3C2
 * Hypertension, essential; ; PNMT
 * Hypertension, essential; ; AGTR1
 * Hypertension, essential; ; PTGIS
 * Hyperthyroidism, familial gestational; ; TSHR
 * Hyperthyroidism, nonautoimmune; ; TSHR
 * Hypertrophic osteoarthropathy, primary, autosomal recessive; ; HPGD
 * Hyperuricemic nephropathy, familial juvenile 1; ; UMOD
 * Hyperuricemic nephropathy, familial juvenile 2; ; REN
 * Hypoaldosteronism, congenital, due to CMO I deficiency; ; CYP11B2
 * Hypoaldosteronism, congenital, due to CMO II deficiency; ; CYP11B2
 * Hypoalphalipoproteinemia; ; APOA1
 * Hypocalcemia, autosomal dominant; ; CASR
 * Hypocalciuric hypercalcemia, type I; ; CASR
 * Hypochondroplasia; ; FGFR3
 * Hypoglycemia of infancy, leucine-sensitive; ; ABCC8
 * Hypogonadism, hypogonadotropic; ; PROK2
 * Hypogonadotropic hypogonadism due to GNRH deficiency; ; GNRH1
 * Hypogonadotropic hypogonadism; ; CHD7
 * Hypogonadotropic hypogonadism; ; FGFR1
 * Hypogonadotropic hypogonadism; ; KISS1R
 * Hypogonadotropic hypogonadism; ; NELF
 * Hypogonadotropic hypogonadism; ; TAC3
 * Hypogonadotropic hypogonadism; ; TACR3
 * Hypokalemic periodic paralysis type 1; ; CACNA1S
 * Hypomagnesemia 4, renal; ; EGF
 * Hypomagnesemia with secondary hypocalcemia; ; TRPM6
 * Hypomagnesemia, primary; ; CLDN16
 * Hypomagnesemia, renal, with ocular involvement; ; CLDN19
 * Hypomagnesemia-2, renal; ; FXYD2
 * Hypomyelination, global cerebral; ; SLC25A12
 * Hypoparathyroidism, autosomal dominant; ; PTH
 * Hypoparathyroidism, autosomal recessive; ; PTH
 * Hypoparathyroidism, familial isolated; ; GCMB
 * Hypoparathyroidism, sensorineural deafness, and renal dysplasia; ; GATA3
 * Hypoparathyroidism-retardation-dysmorphism syndrome; ; TBCE
 * Hypophosphatasia, adult; ; ALPL
 * Hypophosphatasia, childhood; ; ALPL
 * Hypophosphatasia, infantile; ; ALPL
 * Hypophosphatemia, X-linked; ; PHEX
 * Hypophosphatemic rickets with hypercalciuria; ; SLC34A3
 * Hypophosphatemic rickets; ; CLCN5
 * Hypophosphatemic rickets, AR; ; DMP1
 * Hypophosphatemic rickets, autosomal dominant; ; FGF23
 * Hypophosphatemic rickets, autosomal recessive, 2; ; ENPP1
 * Hypoplastic left heart syndrome; ; GJA1
 * Hypoproteinemia, hypercatabolic; ; B2M
 * Hypospadias 1, X-linked; ; AR
 * Hypospadias 2, X-linked; ; MAMLD1
 * Hypothryoidism, congenital, nongoitrous 4; ; TSHB
 * Hypothyroidism, congenital nongoitrous, 5; ; NKX2E
 * Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia; ; PAX8
 * Hypothyroidism, congenital, nongoitrous; ; TSHR
 * Hypotrichosis and recurrent skin vesicles; ; DSC3
 * Hypotrichosis simplex of scalp; ; CDSN
 * Hypotrichosis, congenital, with juvenile macular dystrophy; ; CDH3
 * Hypotrichosis, hereditary, Marie Unna type, 1; ; HR
 * Hypotrichosis, localized, autosomal recessive 2; ; LIPH
 * Hypotrichosis, localized, autosomal recessive, 3; ; P2RY5
 * Hypotrichosis, localized, autosomal recessive; ; DSG4
 * Hypotrichosis-lymphedema-telangiectasia syndrome; ; SOX18
 * Hypouricemia, renal, 2; ; SLC2A9
 * Hypouricemia, renal; ; SLC22A12
 * Hystrix-like ichthyosis with deafness; ; GJB2
 * Ichthyosiform erythroderma, congenital; ; TGM1
 * Ichthyosiform erythroderma, congenital, nonbullous, 1; ; ALOX12B
 * Ichthyosiform erythroderma, congenital, nonbullous, 1; ; ALOXE3
 * Ichthyosis bullosa of Siemens; ; KRT2
 * Ichthyosis follicularis, atrichia, and photophobia syndrome; ; MBTPS2
 * Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic; ; KRT1
 * Ichthyosis prematurity syndrome; ; SLC27A4
 * Ichthyosis vulgaris; ; FLG
 * Ichthyosis with confetti; ; KRT10
 * Ichthyosis with hypotrichosis; ; ST14
 * Ichthyosis, congenital, autosomal recessive; ; ICHYN
 * Ichthyosis, cyclic, with epidermolytic hyperkeratosis; ; KRT1
 * Ichthyosis, cyclic, with epidermolytic hyperkeratosis; ; KRT10
 * Ichthyosis, harlequin; ; ABCA12
 * Ichthyosis, lamellar 2; ; ABCA12
 * Ichthyosis, lamellar, 3; ; CYP4F22
 * Ichthyosis, lamellar, autosomal recessive; ; TGM1
 * Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; ; CLDN1
 * Ichthyosis, X-linked; ; STS
 * Iminoglycinuria, digenic; ; SLC36A2
 * Iminoglycinuria, digenic; ; SLC6A19
 * Iminoglycinuria, digenic; ; SLC6A20
 * Immune dysfunction with T-cell inactivation due to calcium entry defect 1; ; ORAI1
 * Immune dysfunction, with T-cell inactivation due to calcium entry defect 2; ; STIM1
 * Immunodeficiency due to defect in CD3-zeta; ; CD247
 * Immunodeficiency due to defect in MAPBP-interacting protein; ; MAPBPIP
 * Immunodeficiency due to purine nucleoside phosphorylase deficiency; ; PNP
 * Immunodeficiency with hyper IgM, type 4; ; UNG
 * Immunodeficiency with hyper-IgM, type 2; ; AICDA
 * Immunodeficiency with hyper-IgM, type 3; ; TNFRSF5
 * Immunodeficiency, common variable, 1; ; ICOS
 * Immunodeficiency, common variable, 2; ; TNFRSF13B
 * Immunodeficiency, common variable, 3; ; CD19
 * Immunodeficiency, common variable, 4; ; TNFRSF13C
 * Immunodeficiency, common variable, 5; ; MS4A1
 * Immunodeficiency, common variable, 6; ; CD81
 * Immunodeficiency, hypogammaglobulinemia, and reduced B cells; ; CD79B
 * Immunodeficiency, isolated; ; IKBKG
 * Immunodeficiency, X-linked, with hyper-IgM; ; TNFSF5
 * Immunodeficiency–centromeric instability–facial anomalies syndrome; ; DNMT3B
 * Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; ; FOXP3
 * Immunoglobulin A deficiency 2; ; TNFRSF13B
 * Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; ; VCP
 * Inclusion body myopathy, autosomal recessive; ; GNE
 * Inclusion body myopathy-3; ; MYH2
 * Incontinentia pigmenti, type II; ; IKBKG
 * Infantile neuroaxonal dystrophy 1; ; PLA2G6
 * Inflammatory bowel disease 25; ; CRFB4
 * Insensitivity to pain, channelopathy-associated; ; SCN9A
 * Insensitivity to pain, congenital, with anhidrosis; ; NTRK1
 * Insomnia, fatal familial; ; PRNP
 * Insulin resistance, severe, digenic; ; PPARG
 * Insulin resistance, severe, digenic; ; PPP1R3A
 * Insulin-like growth factor I, resistance to; ; IGF1R
 * Interleukin 1 receptor antagonist deficiency; ; IL1RN
 * Interleukin-2 receptor, alpha chain, deficiency of; ; IL2RA
 * Intestinal pseudoobstruction, neuronal; ; FLNA
 * Intrinsic factor deficiency; ; GIF
 * Invasive pneumococcal disease, recurrent isolated, 1; ; IRAK4
 * IRAK4 deficiency; ; IRAK4
 * Iridogoniodysgenesis, type 1; ; FOXC1
 * Iridogoniodysgenesis, type 2; ; PITX2
 * Iris hypoplasia and glaucoma; ; FOXC1
 * Iron-refractory iron deficiency anemia; ; TMPRSS6
 * Isobutyryl-coenzyme A dehydrogenase deficiency; ; ACAD8
 * Isovaleric acidemia; ; IVD
 * IVIC syndrome; ; SALL4
 * Jackson–Weiss syndrome; ; FGFR1
 * Jackson–Weiss syndrome; ; FGFR2
 * Jalili syndrome; ; CNNM4
 * Jensen syndrome; ; TIMM8A
 * Jervell and Lange-Nielsen syndrome 2; ; KCNE1
 * Jervell and Lange-Nielsen syndrome; ; KCNQ1
 * Johanson–Blizzard syndrome; ; UBR1
 * Joubert syndrome 1; ; INPP5E
 * Joubert syndrome 10; ; OFD1
 * Joubert syndrome 2; ; TMEM216
 * Joubert syndrome 4; ; NPHP1
 * Joubert syndrome 5; ; CEP290
 * Joubert syndrome 6; ; TMEM67
 * Joubert syndrome 7; ; RPGRIP1L
 * Joubert syndrome 8; ; ARL13B
 * Joubert syndrome 9; ; CC2D2A
 * Joubert syndrome-3; ; AHI1
 * Juvenile polyposis syndrome, infantile form; ; BMPR1A
 * Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; ; MADH4
 * Kallmann syndrome 2; ; FGFR1
 * Kallmann syndrome 3; ; PROKR2
 * Kallmann syndrome 4; ; PROK2
 * Kallmann syndrome 5; ; CHD7
 * Kallmann syndrome 6; ; FGF8
 * Kanzaki disease; ; NAGA
 * Karak syndrome; ; PLA2G6
 * Kenny–Caffey syndrome-1; ; TBCE
 * Keratitis; ; PAX6
 * Keratitis–ichthyosis–deafness syndrome; ; GJB2
 * Keratoconus; ; VSX1
 * Keratoderma, palmoplantar, with deafness; ; GJB2
 * Keratosis follicularis spinulosa decalvans; ; SAT1
 * Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; ; POMP
 * Keratosis palmoplantaris striata I; ; DSG1
 * Keratosis palmoplantaris striata II; ; DSP
 * Keratosis palmoplantaris striata III; ; KRT1
 * Keratosis, seborrheic, somatic; ; PIK3CA
 * Keutel syndrome; ; MGP
 * Kindler syndrome; ; KIND1
 * Kleefstra syndrome; ; EHMT1
 * Klippel–Feil syndrome, autosomal dominant; ; GDF6
 * Kniest dysplasia; ; COL2A1
 * Knobloch syndrome, type 1; ; COL18A1
 * Kowarski syndrome; ; GH1
 * Krabbe disease; ; GALC
 * Krabbe disease, atypical; ; PSAP
 * L-2-hydroxyglutaric aciduria; ; L2HGDH
 * Lactase deficiency, congenital; ; LCT
 * Lactase persistence/nonpersistence; ; MCM6
 * Lactic acidosis, fatal infantile; ; SUCLG1
 * Lacticacidemia due to PDX1 deficiency; ; PDX1
 * LADD syndrome; ; FGF10
 * LADD syndrome; ; FGFR3
 * Laing distal myopathy; ; MYH7
 * Langer mesomelic dysplasia; ; SHOX
 * Langer mesomelic dysplasia; ; SHOXY
 * Laron dwarfism; ; GHR
 * Larsen syndrome; ; FLNB
 * Laryngoonychocutaneous syndrome; ; LAMA3
 * Lathosterolosis; ; SC5DL
 * LCHAD deficiency; ; HADHA
 * Leber congenital amaurosis 1; ; GUCY2D
 * Leber congenital amaurosis 10; ; CEP290
 * Leber congenital amaurosis 12; ; RD3
 * Leber congenital amaurosis 13; ; RDH12
 * Leber congenital amaurosis 14; ; LRAT
 * Leber congenital amaurosis 2; ; RPE65
 * Leber congenital amaurosis 3; ; SPATA7
 * Leber congenital amaurosis 4; ; AIPL1
 * Leber congenital amaurosis 5; ; LCA5
 * Left ventricular noncompaction 1, with or without congenital heart defects; ; DTNA
 * Left ventricular noncompaction 3, with or without dilated cardiomyopathy; ; LDB3
 * Left ventricular noncompaction 4; ; ACTC1
 * Left ventricular noncompaction 5; ; MYH7
 * Left ventricular noncompaction 6; ; TNNT2
 * Left ventricular noncompaction, X-linked; ; TAZ
 * Legius syndrome; ; SPRED1
 * Leigh syndrome due to cytochrome c oxidase deficiency; ; COX15
 * Leigh syndrome due to mitochondrial complex I deficiency; ; C8orf38
 * Leigh syndrome due to mitochondrial complex I deficiency; ; NDUFA2
 * Leigh syndrome; ; BCS1L
 * Leigh syndrome; ; DLD
 * Leigh syndrome; ; NDUFS3
 * Leigh syndrome; ; NDUFS4
 * Leigh syndrome; ; NDUFS7
 * Leigh syndrome; ; NDUFS8
 * Leigh syndrome; ; NDUFV1
 * Leigh syndrome; ; SDHA
 * Leigh syndrome, due to COX deficiency; ; SURF1
 * Leigh syndrome, French-Canadian type; ; LRPPRC
 * Leigh syndrome, X-linked; ; PDHA1
 * Leiomyomatosis and renal cell cancer; ; FH
 * Leiomyomatosis, diffuse, with Alport syndrome; ; COL4A6
 * LEOPARD syndrome 2; ; RAF1
 * Leopard syndrome; ; PTPN11
 * Leprechaunism; ; INSR
 * Léri–Weill dyschondrosteosis; ; SHOX
 * Leri–Weill dyschondrosteosis; ; SHOXY
 * Lesch–Nyhan syndrome; ; HPRT1
 * Lethal congenital contractural syndrome 2; ; ERBB3
 * Lethal congenital contractural syndrome 3; ; PIP5K1C
 * Lethal congenital contracture syndrome 1; ; GLE1
 * Leukemia, acute lymphocytic; ; BCR
 * Leukemia, acute myelogenous; ; AMLCR2
 * Leukemia, acute myelogenous; ; GMPS
 * Leukemia, acute myelogenous; ; JAK2
 * Leukemia, acute myeloid; ; MLF1
 * Leukemia, acute myeloid; ; NSD1
 * Leukemia, acute myeloid; ; SH3GL1
 * Leukemia, acute myeloid; ; AF10
 * Leukemia, acute myeloid; ; ARHGEF12
 * Leukemia, acute myeloid; ; CEBPA
 * Leukemia, acute myeloid; ; FLT3
 * Leukemia, acute myeloid; ; KIT
 * Leukemia, acute myeloid; ; LPP
 * Leukemia, acute myeloid; ; NPM1
 * Leukemia, acute myeloid; ; NUP214
 * Leukemia, acute myeloid; ; PICALM
 * Leukemia, acute myeloid; ; RUNX1
 * Leukemia, acute myeloid; ; WHSC1L1
 * Leukemia, acute myeloid, somatic; ; ETV6
 * Leukemia, acute promyelocytic; ; RARA
 * Leukemia, chronic myeloid; ; BCR
 * Leukemia, juvenile myelomonocytic; ; ARHGAP26
 * Leukemia, juvenile myelomonocytic; ; NF1
 * Leukemia, juvenile myelomonocytic; ; PTPN11
 * Leukemia, megakaryoblastic, of Down syndrome; ; GATA1
 * Leukemia, megakaryoblastic, with or without Down syndrome; ; GATA1
 * Leukocyte adhesion deficiency; ; ITGB2
 * Leukocyte adhesion deficiency, type III; ; KIND3
 * Leukodystrophy, adult-onset, autosomal dominant; ; LMNB1
 * Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia; ; FA2H
 * Leukodystrophy, hypomyelinating, 2; ; GJC2
 * Leukodystrophy, hypomyelinating, 4; ; HSPD1
 * Leukodystrophy, hypomyelinating, 5; ; FAM126A
 * Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; ; DARS2
 * Leukoencephalopathy with vanishing white matter; ; EIF2B1
 * Leukoencephalopathy with vanishing white matter; ; EIF2B2
 * Leukoencephalopathy with vanishing white matter; ; EIF2B3
 * Leukoencephalopathy with vanishing white matter; ; EIF2B5
 * Leukoencephalopathy, cystic, without megalencephaly; ; RNASET2
 * Leukoencephaly with vanishing white matter; ; EIF2B4
 * Leydig cell adenoma, somatic, with precocious puberty; ; LHCGR
 * Leydig cell hypoplasia with hypergonadotropic hypogonadism; ; LHCGR
 * Leydig cell hypoplasia with pseudohermaphroditism; ; LHCGR
 * Lhermitte–Duclos syndrome; ; PTEN
 * Liddle syndrome; ; SCNN1B
 * Liddle syndrome; ; SCNN1G
 * Li–Fraumeni syndrome; ; CDKN2A
 * Li–Fraumeni syndrome; ; TP53
 * Li–Fraumeni syndrome; ; CHEK2
 * Li–Fraumeni-like syndrome; ; TP53
 * LIG4 syndrome; ; LIG4
 * Limb-mammary syndrome; ; TP63
 * Lipase deficiency, combined; ; LMF1
 * Lipodystrophy, congenital generalized, type 1; ; AGPAT2
 * Lipodystrophy, congenital generalized, type 2; ; BSCL2
 * Lipodystrophy, congenital generalized, type 3; ; CAV1
 * Lipodystrophy, congenital generalized, type 4; ; PTRF
 * Lipodystrophy, familial partial; ; LMNA
 * Lipodystrophy, familial partial, type 3; ; PPARG
 * Lipodystrophy, partial, acquired; ; LMNB2
 * Lipoid adrenal hyperplasia; ; STAR
 * Lipoid congenital adrenal hyperplasia; ; CYP11A
 * Lipoid proteinosis; ; ECM1
 * Lipoprotein glomerulopathy; ; APOE
 * Lipoprotein lipase deficiency; ; LPL
 * Lissencephaly 3; ; TUBA1A
 * Lissencephaly syndrome, Norman–Roberts type; ; RELN
 * Lissencephaly, X-linked 2; ; ARX
 * Lissencephaly, X-linked; ; DCX
 * Lissencephaly-1; ; PAFAH1B1
 * Liver failure, acute infantile; ; TRMU
 * Loeys–Dietz syndrome, type 1A; ; TGFBR1
 * Loeys–Dietz syndrome, type 1B; ; TGFBR2
 * Loeys–Dietz syndrome, type 2A; ; TGFBR1
 * Loeys–Dietz syndrome, type 2B; ; TGFBR2
 * Long QT syndrome 12; ; SNT1
 * Long QT syndrome 13; ; KCNJ5
 * Long QT syndrome-1; ; KCNQ1
 * Long QT syndrome-10; ; SCN4B
 * Long QT syndrome-11; ; AKAP9
 * Long QT syndrome-3; ; SCN5A
 * Long QT syndrome-4; ; ANK2
 * Long QT syndrome-7; ; KCNJ2
 * Long QT syndrome-9; ; CAV3
 * Lowe syndrome; ; OCRL
 * Lujan–Fryns syndrome; ; MED12
 * Lung cancer; ; DLEC1
 * Lung cancer; ; RASSF1
 * Lung cancer; ; KRAS
 * Lung cancer; ; PPP2R1B
 * Lung cancer; ; SLC22A1L
 * Lung cancer, somatic; ; MAP3K8
 * Luteinizing hormone resistance, female; ; LHCGR
 * Lymphangioleiomyomatosis; ; TSC1
 * Lymphangioleiomyomatosis, somatic; ; TSC2
 * Lymphedema, hereditary I; ; FLT4
 * Lymphedema, hereditary, IC; ; GJC2
 * Lymphedema–distichiasis syndrome with renal disease and diabetes mellitus; ; FOXC2
 * Lymphedema–distichiasis syndrome; ; FOXC2
 * Lymphoma, non-Hodgkin; ; PRF1
 * Lymphoma, non-Hodgkin, somatic; ; RAD54L
 * Lymphoproliferative syndrome, EBV-associated, autosomal, 1; ; ITK
 * Lymphoproliferative syndrome, X-linked, 2; ; BIRC4
 * Lymphoproliferative syndrome, X-linked; ; SH2D1A
 * Lysinuric protein intolerance; ; SLC7A7
 * Lysosomal acid phosphatase deficiency; ; ACP2
 * Lysyl hydroxylase 3 deficiency; ; PLOD3
 * Machado–Joseph disease; ; ATXN3
 * Macrocephaly, alopecia, cutis laxa, and scoliosis; ; RIN2
 * Macrocephaly/autism syndrome; ; PTEN
 * Macrocytic anemia, refractory, due to 5q deletion, somatic; ; RPS14
 * Macrothrombocytopenia and progressive sensorineural deafness; ; MYH9
 * Macrothrombocytopenia; ; GATA1
 * Macrothrombocytopenia, autosomal dominant, TUBB1-related; ; TUBB1
 * Macular corneal dystrophy; ; CHST6
 * Macular degeneration, age-related, 11; ; CST3
 * Macular degeneration, age-related, 2; ; ABCA4
 * Macular degeneration, age-related, 3; ; FBLN5
 * Macular degeneration juvenile; ; CNGB3
 * Macular dystrophy, autosomal dominant, chromosome 6-linked; ; ELOVL4
 * Macular dystrophy, patterned; ; PRPH2
 * Macular dystrophy, retinal, 2; ; PROM1
 * Macular dystrophy, vitelliform; ; PRPH2
 * Majeed syndrome; ; LPIN2
 * Major depressive disorder 1; ; MDD1
 * Major depressive disorder 2; ; MDD2
 * Male infertility with large-headed, multiflagellar, polyploid spermatozoa; ; STK13
 * Male infertility, nonsyndromic, autosomal recessive; ; CATSPER1
 * Malonyl-CoA decarboxylase deficiency; ; MLYCD
 * Mandibuloacral dysplasia with type B lipodystrophy; ; ZMPSTE24
 * Mandibuloacral dysplasia; ; LMNA
 * Mannosidosis, alpha-, types I and II; ; MAN2B1
 * Mannosidosis, beta; ; MANBA
 * Maple syrup urine disease, type Ia; ; BCKDHA
 * Maple syrup urine disease, type Ib; ; BCKDHB
 * Maple syrup urine disease, type II; ; DBT
 * Maple syrup urine disease, type III; ; DLD
 * Marfan syndrome; ; FBN1
 * Marinesco–Sjögren syndrome; ; SIL1
 * Maroteaux–Lamy syndrome, several forms; ; ARSB
 * Marshall syndrome; ; COL11A1
 * Martsolf syndrome; ; RAB3GAP2
 * MASA syndrome; ; L1CAM
 * MASS syndrome; ; FBN1
 * Mast syndrome; ; ACP33
 * Maturity-onset diabetes of the young 6; ; NEUROD1
 * Maturity-onset diabetes of the young, type 10; ; INS
 * Maturity-onset diabetes of the young, type 11; ; BLK
 * Maturity-onset diabetes of the young, type IX; ; PAX4
 * Maturity-onset diabetes of the young, type VII; ; KLF11
 * Maturity-onset diabetes of the young, type VIII; ; CEL
 * May–Hegglin anomaly; ; MYH9
 * McArdle disease; ; PYGM
 * McCune–Albright syndrome; ; GNAS
 * McKusick–Kaufman syndrome; ; MKKS
 * Meacham syndrome; ; WT1
 * Meckel syndrome 7; ; NPHP3
 * Meckel syndrome type 4; ; CEP290
 * Meckel syndrome, type 1; ; MKS1
 * Meckel syndrome, type 3; ; TMEM67
 * Meckel syndrome, type 5; ; RPGRIP1L
 * Meckel syndrome, type 6; ; CC2D2A
 * Medullary cystic kidney disease 2; ; UMOD
 * Medullary thyroid carcinoma; ; RET
 * Medullary thyroid carcinoma, familial; ; NTRK1
 * Medulloblastoma; ; PTCH2
 * Medulloblastoma, desmoplastic; ; SUFU
 * Meesmann corneal dystrophy; ; KRT12
 * Meesmann corneal dystrophy; ; KRT3
 * Megalencephalic leukoencephalopathy with subcortical cysts; ; MLC1
 * Megaloblastic anemia-1, Finnish type; ; CUBN
 * Megaloblastic anemia-1, Norwegian type; ; AMN
 * Melanoma and neural system tumor syndrome; ; CDKN2A
 * Melanoma; ; CDK4
 * Melanoma, cutaneous malignant, 2; ; CDKN2A
 * Meleda disease; ; SLURP1
 * Melnick–Needles syndrome; ; FLNA
 * Melorheostosis with osteopoikilosis; ; LEMD3
 * Membranoproliferative glomerulonephritis with CFH deficiency; ; HF1
 * Meningioma; ; MN1
 * Meningioma, NF2-related, somatic; ; NF2
 * Menkes disease; ; ATP7A
 * Mental retardation and microcephaly with pontine and cerebellar hypoplasia; ; CASK
 * Mental retardation in cri-du-chat syndrome; ; CTNND2
 * Mental retardation syndrome, X-linked, Cabezas type; ; CUL4B
 * Mental retardation syndrome, X-linked, Siderius type; ; PHF8
 * Mental retardation, autosomal dominant 1; ; MBD5
 * Mental retardation, autosomal dominant 3; ; CDH15
 * Mental retardation, autosomal dominant 4; ; KIRREL3
 * Mental retardation, autosomal dominant 5; ; SYNGAP
 * Mental retardation, autosomal recessive 1; ; PRSS12
 * Mental retardation, autosomal recessive 13; ; TRAPPC9
 * Mental retardation, autosomal recessive 2A; ; CRBN
 * Mental retardation, autosomal recessive 3; ; CC2D1A
 * Mental retardation, autosomal recessive 7; ; TUSC3
 * Mental retardation, autosomal recessive, 6; ; GRIK2
 * Mental retardation, FRA12A type; ; DIP2B
 * Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities; ; PYCS
 * Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; ; MEF2C
 * Mental retardation, truncal obesity, retinal dystrophy, and micropenis; ; INPP5E
 * Mental retardation, X-linked 1; ; IQSEC2
 * Mental retardation, X-linked 17/31, microduplication; ; HSD17B10
 * Mental retardation, X-linked 30; ; PAK3
 * Mental retardation, X-linked 36/43/54; ; ARX
 * Mental retardation, X-linked 45; ; ZNF81
 * Mental retardation, X-linked 58; ; TM4SF2
 * Mental retardation, X-linked 59; ; AP1S2
 * Mental retardation, X-linked 93; ; BRWD3
 * Mental retardation, X-linked 94; ; GRIA3
 * Mental retardation, X-linked 95; ; MAGT1
 * Mental retardation, X-linked nonspecific; ; GDI1
 * Mental retardation, X-linked nonspecific, 63; ; ACSL4
 * Mental retardation, X-linked nonspecific, type 46; ; ARHGEF6
 * Mental retardation, X-linked syndromic 10; ; HSD17B10
 * Mental retardation, X-linked syndromic, Christianson type; ; SLC9A6
 * Mental retardation, X-linked syndromic, Turner type; ; HUWE1
 * Mental retardation, X-linked, 21/34; ; IL1RAPL1
 * Mental retardation, X-linked; ; NLGN4
 * Mental retardation, X-linked, FRAXE type; ; AFF2
 * Mental retardation, X-linked, Lubs type; ; MECP2
 * Mental retardation, X-linked, Snyder-Robinson type; ; SMS
 * Mental retardation, X-linked, syndromic 13; ; MECP2
 * Mental retardation, X-linked, syndromic 14; ; UPF3B
 * Mental retardation, X-linked, syndromic, JARID1C-related; ; KDM5C
 * Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance; ; OPHN1
 * Mental retardation, X-linked, with epilepsy; ; ATP6AP2
 * Mental retardation, X-linked, with isolated growth hormone deficiency; ; SOX3
 * Mental retardation, X-linked, with or without epilepsy; ; SYP
 * Mental retardation, X-linked, ZDHHC9-related; ; ZDHHC9
 * Mental retardation, X-linked-72; ; RAB39B
 * Mental retardation, X-linked-9; ; FTSJ1
 * Mental retardation, X-linked-91; ; ZDHHC15
 * Mental retardation-hypotonic facies syndrome, X-linked, 2; ; CUL4B
 * Mental retardation-hypotonic facies syndrome, X-linked; ; ATRX
 * Mephenytoin poor metabolizer; ; CYP2C
 * Metachondromatosis; ; PTPN11
 * Metachromatic leukodystrophy due to SAP-b deficiency; ; PSAP
 * Metachromatic leukodystrophy; ; ARSA
 * Metaphyseal anadysplasia 1; ; MMP13
 * Metaphyseal anadysplasia 2; ; MMP9
 * Metaphyseal chondrodysplasia, Murk Jansen type; ; PTHR1
 * Metaphyseal dysplasia without hypotrichosis; ; RMRP
 * Metatropic dysplasia; ; TRPV4
 * Methemoglobinemia, type I; ; CYB5R3
 * Methemoglobinemia, type II; ; CYB5R3
 * Methemoglobinemia, type IV; ; CYB5A
 * Methionine adenosyltransferase deficiency, autosomal recessive; ; MAT1A
 * Methylcobalamin deficiency, cblG type; ; MTR
 * Methylmalonic aciduria and homocystinuria, cblC type; ; MMACHC
 * Methylmalonic aciduria and homocystinuria, cblD type; ; C2orf25
 * Methylmalonic aciduria and homocystinuria, cblF type; ; LMBRD1
 * Methylmalonic aciduria due to transcobalamin receptor defect; ; CD320
 * Methylmalonic aciduria, cblD type, variant 2; ; C2orf25
 * Methylmalonic aciduria, vitamin B12-responsive; ; MMAA
 * Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; ; MMAB
 * Methylmalonyl-CoA epimerase deficiency; ; MCEE
 * Mevalonic aciduria; ; MVK
 * MHC class II deficiency, complementation group B; ; RFXANK
 * Micochondrial phosphate carrier deficiency; ; SLC25A3
 * Microcephalic osteodysplastic primordial dwarfism type II; ; PCNT
 * Microcephaly and digital abnormalities with normal intelligence; ; MYCN
 * Microcephaly, Amish type; ; SLC25A19
 * Microcephaly, autosomal recessive 1; ; MCPH1
 * Microcephaly, primary autosomal recessive, 2; ; MCPH2
 * Microcephaly, primary autosomal recessive, 3; ; CDK5RAP2
 * Microcephaly, primary autosomal recessive, 4; ; MCPH4
 * Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern; ; ASPM
 * Microcephaly, primary autosomal recessive, 6; ; CEMPJ
 * Microcephaly, primary autosomal recessive, 7; ; STIL
 * Microcephaly, seizures, and developmental delay; ; PNKP
 * Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma; ; BEST1
 * Microphthalmia, isolated 2; ; CHX10
 * Microphthalmia, isolated 3; ; RAX
 * Microphthalmia, isolated 4; ; GDF6
 * Microphthalmia, isolated 5; ; MFRP
 * Microphthalmia, isolated, with cataract 2; ; SIX6
 * Microphthalmia, isolated, with cataract 4; ; CRYBA4
 * Microphthalmia, isolated, with coloboma 3; ; CHX10
 * Microphthalmia, isolated, with coloboma 5; ; SHH
 * Microphthalmia, syndromic 2; ; BCOR
 * Microphthalmia, syndromic 3; ; SOX2
 * Microphthalmia, syndromic 5; ; OTX2
 * Microphthalmia, syndromic 6; ; BMP4
 * Microphthalmia, syndromic 7; ; HCCS
 * Microphthalmia, syndromic 9; ; STRA6
 * Microtia, hearing impairment, and cleft palate; ; HOXA2
 * Microvillus inclusion disease; ; MYO5B
 * Migraine, familial basilar; ; ATP1A2
 * Migraine, familial hemiplegic, 2; ; ATP1A2
 * Migraine, familial hemiplegic, 3; ; SCN1A
 * Migraine, resistance to; ; EDNRA
 * Miller syndrome; ; DHODH
 * Minicore myopathy with external ophthalmoplegia; ; RYR1
 * Mirror movements, congenital; ; DCC
 * Mirror-image polydactyly; ; MIPOL1
 * Mismatch repair cancer syndrome; ; MLH1
 * Mismatch repair cancer syndrome; ; MSH2
 * Mismatch repair cancer syndrome; ; MSH6
 * Mismatch repair cancer syndrome; ; PMS2
 * Mitochondrial complex 1 deficiency; ; C20orf7
 * Mitochondrial complex I deficiency; ; NDUFA1
 * Mitochondrial complex I deficiency; ; NDUFA11
 * Mitochondrial complex I deficiency; ; NDUFAF2
 * Mitochondrial complex I deficiency; ; NDUFAF3
 * Mitochondrial complex I deficiency; ; NDUFAF4
 * Mitochondrial complex I deficiency; ; NDUFS1
 * Mitochondrial complex I deficiency; ; NDUFS2
 * Mitochondrial complex I deficiency; ; NDUFS4
 * Mitochondrial complex I deficiency; ; NDUFV1
 * Mitochondrial complex I deficiency; ; NDUFV2
 * Mitochondrial complex II deficiency; ; SDHAF1
 * Mitochondrial complex III deficiency; ; BCS1L
 * Mitochondrial complex III deficiency; ; UQCRB
 * Mitochondrial complex III deficiency; ; UQCRQ
 * Mitochondrial complex IV deficiency; ; FASTKD2
 * Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria; ; SUCLA2
 * Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; ; RRM2B
 * Mitochondrial DNA depletion syndrome, hepatocerebral form; ; C10orf2
 * Mitochondrial DNA depletion syndrome, hepatocerebral form; ; MPV17
 * Mitochondrial DNA depletion syndrome, myopathic form; ; TK2
 * Mitochondrial DNA-depletion syndrome, hepatocerebral form; ; DGUOK
 * Mitochondrial myopathy and sideroblastic anemia; ; PUS1
 * Mitochondrial neurogastrointestinal encephalomyopathy syndrome; ; TYMP
 * Mitochondrial respiratory chain complex II deficiency; ; SDHA
 * Miyoshi muscular dystrophy 3; ; ANO5
 * Miyoshi myopathy; ; DYSF
 * MNGIE without leukoencephalopathy; ; POLG
 * MODY, type I; ; HNF4A
 * MODY, type II; ; GCK
 * MODY, type III; ; HNF1A
 * MODY, type IV; ; IPF1
 * Mohr–Tranebjærg syndrome; ; TIMM8A
 * Molybdenum cofactor deficiency, type A; ; MOCS1
 * Molybdenum cofactor deficiency, type B; ; MOCS2
 * Molybdenum cofactor deficiency, type C; ; GPHN
 * Monilethrix; ; KRT81
 * Monilethrix; ; KRT83
 * Monilethrix; ; KRT86
 * Mononeuropathy of the median nerve, mild; ; SH3TC2
 * Morning glory disc anomaly; ; PAX6
 * Morquio syndrome B; ; GLB1
 * Mosaic variegated aneuploidy syndrome; ; BUB1B
 * Mowat–Wilson syndrome; ; ZEB2
 * Muckle–Wells syndrome; ; NLRP3
 * Mucolipidosis II alpha/beta; ; GNPTAB
 * Mucolipidosis III alpha/beta; ; GNPTAB
 * Mucolipidosis III gamma; ; GNPTAG
 * Mucolipidosis IV; ; MCOLN1
 * Mucopolysaccharidosis Ih; ; IDUA
 * Mucopolysaccharidosis Ih/s; ; IDUA
 * Mucopolysaccharidosis Is; ; IDUA
 * Mucopolysaccharidosis IVA; ; GALNS
 * Mucopolysaccharidosis type IIID; ; GNS
 * Mucopolysaccharidosis type IX; ; HYAL1
 * Mucopolysaccharidosis VII; ; GUSB
 * Muenke syndrome; ; FGFR3
 * Muir–Torre syndrome; ; MLH1
 * Muir–Torre syndrome; ; MSH2
 * Mulibrey nanism; ; TRIM37
 * Müllerian 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; ; SELENON
 * Myasthenia, limb-girdle, familial; ; AGRN
 * Myasthenia, limb-girdle, familial; ; DOK7
 * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; CHRNB1
 * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; CHRNE
 * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; MUSK
 * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; RAPSN
 * Myasthenic syndrome, congenital, associated with episodic apnea; ; CHAT
 * Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency; ; RAPSN
 * Myasthenic syndrome, fast-channel congenital; ; CHRNA1
 * Myasthenic syndrome, fast-channel congenital; ; CHRND
 * Myasthenic syndrome, fast-channel congenital; ; CHRNE
 * Myasthenic syndrome, slow-channel congenital; ; CHRNA1
 * Myasthenic syndrome, slow-channel congenital; ; CHRNB1
 * Myasthenic syndrome, slow-channel congenital; ; CHRND
 * Myasthenic syndrome, slow-channel congenital; ; CHRNE
 * Mycobacterial infection, atypical, familial disseminated; ; IFNGR1
 * Mycobacterial infection, atypical, familial disseminated; ; STAT1
 * Myelofibrosis, idiopathic; ; JAK2
 * Myeloperoxidase deficiency; ; MPO
 * Myeloproliferative disorder with eosinophilia; ; PDGFRB
 * Myoclonic epilepsy, severe, of infancy; ; GABRG2
 * Myoglobinuria, acute recurrent, autosomal recessive; ; LPIN1
 * Myokymia with neonatal epilepsy; ; KCNQ2
 * Myopathy due to CPT II deficiency; ; CPT2
 * Myopathy with lactic acidosis, hereditary; ; ISCU
 * Myopathy, actin, congenital, with excess of thin myofilaments; ; ACTA1
 * Myopathy, cardioskeletal, desmin-related, with cataract; ; CRYAB
 * Myopathy, centronuclear; ; DNM2
 * Myopathy, centronuclear; ; MYF6
 * Myopathy, centronuclear, autosomal recessive; ; BIN1
 * Myopathy, congenital, Compton-North; ; CNTN1
 * Myopathy, congenital, with fiber-type disproportion 1; ; ACTA1
 * Myopathy, desmin-related, cardioskeletal; ; DES
 * Myopathy, distal 2; ; MATR3
 * Myopathy, distal, with anterior tibial onset; ; DYSF
 * Myopathy, early-onset, with fatal cardiomyopathy; ; TTN
 * Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; ; GFER
 * Myopathy, myofibrillar, BAG3-related; ; BAG3
 * Myopathy, myofibrillar, filamin C-related; ; FLNC
 * Myopathy, myofibrillar, ZASP-related; ; LDB3
 * Myopathy, myosin storage; ; MYH7
 * Myopathy, nemaline, 3; ; ACTA1
 * Myopathy, proximal, with early respiratory muscle involvement; ; TTN
 * Myopathy, reducing body, X-linked, childhood-onset; ; FHL1
 * Myopathy, reducing body, X-linked, severe early-onset; ; FHL1
 * Myopathy, spheroid body; ; TTID
 * Myopathy, X-linked, with postural muscle atrophy; ; FHL1
 * Myosclerosis, congenital; ; COL6A2
 * Myotilinopathy; ; TTID
 * Myotonia congenita, atypical, acetazolamide-responsive; ; SCN4A
 * Myotonia congenita, dominant; ; CLCN1
 * Myotonia congenita, recessive; ; CLCN1
 * Myotonic dystrophy; ; DMPK
 * Myotonic dystrophy, type 2; ; ZNF9
 * Myotubular myopathy, X-linked; ; MTM1
 * Myxoid liposarcoma; ; DDIT3
 * Myxoma, intracardiac; ; PRKAR1A
 * N syndrome; ; POLA
 * N-Acetylglutamate synthase deficiency; ; NAGS
 * Naegeli–Franceschetti–Jadassohn syndrome; ; KRT14
 * Nail–patella syndrome; ; LMX1B
 * Nance–Horan syndrome; ; NHS
 * Narcolepsy 1; ; HCRT
 * Nasopharyngeal carcinoma; ; TP53
 * Nasu–Hakola disease; ; TREM2
 * Nasu–Hakola disease; ; TYROBP
 * Naxos disease; ; JUP
 * Nemaline myopathy 1, autosomal dominant; ; TPM3
 * Nemaline myopathy 2, autosomal recessive; ; NEB
 * Nemaline myopathy 7; ; CFL2
 * Nemaline myopathy; ; TPM2
 * Nemaline myopathy, Amish type; ; TNNT1
 * Nephrogenic syndrome of inappropriate antidiuresis; ; AVPR2
 * Nephrolithiasis, type I; ; CLCN5
 * Nephrolithiasis/osteoporosis, hypophosphatemic, 1; ; SLC34A1
 * Nephrolithiasis/osteoporosis, hypophosphatemic, 2; ; SLC9A3R1
 * Nephronophthisis 1, juvenile; ; NPHP1
 * Nephronophthisis 2, infantile; ; INVS
 * Nephronophthisis 3; ; NPHP3
 * Nephronophthisis 4; ; NPHP4
 * Nephronophthisis 7; ; GLIS2
 * Nephropathy with pretibial epidermolysis bullosa and deafness; ; CD151
 * Nephrosis, congenital, with or without ocular abnormalities; ; LAMB2
 * Nephrotic syndrome, type 1; ; NPHS1
 * Nephrotic syndrome, type 2; ; PDCN
 * Nephrotic syndrome, type 3; ; PLCE1
 * Nephrotic syndrome, type 4; ; WT1
 * Netherton syndrome; ; SPINK5
 * Neural tube defect; ; VANGL1
 * Neuroblastoma; ; NME1
 * Neurodegeneration due to cerebral folate transport deficiency; ; FOLR1
 * Neurodegeneration with brain iron accumulation 1; ; PANK2
 * Neurodegeneration with brain iron accumulation 2B; ; PLA2G6
 * Neurodegeneration with brain iron accumulation 3; ; FTL
 * Neuroepithelioma; ; EWSR1
 * Neurofibromatosis, familial spinal; ; NF1
 * Neurofibromatosis type 1; ; NF1
 * Neurofibromatosis type 2; ; NF2
 * Neurofibromatosis-Noonan syndrome; ; NF1
 * Neuromuscular disease, congenital, with uniform type 1 fiber; ; RYR1
 * Neuronopathy, distal hereditary motor, type IIC; ; HSPB3
 * Neuronopathy, distal hereditary motor, type VI; ; IGHMBP2
 * Neuropathy, congenital hypomyelinating, 1; ; EGR2
 * Neuropathy, congenital hypomyelinating; ; MPZ
 * Neuropathy, distal hereditary motor, type IIA; ; HSPB8
 * Neuropathy, distal hereditary motor, type IIB; ; HSPB1
 * Neuropathy, distal hereditary motor, type V; ; BSCL2
 * Neuropathy, distal hereditary motor, type V; ; GARS
 * Neuropathy, distal hereditary motor, type VIIB; ; DCTN1
 * Neuropathy, hereditary sensory and autonomic, type 1; ; SPTLC1
 * Neuropathy, hereditary sensory and autonomic, type II; ; WNK1
 * Neuropathy, hereditary sensory and autonomic, type IIB; ; FAM134B
 * Neuropathy, hereditary sensory and autonomic, type V; ; NGFB
 * Neuropathy, hereditary sensory, with spastic paraplegia; ; CCT5
 * Neuropathy, hereditary sensory/autonomic, type IC; ; SPTLC2
 * Neuropathy, recurrent, with pressure palsies; ; PMP22
 * Neutral lipid storage disease with myopathy; ; PNPLA2
 * Neutropenia, nonimmune chronic idiopathic, of adults; ; GFI1
 * Neutropenia, severe congenital, autosomal dominant 1; ; ELANE
 * Neutropenia, severe congenital, autosomal dominant 2; ; GFI1
 * Neutropenia, severe congenital, autosomal recessive 3; ; HAX1
 * Neutropenia, severe congenital, autosomal recessive 4; ; G6PC3
 * Neutropenia, severe congenital, X-linked; ; WAS
 * Neutrophil immunodeficiency syndrome; ; RAC2
 * Neutrophilia, hereditary; ; CSF3R
 * Nevo syndrome; ; PLOD
 * Nevus, epidermal; ; PIK3CA
 * Nevus, epidermal, epidermolytic hyperkeratotic type; ; KRT10
 * Nevus, keratinocytic, nonepidermolytic; ; FGFR3
 * Newfoundland rod-cone dystrophy; ; RLBP1
 * Niemann–Pick disease, type A; ; SMPD1
 * Niemann–Pick disease, type B; ; SMPD1
 * Niemann–Pick disease, type C1; ; NPC1
 * Niemann–Pick disease, type C2; ; NPC2
 * Niemann–Pick disease type D; ; NPC1
 * Night blindness, congenital stationary, autosomal dominant 2; ; PDE6B
 * Night blindness, congenital stationary, autosomal dominant 3; ; GNAT1
 * Night blindness, congenital stationary, type 1; ; CSNB1
 * Night blindness, congenital stationary, type 1B; ; GRM6
 * Night blindness, congenital stationary, type 2B; ; CABP4
 * Night blindness, congenital stationary, type IC; ; TRPM1
 * Night blindness, congenital stationary, X-linked, type 2A; ; CACNA1F
 * Night blindness, congenital stationary, autosomal dominant 1; ; RHO
 * Nijmegen breakage syndrome; ; NBS1
 * Nijmegen breakage syndrome-like disorder; ; RAD50
 * Nonaka myopathy; ; GNE
 * Non-Hodgkin lymphoma, somatic; ; CASP10
 * Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in; ; EGFR
 * Nonsmall cell lung cancer, somatic; ; IRF1
 * Nonsmall cell lung cancer, somatic; ; PIK3CA
 * Noonan syndrome 1; ; PTPN11
 * Noonan syndrome 3; ; KRAS
 * Noonan syndrome 4; ; SOS1
 * Noonan syndrome 5; ; RAF1
 * Noonan syndrome 6; ; NRAS
 * Noonan-like syndrome with loose anagen hair; ; SHOC2
 * Norrie disease; ; NDP
 * Norum disease; ; LCAT
 * Nystagmus 1, congenital, X-linked; ; FRMD7
 * Nystagmus 6, congenital, X-linked; ; GPR143
 * Obesity with impaired prohormone processing; ; PCSK1
 * Obesity, adrenal insufficiency, and red hair due to POMC deficiency; ; POMC
 * Obesity, autosomal dominant; ; MC4R
 * Obesity, mild, early-onset; ; NR0B2
 * Obesity, severe; ; PPARG
 * Obesity, severe; ; SIM1
 * Occipital horn syndrome; ; ATP7A
 * Ocular albinism, type I, Nettleship-Falls type; ; GPR143
 * Oculoauricular syndrome; ; HMX1
 * Oculocutaneous albinism, type IV; ; SLC45A2
 * Oculodentodigital dysplasia; ; GJA1
 * Oculodentodigital dysplasia, autosomal recessive; ; GJA1
 * Oculopharyngeal muscular dystrophy; ; PABPN1
 * Odontohypophosphatasia; ; ALPL
 * Odontoonychodermal dysplasia; ; WNT10A
 * Ogden syndrome; ; NAA10
 * Oguchi disease-1; ; SAG
 * Oguchi disease-2; ; GRK1
 * OI type II; ; COL1A1
 * OI type III; ; COL1A1
 * OI type IV; ; COL1A1
 * Oligodontia-colorectal cancer syndrome; ; AXIN2
 * Omenn syndrome; ; DCLRE1C
 * Omenn syndrome; ; RAG1
 * Omenn syndrome; ; RAG2
 * Omodysplasia 1; ; GPC6
 * Opitz G syndrome, type I; ; MID1
 * Opitz–Kaveggia syndrome; ; MED12
 * Opremazole poor metabolizer; ; CYP2C
 * Optic atrophy 1; ; OPA1
 * Optic atrophy and cataract; ; OPA3
 * Optic atrophy and deafness; ; OPA1
 * Optic atrophy-7; ; TMEM126A
 * Optic nerve coloboma with renal disease; ; PAX2
 * Optic nerve hypoplasia and abnormalities of the central nervous system; ; SOX2
 * Optic nerve hypoplasia; ; PAX6
 * Oral-facial-digital syndrome 1; ; OFD1
 * Ornithine transcarbamylase deficiency; ; OTC
 * Orofacial cleft 11; ; BMP4
 * Orofacial cleft 5; ; MSX1
 * Orofacial cleft 6; ; IRF6
 * Orofacial cleft 7; ; HVEC
 * Orofacial cleft 8; ; TP63
 * Orthostatic intolerance; ; SLC6A2
 * Osseous heteroplasia, progressive; ; GNAS
 * Ossification of posterior longitudinal ligament of spine; ; ENPP1
 * Osteoarthritis with mild chondrodysplasia; ; COL2A1
 * Osteochondritis dissecans, short stature, and early-onset osteoarthritis; ; ACAN
 * Osteogenesis imperfecta, type I; ; COL1A1
 * Osteogenesis imperfecta, type II; ; COL1A2
 * Osteogenesis imperfecta, type IIB; ; CRTAP
 * Osteogenesis imperfecta, type III; ; COL1A2
 * Osteogenesis imperfecta, type IV; ; COL1A2
 * Osteogenesis imperfecta, type IX; ; PPIB
 * Osteogenesis imperfecta, type VI; ; FKBP10
 * Osteogenesis imperfecta, type VII; ; CRTAP
 * Osteogenesis imperfecta, type VIII; ; LEPRE1
 * Osteoglophonic dysplasia; ; FGFR1
 * Osteolysis, familial expansile; ; TNFRSF11A
 * Osteopathia striata with cranial sclerosis; ; FAM123B
 * Osteopetrosis, AD type I; ; LRP5
 * Osteopetrosis, autosomal dominant 2; ; CLCN7
 * Osteopetrosis, autosomal recessive 2; ; TNFSF11
 * Osteopetrosis, autosomal recessive 3, with renal tubular acidosis; ; CA2
 * Osteopetrosis, autosomal recessive 4; ; CLCN7
 * Osteopetrosis, autosomal recessive 5; ; OSTM1
 * Osteopetrosis, autosomal recessive 6; ; PLEKHM1
 * Osteopetrosis, autosomal recessive 7; ; TNFRSF11A
 * Osteopetrosis, recessive 1; ; TCIRG1
 * Osteopoikilosis; ; LEMD3
 * Osteoporosis, involutional; ; VDR
 * Osteoporosis-pseudoglioma syndrome; ; LRP5
 * Osteosarcoma; ; LOH18CR1
 * Osteosarcoma; ; RB1
 * Osteosarcoma; ; TP53
 * Osteosarcoma, somatic; ; CHEK2
 * Osteosclerosis; ; LRP5
 * Otofaciocervical syndrome; ; EYA1
 * Otopalatodigital syndrome, type I; ; FLNA
 * Otopalatodigital syndrome, type II; ; FLNA
 * Otospondylomegaepiphyseal dysplasia; ; COL11A2
 * Ovarian cancer; ; CTNNB1
 * Ovarian cancer, somatic; ; AKT1
 * Ovarian cancer, somatic; ; PIK3CA
 * Ovarian dysgenesis 1; ; FSHR
 * Ovarian dysgenesis 2; ; BMP15
 * Ovarian hyperstimulation syndrome; ; FSHR
 * Ovarian response to FSH stimulation; ; FSHR
 * Ovarioleukodystrophy; ; EIF2B2
 * Ovarioleukodystrophy; ; EIF2B4
 * Ovarioleukodystrophy; ; EIF2B5
 * Pachyonychia congenita Jackson Lawler type; ; KRT17
 * Pachyonychia congenita Jackson Lawler type; ; KRT6B
 * Pachyonychia congenita, Jadassohn-Lewandowsky type; ; KRT16
 * Pachyonychia congenita, Jadassohn-Lewandowsky type; ; KRT6A
 * Paget disease of bone; ; PDB4
 * Paget disease of bone; ; SQSTM1
 * Paget disease of bone; ; TNFRSF11A
 * Paget disease, juvenile; ; TNFRSF11B
 * Pallister–Hall syndrome; ; GLI3
 * Palmoplantar hyperkeratosis and true hermaphroditism; ; RSPO1
 * Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; ; RSPO1
 * Palmoplantar keratoderma, nonepidermolytic; ; KRT16
 * Palmoplantar keratoderma, nonepidermolytic, focal; ; KRT16
 * Palmoplantar verrucous nevus, unilateral; ; KRT16
 * Pancreatic agenesis; ; IPF1
 * Pancreatic cancer; ; TP53
 * Pancreatic cancer; ; BRCA2
 * Pancreatic cancer/melanoma syndrome; ; CDKN2A
 * Pancreatic carcinoma, somatic; ; KRAS
 * Pancreatitis, hereditary; ; PRSS1
 * Pancreatitis, hereditary; ; SPINK1
 * Panhypopituitarism, X-linked; ; SOX3
 * Papillon–Lefèvre syndrome; ; CTSC
 * Paraganglioma and gastric stromal sarcoma; ; SDHB
 * Paraganglioma and gastric stromal sarcoma; ; SDHC
 * Paraganglioma and gastric stromal sarcoma; ; SDHD
 * Paraganglioma, familial chromaffin, 4; ; SDHB
 * Paragangliomas 2; ; SDHAF2
 * Paragangliomas, familial nonchromaffin, 1, with or without deafness; ; SDHD
 * Paragangliomas, familial nonchromaffin, 3; ; SDHC
 * Paramyotonia congenita; ; SCN4A
 * Parathyroid adenoma with cystic changes; ; HRPT2
 * Parathyroid carcinoma; ; HRPT2
 * Parietal foramina 1; ; MSX2
 * Parietal foramina 2; ; ALX4
 * Parietal foramina with cleidocranial dysplasia; ; MSX2
 * Parkes Weber syndrome; ; RASA1
 * Parkinson disease 11; ; GIGYF2
 * Parkinson disease 13; ; HTRA2
 * Parkinson disease 15, autosomal recessive; ; FBXO7
 * Parkinson disease 4; ; SNCA
 * Parkinson disease 6, early onset; ; PINK1
 * Parkinson disease 7, autosomal recessive early-onset; ; DJ1
 * Parkinson disease 9; ; ATP13A2
 * Parkinson disease, juvenile, type 2; ; PRKN
 * Parkinson disease-8; ; LRRK2
 * Parkinsonism-dystonia, infantile; ; SLC6A3
 * Paroxysmal extreme pain disorder; ; SCN9A
 * Paroxysmal nocturnal hemoglobinuria, somatic; ; PIGA
 * Paroxysmal nonkinesigenic dyskinesia; ; MR1
 * Partington syndrome; ; ARX
 * PCWH syndrome; ; SOX10
 * Peeling skin syndrome, acral type; ; TGM5
 * Pelger–Huët anomaly; ; LBR
 * Pelizaeus–Merzbacher disease; ; PLP1
 * Pendred syndrome; ; SLC26A4
 * Pentosuria; ; DCXR
 * Periodic fever, familial; ; TNFRSF1A
 * Periodontitis, juvenile; ; CTSC
 * Periventricular heterotopia with microcephaly; ; ARFGEF2
 * Peroxisomal acyl-CoA oxidase deficiency; ; ACOX1
 * Perry syndrome; ; DCTN1
 * Persistent Müllerian duct syndrome, type I; ; AMH
 * Persistent Müllerian duct syndrome, type II; ; AMHR2
 * Persistent truncus arteriosus; ; NKX2-6
 * Peters anomaly; ; CYP1B1
 * Peters anomaly; ; PAX6
 * Peters anomaly; ; PITX2
 * Peters-plus syndrome; ; B3GALTL; B3GTL
 * Peutz–Jeghers syndrome; ; STK11
 * Pfeiffer syndrome; ; FGFR1
 * Pfeiffer syndrome; ; FGFR2
 * Phenylketonuria; ; PAH
 * Pheochromocytoma; ; KIF1B
 * Pheochromocytoma; ; RET
 * Pheochromocytoma; ; SDHB
 * Pheochromocytoma; ; SDHD
 * Pheochromocytoma; ; VHL
 * Phosphoglycerate dehydrogenase deficiency; ; PHGDH
 * Phosphoglycerate kinase 1 deficiency; ; PGK1
 * Phosphoribosylpyrophosphate synthetase superactivity; ; PRPS1
 * Phosphorylase kinase deficiency of liver and muscle, autosomal recessive; ; PHKB
 * Phosphoserine aminotransferase deficiency; ; PSAT1
 * Pick disease; ; MAPT
 * Pick disease; ; PSEN1
 * Piebaldism; ; SNAI2
 * Pierson syndrome; ; LAMB2
 * Pigmented adrenocortical disease, primary, 1; ; PRKAR1A
 * Pigmented nodular adrenocortical disease, primary, 2; ; PDE11A
 * Pigmented paravenous chorioretinal atrophy; ; CRB1
 * Pilomatricoma; ; CTNNB1
 * Pitt–Hopkins-like syndrome 1; ; CNTNAP2
 * Pitt–Hopkins syndrome; ; TCF4
 * Pituitary adenoma, ACTH-secreting; ; AIP
 * Pituitary adenoma, growth hormone-secreting; ; AIP
 * Pituitary adenoma, prolactin-secreting; ; AIP
 * Pituitary hormone deficiency, combined, 1; ; POU1F1
 * Pituitary hormone deficiency, combined, 2; ; PROP1
 * Pituitary hormone deficiency, combined, 3; ; LHX3
 * Pituitary hormone deficiency, combined, 4; ; LHX4
 * Pituitary hormone deficiency, combined, 5; ; HESX1
 * Plamoplantar keratoderma, epidermolytic; ; KRT1
 * Plasminogen activator inhibitor, type I; ; PAI1
 * Platelet disorder, familial, with associated myeloid malignancy; ; RUNX1
 * Platelet glycoprotein IV deficiency; ; CD36
 * Pleuropulmonary blastoma; ; DICER1
 * Pneumothorax, primary spontaneous; ; FLCN
 * Poikiloderma with neutropenia; ; C16orf57
 * Polycystic kidney and hepatic disease; ; FCYT
 * Polycystic kidney disease 2; ; PKD2
 * Polycystic kidney disease, adult type I; ; PKD1
 * Polycystic liver disease; ; PRKCSH
 * Polycystic liver disease; ; SEC63
 * Polycystic ovary syndrome; ; FST
 * Polycythemia vera; ; JAK2
 * Polycythemia, benign familial; ; VHL
 * Polydactyly, postaxial, types A1 and B; ; GLI3
 * Polydactyly, preaxial type II; ; LMBR1
 * Polydactyly, preaxial, type IV; ; GLI3
 * Polyhydramnios, megalencephaly, and symptomatic epilepsy; ; STRADA
 * Polymicrogyria with optic nerve hypoplasia; ; TUBA8
 * Polymicrogyria, asymmetric; ; TUBB2B
 * Polymicrogyria, bilateral frontoparietal; ; GPR56
 * Polyposis syndrome, hereditary mixed, 2; ; BMPR1A
 * Polyposis, juvenile intestinal; ; BMPR1A
 * Polyposis, juvenile intestinal; ; MADH4
 * Pontocerebellar hypoplasia type 1; ; VRK1
 * Pontocerebellar hypoplasia type 2A; ; TSEN54
 * Pontocerebellar hypoplasia type 2B; ; TSEN2
 * Pontocerebellar hypoplasia type 2C; ; TSEN34
 * Pontocerebellar hypoplasia type 4; ; TSEN54
 * Pontocerebellar hypoplasia, type 6; ; RARS2
 * Popliteal pterygium syndrome; ; IRF6
 * POR deficiency; ; POR
 * Porencephaly; ; COL4A1
 * Porokeratosis, disseminated superficial actinic, 1; ; SART3
 * Porphyria cutanea tarda; ; UROD
 * Porphyria variegata; ; PPOX
 * Porphyria, acute hepatic; ; ALAD
 * Porphyria, acute intermittent; ; HMBS
 * Porphyria, acute intermittent, nonerythroid variant; ; HMBS
 * Porphyria, congenital erythropoietic; ; UROS
 * Porphyria, hepatoerythropoietic; ; UROD
 * Prader–Willi syndrome; ; NDN
 * Prader–Willi syndrome; ; SNRPN
 * Precocious puberty, central; ; KISS1R
 * Precocious puberty, male; ; LHCGR
 * Premature chromosome condensation with microcephaly and mental retardation; ; MCPH1
 * Premature ovarian failure 2B; ; FLJ22792
 * Premature ovarian failure 3; ; FOXL2
 * Premature ovarian failure 4; ; BMP15
 * Premature ovarian failure 5; ; NOBOX
 * Premature ovarian failure 6; ; FIGLA
 * Premature ovarian failure 7; ; NR5A1
 * Premature ovarian failure; ; DIAPH2
 * Primary lateral sclerosis, juvenile; ; ALS2
 * Prion disease with protracted course; ; PRNP
 * Progesterone resistance; ; PGR
 * Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; ; SLC25A4
 * Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; ; C10orf2
 * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; ; POLG2
 * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5; ; RRM2B
 * Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadism; ; POLG
 * Progressive external ophthalmoplegia, autosomal recessive; ; POLG
 * Progressive familial heart block, type IB; ; TRPM4
 * Proguanil poor metabolizer; ; CYP2C
 * Prolidase deficiency; ; PEPD
 * Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome; ; FLVCR2
 * Properdin deficiency, X-linked; ; PFC
 * Propionicacidemia; ; PCCA
 * Propionicacidemia; ; PCCB
 * Prostate cancer 1, 176807; ; RNASEL
 * Prostate cancer; ; BRCA2
 * Prostate cancer, hereditary; ; MSR1
 * Prostate cancer, progression and metastasis of; ; EPHB2
 * Prostate cancer, somatic; ; KLF6
 * Prostate cancer, somatic; ; MAD1L1
 * Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; ; CLCN5
 * Protoporphyria, erythropoietic, autosomal dominant; ; FECH
 * Protoporphyria, erythropoietic, autosomal recessive; ; FECH
 * Protoporphyria, erythropoietic, X-linked dominant; ; ALAS2
 * Proud syndrome; ; ARX
 * Pseudoachondroplasia; ; COMP
 * Pseudohermaphroditism, male, with gynecomastia; ; HSD17B3
 * Pseudohyperkalemia, familial; ; PIEZO1
 * Pseudohypoaldosteronism type I, autosomal dominant; ; NR3C2
 * Pseudohypoaldosteronism type II; ; WNK4
 * Pseudohypoaldosteronism, type I; ; SCNN1A
 * Pseudohypoaldosteronism, type I; ; SCNN1B
 * Pseudohypoaldosteronism, type I; ; SCNN1G
 * Pseudohypoaldosteronism, type IIC; ; WNK1
 * Pseudohypoparathyroidism Ia; ; GNAS
 * Pseudohypoparathyroidism Ib; ; GNAS
 * Pseudohypoparathyroidism Ic; ; GNAS
 * Pseudohypoparathyroidism, type IB; ; GNASAS
 * Pseudohypoparathyroidism, type IB; ; STX16
 * Pseudovaginal perineoscrotal hypospadias; ; SRD5A2
 * Pseudoxanthoma elasticum; ; ABCC6
 * Pseudoxanthoma elasticum, forme fruste; ; ABCC6
 * Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; ; GGCX
 * Ptosis, congenital; ; ZFHX4
 * Pulmonary alveolar microlithiasis; ; SLC34A2
 * Pulmonary alveolar proteinosis; ; CSF2RA
 * Pulmonary fibrosis, idiopathic; ; SFTPA2
 * Pulmonary hypertension, familial primary; ; BMPR2
 * Pulmonary hypertension, primary; ; MADH9
 * Pulmonary hypertension, primary, fenfluramine-associated; ; BMPR2
 * Pulmonary veno occlusive disease; ; BMPR2
 * Pycnodysostosis; ; CTSK
 * Pyogenic bacterial infections, recurrent, due to MYD88 deficiency; ; MYD88
 * Pyogenic sterile arthritis, pyoderma gangrenosum, and acne; ; PSTPIP1
 * Pyridoxamine 5'-phosphate oxidase deficiency; ; PNPO
 * Pyropoikilocytosis; ; SPTA1
 * Pyruvate carboxylase deficiency; ; PC
 * Pyruvate dehydrogenase deficiency; ; PDHA1
 * Pyruvate dehydrogenase E2 deficiency; ; DLAT
 * Pyruvate dehydrogenase phosphatase deficiency; ; PDP1
 * Pyruvate kinase deficiency; ; PKLR
 * Rabson–Mendenhall syndrome; ; INSR
 * Radioulnar synostosis with amegakaryocytic thrombocytopenia; ; HOXA11
 * Raine syndrome; ; FAM20C
 * RAPADILINO syndrome; ; RECQL4
 * Rapp–Hodgkin syndrome; ; TP63
 * Recombination rate QTL 1; ; RNF212
 * Refsum disease; ; PEX7
 * Refsum disease; ; PHYH
 * Refsum disease, infantile form; ; PEX26
 * Refsum disease, infantile form; ; PXMP3
 * Refsum disease, infantile; ; PEX1
 * Renal adysplasia; ; UPK3A
 * Renal agenesis; ; RET
 * Renal carcinoma, chromophobe, somatic; ; FLCN
 * Renal cell carcinoma; ; DIRC2
 * Renal cell carcinoma; ; HNF1A
 * Renal cell carcinoma; ; RNF139
 * Renal cell carcinoma, clear cell, somatic; ; OGG1
 * Renal cell carcinoma, papillary, 1; ; PRCC
 * Renal cell carcinoma, papillary, 1; ; TFE3
 * Renal cell carcinoma, papillary, familial and sporadic; ; MET
 * Renal cell carcinoma, somatic; ; VHL
 * Renal cysts and diabetes syndrome; ; HNF1B
 * Renal glucosuria; ; SLC5A2
 * Renal tubular acidosis with deafness; ; ATP6B1
 * Renal tubular acidosis, distal, AD; ; SLC4A1
 * Renal tubular acidosis, distal, AR; ; SLC4A1
 * Renal tubular acidosis, distal, autosomal recessive; ; ATP6V0A4
 * Renal tubular acidosis, proximal, with ocular abnormalities; ; SLC4A4
 * Renal tubular dysgenesis; ; ACE
 * Renal tubular dysgenesis; ; AGT
 * Renal tubular dysgenesis; ; AGTR1
 * Renal tubular dysgenesis; ; REN
 * Renal-hepatic-pancreatic dysplasia; ; NPHP3
 * Renpenning syndrome; ; PQBP1
 * Restrictive dermopathy, lethal; ; ZMPSTE24
 * Reticular dysgenesis; ; AK2
 * Retinal cone dystrophy 3; ; PDE6H
 * Retinal cone dystrophy 3B; ; KCNV2
 * Retinal cone dystrophy 4; ; CACNA2D4
 * Retinal degeneration, late-onset, autosomal dominant; ; C1QTNF5
 * Retinal dystrophy, early-onset severe; ; ABCA4
 * Retinal dystrophy, early-onset severe; ; LRAT
 * Retinitis pigmentosa 33; ; SNRNP200
 * Retinitis pigmentosa 51; ; TTC8
 * Retinitis pigmentosa 54; ; C2orf71
 * Retinitis pigmentosa 55; ; ARL6
 * Retinitis pigmentosa 58; ; ZNF513
 * Retinitis pigmentosa, concentric; ; BEST1
 * Retinitis pigmentosa, digenic; ; PRPH2
 * Retinitis pigmentosa, juvenile; ; LRAT
 * Retinitis pigmentosa, juvenile, autosomal recessive; ; SPATA7
 * Retinitis pigmentosa, late-onset dominant; ; CRX
 * Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; ; RPGR
 * Retinitis pigmentosa-1; ; RP1
 * Retinitis pigmentosa-10; ; IMPDH1
 * Retinitis pigmentosa-11; ; PRPF31
 * Retinitis pigmentosa-12, autosomal recessive; ; CRB1
 * Retinitis pigmentosa-13; ; PRPF8
 * Retinitis pigmentosa-14; ; TULP1
 * Retinitis pigmentosa-17; ; CA4
 * Retinitis pigmentosa-18; ; HPRP3
 * Retinitis pigmentosa-19; ; ABCA4
 * Retinitis pigmentosa-2; ; RP2
 * Retinitis pigmentosa-25; ; EYS
 * Retinitis pigmentosa-26; ; CERKL
 * Retinitis pigmentosa-3; ; RPGR
 * Retinitis pigmentosa-30; ; FSCN2
 * Retinitis pigmentosa-31; ; TOPORS
 * Retinitis pigmentosa-35; ; SEMA4A
 * Retinitis pigmentosa-36; ; PRCD
 * Retinitis pigmentosa-37; ; NR2E3
 * Retinitis pigmentosa-38; ; MERTK
 * Retinitis pigmentosa-39; ; USH2A
 * Retinitis pigmentosa-41; ; PROM1
 * Retinitis pigmentosa-42; ; KLHL7
 * Retinitis pigmentosa-45; ; CNGB1
 * Retinitis pigmentosa-50; ; BEST1
 * Retinitis pigmentosa-7; ; PRPH2
 * Retinitis pigmentosa-9; ; RP9
 * Retinitis punctata albescens; ; PRPH2
 * Retinitis punctata albescens; ; RLBP1
 * Retinopathy of prematurity; ; FZD4
 * Rett syndrome; ; MECP2
 * Rett syndrome, congenital variant; ; FOXG1B
 * Rett syndrome, preserved speech variant; ; MECP2
 * Revesz syndrome; ; TINF2
 * Reynolds syndrome; ; LBR
 * Rhabdoid predisposition syndrome 1; ; SMARCB1
 * Rhabdoid tumor predisposition syndrome 2; ; SMARCA4
 * Rhabdomyosarcoma 2, alveolar; ; PAX3
 * Rhabdomyosarcoma 2, alveolar; ; PAX7
 * Rhabdomyosarcoma; ; SLC22A1L
 * Rhabdomyosarcoma, alveolar; ; FOXO1A
 * Rhizomelic chondrodysplasia punctata type 1; ; PEX7
 * Rhizomelic chondrodysplasia punctata type 3; ; AGPS
 * Ribose-5-phosphate isomerase deficiency; ; RPIA
 * Rickets due to defect in vitamin D 25-hydroxylation; ; CYP2R1
 * Rickets, vitamin D-resistant, type IIA; ; VDR
 * RIDDLE syndrome; ; RNF168
 * Rieger or Axenfeld anomalies; ; FOXC1
 * Ring dermoid of cornea; ; PITX2
 * Rippling muscle disease; ; CAV3
 * Rippling muscle disease-1; ; RMD1
 * Roberts syndrome; ; ESCO2
 * Robinow syndrome, autosomal recessive; ; ROR2
 * Rolandic epilepsy, mental retardation, and speech dyspraxia; ; SRPX2
 * Rothmund–Thomson syndrome; ; RECQL4
 * Roussy–Lévy syndrome; ; MPZ
 * Roussy–Lévy syndrome; ; PMP22
 * Rubenstein-Taybi syndrome; ; CREBBP
 * Rubinstein–Taybi syndrome; ; EP300
 * Saccharopinuria; ; AASS
 * Saethre–Chotzen syndrome with eyelid anomalies; ; TWIST1
 * Saethre–Chotzen syndrome; ; FGFR2
 * Saethre–Chotzen syndrome; ; TWIST1
 * Salla disease; ; SLC17A5
 * Sandhoff disease, infantile, juvenile, and adult forms; ; HEXB
 * Sanfilippo syndrome, type A; ; SGSH
 * Sanfilippo syndrome, type B; ; NAGLU
 * Sanfilippo syndrome, type C; ; HGSNAT
 * Sarcoidosis, early-onset; ; NOD2
 * SC phocomelia syndrome; ; ESCO2
 * Scapuloperoneal myopathy, X-linked dominant; ; FHL1
 * Scapuloperoneal spinal muscular atrophy; ; TRPV4
 * Scapuloperoneal syndrome, myopathic type; ; MYH7
 * Scapuloperoneal syndrome, neurogenic, Kaeser type; ; DES
 * Schimke immunoosseous dysplasia; ; SMARCAL1
 * Schindler disease, type I; ; NAGA
 * Schindler disease, type III; ; NAGA
 * Schinzel–Giedion midface retraction syndrome; ; SETBP1
 * Schizencephaly; ; EMX2
 * Schizophrenia; ; DISC2
 * Schneckenbecken dysplasia; ; SLC35D1
 * Schöpf–Schulz–Passarge syndrome; ; WNT10A
 * Schwannomatosis; ; NF2
 * Schwartz–Jampel syndrome, type 1; ; HSPG2
 * Sclerosteosis; ; SOST
 * Sea-blue histiocyte disease; ; APOE
 * Sebastian syndrome; ; MYH9
 * Seborrhea-like dermatitis with psoriasiform elements; ; ZNF750
 * Seckel syndrome 1; ; ATR
 * SED congenita; ; COL2A1
 * Segawa syndrome, recessive; ; TH
 * Self-healing collodion baby; ; TGM1
 * SEMD, Pakistani type; ; PAPSS2
 * Senior–Loken syndrome 4; ; NPHP4
 * Senior–Loken syndrome 5; ; IQCB1
 * Senior–Loken syndrome 6; ; CEP290
 * Senior–Loken syndrome-1; ; NPHP1
 * Sensorineural deafness with mild renal dysfunction; ; BSND
 * Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; ; POLG
 * Septo-optic dysplasia; ; HESX1
 * SERKAL syndrome; ; WNT4
 * Sertoli cell-only syndrome; ; ZNF148
 * SESAME syndrome; ; KCNJ10
 * Severe combined immunodeficiency due to ADA deficiency; ; ADA
 * Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; ; NHEJ1
 * Severe combined immunodeficiency, Athabascan type; ; DCLRE1C
 * Severe combined immunodeficiency, B cell-negative; ; RAG1
 * Severe combined immunodeficiency, B cell-negative; ; RAG2
 * Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; ; CD3D
 * Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; ; CD3E
 * Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; ; PTPRC
 * Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type; ; IL7R
 * Severe combined immunodeficiency, X-linked; ; IL2RG
 * Short QT syndrome-1; ; KCNH2
 * Short QT syndrome-2; ; KCNQ1
 * Short QT syndrome-3; ; KCNJ2
 * Short rib-polydactyly syndrome, type III; ; DYNC2H1
 * Short stature; ; GHSR
 * Short stature, idiopathic familial; ; SHOX
 * Short stature, idiopathic familial; ; SHOXY
 * Short stature, idiopathic; ; GHR
 * Shprintzen–Goldberg syndrome; ; FBN1
 * Shwachman–Bodian–Diamond syndrome; ; SBDS
 * Sialic acid storage disorder, infantile; ; SLC17A5
 * Sialidosis, type I; ; NEU1
 * Sialidosis, type II; ; NEU1
 * Sialuria; ; GNE
 * Sick sinus syndrome 1; ; SCN5A
 * Sick sinus syndrome 2; ; HCN4
 * Sickle cell anemia; ; HBB
 * Silver spastic paraplegia syndrome; ; BSCL2
 * Silver–Russell syndrome; ; H19
 * Simpson-Golabi-Behmel syndrome, type 1; ; GPC3
 * Simpson-Golabi-Behmel syndrome, type 2; ; OFD1
 * Sitosterolemia; ; ABCG5
 * Sitosterolemia; ; ABCG8
 * Sjögren–Larsson syndrome; ; ALDH3A2
 * Skeletal defects, genital hypoplasia, and mental retardation; ; ZBTB16
 * Skin fragility-woolly hair syndrome; ; DSP
 * Skin/hair/eye pigmentation 9, dark/light hair; ; ASIP
 * Slowed nerve conduction velocity, AD; ; ARHGEF10
 * Small patella syndrome; ; TBX4
 * SMED, Strudwick type; ; COL2A1
 * Smith–Lemli–Opitz syndrome; ; DHCR7
 * Smith–Magenis syndrome; ; RAI1
 * Smith–McCort dysplasia; ; DYM
 * Snowflake vitreoretinal degeneration; ; KCNJ13
 * Solitary median maxillary central incisor; ; SHH
 * Somatostatin analog, resistance to; ; SSTR5
 * Sorsby fundus dystrophy; ; TIMP3
 * Sotos syndrome; ; NSD1
 * Spastic ataxia, Charlevoix-Saguenay type; ; SACS
 * Spastic paralysis, infantile onset ascending; ; ALS2
 * Spastic paraplegia 10; ; KIF5A
 * Spastic paraplegia 15; ; ZFYVE26
 * Spastic paraplegia 31; ; REEP1
 * Spastic paraplegia 33; ; ZFYVE27
 * Spastic paraplegia 39; ; PNPLA6
 * Spastic paraplegia, 44; ; GJC2
 * Spastic paraplegia-11; ; SPG11
 * Spastic paraplegia-13; ; HSPD1
 * Spastic paraplegia-2; ; PLP1
 * Spastic paraplegia-3A; ; SPG3A
 * Spastic paraplegia-4; ; SPAST
 * Spastic paraplegia-42; ; SLC33A1
 * Spastic paraplegia-5A; ; CYP7B1
 * Spastic paraplegia-6; ; NIPA1
 * Spastic paraplegia-7; ; PGN
 * Spastic paraplegia-8; ; KIAA0196
 * Specific granule deficiency; ; CEBPE
 * Speech-language disorder-1; ; FOXP2
 * Spherocytosis, hereditary, type 5; ; EPB42
 * Spherocytosis, type 1; ; ANK1
 * Spherocytosis, type 3; ; SPTA1
 * Spherocytosis, type 4; ; SLC4A1
 * Spinal and bulbar muscular atrophy of Kennedy; ; AR
 * Spinal muscular atrophy, distal, autosomal recessive, 4; ; PLEKHG5
 * Spinal muscular atrophy, distal, X-linked 3; ; ATP7A
 * Spinal muscular atrophy, late-onset, Finkel type; ; VAPB
 * Spinal muscular atrophy, X-linked 2, infantile; ; UBE1
 * Spinal muscular atrophy-1; ; SMN1
 * Spinal muscular atrophy-2; ; SMN1
 * Spinal muscular atrophy-3; ; SMN1
 * Spinal muscular atrophy-4; ; SMN1
 * Spinocerebellar ataxia 12; ; PPP2R2B
 * Spinocerebellar ataxia 14; ; PRKCG
 * Spinocerebellar ataxia 15; ; ITPR1
 * Spinocerebellar ataxia 17; ; TBP
 * Spinocerebellar ataxia 28; ; AFG3L2
 * Spinocerebellar ataxia 31; ; BEAN
 * Spinocerebellar ataxia 8; ; ATXN8OS
 * Spinocerebellar ataxia 8; ; ATXN8
 * Spinocerebellar ataxia with epilepsy; ; POLG
 * Spinocerebellar ataxia, autosomal recessive 5; ; ZNF592
 * Spinocerebellar ataxia, autosomal recessive 8; ; SYNE1
 * Spinocerebellar ataxia, autosomal recessive 9; ; CABC1
 * Spinocerebellar ataxia, autosomal recessive with axonal neuropathy; ; TDP1
 * Spinocerebellar ataxia, infantile-onset; ; C10orf2
 * Spinocerebellar ataxia-1; ; ATXN1
 * Spinocerebellar ataxia-10; ; ATXN10
 * Spinocerebellar ataxia-11; ; TTBK2
 * Spinocerebellar ataxia-13; ; KCNC3
 * Spinocerebellar ataxia-2; ; ATXN2
 * Spinocerebellar ataxia-27; ; FGF14
 * Spinocerebellar ataxia-5; ; SPTBN2
 * Spinocerebellar ataxia-6; ; CACNA1A
 * Spinocerebellar ataxia-7; ; ATXN7
 * Split-hand/foot malformation 6; ; WNT10B
 * Split-hand/foot malformation, type 4; ; TP63
 * Spondylocarpotarsal synostosis syndrome; ; FLNB
 * Spondylocheirodysplasia, Ehlers-Danlos syndrome-like; ; SLC39A13
 * Spondylocostal dysostosis, autosomal recessive 2; ; MESP2
 * Spondylocostal dysostosis, autosomal recessive 3; ; LFNG
 * Spondylocostal dysostosis, autosomal recessive, 1; ; DLL3
 * Spondylocostal dystostosis 4, autosomal dominant; ; GDF6
 * Spondyloepimetaphyseal dysplasia; ; MATN3
 * Spondyloepimetaphyseal dysplasia, aggrecan type; ; ACAN
 * Spondyloepimetaphyseal dysplasia, Missouri type; ; MMP13
 * Spondyloepiphyseal dysplasia tarda with progressive arthropathy; ; WISP3
 * Spondyloepiphyseal dysplasia tarda; ; TRAPPC2
 * Spondyloepiphyseal dysplasia with congenital joint dislocations; ; CHST3
 * Spondyloepiphyseal dysplasia, Kimberley type; ; ACAN
 * Spondylo-megaepiphyseal-metaphyseal dysplasia; ; NKX3-2
 * Spondylometaepiphyseal dysplasia, short limb-hand type; ; DDR2
 * Spondylometaphyseal dysplasia, Kozlowski type; ; TRPV4
 * Spondyloperipheral dysplasia; ; COL2A1
 * Squamous cell carcinoma, head and neck; ; ING1
 * Squamous cell carcinoma, head and neck; ; TNFRSF10B
 * Stapes ankylosis with broad thumb and toes; ; NOG
 * STAR syndrome; ; FAM58A
 * Stargardt disease 3; ; ELOVL4
 * Stargardt disease 4; ; PROM1
 * Stargardt disease-1; ; ABCA4
 * Startle disease/hyperekplexia, autosomal dominant; ; GLRA1
 * Steatocystoma multiplex; ; KRT17
 * Stickler syndrome, type I; ; COL2A1
 * Stickler syndrome, type II; ; COL11A1
 * Stickler syndrome, type III; ; COL11A2
 * Stiff skin syndrome; ; FBN1
 * Stocco dos Santos X-linked mental retardation syndrome; ; SHROOM4
 * Stomach cancer; ; KRAS
 * Stomatocytosis I; ; EPB72
 * Striatal degeneration, autosomal dominant; ; PDE8B
 * Striatonigral degeneration, infantile; ; NUP62
 * Stuve–Wiedemann syndrome/Schwartz–Jampel type 2 syndrome; ; LIFR
 * Subcortical laminal heteropia, X-linked; ; DCX
 * Succinic semialdehyde dehydrogenase deficiency; ; ALDH5A1
 * 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 severe 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
 * VEXAS; ; UBA1
 * Vitamin D-dependent rickets, type I; ; CYP27B1
 * Vitamin K-dependent clotting factors, combined deficiency of, 2; ; VKORC1
 * Vitamin K-dependent coagulation defect; ; GGCX
 * Vitelliform macular dystrophy, adult-onset; ; BEST1
 * Vitreoretinochoroidopathy; ; BEST1
 * VLCAD deficiency; ; ACADVL
 * Vohwinkel syndrome with ichthyosis; ; LOR
 * Vohwinkel syndrome; ; GJB2
 * von Hippel–Lindau disease, modification of; ; CCND1
 * von Hippel–Lindau syndrome; ; VHL
 * von Willebrand disease, autosomal dominant; ; VWF
 * von Willebrand disease, autosomal recessive; ; VWF
 * von Willebrand disease, platelet-type; ; GP1BA
 * Waardenburg syndrome type 1; ; PAX3
 * Waardenburg syndrome type 2D; ; SNAI2
 * Waardenburg syndrome type 2E, with or without neurologic involvement; ; SOX10
 * Waardenburg syndrome type 3; ; PAX3
 * Waardenburg syndrome type 4A; ; EDNRB
 * Waardenburg syndrome type 4B; ; EDN3
 * Waardenburg syndrome type 4C; ; SOX10
 * Waardenburg syndrome type IIA; ; MITF
 * Waardenburg syndrome/albinism, digenic; ; TYR
 * Waardenburg syndrome/ocular albinism, digenic; ; MITF
 * Wagner syndrome 1; ; VCAN
 * Warburg micro syndrome 1; ; RAB3GAP1
 * Warfarin resistance; ; VKORC1
 * Warfarin sensitivity; ; CYP2C9
 * Warsaw breakage syndrome; ; DDX11
 * Watson syndrome; ; NF1
 * Weaver syndrome; ; NSD1
 * Weill–Marchesani syndrome, dominant; ; FBN1
 * Weill–Marchesani syndrome, recessive; ; ADAMTS10
 * Weill–Marchesani-like syndrome; ; ADAMTS17
 * Weissenbacher–Zweymüller syndrome; ; COL11A2
 * Werner syndrome; ; RECQL2
 * Weyers acrodental dysostosis; ; EVC
 * WHIM syndrome; ; CXCR4
 * White sponge nevus; ; KRT13
 * White sponge nevus; ; KRT4
 * Wilms' tumor 2; ; H19
 * Wilms' tumor; ; BRCA2
 * Wilms' tumor, somatic; ; GPC3
 * Wilms' tumor, type 1; ; WT1
 * Wilson's disease; ; ATP7B
 * Wiskott–Aldrich syndrome; ; WAS
 * Witkop syndrome; ; MSX1
 * Wolcott–Rallison syndrome; ; EIF2AK3
 * Wolff–Parkinson–White syndrome; ; PRKAG2
 * Wolfram syndrome 2; ; CISD2
 * Wolfram syndrome; ; WFS1
 * Wolfram-like syndrome, autosomal dominant; ; WFS1
 * Wolman disease; ; LIPA
 * Woodhouse–Sakati syndrome; ; C2orf37
 * Woolly hair, autosomal dominant; ; KRT74
 * Woolly hair, autosomal recessive 1; ; P2RY5
 * Woolly hair, autosomal recessive 2 with or without hypotrichosis; ; LIPH
 * Wrinkly skin syndrome; ; ATP6V0A2
 * Xanthinuria, type I; ; XDH
 * Xeroderma pigmentosum group A; ; XPA
 * Xeroderma pigmentosum group B; ; ERCC3
 * Xeroderma pigmentosum group C; ; XPC
 * Xeroderma pigmentosum group D; ; ERCC2
 * Xeroderma pigmentosum group E, DDB-negative subtype; ; DDB2
 * Xeroderma pigmentosum group F; ; ERCC4
 * Xeroderma pigmentosum group G; ; ERCC5
 * Xeroderma pigmentosum, variant type; ; POLH
 * XFE progeroid syndrome; ; ERCC4
 * X-inactivation, familial skewed; ; XIC
 * Zellweger syndrome; ; PEX10
 * Zellweger syndrome; ; PEX13
 * Zellweger syndrome; ; PEX14
 * Zellweger syndrome; ; PEX26
 * Zellweger syndrome; ; PEX5
 * Zellweger syndrome; ; PXF
 * Zellweger syndrome, complementation group G; ; PEX3
 * Zellweger syndrome-1; ; PEX1