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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク List of OMIM disorder codes ： ウィキペディア英語版 List of OMIM disorder codes This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information. * Isolated 17,20-lyase deficiency; ; CYP17A1 * 17-alpha-hydroxylase/17,20-lyase deficiency; ; CYP17A1 * 17-beta-hydroxysteroid dehydrogenase X deficiency; ; HSD17B10 * 2-methylbutyrylglycinuria; ; ACADSB * 3-hydroxyacyl-coa dehydrogenase deficiency; ; HADHSC * 3-hydroxyisobutryl-CoA hydrolase deficiency; ; HIBCH * 3-M syndrome; ; CUL7 * 3-Methylcrotonyl-CoA carboxylase 1 deficiency; ; MCCC1 * 3-Methylcrotonyl-CoA carboxylase 2 deficiency; ; MCCC2 * 3-Methylglutaconic aciduria type I; ; AUH * 3-Methylglutaconic aciduria type III; ; OPA3 * 3-Methylglutaconic aciduria type V; ; DNAJC19 * 46XX true hermaphroditism; ; SRY * 46XY complete gonadal dysgenesis; ; DHH * 46XY complete gonadal dysgenesis; ; SRY * 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure; ; NR5A1 * 46XY gonadal dysgenesis, complete, CBS2-related; ; CBX2 * 46XY partial gonadal dysgenesis, with minifascicular neuropathy; ; DHH * 5-fluorouracil toxicity; ; DPYD * 6-mercaptopurine sensitivity; ; TPMT * Aarskog-Scott syndrome; ; FGD1 * ABCD syndrome; ; EDNRB * Abetalipoproteinemia; ; MTP * ACAD9 deficiency; ; ACAD9 * Acampomelic campomelic dysplasia; ; SOX9 * Achalasia-Addisonianism-Alacrimia syndrome; ; AAAS * Acheiropody; ; LMBR1 * Achondrogenesis Ib; ; SLC26A2 * Achondrogenesis type 1A; ; TRIP11 * Achondrogenesis-hypochondrogenesis type 2; ; COL2A1 * Achondroplasia; ; FGFR3 * Achromatopsia-2; ; CNGA3 * Achromatopsia-3; ; CNGB3 * Acrocallosal syndrome; ; GLI3 * Acrocapitofemoral dysplasia; ; IHH * Acrodermatitis enteropathica; ; SLC39A4 * Acrokeratosis verruciformis; ; ATP2A2 * Acromesomelic dysplasia, Hunter-Thompson type; ; GDF5 * Acromesomelic dysplasia, Maroteaux type; ; NPR2 * Action myoclonus-renal failure syndrome; ; SCARB2 * Acyl-CoA dehydrogenase, long chain, deficiency of; ; ACADL * Acyl-CoA dehydrogenase, medium chain, deficiency of; ; ACADM * Acyl-CoA dehydrogenase, short chain, deficiency of; ; ACADS * Adenocarcinoma of lung, response to tyrosine kinase inhibitor in; ; EGFR * Adenocarcinoma of lung, somatic; ; BRAF * Adenocarcinoma of lung, somatic; ; ERBB2 * Adenocarcinoma of lung, somatic; ; PRKN * Adenocarcinoma, ovarian, somatic; ; PRKN * Adenomas, multiple colorectal; ; MUTYH * Adenomas, salivary gland pleomorphic; ; PLAG1 * Adenomatous polyposis coli; ; APC * Adenosine deaminase deficiency, partial; ; ADA * Adenosine triphosphate, elevated, of erythrocytes; ; PKLR * Adenylosuccinase deficiency; ; ADSL * Adiponectin deficiency; ; ADIPOQ * Adrenal cortical carcinoma; ; TP53 * Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; ; CYP11B1 * Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency; ; POR * Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; ; DAX1 * Adrenocorticotropic hormone deficiency; ; TBS19 * Adrenoleukodystrophy; ; ABCD1 * Adrenoleukodystrophy, neonatal; ; PEX1 * Adrenoleukodystrophy, neonatal; ; PEX10 * Adrenoleukodystrophy, neonatal; ; PEX13 * Adrenoleukodystrophy, neonatal; ; PEX26 * Adrenoleukodystrophy, neonatal; ; PEX5 * Adrenomyeloneuropathy; ; ABCD1 * Adult i phenotype with congenital cataract; ; GCNT2 * Adult i phenotype without cataract; ; GCNT2 * ADULT syndrome; ; TP63 * Advanced sleep phase syndrome, familial; ; PER2 * Afibrinogenemia, congenital; ; FGA * Afibrinogenemia, congenital; ; FGB * Agammaglobulinemia 1; ; IGHM * Agammaglobulinemia 2; ; IGLL1 * Agammaglobulinemia 4; ; BLNK * Agammaglobulinemia 5; ; LRRC8A * Agammaglobulinemia and isolated hormone deficiency; ; BTK * Agammaglobulinemia, type 1, X-linked; ; BTK * AGAT deficiency; ; GATM * Agenesis of the corpus callosum with peripheral neuropathy; ; SLC12A6 * Aicardi-Goutieres syndrome 1, dominant and recessive; ; TREX1 * Aicardi-Goutieres syndrome 2; ; RNASEH2B * Aicardi-Goutieres syndrome 3; ; RNASEH2C * Aicardi-Goutieres syndrome 4; ; RNASEH2A * Aicardi-Goutieres syndrome 5; ; SAMHD1 * AICA-ribosiduria due to ATIC deficiency; ; ATIC * Alagille syndrome 2; ; NOTCH2 * Alagille syndrome; ; JAG1 * Aland Island eye disease; ; CACNA1F * Albinism, brown oculocutaneous; ; OCA2 * Albinism, brown; ; TYRP1 * Albinism, oculocutaneous, type IA; ; TYR * Albinism, oculocutaneous, type IB; ; TYR * Albinism, oculocutaneous, type II; ; OCA2 * Albinism, rufous; ; TYRP1 * Alcohol sensitivity, acute; ; ALDH2 * Aldosteronism, glucocorticoid-remediable; ; CYP11B1 * Alexander disease; ; GFAP * Alexander disease; ; NDUFV1 * Alkaptonuria; ; HGD * Allan-Herndon-Dudley syndrome; ; SLC16A2 * Alopecia universalis; ; HR * Alopecia, neurologic defects, and endocrinopathy syndrome; ; RBM28 * Alpers syndrome; ; POLG * Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; ; RAG1 * Alpha-2-plasmin inhibitor deficiency; ; PLI * Alpha-ketoglutarate dehydrogenase deficiency; ; OGDH * Alpha-methylacetoacetic aciduria; ; ACAT1 * Alpha-thalassemia myelodysplasia syndrome, somatic; ; ATRX * Alpha-thalassemia mental retardation syndrome; ; ATRX * Alport syndrome; ; COL4A5 * Alport syndrome, autosomal recessive; ; COL4A3 * Alport syndrome, autosomal recessive; ; COL4A4 * Alstrom syndrome; ; ALMS1 * Alternating hemiplegia of childhood; ; ATP1A2 * Alveolar capillary dysplasia with misalignment of pulmonary veins; ; FOXF1 * Alveolar soft part sarcoma; ; ASPSCR1 * Alzheimer disease 1, familial; ; APP * Alzheimer disease 6; ; AD6 * Alzheimer disease 8; ; AD8 * Alzheimer disease, late-onset, susceptibility to; ; NOS3 * Alzheimer disease, type 3; ; PSEN1 * Alzheimer disease, type 3, with spastic paraparesis and apraxia; ; PSEN1 * Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; ; PSEN1 * Alzheimer disease-10; ; AD10 * Alzheimer disease-2; ; APOE * Alzheimer disease-4; ; PSEN2 * Alzheimer disease-5; ; AD5 * Amelogenesis imperfecta, hypomaturation type, IIA3; ; WDR72 * Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; ; DLX3 * Amelogenesis imperfecta, hypoplastic/hypomaturation type; ; AMELX * Amelogenesis imperfecta, type 3; ; FAM83H * Amelogenesis imperfecta, type IB; ; ENAM * Amelogenesis imperfecta, type IC; ; ENAM * Amelogenesis imperfecta, type IIA1; ; KLK4 * Amelogenesis imperfecta, type IIA2; ; MMP20 * Aminoacylase 1 deficiency; ; ACY1 * Amish infantile epilepsy syndrome; ; SIAT9 * Amyloidosis, 3 or more types; ; APOA1 * Amyloidosis, Finnish type; ; GSN * Amyloidosis, hereditary renal; ; FGA * Amyloidosis, hereditary, transthyretin-related; ; TTR * Amyloidosis, primary localized cutaneous; ; OSMR * Amyloidosis, renal; ; LYZ * Amyotrophic lateral sclerosis 10, with or without FTD; ; TARDBP * Amyotrophic lateral sclerosis 11; ; FIG4 * Amyotrophic lateral sclerosis 4, juvenile; ; SETX * Amyotrophic lateral sclerosis 6, autosomal recessive; ; FUS * Amyotrophic lateral sclerosis 8; ; VAPB * Amyotrophic lateral sclerosis 9; ; ANG * Amyotrophic lateral sclerosis, due to SOD1 deficiency; ; SOD1 * Amyotrophic lateral sclerosis, juvenile; ; ALS2 * Amyotrophy, hereditary neuralgic; ; 40430 * Amytrophic lateral sclerosis 12; ; OPTN * Anauxetic dysplasia; ; RMRP * Androgen insensitivity; ; AR * Androgen insensitivity, partial, with or without breast cancer; ; AR * Anemia, congenital dyserythropoietic, type I; ; CDAN1 * Anemia, dyserythropoietic congenital, type II; ; SEC23B * Anemia, hemolytic, due to UMPH1 deficiency; ; NT5C3 * Anemia, hemolytic, Rh-null, regulator type; ; RHAG * Anemia, hypochromic microcytic; ; NRAMP2 * Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; ; GLRX5 * Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; ; SLC25A38 * Anemia, sideroblastic, with ataxia; ; ABCB7 * Anemia, sideroblastic, X-linked; ; ALAS2 * Angelman syndrome; ; MECP2 * Angelman syndrome; ; UBE3A * Angelman syndrome-like; ; CDKL5 * Angioedema, hereditary, type III; ; F12 * Angioedema, hereditary, types I and II; ; C1NH * Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; ; COL4A1 * Aniridia; ; PAX6 * Anonychia congenita; ; RSPO4 * Anterior segment mesenchymal dysgenesis; ; FOXE3 * Anterior segment mesenchymal dysgenesis; ; PITX3 * Antithrombin III deficiency; ; AT3 * Antley-Bixler syndrome; ; FGFR2 * Antley-Bixler syndrome-like with disordered steroidogenesis; ; POR * Anxiety-related personality traits; ; SLC6A4 * Aortic aneurysm, familial thoracic 4; ; MYH11 * Aortic aneurysm, familial thoracic 6; ; ACTA2 * Aortic valve disease; ; NOTCH1 * Apert syndrome; ; FGFR2 * Aphakia, congenital primary; ; FOXE3 * Aplasia of lacrimal and salivary glands; ; FGF10 * Aplastic anemia; ; TERC * Argininemia; ; ARG1 * Argininosuccinic aciduria; ; ASL * Aromatase deficiency; ; CYP19A1 * Aromatase excess syndrome; ; CYP19A1 * Aromatic L-amino acid decarboxylase deficiency; ; DDC * Arrhythmogenic right ventricular dysplasia 1; ; TGFB3 * Arrhythmogenic right ventricular dysplasia 2; ; RYR2 * Arrhythmogenic right ventricular dysplasia 5; ; LAMR1 * Arrhythmogenic right ventricular dysplasia 8; ; DSP * Arrhythmogenic right ventricular dysplasia, familial, 10; ; DSG2 * Arrhythmogenic right ventricular dysplasia, familial, 11; ; DSC2 * Arrhythmogenic right ventricular dysplasia, familial, 12; ; JUP * Arrhythmogenic right ventricular dysplasia, familial, 5; ; TMEM43 * Arrhythmogenic right ventricular dysplasia, familial, 9; ; PKP2 * Arterial calcification, generalized, of infancy; ; ENPP1 * Arterial tortuosity syndrome; ; SLC2A10 * Arthrogryposis multiplex congenita, distal type 1; ; TPM2 * Arthrogryposis multiplex congenita, distal type 2B; ; TNNI2 * Arthrogryposis, distal, type 2A; ; MYH3 * Arthrogryposis, distal, type 2B; ; MYH3 * Arthrogryposis, distal, type 2B; ; TPM2 * Arthrogryposis, lethal, with anterior horn cell disease; ; GLE1 * Arthrogryposis, renal dysfunction, and cholestasis 1; ; VPS33B * Arthrogryposis, renal dysfunction, and cholestasis 2; ; VIPAR * Arthropathy, progressive pseudorheumatoid, of childhood; ; WISP3 * Arthyrgryposis, distal, type 2B; ; TNNT3 * Arts syndrome; ; PRPS1 * Aspartylglucosaminuria; ; AGA * Asphyxiating thoracic dystrophy 2; ; IFT80 * Asphyxiating thoracic dystrophy 3; ; DYNC2H1 * Asthma and nasal polyps; ; TBX21 * Ataxia with isolated vitamin E deficiency; ; TTPA * Ataxia, cerebellar, Cayman type; ; ATCAY * Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; ; APTX * Ataxia-ocular apraxia-2; ; SETX * Ataxia-telangiectasia; ; ATM * Ataxia-telangiectasia-like disorder; ; MRE11A * Atelosteogenesis II; ; SLC26A2 * Atelosteogenesis, type III; ; FLNB * Atelostogenesis, type I; ; FLNB * Athabaskan brainstem dysgenesis syndrome; ; HOXA1 * Atopy; ; SPINK5 * ATP synthase deficiency, nuclear-encoded; ; ATPAF2 * Atransferrinemia; ; TF * Atrial fibrillation; ; GJA5 * Atrial fibrillation, familial, 3; ; KCNQ1 * Atrial fibrillation, familial, 4; ; KCNE2 * Atrial fibrillation, familial, 6; ; NPPA * Atrial fibrillation, familial, 7; ; KCNA5 * Atrial septal defect 4; ; TBX20 * Atrial septal defect 5; ; ACTC1 * Atrial septal defect 6; ; TLL1 * Atrial septal defect with atrioventricular conduction defects; ; NKX2E * Atrial septal defect-2; ; GATA4 * Atrichia with papular lesions; ; HR * Atrioventricular canal defect; ; AVSD1 * Atrioventricular septal defect; ; GJA1 * Atrioventricular septal defect, partial, with heterotaxy syndrome; ; CRELD1 * Auditory neuropathy, autosomal recessive, 1; ; OTOF * Autoimmune disease, syndromic multisystem; ; ITCH * Autoimmune lymphoproliferative syndrome, type IA; ; TNFRSF6 * Autoimmune lymphoproliferative syndrome, type II; ; CASP10 * Autoimmune lymphoproliferative syndrome, type IIB; ; CASP8 * Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia; ; AIRE * Axenfeld-Rieger syndrome, type 1; ; PITX2 * Axenfeld-Rieger syndrome, type 3; ; FOXC1 * Azoospermia due to perturbations of meiosis; ; SYCP3 * Azoospermia; ; USP9Y * Baller-Gerold syndrome; ; RECQL4 * Bamforth-Lazarus syndrome; ; FOXE1 * Bannayan-Riley-Ruvalcaba syndrome; ; PTEN * Bardet-Biedl syndrome 1; ; BBS1 * Bardet-Biedl syndrome 10; ; BBS10 * Bardet-Biedl syndrome 11; ; TRIM32 * Bardet-Biedl syndrome 12; ; BBS12 * Bardet-Biedl syndrome 13; ; MKS1 * Bardet-Biedl syndrome 14; ; CEP290 * Bardet-Biedl syndrome 15; ; C2orf86 * Bardet-Biedl syndrome 2; ; BBS2 * Bardet-Biedl syndrome 3; ; ARL6 * Bardet-Biedl syndrome 4; ; BBS4 * Bardet-Biedl syndrome 5; ; BBS5 * Bardet-Biedl syndrome 6; ; MKKS * Bardet-Biedl syndrome 7; ; BBS7 * Bardet-Biedl syndrome 8; ; TTC8 * Bardet-Biedl syndrome 9; ; PTHB1 * Bare lymphocyte syndrome, type I; ; TAP1 * Bare lymphocyte syndrome, type I; ; TAPBP * Bare lymphocyte syndrome, type I, due to TAP2 deficiency; ; TAP2 * Bare lymphocyte syndrome, type II, complementation group A; ; MHC2TA * Bare lymphocyte syndrome, type II, complementation group C; ; RFX5 * Bare lymphocyte syndrome, type II, complementation group D; ; RFXAP * Bare lymphocyte syndrome, type II, complementation group E; ; RFX5 * Barth syndrome; ; TAZ * Bart-Pumphrey syndrome; ; GJB2 * Bartter syndrome, type 1; ; SLC12A1 * Bartter syndrome, type 2; ; KCNJ1 * Bartter syndrome, type 3; ; CLCNKB * Bartter syndrome, type 4, digenic; ; CLCNKB * Bartter syndrome, type 4a; ; BSND * Bartter syndrome, type 4b, digenic; ; CLCNKA * Basal cell carcinoma, somatic; ; PTCH1 * Basal cell carcinoma, somatic; ; PTCH2 * Basal cell carcinoma, somatic; ; RASA1 * Basal cell nevus syndrome; ; PTCH1 * Basal ganglia disease, biotin-responsive; ; SLC19A3 * Basal laminar drusen; ; HF1 * BCG and salmonella infection, disseminated; ; IL12B * BCG infection, generalized familial; ; IFNGR1 * Beare-Stevenson cutis gyrata syndrome; ; FGFR2 * Becker muscular dystrophy; ; DMD * Beckwith-Wiedemann syndrome; ; CDKN1C * Beckwith-Wiedemann syndrome; ; H19 * Beckwith-Wiedemann syndrome; ; KCNQ10T1 * Beckwith-Wiedemann syndrome; ; NSD1 * Bernard-Soulier syndrome, benign autosomal dominant; ; GP1BA * Bernard-Soulier syndrome, type A; ; GP1BA * Bernard-Soulier syndrome, type B; ; GP1BB * Bernard-Soulier syndrome, type C; ; GP9 * Best macular dystrophy; ; BEST1 * Bestrophinopathy; ; BEST1 * Beta-ureidopropionase deficiency; ; UPB1 * Bethlem myopathy; ; COL6A1 * Bethlem myopathy; ; COL6A2 * Bethlem myopathy; ; COL6A3 * Bietti crystalline corneoretinal dystrophy; ; CYP4V2 * Bifid nose with or without anorectal and renal anomalies; ; FREM1 * Bile acid malabsorption, primary; ; SLC10A2 * Bile acid synthesis defect, congenital, 2; ; AKR1D1 * Bile acid synthesis defect, congenital, 4; ; AMACR * Biotinidase deficiency; ; BTD * Birk-Barel mental retardation dysmorphism syndrome; ; KCNK9 * Birt-Hogg-Dube syndrome; ; FLCN * Bjornstad syndrome; ; BCS1L * Bladder cancer; ; KRAS * Bladder cancer; ; RB1 * Bladder cancer, somatic; ; FGFR3 * Blau syndrome; ; NOD2 * Bleeding disorder due to P2RY12 defect; ; P2RY12 * Blepharophimosis, epicanthus inversus, and ptosis, type 1; ; FOXL2 * Blepharophimosis, epicanthus inversus, and ptosis, type 2; ; FOXL2 * Blood group--Lutheran inhibitor; ; KLF1 * Bloom syndrome; ; RECQL3 * Blue cone monochromacy; ; OPN1MW * Blue-cone monochromacy; ; OPN1LW * Boomerang dysplasia; ; FLNB * Borjeson-Forssman-Lehmann syndrome; ; PHF6 * Bosley-Salih-Alorainy syndrome; ; HOXA1 * Bothnia retinal dystrophy; ; RLBP1 * Bowen-Conradi syndrome; ; EMG1 * Brachiootic syndrome 3; ; SIX1 * Brachydactyly type A1; ; BDA1B * Brachydactyly type A1; ; IHH * Brachydactyly type A2; ; BMPR1B * Brachydactyly type A2; ; GDF5 * Brachydactyly type B1; ; ROR2 * Brachydactyly type B2; ; NOG * Brachydactyly type C; ; GDF5 * Brachydactyly type D; ; HOXD13 * Brachydactyly type E; ; HOXD13 * Brachydactyly type E2; ; PTHLH * Brachydactyly-syndactyly syndrome; ; HOXD13 * Brachyolmia type 3; ; TRPV4 * Bradyopsia; ; RGS9 * Bradyopsia; ; RGS9BP * Brain small vessel disease with Axenfeld-Rieger anomaly; ; COL4A1 * Brain small vessel disease with hemorrhage; ; COL4A1 * Branchiooculofacial syndrome; ; TFAP2A * Branchiootorenal syndrome 2; ; SIX5 * Branchiootorenal syndrome with cataract; ; EYA1 * Branchiootorenal syndrome; ; EYA1 * Breast cancer; ; PPM1D * Breast cancer; ; SLC22A1L * Breast cancer; ; TP53 * Breast cancer, early-onset; ; BRIP1 * Breast cancer, invasive ductal; ; RAD54L * Breast cancer, somatic; ; AKT1 * Breast cancer, somatic; ; KRAS * Breast cancer, somatic; ; PIK3CA * Breast cancer, somatic; ; RB1CC1 * Brittle cornea syndrome; ; ZNF469 * Brody myopathy; ; ATP2A1 * Bronchiectasis with or without elevated sweat chloride 1; ; SCNN1B * Bronchiectasis with or without elevated sweat chloride 2; ; SCNN1A * Bronchiectasis with or without elevated sweat chloride 3; ; SCNN1G * Brooke-Spiegler syndrome; ; CYLD1 * Brown-Vialetto-Van Laere syndrome; ; C20orf54 * Bruck syndrome 2; ; PLOD2 * Brugada syndrome 1; ; SCN5A * Brugada syndrome 2; ; GPD1L * Brugada syndrome 3; ; CACNA1C * Brugada syndrome 4; ; CACNB2 * Brugada syndrome 5; ; SCN1B * Brugada syndrome 6; ; KCNE3 * Brugada syndrome 7; ; SCN3B * Brugada syndrome 8; ; HCN4 * Brunner syndrome; ; MAOA * Burkitt lymphoma; ; MYC * Buschke-Ollendorff syndrome; ; LEMD3 * C syndrome; ; CD96 * C5 deficiency; ; C5 * C6 deficiency; ; C6 * C7 deficiency; ; C7 * Caffey disease; ; COL1A1 * Campomelic dysplasia with autosomal sex reversal; ; SOX9 * Campomelic dysplasia; ; SOX9 * Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; ; PRG4 * Camurati-Engelmann disease; ; TGFB1 * Canavan disease; ; ASPA * Candidiasis, familial chronic mucocutaneous, autosomal dominant; ; CLEC7A * Candidiasis, familial chronic mucocutaneous, autosomal recessive; ; CARD9 * Capillary malformation-arteriovenous malformation; ; RASA1 * Carbamoyl phosphate synthetase I deficiency; ; CPS1 * Carbohydrate-deficient glycoprotein syndrome, type Ib; ; MPI * Carboxypeptidase N deficiency; ; CPN1 * Carcinoid tumors, intestinal; ; SDHD * Cardiac arrhythmia, ankyrin-B-related; ; ANK2 * Cardiac conduction defect, nonspecific; ; SCN1B * Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; ; SCO2 * Cardiofaciocutaneous syndrome; ; BRAF * Cardiofaciocutaneous syndrome; ; KRAS * Cardiofaciocutaneous syndrome; ; MAP2K1 * Cardiofaciocutaneous syndrome; ; MAP2K2 * Cardiomyopathy, dilated 1C; ; LDB3 * Cardiomyopathy, dilated; ; MYBPC3 * Cardiomyopathy, dilated, 1A; ; LMNA * Cardiomyopathy, dilated, 1AA; ; ACTN2 * Cardiomyopathy, dilated, 1BB; ; DSG2 * Cardiomyopathy, dilated, 1CC; ; NEXN * Cardiomyopathy, dilated, 1D; ; TNNT2 * Cardiomyopathy, dilated, 1DD; ; RBM20 * Cardiomyopathy, dilated, 1E; ; SCN5A * Cardiomyopathy, dilated, 1EE; ; MYH6 * Cardiomyopathy, dilated, 1FF; ; TNNI3 * Cardiomyopathy, dilated, 1G; ; TTN * Cardiomyopathy, dilated, 1GG; ; SDHA * Cardiomyopathy, dilated, 1I; ; DES * Cardiomyopathy, dilated, 1J; ; EYA4 * Cardiomyopathy, dilated, 1L; ; SGCD * Cardiomyopathy, dilated, 1M; ; CSRP3 * Cardiomyopathy, dilated, 1N; ; TCAP * Cardiomyopathy, dilated, 1O; ; ABCC9 * Cardiomyopathy, dilated, 1P; ; PLN * Cardiomyopathy, dilated, 1R; ; ACTC1 * Cardiomyopathy, dilated, 1S; ; MYH7 * Cardiomyopathy, dilated, 1W; ; VCL * Cardiomyopathy, dilated, 1X; ; FKTN * Cardiomyopathy, dilated, 1Y; ; TPM1 * Cardiomyopathy, dilated, 1Z; ; TNNC1 * Cardiomyopathy, dilated, 2A; ; TNNI3 * Cardiomyopathy, dilated, 3A; ; TAZ * Cardiomyopathy, dilated, 3B; ; DMD * Cardiomyopathy, familial hypertrophic, 1; ; MYH7 * Cardiomyopathy, familial hypertrophic, 10; ; MYL2 * Cardiomyopathy, familial hypertrophic, 11; ; ACTC1 * Cardiomyopathy, familial hypertrophic, 12; ; CSRP3 * Cardiomyopathy, familial hypertrophic, 13; ; TNNC1 * Cardiomyopathy, familial hypertrophic, 14; ; MYH6 * Cardiomyopathy, familial hypertrophic, 15; ; VCL * Cardiomyopathy, familial hypertrophic; ; CAV3 * Cardiomyopathy, familial hypertrophic; ; SLC25A4 * Cardiomyopathy, familial hypertrophic, 2; ; TNNT2 * Cardiomyopathy, familial hypertrophic, 3; ; TPM1 * Cardiomyopathy, familial hypertrophic, 4; ; MYBPC3 * Cardiomyopathy, familial hypertrophic, 8; ; MYL3 * Cardiomyopathy, familial restrictive; ; TNNI3 * Cardiomyopathy, familial restrictive, 3; ; TNNT2 * Cardiomyopathy, hypertrophic 6, with WPW; ; PRKAG2 * Cardiomyopathy, hypertrophic, midventricular, digenic; ; MYLK2 * Carney complex variant; ; MYH8 * Carney complex, type 1; ; PRKAR1A * Carnitine deficiency, systemic primary; ; SLC22A5 * Carotid intimal medial thickness 1; ; PPARG * Carpal tunnel syndrome, familial; ; TTR * Carpenter syndrome; ; RAB23 * Cartilage-hair hypoplasia; ; RMRP * Cataract with late-onset corneal dystrophy; ; PAX6 * Cataract, autosomal dominant, multiple types 1; ; BFSP2 * Cataract, cerulean, type 2; ; CRYBB2 * Cataract, congenital nuclear, 2; ; CRYBB3 * Cataract, congenital nuclear, autosomal recessive 3; ; CRYBB1 * Cataract, congenital zonular, with sutural opacities; ; CRYBA1 * Cataract, congenital; ; BFSP2 * Cataract, congenital, cerulean type, 3; ; CRYGD * Cataract, congenital, X-linked; ; NHS * Cataract, Coppock-like; ; CRYBB2 * Cataract, Coppock-like; ; CRYGC * Cataract, cortical, juvenile-onset; ; BFSP1 * Cataract, crystalline aculeiform; ; CRYGD * Cataract, juvenile, with microcornea and glucosuria; ; SLC16A12 * Cataract, juvenile-onset; ; BFSP2 * Cataract, lamellar 2; ; CRYBA4 * Cataract, lamellar; ; HSF4 * Cataract, Marner type; ; HSF4 * Cataract, nonnuclear polymorphic congenital; ; CRYGD * Cataract, polymorphic and lamellar; ; MIP * Cataract, posterior polar, 1; ; EPHA2 * Cataract, posterior polar, 3; ; CHMP4B * Cataract, posterior polar, 4; ; PITX3 * Cataract, posterior polar, 4, syndromic; ; PITX3 * Cataract, sutural, with punctate and cerulean opacities; ; CRYBB2 * Cataract, zonular pulverulent-1; ; GJA8 * Cataract, zonular pulverulent-3; ; GJA3 * Cataract-microcornea syndrome; ; GJA8 * CATSHL syndrome; ; FGFR3 * Caudal duplication anomaly; ; AXIN1 * Caudal regression syndrome; ; VANGL1 * Cavernous malformations of CNS and retina; ; CCM1 * CD59 deficiency; ; CD59 * CD8 deficiency, familial; ; CD8A * Cenani-Lenz syndactyly syndrome; ; LRP4 * Central core disease; ; RYR1 * Central hypoventilation syndrome; ; GDNF * Central hypoventilation syndrome, congenital; ; ASCL1 * Central hypoventilation syndrome, congenital; ; BDNF * Central hypoventilation syndrome, congenital; ; EDN3 * Central hypoventilation syndrome, congenital; ; PMX2B * Central hypoventilation syndrome, congenital; ; RET * Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; ; CA8 * Cerebellar ataxia; ; CP * Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; ; VLDLR * Cerebral amyloid angiopathy; ; CST3 * Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; ; APP * Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; ; NOTCH3 * Cerebral cavernous malformations 3; ; PDCD10 * Cerebral cavernous malformations-1; ; CCM1 * Cerebral cavernous malformations-2; ; C7orf22 * Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; ; SNAP29 * Cerebral palsy, spastic quadriplegic, 3; ; AP4M1 * Cerebral palsy, spastic quadriplegic; ; KANK1 * Cerebral palsy, spastic, symmetric, autosomal recessive; ; GAD1 * Cerebrocostomandibular-like syndrome; ; COG1 * Cerebrooculofacioskeletal syndrome 1; ; ERCC6 * Cerebrooculofacioskeletal syndrome 2; ; ERCC2 * Cerebrooculofacioskeletal syndrome 4; ; ERCC1 * Cerebrotendinous xanthomatosis; ; CYP27A1 * Ceroid lipofuscinosis, neuronal 8; ; CLN8 * Ceroid lipofuscinosis, neuronal, 10; ; CTSD * Ceroid lipofuscinosis, neuronal, 7; ; MFSD8 * Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; ; CLN8 * Ceroid lipofuscinosis, neuronal 1, infantile; ; PPT1 * Ceroid-lipofuscinosis, neuronal 2, classic late infantile; ; TPP1 * Ceroid lipofuscinosis, neuronal 3, juvenile; ; CLN3 * Ceroid-lipofuscinosis, neuronal-5, variant late infantile; ; CLN5 * Ceroid-lipofuscinosis, neuronal-6, variant late infantile; ; CLN6 * Cervical cancer, somatic; ; FGFR3 * Chanarin-Dorfman syndrome; ; ABHD5 * Char syndrome; ; TFAP2B * Charcot-Marie-Tooth disease, axonal, type 2F; ; HSPB1 * Charcot-Marie-Tooth disease, axonal, type 2K; ; GDAP1 * Charcot-Marie-Tooth disease, axonal, type 2L; ; HSPB8 * Charcot-Marie-Tooth disease, axonal, type 2M; ; DNM2 * Charcot-Marie-Tooth disease, axonal, type 2N; ; AARS * Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; ; GDAP1 * Charcot-Marie-Tooth disease, dominant intermediate 3; ; MPZ * Charcot-Marie-Tooth disease, dominant intermediate B; ; DNM2 * Charcot-Marie-Tooth disease, dominant intermediate C; ; YARS * Charcot-Marie-Tooth disease, recessive intermediate, A; ; GDAP1 * Charcot-Marie-Tooth disease, recessive intermediate, B; ; KARS * Charcot-Marie-Tooth disease type 1A; ; PMP22 * Charcot-Marie-Tooth disease type 1B; ; MPZ * Charcot-Marie-Tooth disease type 1C; ; LITAF * Charcot-Marie-Tooth disease type 1D; ; EGR2 * Charcot-Marie-Tooth disease type 1E; ; PMP22 * Charcot-Marie-Tooth disease type 1F; ; NEFL * Charcot-Marie-Tooth disease type 2A1; ; KIF1B * Charcot-Marie-Tooth disease type 2A2; ; MFN2 * Charcot-Marie-Tooth disease type 2B; ; RAB7 * Charcot-Marie-Tooth disease type 2B1; ; LMNA * Charcot-Marie-Tooth disease type 2B2; ; MED25 * Charcot-Marie-Tooth disease type 2D; ; GARS * Charcot-Marie-Tooth disease type 2E; ; NEFL * Charcot-Marie-Tooth disease type 2I; ; MPZ * Charcot-Marie-Tooth disease type 2J; ; MPZ * Charcot-Marie-Tooth disease type 4A; ; GDAP1 * Charcot-Marie-Tooth disease type 4B1; ; MTMR2 * Charcot-Marie-Tooth disease type 4B2; ; SBF2 * Charcot-Marie-Tooth disease type 4C; ; SH3TC2 * Charcot-Marie-Tooth disease type 4D; ; NDRG1 * Charcot-Marie-Tooth disease type 4F; ; PRX * Charcot-Marie-Tooth disease type 4H; ; FGD4 * Charcot-Marie-Tooth disease type 4J; ; FIG4 * Charcot-Marie-Tooth disease, X-linked recessive, 5; ; PRPS1 * Charcot-Marie-Tooth neuropathy, X-linked dominant, 1; ; GJB1 * CHARGE syndrome; ; CHD7 * CHARGE syndrome; ; SEMA3E * Chediak-Higashi syndrome; ; CHS1 * Cherubism; ; SH3BP2 * Chilblain lupus; ; TREX1 * CHILD syndrome; ; NSDHL * Chloride diarrhea, congenital, Finnish type; ; SLC26A3 * Cholestasis, benign recurrent intrahepatic, 2; ; ABCB11 * Cholestasis, benign recurrent intrahepatic; ; ATP8B1 * Cholestasis, familial intrahepatic, of pregnancy; ; ABCB4 * Cholestasis, progressive familial intrahepatic 1; ; ATP8B1 * Cholestasis, progressive familial intrahepatic 2; ; ABCB11 * Cholestasis, progressive familial intrahepatic 3; ; ABCB4 * Cholestasis, progressive familial intrahepatic 4; ; HSD3B7 * Cholesteryl ester storage disease; ; LIPA * Chondrocalcinosis 2; ; ANKH * Chondrodysplasia punctata, rhizomelic, type 2; ; GNPAT * Chondrodysplasia punctata, X-linked dominant; ; EBP * Chondrodysplasia punctata, X-linked recessive; ; ARSE * Chondrodysplasia, Blomstrand type; ; PTHR1 * Chondrodysplasia, Grebe type; ; GDF5 * Chondrosarcoma; ; EXT1 * Chondrosarcoma, extraskeletal myxoid; ; TAF15 * Chondrosarcoma, extraskeletal myxoid; ; TFG * Chondrosarcoma, extraskeletal myxoid; ; CSMF * Chorea, hereditary benign; ; NKX2-1 * Choreoacanthocytosis; ; VPS13A * Choreoathetosis, hypothyroidism, and neonatal respiratory distress; ; NKX2-1 * Choriodal dystrophy, central areolar 2,; ; PRPH2 * Choroid plexus papilloma; ; TP53 * Choroideremia; ; CHM * Chromosome 22q13.3 deletion syndrome; ; SHANK3 * Chromosome 5q14.3 deletion syndrome; ; MEF2C * Chrondrodysplasia, acromesomelic, with genital anomalies; ; BMPR1B * Chronic granulomatous disease due to deficiency of NCF-1; ; NCF1 * Chronic granulomatous disease due to deficiency of NCF-2; ; NCF2 * Chronic granulomatous disease, autosomal, due to deficiency of CYBA; ; CYBA * Chronic granulomatous disease, X-linked; ; CYBB * Chylomicron retention disease; ; SAR1B * Ciliary dyskinesia, primary, 1, with or without situs inversus; ; DNAI1 * Ciliary dyskinesia, primary, 10; ; KTU * Ciliary dyskinesia, primary, 11; ; RSPH4A * Ciliary dyskinesia, primary, 12; ; RSPH9 * Ciliary dyskinesia, primary, 13; ; LRRC50 * Ciliary dyskinesia, primary, 3, with or without situs inversus; ; DNAH5 * Ciliary dyskinesia, primary, 6; ; TXNDC3 * Ciliary dyskinesia, primary, 7, with or without situs inversus; ; DNAH11 * Ciliary dyskinesia, primary, 9, with or without situs inversus; ; DNAI2 * CINCA syndrome; ; NLRP3 * Cirrhosis, North American Indian childhood type; ; CIRH1A * Citrullinemia; ; ASS1 * Citrullinemia, adult-onset type II; ; SLC25A13 * Citrullinemia, type II, neonatal-onset; ; SLC25A13 * Cleft lip/palate-ectodermal dysplasia syndrome; ; HVEC * Cleft palate and mental retardation; ; SATB2 * Cleft palate with ankyloglossia; ; TBX22 * Cleft palate, isolated; ; UBB * Cleidocranial dysplasia; ; RUNX2 * C-like syndrome; ; CD96 * Clopidogrel, impaired responsiveness to; ; CYP2C * Clubfoot, congenital; ; PITX1 * COACH syndrome; ; CC2D2A * COACH syndrome; ; RPGRIP1L * COACH syndrome; ; TMEM67 * Cockayne syndrome type A; ; ERCC8 * Cockayne syndrome type B; ; ERCC6 * Cocoon syndrome; ; CHUK * Coenzyme Q10 deficiency; ; APTX * Coenzyme Q10 deficiency; ; CABC1 * Coenzyme Q10 deficiency; ; COQ2 * Coenzyme Q10 deficiency; ; COQ9 * Coenzyme Q10 deficiency; ; PDSS1 * Coenzyme Q10 deficiency; ; PDSS2 * Coffin-Lowry syndrome; ; RPS6KA3 * Cohen syndrome; ; COH1 * Cold-induced autoinflammatory syndrome, familial; ; NLRP3 * Cold-induced sweating syndrome 1; ; CLCF1 * Cold-induced sweating syndrome; ; CRLF1 * Coloboma of optic nerve; ; PAX6 * Coloboma, ocular; ; PAX6 * Coloboma, ocular; ; SHH * Colon cancer, somatic; ; PTPRJ * Colorblindness, deutan; ; OPN1MW * Colorblindness, tritan; ; OPN1SW * Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; ; MUTYH * Colorectal cancer; ; AXIN2 * Colorectal cancer; ; BUB1B * Colorectal cancer; ; EP300 * Colorectal cancer; ; NRAS * Colorectal cancer; ; PDGFRL * Colorectal cancer; ; TP53 * Colorectal cancer, hereditary nonpolyposis, type 1; ; MSH2 * Colorectal cancer, hereditary nonpolyposis, type 2; ; MLH1 * Colorectal cancer, hereditary nonpolyposis, type I; ; EPCAM * Colorectal cancer, somatic; ; FGFR3 * Colorectal cancer, somatic; ; AKT1 * Colorectal cancer, somatic; ; APC * Colorectal cancer, somatic; ; FLCN * Colorectal cancer, somatic; ; MLH3 * Colorectal cancer, somatic; ; PIK3CA * Combined cellular and humoral immune defects with granulomas; ; RAG1 * Combined cellular and humoral immune defects with granulomas; ; RAG2 * Combined factor V and VIII deficiency; ; LMAN1 * Combined hyperlipidemia, familial; ; LPL * Combined immunodeficiency, X-linked, moderate; ; IL2RG * Combined oxidative phosphorylation deficiency 1; ; GFM1 * Combined oxidative phosphorylation deficiency 2; ; MRPS16 * Combined oxidative phosphorylation deficiency 3; ; TSFM * Combined oxidative phosphorylation deficiency 4; ; TUFM * Combined oxidative phosphorylation deficiency 5; ; MRPS22 * Combined oxidative phosphorylation deficiency 6; ; AIFM1 * Combined SAP deficiency; ; PSAP * Complement component 4, partial deficiency of; ; C1NH * Complement factor H deficiency; ; HF1 * Complement factor I deficiency; ; CFI * Complex I, mitochondrial respiratory chain, deficiency of; ; NDUFS6 * Cone dystrophy 4; ; PDE6C * Cone dystrophy-3; ; GUCA1A * Cone-rod dystrophy 10; ; SEMA4A * Cone-rod dystrophy 11; ; RAXL1 * Cone-rod dystrophy 12; ; PROM1 * Cone-rod dystrophy 13; ; RPGRIP1 * Cone-rod dystrophy 14; ; GUCA1A * Cone-rod dystrophy 15; ; CDHR1 * Cone-rod dystrophy 3; ; ABCA4 * Cone-rod dystrophy 5; ; PITPNM3 * Cone-rod dystrophy; ; GUCY2D * Cone-rod dystrophy 7; ; RIMS1 * Cone-rod dystrophy 9; ; ADAM9 * Cone-rod dystrophy, X-linked, 3; ; CACNA1F * Cone-rod dystrophy-1; ; RPGR * Cone-rod retinal dystrophy-2; ; CRX * Congenital bilateral absence of vas deferens; ; CFTR * Congenital cataracts, facial dysmorphism, and neuropathy; ; CTDP1 * Congenital disorder of glycosylation, type Ia; ; PMM2 * Congenital disorder of glycosylation, type Ic; ; ALG6 * Congenital disorder of glycosylation, type Id; ; ALG3 * Congenital disorder of glycosylation, type Ie; ; DPM1 * Congenital disorder of glycosylation, type If; ; MPDU1 * Congenital disorder of glycosylation, type Ig; ; ALG12 * Congenital disorder of glycosylation, type Ih; ; ALG8 * Congenital disorder of glycosylation, type Ii; ; ALG2 * Congenital disorder of glycosylation, type IIA; ; MGAT2 * Congenital disorder of glycosylation, type IIb; ; GCS1 * Congenital disorder of glycosylation type IIc; ; SLC35C1 * Congenital disorder of glycosylation, type IId; ; B4GALT1 * Congenital disorder of glycosylation, type IIe; ; COG7 * Congenital disorder of glycosylation, type IIf; ; SLC35A1 * Congenital disorder of glycosylation, type IIg; ; COG1 * Congenital disorder of glycosylation, type IIh; ; COG8 * Congenital disorder of glycosylation, type IIj; ; COG4 * Congenital disorder of glycosylation, type Ij; ; DPAGT2 * Congenital disorder of glycosylation, type Ik; ; ALG1 * Congenital disorder of glycosylation, type Il; ; ALG9 * Congenital disorder of glycosylation, type Im; ; TMEM15 * Congenital disorder of glycosylation, type In; ; RFT1 * Congenital disorder of glycosylation, type Io; ; DPM3 * Congenital disorder of glycosylation, type Ip; ; SRD5A3 * Congenital heart defects, nonsyndromic, 1, X-linked; ; ZIC3 * Congenital heart disease, nonsyndromic, 2; ; TAB2 * Conjunctivitis, ligneous; ; PLG * Conotruncal anomaly face syndrome; ; TBX1 * Contractural arachnodactyly, congenital; ; FBN2 * Convulsions, benign familial infantile, 3; ; SCN2A1 * Convulsions, familial febrile, 4; ; GPR98 * COPD, rate of decline of lung function in; ; MMP1 * Coproporphyria; ; CPOX * Cornea plana congenita, recessive; ; KERA * Corneal dystrophy polymorphous posterior, 2; ; COL8A2 * Corneal dystrophy, Avellino type; ; TGFBI * Corneal dystrophy, congenital stromal; ; DCN * Corneal dystrophy, crystalline, of Schnyder; ; UBIAD1 * Corneal dystrophy, epithelial basement membrane; ; TGFBI * Corneal dystrophy, Fuchs endothelial, 1; ; COL8A2 * Corneal dystrophy, Fuchs endothelial, 4; ; SLC4A11 * Corneal dystrophy, Fuchs endothelial, 6; ; ZEB1 * Corneal dystrophy, gelatinous drop-like; ; TACSTD2 * Corneal dystrophy, Groenouw type I; ; TGFBI * Corneal dystrophy, hereditary polymorphous posterior; ; VSX1 * Corneal dystrophy, lattice type I; ; TGFBI * Corneal dystrophy, lattice type IIIA; ; TGFBI * Corneal dystrophy, posterior polymorphous, 3; ; ZEB1 * Corneal dystrophy, Reis-Bucklers type; ; TGFBI * Corneal dystrophy, Thiel-Behnke type; ; TGFBI * Corneal endothelial dystrophy 2; ; SLC4A11 * Corneal endothelial dystrophy and perceptive deafness; ; SLC4A11 * Corneal fleck dystrophy; ; PIKFYVE * Cornelia de Lange syndrome 1; ; NIPBL * Cornelia de Lange syndrome 2; ; DXS423E * Cornelia de Lange syndrome 3; ; CSPG6 * Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; ; IGBP1 * Corpus callosum, partial agenesis of; ; L1CAM * Cortical dysplasia-focal epilepsy syndrome; ; CNTNAP2 * Corticosteroid-binding globulin deficiency; ; CBG * Cortisone reductase deficiency; ; H6PD * Cortisone reductase deficiency; ; HSD11B1 * Costello syndrome; ; HRAS * Coumarin resistance; ; CYP2A6 * Cousin syndrome; ; TBX15 * Cowden disease; ; PTEN * Cowden-like syndrome; ; SDHB * Cowden-like syndrome; ; SDHD * CPT deficiency, hepatic, type IA; ; CPT1A * CPT deficiency, hepatic, type II; ; CPT2 * CPT II deficiency, lethal neonatal; ; CPT2 * Cranioectodermal dysplasia; ; IFT122 * Craniofacial-deafness-hand syndrome; ; PAX3 * Craniofrontonasal dysplasia; ; EFNB1 * Cranio-lenticulo-sutural dysplasia; ; SEC23A * Craniometaphyseal dysplasia; ; ANKH * Cranioosteoarthropathy; ; HPGD * Craniosynostosis, type 1; ; TWIST1 * Craniosynostosis, type 2; ; MSX2 * CRASH syndrome; ; L1CAM * Creatine deficiency syndrome, X-linked; ; SLC6A8 * Creatine phosphokinase, elevated serum; ; CAV3 * Creutzfeldt-Jakob disease; ; PRNP * Crigler Najjar syndrome type I; ; UGT1A1 * Crigler Najjar syndrome type II; ; UGT1A1 * Crisponi syndrome; ; CRLF1 * Crouzon syndrome with acanthosis nigricans; ; FGFR3 * Crouzon syndrome; ; FGFR2 * Cryptorchidism, bilateral; ; LGR8 * Cryptorchidism, idiopathic; ; INSL3 * Currarino syndrome; ; MNX1 * Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; ; LTBP4 * Cutis laxa, AD; ; ELN * Cutis laxa, autosomal dominant; ; FBLN5 * Cutis laxa, autosomal recessive; ; FBLN5 * Cutis laxa, autosomal recessive, type I; ; EFEMP2 * Cutis laxa, autosomal recessive, type II; ; ATP6V0A2 * Cutis laxa, autosomal recessive, type IIB; ; PYCR1 * Cutis laxa, recessive, type I; ; LOX * Cylindromatosis, familial; ; CYLD1 * Cystathioninuria; ; CTH * Cystic fibrosis; ; CFTR * Cystinosis, late-onset juvenile or adolescent nephropathic; ; CTNS * Cystinosis, nephropathic; ; CTNS * Cystinosis, ocular nonnephropathic; ; CTNS * Cystinuria; ; SLC3A1 * Cystinuria; ; SLC7A9 * Cytochrome C oxidase deficiency; ; COX6B1 * D-2-hydroxyglutaric aciduria; ; D2HGDH * Dandy-Walker malformation; ; ZIC1 * Dandy-Walker malformation; ; ZIC4 * Darier disease; ; ATP2A2 * Darsun syndrome; ; G6PC3 * D-bifunctional protein deficiency; ; HSD17B4 * De la Chapelle dysplasia; ; SLC26A2 * De Sanctis-Cacchione syndrome; ; ERCC6 * Deafness, autosomal dominant 1; ; DIAPH1 * Deafness, autosomal dominant 10; ; EYA4 * Deafness, autosomal dominant 11, neurosensory; ; MYO7A * Deafness, autosomal dominant 13; ; COL11A2 * Deafness, autosomal dominant 15; ; POU4F3 * Deafness, autosomal dominant 17; ; MYH9 * Deafness, autosomal dominant 20/26; ; ACTG1 * Deafness, autosomal dominant 22; ; MYO6 * Deafness, autosomal dominant 23; ; SIX1 * Deafness, autosomal dominant 25; ; SLC17A8 * Deafness, autosomal dominant 28; ; GRHL2 * Deafness, autosomal dominant 2A; ; KCNQ4 * Deafness, autosomal dominant 2B; ; GJB3 * Deafness, autosomal dominant 36; ; TMC1 * Deafness, autosomal dominant 36, with dentinogenesis; ; DSPP * Deafness, autosomal dominant 3A; ; GJB2 * Deafness, autosomal dominant 3B; ; GJB6 * Deafness, autosomal dominant 4; ; MYH14 * Deafness, autosomal dominant 44; ; CCDC50 * Deafness, autosomal dominant 48; ; MYO1A * Deafness, autosomal dominant 5; ; DFNA5 * Deafness, autosomal dominant 50; ; MIR96 * Deafness, autosomal dominant 8/12; ; TECTA * Deafness, autosomal dominant 9; ; COCH * Deafness, autosomal recessive 10, congenital; ; TMPRSS3 * Deafness, autosomal recessive 12; ; CDH23 * Deafness, autosomal recessive 16; ; STRC * Deafness, autosomal recessive 18; ; USH1C * Deafness, autosomal recessive 1A; ; GJB2 * Deafness, autosomal recessive 1B; ; GJB6 * Deafness, autosomal recessive 2, neurosensory; ; MYO7A * Deafness, autosomal recessive 21; ; TECTA * Deafness, autosomal recessive 22; ; OTOA * Deafness, autosomal recessive 23; ; PCDH15 * Deafness, autosomal recessive 25; ; GRXCR1 * Deafness, autosomal recessive 28; ; TRIOBP * Deafness, autosomal recessive 3; ; MYO15A * Deafness, autosomal recessive 30; ; MYO3A * Deafness, autosomal recessive 31; ; WHRN * Deafness, autosomal recessive 35; ; ESRRB * Deafness, autosomal recessive 36; ; ESPN * Deafness, autosomal recessive 37; ; MYO6 * Deafness, autosomal recessive 39; ; HGF * Deafness, autosomal recessive 49; ; MARVELD2 * Deafness, autosomal recessive 53; ; COL11A2 * Deafness, autosomal recessive 59; ; PJVK * Deafness, autosomal recessive 6; ; TMIE * Deafness, autosomal recessive 63; ; LRTOMT * Deafness, autosomal recessive 67; ; LHFPL5 * Deafness, autosomal recessive 7; ; TMC1 * Deafness, autosomal recessive 77; ; LOXHD1 * Deafness, autosomal recessive 79; ; TPRN * Deafness, autosomal recessive 8, childhood onset; ; TMPRSS3 * Deafness, autosomal recessive 84; ; PTPRQ * Deafness, autosomal recessive 9; ; OTOF * Deafness, autosomal recessive 91; ; SERPINB6 * Deafness, autosomal recessive, 24; ; RDX * Deafness, congenital with inner ear agenesis, microtia, and microdontia; ; FGF3 * Deafness, digenic GJB2/GJB6; ; GJB6 * Deafness, digenic, GJB2/GJB3; ; GJB3 * Deafness, sensorineural, with hypertrophic cardiomyopathy; ; MYO6 * Deafness, X-linked 1; ; PRPS1 * Deafness, X-linked 2; ; POU3F4 * Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema; ; PIEZO1 * Dejerine-Sottas disease; ; PMP22 * Dejerine-Sottas neuropathy; ; EGR2 * Dejerine-Sottas neuropathy, autosomal recessive; ; PRX * Dejerine-Sottas syndrome; ; MPZ * Dementia, familial British; ; ITM2B * Dementia, familial Danish; ; ITM2B * Dementia, familial, nonspecific; ; CHMP2B * Dementia, frontotemporal; ; PSEN1 * Dementia, frontotemporal, with or without parkinsonism; ; MAPT * Dementia, Lewy body; ; SNCA * Dementia, Lewy body; ; SNCB * Dent disease 2; ; OCRL * Dent disease; ; CLCN5 * Dentatorubropallidoluysian atrophy; ; ATN1 * Dentin dysplasia, type II; ; DSPP * Dentinogenesis imperfecta, Shields type II; ; DSPP * Dentinogenesis imperfecta, Shields type III; ; DSPP * Denys-Drash syndrome; ; WT1 * Dermatopathia pigmentosa reticularis; ; KRT14 * Desbuquois dysplasia; ; CANT1 * Desmoid disease, hereditary; ; APC * Desmosterolosis; ; DHCR24 * Diabetes insipidus, nephrogenic; ; AQP2 * Diabetes insipidus, nephrogenic; ; AVPR2 * Diabetes insipidus, neurohypophyseal; ; AVP * Diabetes mellitus, gestational; ; GCK * Diabetes mellitus, insulin-dependent, 2; ; INS * Diabetes mellitus, insulin-dependent, 20; ; HNF1A * Diabetes mellitus, insulin-resistant, with acanthosis nigricans; ; INSR * Diabetes mellitus, ketosis-prone; ; PAX4 * Diabetes mellitus, neonatal, with congenital hypothyroidism; ; GLIS3 * Diabetes mellitus, noninsulin-dependent; ; ABCC8 * Diabetes mellitus, noninsulin-dependent; ; HNF1B * Diabetes mellitus, noninsulin-dependent, late onset; ; GCK * Diabetes mellitus, permanent neonatal; ; ABCC8 * Diabetes mellitus, permanent neonatal; ; GCK * Diabetes mellitus, permanent neonatal; ; INS * Diabetes mellitus, permanent neonatal, with cerebellar agenesis; ; PTF1A * Diabetes mellitus, permanent neonatal, with neurologic features; ; KCNJ11 * Diabetes mellitus, transient neonatal 2; ; ABCC8 * Diabetes mellitus, transient neonatal, 1; ; ZFP57 * Diabetes mellitus, transient neonatal, 3; ; KCNJ11 * Diabetes mellitus, type 1; ; INS * Diabetes mellitus, type 2; ; PAX4 * Diabetes mellitus type II; ; AKT2 * Diabetes, permanent neonatal; ; KCNJ11 * Diamond-Blackfan anemia 1; ; RPS19 * Diamond-Blackfan anemia 10; ; RPS26 * Diamond-Blackfan anemia 4; ; RPS17 * Diamond-Blackfan anemia 5; ; RPL35A * Diamond-Blackfan anemia 6; ; RPL5 * Diamond-Blackfan anemia 7; ; RPL11 * Diamond-Blackfan anemia 8; ; RPS7 * Diamond-Blackfan anemia 9; ; RPS10 * Diamond-blackfan anemia; ; RPS24 * Diaphragmatic hernia 3; ; ZFPM2 * Diarrhea 3, secretory sodium, congenital, syndromic; ; SPINT2 * Diarrhea 4, malabsorptive, congenital; ; NEUROG3 * Diarrhea 5, with tufting enteropathy, congenital; ; EPCAM * Diastrophic dysplasia; ; SLC26A2 * Diastrophic dysplasia, broad bone-platyspondylic variant; ; SLC26A2 * Dicarboxylic aminoaciduria; ; SLC1A1 * DiGeorge syndrome; ; TBX1 * Digital clubbing, isolated congenital; ; HPGD * Dihydropyrimidine dehydrogenase deficiency; ; DPYD * Dihydropyrimidinuria; ; DPYS * Dilated cardiomyopathy with woolly hair and keratoderma; ; DSP * Dimethylglycine dehydrogenase deficiency; ; DMGDH * Disordered steroidogenesis, isolated; ; POR * Donnai-Barrow syndrome; ; LRP2 * Dopamine beta-hydroxylase deficiency; ; DBH * Dosage-sensitive sex reversal; ; DAX1 * Double outlet right ventricle; ; CFC1 * Double outlet right ventricle; ; GDF1 * Dowling-Degos disease; ; KRT5 * Doyne honeycomb degeneration of retina; ; EFEMP1 * Dravet syndrome; ; SCN1A * Duane retraction syndrome 2; ; CHN1 * Duane-radial ray syndrome; ; SALL4 * Dubin-Johnson syndrome; ; ABCC2 * Duchenne muscular dystrophy; ; DMD * Dyggve-Melchior-Clausen disease; ; DYM * Dysautonomia, familial; ; IKBKAP * Dyschromatosis symmetrica hereditaria; ; ADAR * Dyserythropoietic anemia with thrombocytopenia; ; GATA1 * Dyskeratosis congenita; ; TERT * Dyskeratosis congenita; ; NOLA2 * Dyskeratosis congenita, autosomal dominant; ; TERC * Dyskeratosis congenita, autosomal dominant; ; TINF2 * Dyskeratosis congenita, autosomal recessive; ; NOLA3 * Dyskeratosis congenita-1; ; DKC1 * Dyssegmental dysplasia, Silverman-Handmaker type; ; HSPG2 * Dystonia 16; ; PRKRA * Dystonia 6, torsion; ; THAP1 * Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; ; SPR * Dystonia, DOPA-responsive, with or without hyperphenylalainemia; ; GCH1 * Dystonia, juvenile-onset; ; ACTB * Dystonia, myoclonic; ; DRD2 * Dystonia-1, torsion; ; DYT1 * Dystonia-11, myoclonic; ; SGCE * Dystonia-12; ; ATP1A3 * Dystonia-parkinsonism, adult-onset; ; PLA2G6 * Dystonia-Parkinsonism, X-linked; ; TAF1 * EBD inversa; ; COL7A1 * EBD, Bart type; ; COL7A1 * Ectodermal dysplasia, anhidrotic, autosomal dominant; ; EDARADD * Ectodermal dysplasia, anhidrotic, autosomal recessive; ; EDARADD * Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency; ; NFKBIA * Ectodermal dysplasia, anhidrotic, X-linked; ; ED1 * Ectodermal dysplasia, ectrodactyly, and macular dystrophy; ; CDH3 * Ectodermal dysplasia, hidrotic; ; GJB6 * Ectodermal dysplasia, hypohidrotic, autosomal dominant; ; EDAR * Ectodermal dysplasia, hypohidrotic, autosomal recessive; ; EDAR * Ectodermal dysplasia, hypohidrotic, with immune deficiency; ; IKBKG * Ectodermal dysplasia, 'pure' hair-nail type; ; KRT85 * Ectodermal dysplasia/skin fragility syndrome; ; PKP1 * Ectodermal dysplasia-syndactyly syndrome 1; ; PVRL4 * Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency; ; IKBKG * Ectopia lentis, familial; ; FBN1 * Ectopia lentis, isolated, autosomal recessive; ; ADAMTSL4 * Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; ; TP63 * Ehlers-Danlos due to tenascin X deficiency; ; TNXB * Ehlers-Danlos syndrome, cardiac valvular form; ; COL1A2 * Ehlers-Danlos syndrome, hypermobility type; ; TNXB * Ehlers-Danlos syndrome, musculocontractural type; ; CHST14 * Ehlers-Danlos syndrome, progeroid form; ; B4GALT7 * Ehlers-Danlos syndrome, type I; ; COL1A1 * Ehlers-Danlos syndrome, type I; ; COL5A1 * Ehlers-Danlos syndrome, type I; ; COL5A2 * Ehlers-Danlos syndrome, type II; ; COL5A1 * Ehlers-Danlos syndrome, type III; ; COL3A1 * Ehlers-Danlos syndrome, type IV; ; COL3A1 * Ehlers-Danlos syndrome, type VI; ; PLOD * Ehlers-Danlos syndrome, type VIIA; ; COL1A1 * Ehlers-Danlos syndrome, type VIIB; ; COL1A2 * Ehlers-Danlos syndrome, type VIIC; ; ADAMTS2 * Eiken syndrome; ; PTHR1 * Elliptocytosis-1; ; EPB41 * Elliptocytosis-2; ; SPTA1 * Ellis-van Creveld syndrome; ; EVC * Ellis-van Creveld syndrome; ; LBN * Emery-Dreifuss muscular dystrophy 4; ; SYNE1 * Emery-Dreifuss muscular dystrophy 5; ; SYNE2 * Emery-Dreifuss muscular dystrophy 6; ; FHL1 * Emery-Dreifuss muscular dystrophy; ; EMD * Emery-Dreifuss muscular dystrophy, AD; ; LMNA * Emery-Dreifuss muscular dystrophy, AR; ; LMNA * Emphysema due to AAT deficiency; ; SERPINA1 * Emphysema-cirrhosis, due to AAT deficiency; ; SERPINA1 * Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency; ; TMEM70 * Encephalopathy, familial, with neuroserpin inclusion bodies; ; SERPINI1 * Encephalopathy, neonatal severe; ; MECP2 * Endocrine-cerebroosteodysplasia; ; ICK * Endometrial cancer; ; MLH3 * Endometrial cancer, familial; ; MSH6 * Endplate acetylcholinesterase deficiency; ; COLQ * Enhanced S-cone syndrome; ; NR2E3 * Enlarged vestibular aqueduct; ; FOXI1 * Enlarged vestibular aqueduct; ; SLC26A4 * Enterokinase deficiency; ; PRSS7 * Eosinophil peroxidase deficiency; ; EPX * Epidermodysplasia verruciformis; ; TMC6 * Epidermodysplasia verruciformis; ; TMC8 * Epidermolysis bullosa dystrophica, AD; ; COL7A1 * Epidermolysis bullosa dystrophica, AR; ; COL7A1 * Epidermolysis bullosa of hands and feet; ; ITGB4 * Epidermolysis bullosa pruriginosa; ; COL7A1 * Epidermolysis bullosa simplex with migratory circinate erythema; ; KRT5 * Epidermolysis bullosa simplex with mottled pigmentation; ; KRT5 * Epidermolysis bullosa simplex with pyloric atresia; ; PLEC1 * Epidermolysis bullosa simplex, Dowling-Meara type; ; KRT14 * Epidermolysis bullosa simplex, Dowling-Meara type; ; KRT5 * Epidermolysis bullosa simplex, Koebner type; ; KRT14 * Epidermolysis bullosa simplex, Koebner type; ; KRT5 * Epidermolysis bullosa simplex, Ogna type; ; PLEC1 * Epidermolysis bullosa simplex, recessive; ; KRT14 * Epidermolysis bullosa simplex, Weber-Cockayne type; ; KRT14 * Epidermolysis bullosa simplex, Weber-Cockayne type; ; KRT5 * Epidermolysis bullosa, generalized atrophic benign; ; LAMA3 * Epidermolysis bullosa, junctional, Herlitz type; ; LAMA3 * Epidermolysis bullosa, junctional, Herlitz type; ; LAMB3 * Epidermolysis bullosa, junctional, Herlitz type; ; LAMC2 * Epidermolysis bullosa, junctional, non-Herlitz type; ; COL17A1 * Epidermolysis bullosa, junctional, non-Herlitz type; ; ITGB4 * Epidermolysis bullosa, junctional, non-Herlitz type; ; LAMB3 * Epidermolysis bullosa, junctional, non-Herlitz type; ; LAMC2 * Epidermolysis bullosa, junctional, with pyloric atresia; ; ITGB4 * Epidermolysis bullosa, junctional, with pyloric stenosis; ; ITGA6 * Epidermolysis bullosa, lethal acantholytic; ; DSP * Epidermolysis bullosa, pretibial; ; COL7A1 * Epidermolytic hyperkeratosis; ; KRT1 * Epidermolytic hyperkeratosis; ; KRT10 * Epidermolytic palmoplantar keratoderma; ; KRT9 * Epilepsy, benign neonatal, type 2; ; KCNQ3 * Epilepsy, benign, neonatal, type 1; ; KCNQ2 * Epilepsy, female-restricted, with mental retardation; ; PCDH19 * Epilepsy, generalized, with febrile seizures plus, type 2; ; SCN1A * Epilepsy, generalized, with febrile seizures plus, type 3; ; GABRG2 * Epilepsy, juvenile myoclonic, susceptibility to; ; GABRD * Epilepsy, myoclonic, Lafora type; ; EPM2A * Epilepsy, myoclonic, Lafora type; ; NHLRC1 * Epilepsy, myoclonic, with mental retardation and spasticity; ; ARX * Epilepsy, neonatal myoclonic, with suppression-burst pattern; ; SLC25A22 * Epilepsy, nocturnal frontal lobe, 1; ; CHRNA4 * Epilepsy, nocturnal frontal lobe, 3; ; CHRNB2 * Epilepsy, nocturnal frontal lobe, type 4; ; CHRNA2 * Epilepsy, partial, with auditory features; ; LGI1 * Epilepsy, progressive myoclonic 1; ; CSTB * Epilepsy, progressive myoclonic 1B; ; PRICKLE1 * Epilepsy, progressive myoclonic 2B; ; NHLRC1 * Epilepsy, progressive myoclonic 3; ; KCTD7 * Epilepsy, pyridoxine-dependent; ; ALDH7A1 * Epilepsy, severe myoclonic, of infancy; ; SCN1A * Epilepsy, X-linked, with variable learning disabilities and behavior disorders; ; SYN1 * Epileptic encephalopathy, early infantile, 1; ; ARX * Epileptic encephalopathy, early infantile, 2; ; CDKL5 * Epileptic encephalopathy, early infantile, 4; ; STXBP1 * Epileptic encephalopathy, early infantile, 5; ; SPTAN1 * Epileptic encephalopathy, Lennox-Gastaut type; ; MAPK10 * Epiphyseal dysplasia, multiple 1; ; COMP * Epiphyseal dysplasia, multiple, 2; ; COL9A2 * Epiphyseal dysplasia, multiple, 3; ; COL9A3 * Epiphyseal dysplasia, multiple, 4; ; SLC26A2 * Epiphyseal dysplasia, multiple, 5; ; MATN3 * Epiphyseal dysplasia, multiple, with myopia and deafness; ; COL2A1 * Episodic ataxia, type 2; ; CACNA1A * Episodic ataxia, type 6; ; SLC1A3 * Episodic ataxia/myokymia syndrome; ; KCNA1 * Epstein syndrome; ; MYH9 * Erythermalgia, primary; ; SCN9A * Erythrocyte lactate transporter defect; ; SLC16A1 * Erythrocytosis, familial, 3; ; EGLN1 * Erythrocytosis, familial, 4; ; EPAS1 * Erythrokeratodermia variabilis et progressiva; ; GJB3 * Erythrokeratodermia variabilis with erythema gyratum repens; ; GJB4 * Escobar syndrome; ; CHRNG * Esophageal cancer; ; DLEC1 * Esophageal cancer, somatic; ; TGFBR2 * Esophageal carcinoma, somatic; ; RNF6 * Esophageal squamous cell carcinoma; ; 40513 * Esophageal squamous cell carcinoma; ; LZTS1 * Esophageal squamous cell carcinoma; ; WWOX * Ethylmalonic encephalopathy; ; ETHE1 * Ewing sarcoma; ; EWSR1 * Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; ; COX4I2 * Exostoses, multiple, type 1; ; EXT1 * Exostoses, multiple, type 2; ; EXT2 * Exudative vitreoretinopathy 4; ; LRP5 * Exudative vitreoretinopathy 5; ; TSPAN12 * Exudative vitreoretinopathy; ; FZD4 * Exudative vitreoretinopathy, X-linked; ; NDP * Fabry disease; ; GLA * Fabry disease, cardiac variant; ; GLA * Factor V and factor VIII, combined deficiency of; ; MCFD2 * Factor V deficiency; ; F5 * Factor XI deficiency, autosomal dominant; ; F11 * Factor XI deficiency, autosomal recessive; ; F11 * Factor XII deficiency; ; F12 * Factor XIIIA deficiency; ; F13A1 * Factor XIIIB deficiency; ; F13B * Failure of tooth eruption, primary; ; PTHR1 * Familial cold autoinflammatory syndrome 2; ; NALP12 * Familial Mediterranean fever, AD; ; MEFV * Familial Mediterranean fever, AR; ; MEFV * Fanconi anemia, complementation group 0; ; RAD51C * Fanconi anemia, complementation group A; ; FANCA * Fanconi anemia, complementation group B; ; FAAP95 * Fanconi anemia, complementation group D1; ; BRCA2 * Fanconi anemia, complementation group I; ; FANCI * Fanconi anemia, complementation group J; ; BRIP1 * Fanconi anemia, complementation group N; ; PALB2 * Fanconi renotubular syndrome 2; ; SLC34A1 * Fanconi-Bickel syndrome; ; SLC2A2 * Farber lipogranulomatosis; ; ASAH1 * Fatty liver, acute, of pregnancy; ; HADHA * Febrile convulsions, familial, 3A; ; SCN1A * Febrile convulsions, familial, 3B; ; SCN9A * Febrilel, convulsions, familial; ; GABRG2 * Fechtner syndrome; ; MYH9 * Feingold syndrome; ; MYCN * Fertile eunuch syndrome; ; GNRHR * Fetal akinesia deformation sequence; ; DOK7 * Fetal akinesia deformation sequence; ; RAPSN * Fetal hemoglobin quantitative trait locus 1; ; HBG1 * Fetal hemoglobin quantitative trait locus 1; ; HBG2 * FG syndrome 2; ; FLNA * FG syndrome 4; ; CASK * Fibrodysplasia ossificans progressiva; ; ACVR1 * Fibromatosis, gingival; ; SOS1 * Fibromatosis, gingival, 2; ; GINGF2 * Fibromatosis, juvenile hyaline; ; ANTXR2 * Fibrosis of extraocular muscles, congenital, 1; ; KIF21A * Fibrosis of extraocular muscles, congenital, 2; ; PHOX2A * Fibrosis of extraocular muscles, congenital, 3A; ; TUBB3 * Fibrosis of extraocular muscles, congenital, 3B; ; KIF21A * Fibular hypoplasia and complex brachydactyly; ; GDF5 * Fish-eye disease; ; LCAT * Fletcher factor deficiency; ; KLKB1 * Focal cortical dysplasia, Taylor balloon cell type; ; TSC1 * Focal dermal hypoplasia; ; PORCN * Folate malabsorption, hereditary; ; SLC46A1 * Follicle-stimulating hormone deficiency, isolated; ; FSHB * Foveal hyperplasia; ; PAX6 * Foveomacular dystrophy, adult-onset, with choroidal neovascularization; ; PRPH2 * Fragile X syndrome; ; FMR1 * Fragile X tremor/ataxia syndrome; ; FMR1 * Frank-ter Haar syndrome; ; SH3PXD2B * Fraser syndrome; ; FRAS1 * Fraser syndrome; ; FREM2 * Frasier syndrome; ; WT1 * Friedreich ataxia with retained reflexes; ; FXN * Friedreich ataxia; ; FXN * Frontometaphyseal dysplasia; ; FLNA * Frontonasal dysplasia 2; ; ALX4 * Frontonasal dysplasia 3; ; ALX1 * Frontorhiny; ; ALX3 * Frontotemporal lobar degeneration with ubiquitin-positive inclusions; ; GRN * Frontotemporal lobar degeneration, TARDBP-related; ; TARDBP * Fructose intolerance; ; ALDOB * Fructose-1,6-bisphosphatase deficiency; ; FBP1 * Fucosidosis; ; FUCA1 * Fuhrmann syndrome; ; WNT7A * Fumarase deficiency; ; FH * Fundus albipunctatus; ; RDH5 * Fundus albipunctatus; ; RLBP1 * Fundus flavimaculatus; ; ABCA4 * GABA-transaminase deficiency; ; ABAT * Galactokinase deficiency with cataracts; ; GALK1 * Galactose epimerase deficiency; ; GALE * Galactosemia; ; GALT * Galactosialidosis; ; CTSA * Gallbladder disease 1; ; ABCB4 * Gallbladder disease 4; ; ABCG8 * GAMT deficiency; ; GAMT * Gastric cancer, familial diffuse; ; CDH1 * Gastric cancer, somatic; ; APC * Gastric cancer, somatic; ; CASP10 * Gastric cancer, somatic; ; ERBB2 * Gastric cancer, somatic; ; FGFR2 * Gastric cancer, somatic; ; IRF1 * Gastric cancer, somatic; ; KLF6 * Gastric cancer, somatic; ; MUTYH * Gastric cancer, somatic; ; PIK3CA * Gastrointestinal stromal tumor, somatic; ; KIT * Gastrointestinal stromal tumor, somatic; ; PDGFRA * Gaucher disease, atypical; ; PSAP * Gaucher disease, perinatal lethal; ; GBA * Gaucher disease, type; ; GBA * Gaucher disease, type II; ; GBA * Gaucher disease, type III; ; GBA * Gaucher disease, type IIIC; ; GBA * Gaze palsy, horizontal, with progressive scoliosis; ; ROBO3 * Geleophysic dysplasia; ; ADAMTSL2 * Generalized epilepsy and paroxysmal dyskinesia; ; KCNMA1 * Generalized epilepsy with febrile seizures plus; ; SCN1B * Germ cell tumors; ; KIT * Geroderma osteodysplasticum; ; SCYL1BP1 * Gerstmann-Straussler disease; ; PRNP * Ghosal syndrome; ; TBXAS1 * Giant axonal neuropathy-1; ; GAN * Gillespie syndrome; ; PAX6 * Gitelman syndrome; ; SLC12A3 * Glanzmann thrombasthenia, type A; ; ITGA2B * Glaucoma 1, open angle, 1O; ; NTF4 * Glaucoma 1, open angle, E; ; OPTN * Glaucoma 1, open angle, G; ; WDR36 * Glaucoma 1A, primary open angle, juvenile-onset; ; MYOC * Glaucoma 1B, primary open angle, adult onset; ; GLC1B * Glaucoma 3, primary congenital, D; ; LTBP2 * Glaucoma 3A, primary congenital; ; CYP1B1 * Glaucoma, primary open angle, adult-onset; ; CYP1B1 * Glaucoma, primary open angle, juvenile-onset; ; CYP1B1 * Glioblastoma, somatic; ; ERBB2 * Globozoospermia; ; GOPC * Globozoospermia; ; SPATA16 * Glomerulocystic kidney disease with hyperuricemia and isosthenuria; ; UMOD * Glomerulopathy with fibronectin deposits 2; ; FN1 * Glomerulosclerosis, focal segmental, 1; ; ACTN4 * Glomerulosclerosis, focal segmental, 2; ; TRPC6 * Glomerulosclerosis, focal segmental, 3; ; CD2AP * Glomerulosclerosis, focal segmental, 5; ; INF2 * Glomuvenous malformations; ; GLML * Glucocorticoid deficiency 2; ; MRAP * Glucocorticoid deficiency, due to ACTH unresponsiveness; ; MC2R * Glucose-galactose malabsorption; ; SLC5A1 * GLUT1 deficiency syndrome 1; ; SLC2A1 * GLUT1 deficiency syndrome 2; ; SLC2A1 * Glutamate formiminotransferase deficiency; ; FTCD * Glutamine deficiency, congenital; ; GLUL * Glutaricaciduria, type I; ; GCDH * Glutaricaciduria, type IIA; ; ETFA * Glutaricaciduria, type IIB; ; ETFB * Glutaricaciduria, type IIC; ; ETFDH * Glutathione synthetase deficiency; ; GSS * Glycerol kinase deficiency; ; GK * Glycine encephalopathy; ; AMT * Glycine encephalopathy; ; GCSH * Glycine encephalopathy; ; GLDC * Glycine N-methyltransferase deficiency; ; GNMT * Glycogen storage disease 0, muscle; ; GYS1 * Glycogen storage disease Ib; ; SLC37A4 * Glycogen storage disease Ic; ; SLC37A4 * Glycogen storage disease Ic; ; SLC17A3 * Glycogen storage disease II; ; GAA * Glycogen storage disease IIb; ; LAMP2 * Glycogen storage disease IIIa; ; AGL * Glycogen storage disease IIIb; ; AGL * Glycogen storage disease IV; ; GBE1 * Glycogen storage disease IXc; ; PHKG2 * Glycogen storage disease of heart, lethal congenital; ; PRKAG2 * Glycogen storage disease VII; ; PFKM * Glycogen storage disease X; ; PGAM2 * Glycogen storage disease XI; ; LDHA * Glycogen storage disease XII; ; ALDOA * Glycogen storage disease XIII; ; ENO3 * Glycogen storage disease XIV; ; PGM1 * Glycogen storage disease XV; ; GYG1 * Glycogen storage disease type 0; ; GYS2 * Glycogen storage disease, type IXa1; ; PHKA2 * Glycogen storage disease, type IXa2; ; PHKA2 * Glycosylphosphatidylinositol deficiency; ; PIGM * GM1-gangliosidosis, type I; ; GLB1 * GM1-gangliosidosis, type II; ; GLB1 * GM1-gangliosidosis, type III; ; GLB1 * GM2-gangliosidosis, AB variant; ; GM2A * GM2-gangliosidosis, several forms; ; HEXA * Gnathodiaphyseal dysplasia; ; ANO5 * Goldberg-Shpritzen megacolon syndrome; ; KIAA1279 * Gout, PRPS-related; ; PRPS1 * GRACILE syndrome; ; BCS1L * Greenberg dysplasia; ; LBR * Greig cephalopolysyndactyly syndrome; ; GLI3 * Griscelli syndrome type 1; ; MYO5A * Griscelli syndrome type 2; ; RAB27A * Griscelli syndrome type 3; ; MLPH * Growth hormone deficiency with pituitary anomalies; ; HESX1 * Growth hormone deficiency, isolated, type IA; ; GH1 * Growth hormone deficiency, isolated, type IB; ; GH1 * Growth hormone deficiency, isolated, type IB; ; GHRHR * Growth hormone deficiency, isolated, type II; ; GH1 * Growth hormone insensitivity with immunodeficiency; ; STAT5B * Growth retardation with deafness and mental retardation due to IGF1 deficiency; ; IGF1 * Growth retardation, developmental delay, coarse facies, and early death; ; FTO * Guttmacher syndrome; ; HOXA13 * Gyrate atrophy of choroid and retina with or without ornithinemia; ; OAT * Haddad syndrome; ; ASCL1 * Hailey-Hailey disease; ; ATP2C1 * Haim-Munk syndrome; ; CTSC * Hallermann-Streiff syndrome; ; GJA1 * Hand-foot-uterus Syndrome; ; HOXA13 * Harderoporphyria; ; CPOX * HARP syndrome; ; PANK2 * Hartnup disorder; ; SLC6A19 * Hawkinsinuria; ; HPD * Hay-Wells syndrome; ; TP63 * HDL deficiency, type 2; ; ABCA1 * Hearing loss, low-frequency sensorineural; ; WFS1 * Heart block, nonprogressive; ; SCN5A * Heart block, progressive, type IA; ; SCN5A * Heinz body anemia; ; HBA2 * Heinz body anemias, alpha-; ; HBA1 * Heinz body anemias, beta-; ; HBB * HELLP syndrome, maternal, of pregnancy; ; HADHA * Hemangioma, capillary infantile, somatic; ; FLT4 * Hemangioma, capillary infantile, somatic; ; KDR * Hematopoiesis, cyclic; ; ELANE * Hematuria, benign familial; ; COL4A3 * Hemiplegic migraine, familial; ; CACNA1A * Hemochromatosis, type 2A; ; HJV * Hemochromatosis, type 2B; ; HAMP * Hemochromatosis, type 3; ; TFR2 * Hemochromatosis, type 4; ; SLC40A1 * Hemolytic anemia due to adenylate kinase deficiency; ; AK1 * Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; ; GCLC * Hemolytic anemia due to glutathione synthetase deficiency; ; GSS * Hemolytic anemia due to hexokinase deficiency; ; HK1 * Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; ; GPI * Hemolytic uremic syndrome, atypical, susceptibility to, 1; ; HF1 * Hemophagocytic lymphohistiocytosis, familial, 2; ; PRF1 * Hemophagocytic lymphohistiocytosis, familial, 3; ; UNC13D * Hemophagocytic lymphohistiocytosis, familial, 4; ; STX11 * Hemophilia B; ; F9 * Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh; ; SERPINA1 * Hemosiderosis, systemic, due to aceruloplasminemia; ; CP * Hennekam lymphangiectasia-lymphedema syndrome; ; CCBE1 * Hepatic adenoma; ; HNF1A * Hepatic venoocclusive disease with immunodeficiency; ; SP110 * Hepatocellular cancer; ; PDGFRL * Hepatocellular carcinoma; ; CTNNB1 * Hepatocellular carcinoma; ; TP53 * Hepatocellular carcinoma, childhood type; ; MET * Hepatocellular carcinoma, somatic; ; AXIN1 * Hepatocellular carcinoma, somatic; ; CASP8 * Hepatocellular carcinoma, somatic; ; PIK3CA * Hereditary hemorrhagic telangiectasia-1; ; ENG * Hereditary hemorrhagic telangiectasia-2; ; ACVRL1 * Hereditary motor and sensory neuropathy VI; ; MFN2 * Hereditary motor and sensory neuropathy, type IIc; ; TRPV4 * Hermansky-Pudlak syndrome 1; ; HPS1 * Hermansky-Pudlak syndrome 2; ; AP3B1 * Hermansky-Pudlak syndrome 3; ; HPS3 * Hermansky-Pudlak syndrome 4; ; HPS4 * Hermansky-Pudlak syndrome 5; ; HPS5 * Hermansky-Pudlak syndrome 6; ; HPS6 * Hermansky-Pudlak syndrome 7; ; DTNBP1 * Hermansky-Pudlak syndrome 8; ; BLOC1S3 * Heterotaxy, visceral, 1, S-linke; ; ZIC3 * Heterotaxy, visceral, 2, autosomal; ; CFC1 * Heterotaxy, visceral, 5; ; NODAL * Heterotopia, periventricular; ; FLNA * Heterotopia, periventricular, ED variant; ; FLNA * Hirschsprung disease; ; GDNF * Hirschsprung disease; ; RET * Hirschsprung disease, short-segment; ; PMX2B * Histiocytoma, angiomatoid fibrous, somatic; ; CREB1 * HMG-CoA synthase-2 deficiency; ; HMGCS2 * Hodgkin lymphoma; ; KLHDC8B * Holocarboxylase synthetase deficiency; ; HLCS * Holoprosencephaly-2; ; SIX3 * Holoprosencephaly-3; ; SHH * Holoprosencephaly-4; ; TGIF * Holoprosencephaly-5; ; ZIC2 * Holoprosencephaly-7; ; PTCH1 * Holoprosencephaly-9; ; GLI2 * Holt-Oram syndrome; ; TBX5 * Homocystinuria due to MTHFR deficiency; ; MTHFR * Homocystinuria, B6-responsive and nonresponsive types; ; CBS * Homocystinuria, cblD type, variant 1; ; C2orf25 * Homocystinuria-megaloblastic anemia, cbl E type; ; MTRR * Hoyeraal-Hreidarsson syndrome; ; DKC1 * HPRT-related gout; ; HPRT1 * Huntington disease; ; HTT * Huntington disease-like 1; ; PRNP * Huntington disease-like 2; ; JPH3 * Huchinson-Gilford Progeria; ; LMNA * Hyalinosis, infantile systemic; ; ANTXR2 * Hydatidiform mole; ; NALP7 * Hydranencephaly with abnormal genitalia; ; ARX * Hydrocephalus due to aqueductal stenosis; ; L1CAM * Hydrocephalus with congenital idiopathic intestinal pseudoobstruction; ; L1CAM * Hydrocephalus with Hirschsprung disease and cleft palate; ; L1CAM * Hydrolethalus syndrome; ; HYLS1 * Hyperalphalipoproteinemia; ; CETP * Hyperbilirubinemia, familial transcient neonatal; ; UGT1A1 * Hypercarotenemia and vitamin A deficiency, autosomal dominant; ; BCMO1 * Hypercholanemia, familial; ; BAAT * Hypercholanemia, familial; ; EPHX1 * Hypercholanemia, familial; ; TJP2 * Hypercholesterolemia, due to ligand-defective apo B; ; APOB * Hypercholesterolemia, familial; ; LDLR * Hypercholesterolemia, familial, 3; ; PCSK9 * Hypercholesterolemia, familial, autosomal recessive; ; LDLRAP1 * Hypercholesterolemia, familial, modification of; ; APOA2 * Hyperchylomicronemia, late-onset; ; APOA5 * Hyperekplexia and epilepsy; ; ARHGEF9 * Hyperekplexia; ; GPHN * Hyperekplexia; ; SLC6A5 * Hyperekplexia, autosomal recessive; ; GLRB * Hypereosinophilic syndrome, idiopathic, resistant to imatinib; ; PDGFRA * Hyperferritinemia-cataract syndrome; ; FTL * Hyperfibrinolysis, familial, due to increased release of PLAT; ; PLAT * Hyperglycinuria; ; SLC36A2 * Hyperglycinuria; ; SLC6A19 * Hyperglycinuria; ; SLC6A20 * Hyper-IgD syndrome; ; MVK * Hyper-IgE recurrent infection syndrome; ; STAT3 * Hyper-IgE recurrent infection syndrome, autosomal recessive; ; DOCK8 * Hyperinsulinemic hypoglycemia, familial, 1; ; ABCC8 * Hyperinsulinemic hypoglycemia, familial, 2; ; KCNJ11 * Hyperinsulinemic hypoglycemia, familial, 3; ; GCK * Hyperinsulinemic hypoglycemia, familial, 4; ; HADHSC * Hyperinsulinemic hypoglycemia, familial, 5; ; INSR * Hyperinsulinemic hypoglycemia, familial, 7; ; SLC16A1 * Hyperinsulinism-hyperammonemia syndrome; ; GLUD1 * Hyperkalemic periodic paralysis, type 2; ; SCN4A * Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations; ; CCM1 * Hyperlipoproteinemia, type Ib; ; APOC2 * Hyperlysinemia; ; AASS * Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; ; MAT1A * Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; ; SLC25A15 * Hyperostosis, endosteal; ; LRP5 * Hyperoxaluria, primary, type 1; ; AGXT * Hyperoxaluria, primary, type II; ; GRHPR * Hyperoxaluria, primary, type III; ; DHDPSL * Hyperparathyroidism, AD; ; MEN1 * Hyperparathyroidism, familial primary; ; HRPT2 * Hyperparathyroidism, neonatal; ; CASR * Hyperparathyroidism-jaw tumor syndrome; ; HRPT2 * Hyperpehnylalaninemia, BH4-deficient, B; ; GCH1 * Hyperphenylalaninemia, BH4-deficient, A; ; PTS * Hyperphenylalaninemia, BH4-deficient, C; ; QDPR * Hyperphenylalaninemia, BH4-deficient, D; ; PCBD * Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism; ; SLC29A3 * Hyperpigmentation, familial progressive; ; KITLG * Hyperprolinemia, type I; ; PRODH * Hyperprolinemia, type II; ; ALDH4A1 * Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy; ; NR3C2 * Hypertension, essential; ; PNMT * Hypertension, essential; ; AGTR1 * Hypertension, essential; ; PTGIS * Hyperthyroidism, familial gestational; ; TSHR * Hyperthyroidism, nonautoimmune; ; TSHR * Hypertrophic osteoarthropathy, primary, autosomal recessive; ; HPGD * Hyperuricemic nephropathy, familial juvenile 1; ; UMOD * Hyperuricemic nephropathy, familial juvenile 2; ; REN * Hypoaldosteronism, congenital, due to CMO I deficiency; ; CYP11B2 * Hypoaldosteronism, congenital, due to CMO II deficiency; ; CYP11B2 * Hypoalphalipoproteinemia; ; APOA1 * Hypocalcemia, autosomal dominant; ; CASR * Hypocalciuric hypercalcemia, type I; ; CASR * Hypochondroplasia; ; FGFR3 * Hypoglycemia of infancy, leucine-sensitive; ; ABCC8 * Hypogonadism, hypogonadotropic; ; PROK2 * Hypogonadotropic hypogonadism due to GNRH deficiency; ; GNRH1 * Hypogonadotropic hypogonadism; ; CHD7 * Hypogonadotropic hypogonadism; ; FGFR1 * Hypogonadotropic hypogonadism; ; KISS1R * Hypogonadotropic hypogonadism; ; NELF * Hypogonadotropic hypogonadism; ; TAC3 * Hypogonadotropic hypogonadism; ; TACR3 * Hypokalemic periodic paralysis type 1; ; CACNA1S * Hypomagnesemia 4, renal; ; EGF * Hypomagnesemia with secondary hypocalcemia; ; TRPM6 * Hypomagnesemia, primary; ; CLDN16 * Hypomagnesemia, renal, with ocular involvement; ; CLDN19 * Hypomagnesemia-2, renal; ; FXYD2 * Hypomyelination, global cerebral; ; SLC25A12 * Hypoparathyroidism, autosomal dominant; ; PTH * Hypoparathyroidism, autosomal recessive; ; PTH * Hypoparathyroidism, familial isolated; ; GCMB * Hypoparathyroidism, sensorineural deafness, and renal dysplasia; ; GATA3 * Hypoparathyroidism-retardation-dysmorphism syndrome; ; TBCE * Hypophosphatasia, adult; ; ALPL * Hypophosphatasia, childhood; ; ALPL * Hypophosphatasia, infantile; ; ALPL * Hypophosphatemia, X-linked; ; PHEX * Hypophosphatemic rickets with hypercalciuria; ; SLC34A3 * Hypophosphatemic rickets; ; CLCN5 * Hypophosphatemic rickets, AR; ; DMP1 * Hypophosphatemic rickets, autosomal dominant; ; FGF23 * Hypophosphatemic rickets, autosomal recessive, 2; ; ENPP1 * Hypoplastic left heart syndrome; ; GJA1 * Hypoproteinemia, hypercatabolic; ; B2M * Hypospadias 1, X-linked; ; AR * Hypospadias 2, X-linked; ; MAMLD1 * Hypothryoidism, congenital, nongoitrous 4; ; TSHB * Hypothyroidism, congenital nongoitrous, 5; ; NKX2E * Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia; ; PAX8 * Hypothyroidism, congenital, nongoitrous; ; TSHR * Hypotrichosis and recurrent skin vesicles; ; DSC3 * Hypotrichosis simplex of scalp; ; CDSN * Hypotrichosis, congenital, with juvenile macular dystrophy; ; CDH3 * Hypotrichosis, hereditary, Marie Unna type, 1; ; HR * Hypotrichosis, localized, autosomal recessive 2; ; LIPH * Hypotrichosis, localized, autosomal recessive, 3; ; P2RY5 * Hypotrichosis, localized, autosomal recessive; ; DSG4 * Hypotrichosis-lymphedema-telangiectasia syndrome; ; SOX18 * Hypouricemia, renal, 2; ; SLC2A9 * Hypouricemia, renal; ; SLC22A12 * Hystrix-like ichthyosis with deafness; ; GJB2 * Ichthyosiform erythroderma, congenital; ; TGM1 * Ichthyosiform erythroderma, congenital, nonbullous, 1; ; ALOX12B * Ichthyosiform erythroderma, congenital, nonbullous, 1; ; ALOXE3 * Ichthyosis bullosa of Siemens; ; KRT2 * Ichthyosis follicularis, atrichia, and photophobia syndrome; ; MBTPS2 * Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic; ; KRT1 * Ichthyosis prematurity syndrome; ; SLC27A4 * Ichthyosis vulgaris; ; FLG * Ichthyosis with confetti; ; KRT10 * Ichthyosis with hypotrichosis; ; ST14 * Ichthyosis, congenital, autosomal recessive; ; ICHYN * Ichthyosis, cyclic, with epidermolytic hyperkeratosis; ; KRT1 * Ichthyosis, cyclic, with epidermolytic hyperkeratosis; ; KRT10 * Ichthyosis, harlequin; ; ABCA12 * Ichthyosis, lamellar 2; ; ABCA12 * Ichthyosis, lamellar, 3; ; CYP4F22 * Ichthyosis, lamellar, autosomal recessive; ; TGM1 * Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; ; CLDN1 * Ichthyosis, x-linked; ; STS * Iminoglycinuria, digenic; ; SLC36A2 * Iminoglycinuria, digenic; ; SLC6A19 * Iminoglycinuria, digenic; ; SLC6A20 * Immune dysfunction with T-cell inactivation due to calcium entry defect 1; ; ORAI1 * Immune dysfunction, with T-cell inactivation due to calcium entry defect 2; ; STIM1 * Immunodeficiency due to defect in CD3-zeta; ; CD247 * Immunodeficiency due to defect in MAPBP-interacting protein; ; MAPBPIP * Immunodeficiency due to purine nucleoside phosphorylase deficiency; ; PNP * Immunodeficiency with hyper IgM, type 4; ; UNG * Immunodeficiency with hyper-IgM, type 2; ; AICDA * Immunodeficiency with hyper-IgM, type 3; ; TNFRSF5 * Immunodeficiency, common variable, 1; ; ICOS * Immunodeficiency, common variable, 2; ; TNFRSF13B * Immunodeficiency, common variable, 3; ; CD19 * Immunodeficiency, common variable, 4; ; TNFRSF13C * Immunodeficiency, common variable, 5; ; MS4A1 * Immunodeficiency, common variable, 6; ; CD81 * Immunodeficiency, hypogammaglobulinemia, and reduced B cells; ; CD79B * Immunodeficiency, isolated; ; IKBKG * Immunodeficiency, X-linked, with hyper-IgM; ; TNFSF5 * Immunodeficiency-centromeric instability-facial anomalies syndrome; ; DNMT3B * Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; ; FOXP3 * Immunoglobulin A deficiency 2; ; TNFRSF13B * Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; ; VCP * Inclusion body myopathy, autosomal recessive; ; GNE * Inclusion body myopathy-3; ; MYH2 * Incontinentia pigmenti, type II; ; IKBKG * Infantile neuroaxonal dystrophy 1; ; PLA2G6 * Inflammatory bowel disease 25; ; CRFB4 * Insensitivity to pain, channelopathy-associated; ; SCN9A * Insensitivity to pain, congenital, with anhidrosis; ; NTRK1 * Insomnia, fatal familial; ; PRNP * Insulin resistance, severe, digenic; ; PPARG * Insulin resistance, severe, digenic; ; PPP1R3A * Insulin-like growth factor I, resistance to; ; IGF1R * Interleukin 1 receptor antagonist deficiency; ; IL1RN * Interleukin-2 receptor, alpha chain, deficiency of; ; IL2RA * Intestinal pseudoobstruction, neuronal; ; FLNA * Intrinsic factor deficiency; ; GIF * Invasive pneumococcal disease, recurrent isolated, 1; ; IRAK4 * IRAK4 deficiency; ; IRAK4 * Iridogoniodysgenesis, type 1; ; FOXC1 * Iridogoniodysgenesis, type 2; ; PITX2 * Iris hypoplasia and glaucoma; ; FOXC1 * Iron-refractory iron deficiency anemia; ; TMPRSS6 * Isobutyryl-CoA dehydrogenase deficiency; ; ACAD8 * Isovaleric acidemia; ; IVD * IVIC syndrome; ; SALL4 * Jackson-Weiss syndrome; ; FGFR1 * Jackson-Weiss syndrome; ; FGFR2 * Jalili syndrome; ; CNNM4 * Jensen syndrome; ; TIMM8A * Jervell and Lange-Nielsen syndrome 2; ; KCNE1 * Jervell and Lange-Nielsen syndrome; ; KCNQ1 * Johanson-Blizzard syndrome; ; UBR1 * Joubert syndrome 1; ; INPP5E * Joubert syndrome 10; ; OFD1 * Joubert syndrome 2; ; TMEM216 * Joubert syndrome 4; ; NPHP1 * Joubert syndrome 5; ; CEP290 * Joubert syndrome 6; ; TMEM67 * Joubert syndrome 7; ; RPGRIP1L * Joubert syndrome 8; ; ARL13B * Joubert syndrome 9; ; CC2D2A * Joubert syndrome-3; ; AHI1 * Juvenile polyposis syndrome, infantile form; ; BMPR1A * Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; ; MADH4 * Kallmann syndrome 2; ; FGFR1 * Kallmann syndrome 3; ; PROKR2 * Kallmann syndrome 4; ; PROK2 * Kallmann syndrome 5; ; CHD7 * Kallmann syndrome 6; ; FGF8 * Kanzaki disease; ; NAGA * Karak syndrome; ; PLA2G6 * Kenny-Caffey syndrome-1; ; TBCE * Keratitis; ; PAX6 * Keratitis-ichthyosis-deafness syndrome; ; GJB2 * Keratoconus; ; VSX1 * Keratoderma, palmoplantar, with deafness; ; GJB2 * Keratosis follicularis spinulosa decalvans; ; SAT1 * Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; ; POMP * Keratosis palmoplantaris striata I; ; DSG1 * Keratosis palmoplantaris striata II; ; DSP * Keratosis palmoplantaris striata III; ; KRT1 * Keratosis, seborrheic, somatic; ; PIK3CA * Keutel syndrome; ; MGP * Kindler syndrome; ; KIND1 * Kleefstra syndrome; ; EHMT1 * Klippel-Feil syndrome, autosomal dominant; ; GDF6 * Kniest dysplasia; ; COL2A1 * Knobloch syndrome, type 1; ; COL18A1 * Kowarski syndrome; ; GH1 * Krabbe disease; ; GALC * Krabbe disease, atypical; ; PSAP * L-2-hydroxyglutaric aciduria; ; L2HGDH * Lactase deficiency, congenital; ; LCT * Lactase persistance/nonpersistance; ; MCM6 * Lactic acidosis, fatal infantile; ; SUCLG1 * Lacticacidemia due to PDX1 deficiency; ; PDX1 * LADD syndrome; ; FGF10 * LADD syndrome; ; FGFR3 * Laing distal myopathy; ; MYH7 * Langer mesomelic dysplasia; ; SHOX * Langer mesomelic dysplasia; ; SHOXY * Laron dwarfism; ; GHR * Larsen syndrome; ; FLNB * Laryngoonychocutaneous syndrome; ; LAMA3 * Lathosterolosis; ; SC5DL * LCHAD deficiency; ; HADHA * Leber congenital amaurosis 1; ; GUCY2D * Leber congenital amaurosis 10; ; CEP290 * Leber congenital amaurosis 12; ; RD3 * Leber congenital amaurosis 13; ; RDH12 * Leber congenital amaurosis 14; ; LRAT * Leber congenital amaurosis 2; ; RPE65 * Leber congenital amaurosis 3; ; SPATA7 * Leber congenital amaurosis 4; ; AIPL1 * Leber congenital amaurosis 5; ; LCA5 * Left ventricular noncompaction 1, with or without congenital heart defects; ; DTNA * Left ventricular noncompaction 3, with or without dilated cardiomyopathy; ; LDB3 * Left ventricular noncompaction 4; ; ACTC1 * Left ventricular noncompaction 5; ; MYH7 * Left ventricular noncompaction 6; ; TNNT2 * Left ventricular noncompaction, X-linked; ; TAZ * Legius syndrome; ; SPRED1 * Leigh syndrome due to cytochrome c oxidase deficiency; ; COX15 * Leigh syndrome due to mitochondrial complex I deficiency; ; C8orf38 * Leigh syndrome due to mitochondrial complex I deficiency; ; NDUFA2 * Leigh syndrome; ; BCS1L * Leigh syndrome; ; DLD * Leigh syndrome; ; NDUFS3 * Leigh syndrome; ; NDUFS4 * Leigh syndrome; ; NDUFS7 * Leigh syndrome; ; NDUFS8 * Leigh syndrome; ; NDUFV1 * Leigh syndrome; ; SDHA * Leigh syndrome, due to COX deficiency; ; SURF1 * Leigh syndrome, French-Canadian type; ; LRPPRC * Leigh syndrome, X-linked; ; PDHA1 * Leiomyomatosis and renal cell cancer; ; FH * Leiomyomatosis, diffuse, with Alport syndrome; ; COL4A6 * LEOPARD syndrome 2; ; RAF1 * Leopard syndrome; ; PTPN11 * Leprechaunism; ; INSR * Leri-Weill dyschondrosteosis; ; SHOX * Leri-Weill dyschondrosteosis; ; SHOXY * Lesch-Nyhan syndrome; ; HPRT1 * Lethal congenital contractural syndrome 2; ; ERBB3 * Lethal congenital contractural syndrome 3; ; PIP5K1C * Lethal congenital contracture syndrome 1; ; GLE1 * Leukemia, acute lymphocytic; ; BCR * Leukemia, acute myelogenous; ; AMLCR2 * Leukemia, acute myelogenous; ; GMPS * Leukemia, acute myelogenous; ; JAK2 * Leukemia, acute myeloid; ; MLF1 * Leukemia, acute myeloid; ; NSD1 * Leukemia, acute myeloid; ; SH3GL1 * Leukemia, acute myeloid; ; AF10 * Leukemia, acute myeloid; ; ARHGEF12 * Leukemia, acute myeloid; ; CEBPA * Leukemia, acute myeloid; ; FLT3 * Leukemia, acute myeloid; ; KIT * Leukemia, acute myeloid; ; LPP * Leukemia, acute myeloid; ; NPM1 * Leukemia, acute myeloid; ; NUP214 * Leukemia, acute myeloid; ; PICALM * Leukemia, acute myeloid; ; RUNX1 * Leukemia, acute myeloid; ; WHSC1L1 * Leukemia, acute myeloid, somatic; ; ETV6 * Leukemia, acute promyelocytic; ; RARA * Leukemia, chronic myeloid; ; BCR * Leukemia, juvenile myelomonocytic; ; ARHGAP26 * Leukemia, juvenile myelomonocytic; ; NF1 * Leukemia, juvenile myelomonocytic; ; PTPN11 * Leukemia, megakaryoblastic, of Down syndrome; ; GATA1 * Leukemia, megakaryoblastic, with or without Down syndrome; ; GATA1 * Leukocyte adhesion deficiency; ; ITGB2 * Leukocyte adhesion deficiency, type III; ; KIND3 * Leukodystrophy, adult-onset, autosomal dominant; ; LMNB1 * Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia; ; FA2H * Leukodystrophy, hypomyelinating, 2; ; GJC2 * Leukodystrophy, hypomyelinating, 4; ; HSPD1 * Leukodystrophy, hypomyelinating, 5; ; FAM126A * Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; ; DARS2 * Leukoencephalopathy with vanishing white matter; ; EIF2B1 * Leukoencephalopathy with vanishing white matter; ; EIF2B2 * Leukoencephalopathy with vanishing white matter; ; EIF2B3 * Leukoencephalopathy with vanishing white matter; ; EIF2B5 * Leukoencephalopathy, cystic, without megalencephaly; ; RNASET2 * Leukoencephaly with vanishing white matter; ; EIF2B4 * Leydig cell adenoma, somatic, with precocious puberty; ; LHCGR * Leydig cell hypoplasia with hypergonadotropic hypogonadism; ; LHCGR * Leydig cell hypoplasia with pseudohermaphroditism; ; LHCGR * Lhermitte-Duclos syndrome; ; PTEN * Liddle syndrome; ; SCNN1B * Liddle syndrome; ; SCNN1G * Li-Fraumeni syndrome; ; CDKN2A * Li-Fraumeni syndrome; ; TP53 * Li-Fraumeni syndrome; ; CHEK2 * Li-Fraumeni-like syndrome; ; TP53 * LIG4 syndrome; ; LIG4 * Limb-mammary syndrome; ; TP63 * Lipase deficiency, combined; ; LMF1 * Lipodystrophy, congenital generalized, type 1; ; AGPAT2 * Lipodystrophy, congenital generalized, type 2; ; BSCL2 * Lipodystrophy, congenital generalized, type 3; ; CAV1 * Lipodystrophy, congenital generalized, type 4; ; PTRF * Lipodystrophy, familial partial; ; LMNA * Lipodystrophy, familial partial, type 3; ; PPARG * Lipodystrophy, partial, acquired; ; LMNB2 * Lipoid adrenal hyperplasia; ; STAR * Lipoid congenital adrenal hyperplasia; ; CYP11A * Lipoid proteinosis; ; ECM1 * Lipoprotein glomerulopathy; ; APOE * Lipoprotein lipase deficiency; ; LPL * Lissencephaly 3; ; TUBA1A * Lissencephaly syndrome, Norman-Roberts type; ; RELN * Lissencephaly, X-linked 2; ; ARX * Lissencephaly, X-linked; ; DCX * Lissencephaly-1; ; PAFAH1B1 * Liver failure, acute infantile; ; TRMU * Loeys-Dietz syndrome, type 1A; ; TGFBR1 * Loeys-Dietz syndrome, type 1B; ; TGFBR2 * Loeys-Dietz syndrome, type 2A; ; TGFBR1 * Loeys-Dietz syndrome, type 2B; ; TGFBR2 * Long QT syndrome 12; ; SNT1 * Long QT syndrome 13; ; KCNJ5 * Long QT syndrome-1; ; KCNQ1 * Long QT syndrome-10; ; SCN4B * Long QT syndrome-11; ; AKAP9 * Long QT syndrome-3; ; SCN5A * Long QT syndrome-4; ; ANK2 * Long QT syndrome-7; ; KCNJ2 * Long QT syndrome-9; ; CAV3 * Lowe syndrome; ; OCRL * Lujan-Fryns syndrome; ; MED12 * Lung cancer; ; DLEC1 * Lung cancer; ; RASSF1 * Lung cancer; ; KRAS * Lung cancer; ; PPP2R1B * Lung cancer; ; SLC22A1L * Lung cancer, somatic; ; MAP3K8 * Luteinizing hormone resistance, female; ; LHCGR * Lymphangioleiomyomatosis; ; TSC1 * Lymphangioleiomyomatosis, somatic; ; TSC2 * Lymphedema, hereditary I; ; FLT4 * Lymphedema, hereditary, IC; ; GJC2 * Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; ; FOXC2 * Lymphedema-distichiasis syndrome; ; FOXC2 * Lymphoma, non-Hodgkin; ; PRF1 * Lymphoma, non-Hodgkin, somatic; ; RAD54L * Lymphoproliferative syndrome, EBV-associated, autosomal, 1; ; ITK * Lymphoproliferative syndrome, X-linked, 2; ; BIRC4 * Lymphoproliferative syndrome, X-linked; ; SH2D1A * Lysinuric protein intolerance; ; SLC7A7 * Lysosomal acid phosphatase deficiency; ; ACP2 * Lysyl hydroxylase 3 deficiency; ; PLOD3 * Machado-Joseph disease; ; ATXN3 * Macrocephaly, alopecia, cutis laxa, and scoliosis; ; RIN2 * Macrocephaly/autism syndrome; ; PTEN * Macrocytic anemia, refractory, due to 5q deletion, somatic; ; RPS14 * Macrothrombocytopenia and progressive sensorineural deafness; ; MYH9 * Macrothrombocytopenia; ; GATA1 * Macrothrombocytopenia, autosomal dominant, TUBB1-related; ; TUBB1 * Macular corneal dystrophy; ; CHST6 * Macular degeneration, age-related, 11; ; CST3 * Macular degeneration, age-related, 2; ; ABCA4 * Macular degeneration, age-related, 3; ; FBLN5 * Macular degeneration juvenile; ; CNGB3 * Macular dystrophy, autosomal dominant, chromosome 6-linked; ; ELOVL4 * Macular dystrophy, patterned; ; PRPH2 * Macular dystrophy, retinal, 2; ; PROM1 * Macular dystrophy, vitelliform; ; PRPH2 * Majeed syndrome; ; LPIN2 * Major depressive disorder 1; ; MDD1 * Major depressive disorder 2; ; MDD2 * Male infertility with large-headed, multiflagellar, polyploid spermatozoa; ; STK13 * Male infertility, nonsyndromic, autosomal recessive; ; CATSPER1 * Malonyl-CoA decarboxylase deficiency; ; MLYCD * Mandibuloacral dysplasia with type B lipodystrophy; ; ZMPSTE24 * Mandibuloacral dysplasia; ; LMNA * Mannosidosis, alpha-, types I and II; ; MAN2B1 * Mannosidosis, beta; ; MANBA * Maple syrup urine disease, type Ia; ; BCKDHA * Maple syrup urine disease, type Ib; ; BCKDHB * Maple syrup urine disease, type II; ; DBT * Maple syrup urine disease, type III; ; DLD * Marfan syndrome; ; FBN1 * Marinesco-Sjogren syndrome; ; SIL1 * Maroteaux-Lamy syndrome, several forms; ; ARSB * Marshall syndrome; ; COL11A1 * Martsolf syndrome; ; RAB3GAP2 * MASA syndrome; ; L1CAM * MASS syndrome; ; FBN1 * Mast syndrome; ; ACP33 * Maturity-onset diabetes of the young 6; ; NEUROD1 * Maturity-onset diabetes of the young, type 10; ; INS * Maturity-onset diabetes of the young, type 11; ; BLK * Maturity-onset diabetes of the young, type IX; ; PAX4 * Maturity-onset diabetes of the young, type VII; ; KLF11 * Maturity-onset diabetes of the young, type VIII; ; CEL * May-Hegglin anomaly; ; MYH9 * McArdle disease; ; PYGM * McCune-Albright syndrome; ; GNAS * McKusick-Kaufman syndrome; ; MKKS * Meacham syndrome; ; WT1 * Meckel syndrome 7; ; NPHP3 * Meckel syndrome type 4; ; CEP290 * Meckel syndrome, type 1; ; MKS1 * Meckel syndrome, type 3; ; TMEM67 * Meckel syndrome, type 5; ; RPGRIP1L * Meckel syndrome, type 6; ; CC2D2A * Medullary cystic kidney disease 2; ; UMOD * Medullary thyroid carcinoma; ; RET * Medullary thyroid carcinoma, familial; ; NTRK1 * Medulloblastoma; ; PTCH2 * Medulloblastoma, desmoplastic; ; SUFU * Meesmann corneal dystrophy; ; KRT12 * Meesmann corneal dystrophy; ; KRT3 * Megalencephalic leukoencephalopathy with subcortical cysts; ; MLC1 * Megaloblastic anemia-1, Finnish type; ; CUBN * Megaloblastic anemia-1, Norwegian type; ; AMN * Melanoma and neural system tumor syndrome; ; CDKN2A * Melanoma; ; CDK4 * Melanoma, cutaneous malignant, 2; ; CDKN2A * Meleda disease; ; SLURP1 * Melnick-Needles syndrome; ; FLNA * Melorheostosis with osteopoikilosis; ; LEMD3 * Membranoproliferative glomerulonephritis with CFH deficiency; ; HF1 * Meningioma; ; MN1 * Meningioma, NF2-related, somatic; ; NF2 * Menkes disease; ; ATP7A * Mental retardation and microcephaly with pontine and cerebellar hypoplasia; ; CASK * Mental retardation in cri-du-chat syndrome; ; CTNND2 * Mental retardation syndrome, X-linked, Cabezas type; ; CUL4B * Mental retardation syndrome, X-linked, Siderius type; ; PHF8 * Mental retardation, autosomal dominant 1; ; MBD5 * Mental retardation, autosomal dominant 3; ; CDH15 * Mental retardation, autosomal dominant 4; ; KIRREL3 * Mental retardation, autosomal dominant 5; ; SYNGAP * Mental retardation, autosomal recessive 1; ; PRSS12 * Mental retardation, autosomal recessive 13; ; TRAPPC9 * Mental retardation, autosomal recessive 2A; ; CRBN * Mental retardation, autosomal recessive 3; ; CC2D1A * Mental retardation, autosomal recessive 7; ; TUSC3 * Mental retardation, autosomal recessive, 6; ; GRIK2 * Mental retardation, FRA12A type; ; DIP2B * Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities; ; PYCS * Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; ; MEF2C * Mental retardation, truncal obesity, retinal dystrophy, and micropenis; ; INPP5E * Mental retardation, X-linked 1; ; IQSEC2 * Mental retardation, X-linked 17/31, microduplication; ; HSD17B10 * Mental retardation, X-linked 30; ; PAK3 * Mental retardation, X-linked 36/43/54; ; ARX * Mental retardation, X-linked 45; ; ZNF81 * Mental retardation, X-linked 58; ; TM4SF2 * Mental retardation, X-linked 59; ; AP1S2 * Mental retardation, X-linked 93; ; BRWD3 * Mental retardation, X-linked 94; ; GRIA3 * Mental retardation, X-linked 95; ; MAGT1 * Mental retardation, X-linked nonspecific; ; GDI1 * Mental retardation, X-linked nonspecific, 63; ; ACSL4 * Mental retardation, X-linked nonspecific, type 46; ; ARHGEF6 * Mental retardation, X-linked syndromic 10; ; HSD17B10 * Mental retardation, X-linked syndromic, Christianson type; ; SLC9A6 * Mental retardation, X-linked syndromic, Turner type; ; HUWE1 * Mental retardation, X-linked, 21/34; ; IL1RAPL1 * Mental retardation, X-linked; ; NLGN4 * Mental retardation, X-linked, FRAXE type; ; AFF2 * Mental retardation, X-linked, Lubs type; ; MECP2 * Mental retardation, X-linked, Snyder-Robinson type; ; SMS * Mental retardation, X-linked, syndromic 13; ; MECP2 * Mental retardation, X-linked, syndromic 14; ; UPF3B * Mental retardation, X-linked, syndromic, JARID1C-related; ; KDM5C * Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance; ; OPHN1 * Mental retardation, X-linked, with epilepsy; ; ATP6AP2 * Mental retardation, X-linked, with isolated growth hormone deficiency; ; SOX3 * Mental retardation, X-linked, with or without epilepsy; ; SYP * Mental retardation, X-linked, ZDHHC9-related; ; ZDHHC9 * Mental retardation, X-linked-72; ; RAB39B * Mental retardation, X-linked-9; ; FTSJ1 * Mental retardation, X-linked-91; ; ZDHHC15 * Mental retardation-hypotonic facies syndrome, X-linked, 2; ; CUL4B * Mental retardation-hypotonic facies syndrome, X-linked; ; ATRX * Mephenytoin poor metabolizer; ; CYP2C * Metachondromatosis; ; PTPN11 * Metachromatic leukodystrophy due to SAP-b deficiency; ; PSAP * Metachromatic leukodystrophy; ; ARSA * Metaphyseal anadysplasia 1; ; MMP13 * Metaphyseal anadysplasia 2; ; MMP9 * Metaphyseal chondrodysplasia, Murk Jansen type; ; PTHR1 * Metaphyseal dysplasia without hypotrichosis; ; RMRP * Metatropic dysplasia; ; TRPV4 * Methemoglobinemia, type I; ; CYB5R3 * Methemoglobinemia, type II; ; CYB5R3 * Methemoglobinemia, type IV; ; CYB5A * Methionine adenosyltransferase deficiency, autosomal recessive; ; MAT1A * Methylcobalamin deficiency, cblG type; ; MTR * Methylmalonic aciduria and homocystinuria, cblC type; ; MMACHC * Methylmalonic aciduria and homocystinuria, cblD type; ; C2orf25 * Methylmalonic aciduria and homocystinuria, cblF type; ; LMBRD1 * Methylmalonic aciduria due to transcobalamin receptor defect; ; CD320 * Methylmalonic aciduria, cblD type, variant 2; ; C2orf25 * Methylmalonic aciduria, vitamin B12-responsive; ; MMAA * Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; ; MMAB * Methylmalonyl-CoA epimerase deficiency; ; MCEE * Mevalonic aciduria; ; MVK * MHC class II deficiency, complementation group B; ; RFXANK * Micochondrial phosphate carrier deficiency; ; SLC25A3 * Microcephalic osteodysplastic primordial dwarfism type II; ; PCNT * Microcephaly and digital abnormalities with normal intelligence; ; MYCN * Microcephaly, Amish type; ; SLC25A19 * Microcephaly, autosomal recessive 1; ; MCPH1 * Microcephaly, primary autosomal recessive, 2; ; MCPH2 * Microcephaly, primary autosomal recessive, 3; ; CDK5RAP2 * Microcephaly, primary autosomal recessive, 4; ; MCPH4 * Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern; ; ASPM * Microcephaly, primary autosomal recessive, 6; ; CEMPJ * Microcephaly, primary autosomal recessive, 7; ; STIL * Microcephaly, seizures, and developmental delaty; ; PNKP * Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma; ; BEST1 * Microphthalmia, isolated 2; ; CHX10 * Microphthalmia, isolated 3; ; RAX * Microphthalmia, isolated 4; ; GDF6 * Microphthalmia, isolated 5; ; MFRP * Microphthalmia, isolated, with cataract 2; ; SIX6 * Microphthalmia, isolated, with cataract 4; ; CRYBA4 * Microphthalmia, isolated, with coloboma 3; ; CHX10 * Microphthalmia, isolated, with coloboma 5; ; SHH * Microphthalmia, syndromic 2; ; BCOR * Microphthalmia, syndromic 3; ; SOX2 * Microphthalmia, syndromic 5; ; OTX2 * Microphthalmia, syndromic 6; ; BMP4 * Microphthalmia, syndromic 7; ; HCCS * Microphthalmia, syndromic 9; ; STRA6 * Microtia, hearing impairment, and cleft palate; ; HOXA2 * Microvillus inclusion disease; ; MYO5B * Migraine, familial basilar; ; ATP1A2 * Migraine, familial hemiplegic, 2; ; ATP1A2 * Migraine, familial hemiplegic, 3; ; SCN1A * Migraine, resistance to; ; EDNRA * Miller syndrome; ; DHODH * Minicore myopathy with external ophthalmoplegia; ; RYR1 * Mirror movements, congenital; ; DCC * Mirror-image polydactyly; ; MIPOL1 * Mismatch repair cancer syndrome; ; MLH1 * Mismatch repair cancer syndrome; ; MSH2 * Mismatch repair cancer syndrome; ; MSH6 * Mismatch repair cancer syndrome; ; PMS2 * Mitochondrial complex 1 deficiency; ; C20orf7 * Mitochondrial complex I deficiency; ; NDUFA1 * Mitochondrial complex I deficiency; ; NDUFA11 * Mitochondrial complex I deficiency; ; NDUFAF2 * Mitochondrial complex I deficiency; ; NDUFAF3 * Mitochondrial complex I deficiency; ; NDUFAF4 * Mitochondrial complex I deficiency; ; NDUFS1 * Mitochondrial complex I deficiency; ; NDUFS2 * Mitochondrial complex I deficiency; ; NDUFS4 * Mitochondrial complex I deficiency; ; NDUFV1 * Mitochondrial complex I deficiency; ; NDUFV2 * Mitochondrial complex II deficiency; ; SDHAF1 * Mitochondrial complex III deficiency; ; BCS1L * Mitochondrial complex III deficiency; ; UQCRB * Mitochondrial complex III deficiency; ; UQCRQ * Mitochondrial complex IV deficiency; ; FASTKD2 * Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria; ; SUCLA2 * Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; ; RRM2B * Mitochondrial DNA depletion syndrome, hepatocerebral form; ; C10orf2 * Mitochondrial DNA depletion syndrome, hepatocerebral form; ; MPV17 * Mitochondrial DNA depletion syndrome, myopathic form; ; TK2 * Mitochondrial DNA-depletion syndrome, hepatocerebral form; ; DGUOK * Mitochondrial myopathy and sideroblastic anemia; ; PUS1 * Mitochondrial neurogastrointestinal encephalomyopathy syndrome; ; TYMP * Mitochondrial respiratory chain complex II deficiency; ; SDHA * Miyoshi muscular dystrophy 3; ; ANO5 * Miyoshi myopathy; ; DYSF * MNGIE without leukoencephalopathy; ; POLG * MODY, type I; ; HNF4A * MODY, type II; ; GCK * MODY, type III; ; HNF1A * MODY, type IV; ; IPF1 * Mohr-Tranebjaerg syndrome; ; TIMM8A * Molybdenum cofactor deficiency, type A; ; MOCS1 * Molybdenum cofactor deficiency, type B; ; MOCS2 * Molybdenum cofactor deficiency, type C; ; GPHN * Monilethrix; ; KRT81 * Monilethrix; ; KRT83 * Monilethrix; ; KRT86 * Mononeuropathy of the median nerve, mild; ; SH3TC2 * Morning glory disc anomaly; ; PAX6 * Morquio syndrome B; ; GLB1 * Mosaic variegated aneuploidy syndrome; ; BUB1B * Mowat-Wilson syndrome; ; ZEB2 * Muckle-Wells syndrome; ; NLRP3 * Mucolipidosis II alpha/beta; ; GNPTAB * Mucolipidosis III alpha/beta; ; GNPTAB * Mucolipidosis III gamma; ; GNPTAG * Mucolipidosis IV; ; MCOLN1 * Mucopolysaccharidosis Ih; ; IDUA * Mucopolysaccharidosis Ih/s; ; IDUA * Mucopolysaccharidosis Is; ; IDUA * Mucopolysaccharidosis IVA; ; GALNS * Mucopolysaccharidosis type IIID; ; GNS * Mucopolysaccharidosis type IX; ; HYAL1 * Mucopolysaccharidosis VII; ; GUSB * Muenke syndrome; ; FGFR3 * Muir-Torre syndrome; ; MLH1 * Muir-Torre syndrome; ; MSH2 * Mulibrey nanism; ; TRIM37 * Mullerian aplasia and hyperandrogenism; ; WNT4 * Multiple cutaneous and uterine leiomyomata; ; FH * Multiple endocrine neoplasia IIA; ; RET * Multiple endocrine neoplasia IIB; ; RET * Multiple endocrine neoplasia, type IV; ; CDKN1B * Multiple pterygium syndrome, lethal type; ; CHRNA1 * Multiple pterygium syndrome, lethal type; ; CHRND * Multiple pterygium syndrome, lethal type; ; CHRNG * Multiple sulfatase deficiency; ; SUMF1 * Multiple synostoses syndrome 3; ; FGF9 * Muscle glycogenosis; ; PHKA1 * Muscular dystrophy with epidermolysis bullosa simplex; ; PLEC1 * Muscular dystrophy, congenital merosin-deficient; ; LAMA2 * Muscular dystrophy, congenital, due to ITGA7 deficiency; ; ITGA7 * Muscular dystrophy, congenital, due to partial LAMA2 deficiency; ; LAMA2 * Muscular dystrophy, limb-girdle, type 1A; ; TTID * Muscular dystrophy, limb-girdle, type 1B; ; LMNA * Muscular dystrophy, limb-girdle, type 2A; ; CAPN3 * Muscular dystrophy, limb-girdle, type 2B; ; DYSF * Muscular dystrophy, limb-girdle, type 2C; ; SGCG * Muscular dystrophy, limb-girdle, type 2D; ; SGCA * Muscular dystrophy, limb-girdle, type 2E; ; SGCB * Muscular dystrophy, limb-girdle, type 2F; ; SGCD * Muscular dystrophy, limb-girdle, type 2G; ; TCAP * Muscular dystrophy, limb-girdle, type 2H; ; TRIM32 * Muscular dystrophy, limb-girdle, type 2J; ; TTN * Muscular dystrophy, limb-girdle, type 2L; ; ANO5 * Muscular dystrophy, limb-girdle, type IC; ; CAV3 * Muscular dystrophy, rigid spine, 1; ; SEPN1 * Myasthenia, limb-girdle, familial; ; AGRN * Myasthenia, limb-girdle, familial; ; DOK7 * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; CHRNB1 * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; CHRNE * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; MUSK * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; ; RAPSN * Myasthenic syndrome, congenital, associated with episodic apnea; ; CHAT * Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency; ; RAPSN * Myasthenic syndrome, fast-channel congenital; ; CHRNA1 * Myasthenic syndrome, fast-channel congenital; ; CHRND * Myasthenic syndrome, fast-channel congenital; ; CHRNE * Myasthenic syndrome, slow-channel congenital; ; CHRNA1 * Myasthenic syndrome, slow-channel congenital; ; CHRNB1 * Myasthenic syndrome, slow-channel congenital; ; CHRND * Myasthenic syndrome, slow-channel congenital; ; CHRNE * Mycobacterial infection, atypical, familial disseminated; ; IFNGR1 * Mycobacterial infection, atypical, familial disseminated; ; STAT1 * Myelofibrosis, idiopathic; ; JAK2 * Myeloperoxidase deficiency; ; MPO * Myeloproliferative disorder with eosinophilia; ; PDGFRB * Myoclonic epilepsy, severe, of infancy; ; GABRG2 * Myoglobinuria, acute recurrent, autosomal recessive; ; LPIN1 * Myokymia with neonatal epilepsy; ; KCNQ2 * Myopathy due to CPT II deficiency; ; CPT2 * Myopathy with lactic acidosis, hereditary; ; ISCU * Myopathy, actin, congenital, with excess of thin myofilaments; ; ACTA1 * Myopathy, cardioskeletal, desmin-related, with cataract; ; CRYAB * Myopathy, centronuclear; ; DNM2 * Myopathy, centronuclear; ; MYF6 * Myopathy, centronuclear, autosomal recessive; ; BIN1 * Myopathy, congenital, Compton-North; ; CNTN1 * Myopathy, congenital, with fiber-type disproportion 1; ; ACTA1 * Myopathy, desmin-related, cardioskeletal; ; DES * Myopathy, distal 2; ; MATR3 * Myopathy, distal, with anterior tibial onset; ; DYSF * Myopathy, early-onset, with fatal cardiomyopathy; ; TTN * Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; ; GFER * Myopathy, myofibrillar, BAG3-related; ; BAG3 * Myopathy, myofibrillar, filamin C-related; ; FLNC * Myopathy, myofibrillar, ZASP-related; ; LDB3 * Myopathy, myosin storage; ; MYH7 * Myopathy, nemaline, 3; ; ACTA1 * Myopathy, proximal, with early respiratory muscle involvement; ; TTN * Myopathy, reducing body, X-linked, childhood-onset; ; FHL1 * Myopathy, reducing body, X-linked, severe early-onset; ; FHL1 * Myopathy, spheroid body; ; TTID * Myopathy, X-linked, with postural muscle atrophy; ; FHL1 * Myosclerosis, congenital; ; COL6A2 * Myotilinopathy; ; TTID * Myotonia congenita, atypical, acetazolamide-responsive; ; SCN4A * Myotonia congenita, dominant; ; CLCN1 * Myotonia congenita, recessive; ; CLCN1 * Myotonic dystrophy; ; DMPK * Myotonic dystrophy, type 2; ; ZNF9 * Myotubular myopathy, X-linked; ; MTM1 * Myxoid liposarcoma; ; DDIT3 * Myxoma, intracardiac; ; PRKAR1A * N syndrome; ; POLA * N-acetylglutamate synthase deficiency; ; NAGS * Naegeli-Franceschetti-Jadassohn syndrome; ; KRT14 * Nail-patella syndrome; ; LMX1B * Nance-Horan syndrome; ; NHS * Narcolepsy 1; ; HCRT * Nasopharyngeal carcinoma; ; TP53 * Nasu-Hakola disease; ; TREM2 * Nasu-Hakola disease; ; TYROBP * Naxos disease; ; JUP * Nemaline myopathy 1, autosomal dominant; ; TPM3 * Nemaline myopathy 2, autosomal recessive; ; NEB * Nemaline myopathy 7; ; CFL2 * Nemaline myopathy; ; TPM2 * Nemaline Myopathy, Amish Type; ; TNNT1 * Nephrogenic syndrome of inappropriate antidiuresis; ; AVPR2 * Nephrolithiasis, type I; ; CLCN5 * Nephrolithiasis/osteoporosis, hypophosphatemic, 1; ; SLC34A1 * Nephrolithiasis/osteoporosis, hypophosphatemic, 2; ; SLC9A3R1 * Nephronophthisis 1, juvenile; ; NPHP1 * Nephronophthisis 2, infantile; ; INVS * Nephronophthisis 3; ; NPHP3 * Nephronophthisis 4; ; NPHP4 * Nephronophthisis 7; ; GLIS2 * Nephropathy with pretibial epidermolysis bullosa and deafness; ; CD151 * Nephrosis, congenital, with or without ocular abnormalities; ; LAMB2 * Nephrotic syndrome, type 1; ; NPHS1 * Nephrotic syndrome, type 2; ; PDCN * Nephrotic syndrome, type 3; ; PLCE1 * Nephrotic syndrome, type 4; ; WT1 * Netherton syndrome; ; SPINK5 * Neural tube defects; ; VANGL1 * Neuroblastoma; ; NME1 * Neurodegeneration due to cerebral folate transport deficiency; ; FOLR1 * Neurodegeneration with brain iron accumulation 1; ; PANK2 * Neurodegeneration with brain iron accumulation 2B; ; PLA2G6 * Neurodegeneration with brain iron accumulation 3; ; FTL * Neuroepithelioma; ; EWSR1 * Neurofibromatosis, familial spinal; ; NF1 * Neurofibromatosis type 1; ; NF1 * Neurofibromatosis type 2; ; NF2 * Neurofibromatosis-Noonan syndrome; ; NF1 * Neuromuscular disease, congenital, with uniform type 1 fiber; ; RYR1 * Neuronopathy, distal hereditary motor, type IIC; ; HSPB3 * Neuronopathy, distal hereditary motor, type VI; ; IGHMBP2 * Neuropathy, congenital hypomyelinating, 1; ; EGR2 * Neuropathy, congenital hypomyelinating; ; MPZ * Neuropathy, distal hereditary motor, type IIA; ; HSPB8 * Neuropathy, distal hereditary motor, type IIB; ; HSPB1 * Neuropathy, distal hereditary motor, type V; ; BSCL2 * Neuropathy, distal hereditary motor, type V; ; GARS * Neuropathy, distal hereditary motor, type VIIB; ; DCTN1 * Neuropathy, hereditary sensory and autonomic, type 1; ; SPTLC1 * Neuropathy, hereditary sensory and autonomic, type II; ; WNK1 * Neuropathy, hereditary sensory and autonomic, type IIB; ; FAM134B * Neuropathy, hereditary sensory and autonomic, type V; ; NGFB * Neuropathy, hereditary sensory, with spastic paraplegia; ; CCT5 * Neuropathy, hereditary sensory/autonomic, type IC; ; SPTLC2 * Neuropathy, recurrent, with pressure palsies; ; PMP22 * Neutral lipid storage disease with myopathy; ; PNPLA2 * Neutropenia, nonimmune chronic idiopathic, of adults; ; GFI1 * Neutropenia, severe congenital, autosomal dominant 1; ; ELANE * Neutropenia, severe congenital, autosomal dominant 2; ; GFI1 * Neutropenia, severe congenital, autosomal recessive 3; ; HAX1 * Neutropenia, severe congenital, autosomal recessive 4; ; G6PC3 * Neutropenia, severe congenital, X-linked; ; WAS * Neutrophil immunodeficiency syndrome; ; RAC2 * Neutrophilia, hereditary; ; CSF3R * Nevo syndrome; ; PLOD * Nevus, epidermal; ; PIK3CA * Nevus, epidermal, epidermolytic hyperkeratotic type; ; KRT10 * Nevus, keratinocytic, nonepidermolytic; ; FGFR3 * Newfoundland rod-cone dystrophy; ; RLBP1 * Niemann-Pick disease, type A; ; SMPD1 * Niemann-Pick disease, type B; ; SMPD1 * Niemann-Pick disease, type C1; ; NPC1 * Niemann-pick disease, type C2; ; NPC2 * Niemann-Pick disease type D; ; NPC1 * Night blindness, congenital stationary, autosomal dominant 2; ; PDE6B * Night blindness, congenital stationary, autosomal dominant 3; ; GNAT1 * Night blindness, congenital stationary, type 1; ; CSNB1 * Night blindness, congenital stationary, type 1B; ; GRM6 * Night blindness, congenital stationary, type 2B; ; CABP4 * Night blindness, congenital stationary, type IC; ; TRPM1 * Night blindness, congenital stationary, X-linked, type 2A; ; CACNA1F * Night blindness, congenital stationery, autosomal dominant 1; ; RHO * Nijmegen breakage syndrome; ; NBS1 * Nijmegen breakage syndrome-like disorder; ; RAD50 * Nonaka Myopathy; ; GNE * Non-Hodgkin lymphoma, somatic; ; CASP10 * Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in; ; EGFR * Nonsmall cell lung cancer, somatic; ; IRF1 * Nonsmall cell lung cancer, somatic; ; PIK3CA * Noonan syndrome 1; ; PTPN11 * Noonan syndrome 3; ; KRAS * Noonan syndrome 4; ; SOS1 * Noonan syndrome 5; ; RAF1 * Noonan syndrome 6; ; NRAS * Noonan-like syndrome with loose anagen hair; ; SHOC2 * Norrie disease; ; NDP * Norum disease; ; LCAT * Nystagmus 1, congenital, X-linked; ; FRMD7 * Nystagmus 6, congenital, X-linked; ; GPR143 * Obesity with impaired prohormone processing; ; PCSK1 * Obesity, adrenal insufficiency, and red hair due to POMC deficiency; ; POMC * Obesity, autosomal dominant; ; MC4R * Obesity, mild, early-onset; ; NR0B2 * Obesity, severe; ; PPARG * Obesity, severe; ; SIM1 * Occipital horn syndrome; ; ATP7A * Ocular albinism, type I, Nettleship-Falls type; ; GPR143 * Oculoauricular syndrome; ; HMX1 * Oculocutaneous albinism, type IV; ; SLC45A2 * Oculodentodigital dysplasia; ; GJA1 * Oculodentodigital dysplasia, autosomal recessive; ; GJA1 * Oculopharyngeal muscular dystrophy; ; PABPN1 * Odontohypophosphatasia; ; ALPL * Odontoonychodermal dysplasia; ; WNT10A * Ogden Syndrome; ; NAA10 * Oguchi disease-1; ; SAG * Oguchi disease-2; ; GRK1 * OI type II; ; COL1A1 * OI type III; ; COL1A1 * OI type IV; ; COL1A1 * Oligodontia-colorectal cancer syndrome; ; AXIN2 * Omenn syndrome; ; DCLRE1C * Omenn syndrome; ; RAG1 * Omenn syndrome; ; RAG2 * Omodysplasia 1; ; GPC6 * Opitz G syndrome, type I; ; MID1 * Opitz-Kaveggia syndrome; ; MED12 * Opremazole poor metabolizer; ; CYP2C * Optic atrophy 1; ; OPA1 * Optic atrophy and cataract; ; OPA3 * Optic atrophy and deafness; ; OPA1 * Optic atrophy-7; ; TMEM126A * Optic nerve coloboma with renal disease; ; PAX2 * Optic nerve hypoplasia and abnormalities of the central nervous system; ; SOX2 * Optic nerve hypoplasia; ; PAX6 * Oral-facial-digital syndrome 1; ; OFD1 * Ornithine transcarbamylase deficiency; ; OTC * Orofacial cleft 11; ; BMP4 * Orofacial cleft 5; ; MSX1 * Orofacial cleft 6; ; IRF6 * Orofacial cleft 7; ; HVEC * Orofacial cleft 8; ; TP63 * Orthostatic intolerance; ; SLC6A2 * Osseous heteroplasia, progressive; ; GNAS * Ossification of posterior longitudinal ligament of spine; ; ENPP1 * Osteoarthritis with mild chondrodysplasia; ; COL2A1 * Osteochondritis dissecans, short stature, and early-onset osteoarthritis; ; ACAN * Osteogenesis imperfecta, type I; ; COL1A1 * Osteogenesis imperfecta, type II; ; COL1A2 * Osteogenesis imperfecta, type IIB; ; CRTAP * Osteogenesis imperfecta, type III; ; COL1A2 * Osteogenesis imperfecta, type IV; ; COL1A2 * Osteogenesis imperfecta, type IX; ; PPIB * Osteogenesis imperfecta, type VI; ; FKBP10 * Osteogenesis imperfecta, type VII; ; CRTAP * Osteogenesis imperfecta, type VIII; ; LEPRE1 * Osteoglophonic dysplasia; ; FGFR1 * Osteolysis, familial expansile; ; TNFRSF11A * Osteopathia striata with cranial sclerosis; ; FAM123B * Osteopetrosis, AD type I; ; LRP5 * Osteopetrosis, autosomal dominant 2; ; CLCN7 * Osteopetrosis, autosomal recessive 2; ; TNFSF11 * Osteopetrosis, autosomal recessive 3, with renal tubular acidosis; ; CA2 * Osteopetrosis, autosomal recessive 4; ; CLCN7 * Osteopetrosis, autosomal recessive 5; ; OSTM1 * Osteopetrosis, autosomal recessive 6; ; PLEKHM1 * Osteopetrosis, autosomal recessive 7; ; TNFRSF11A * Osteopetrosis, recessive 1; ; TCIRG1 * Osteopoikilosis; ; LEMD3 * Osteoporosis, involutional; ; VDR * Osteoporosis-pseudoglioma syndrome; ; LRP5 * Osteosarcoma; ; LOH18CR1 * Osteosarcoma; ; RB1 * Osteosarcoma; ; TP53 * Osteosarcoma, somatic; ; CHEK2 * Osteosclerosis; ; LRP5 * Otofaciocervical syndrome; ; EYA1 * Otopalatodigital syndrome, type I; ; FLNA * Otopalatodigital syndrome, type II; ; FLNA * Otospondylomegaepiphyseal dysplasia; ; COL11A2 * Ovarian cancer; ; CTNNB1 * Ovarian cancer, somatic; ; AKT1 * Ovarian cancer, somatic; ; PIK3CA * Ovarian dysgenesis 1; ; FSHR * Ovarian dysgenesis 2; ; BMP15 * Ovarian hyperstimulation syndrome; ; FSHR * Ovarian response to FSH stimulation; ; FSHR * Ovarioleukodystrophy; ; EIF2B2 * Ovarioleukodystrophy; ; EIF2B4 * Ovarioleukodystrophy; ; EIF2B5 * Pachyonychia congenita Jackson Lawler type; ; KRT17 * Pachyonychia congenita Jackson Lawler type; ; KRT6B * Pachyonychia congenita, Jadassohn-Lewandowsky type; ; KRT16 * Pachyonychia congenita, Jadassohn-Lewandowsky type; ; KRT6A * Paget disease of bone; ; PDB4 * Paget disease of bone; ; SQSTM1 * Paget disease of bone; ; TNFRSF11A * Paget disease, juvenile; ; TNFRSF11B * Pallister-Hall syndrome; ; GLI3 * Palmoplantar hyperkeratosis and true hermaphroditism; ; RSPO1 * Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; ; RSPO1 * Palmoplantar keratoderma, nonepidermolytic; ; KRT16 * Palmoplantar keratoderma, nonepidermolytic, focal; ; KRT16 * Palmoplantar verrucous nevus, unilateral; ; KRT16 * Pancreatic agenesis; ; IPF1 * Pancreatic cancer; ; TP53 * Pancreatic cancer; ; BRCA2 * Pancreatic cancer/melanoma syndrome; ; CDKN2A * Pancreatic carcinoma, somatic; ; KRAS * Pancreatitis, hereditary; ; PRSS1 * Pancreatitis, hereditary; ; SPINK1 * Panhypopituitarism, X-linked; ; SOX3 * Papillon-Lefevre syndrome; ; CTSC * Paraganglioma and gastric stromal sarcoma; ; SDHB * Paraganglioma and gastric stromal sarcoma; ; SDHC * Paraganglioma and gastric stromal sarcoma; ; SDHD * Paraganglioma, familial chromaffin, 4; ; SDHB * Paragangliomas 2; ; SDHAF2 * Paragangliomas, familial nonchromaffin, 1, with or without deafness; ; SDHD * Paragangliomas, familial nonchromaffin, 3; ; SDHC * Paramyotonia congenita; ; SCN4A * Parathyroid adenoma with cystic changes; ; HRPT2 * Parathyroid carcinoma; ; HRPT2 * Parietal foramina 1; ; MSX2 * Parietal foramina 2; ; ALX4 * Parietal foramina with cleidocranial dysplasia; ; MSX2 * Parkes Weber slndrome; ; RASA1 * Parkinson disease 11; ; GIGYF2 * Parkinson disease 13; ; HTRA2 * Parkinson disease 15, autosomal recessive; ; FBXO7 * Parkinson disease 4; ; SNCA * Parkinson disease 6, early onset; ; PINK1 * Parkinson disease 7, autosomal recessive early-onset; ; DJ1 * Parkinson disease 9; ; ATP13A2 * Parkinson disease, juvenile, type 2; ; PRKN * Parkinson disease-8; ; LRRK2 * Parkinsonism-dystonia, infantile; ; SLC6A3 * Paroxysmal extreme pain disorder; ; SCN9A * Paroxysmal nocturnal hemoglobinuria, somatic; ; PIGA * Paroxysmal nonkinesigenic dyskinesia; ; MR1 * Partington syndrome; ; ARX * PCWH syndrome; ; SOX10 * Peeling skin syndrome, acral type; ; TGM5 * Pelger-Huet anomaly; ; LBR * Pelizaeus-Merzbacher disease; ; PLP1 * Pendred syndrome; ; SLC26A4 * Pentosuria; ; DCXR * Periodic fever, familial; ; TNFRSF1A * Periodontitis, juvenile; ; CTSC * Periventricular heterotopia with microcephaly; ; ARFGEF2 * Peroxisomal acyl-CoA oxidase deficiency; ; ACOX1 * Perry syndrome; ; DCTN1 * Persistent Mullerian duct syndrome, type I; ; AMH * Persistent Mullerian duct syndrome, type II; ; AMHR2 * Persistent truncus arteriosus; ; NKX2-6 * Peters anomaly; ; CYP1B1 * Peters anomaly; ; PAX6 * Peters anomaly; ; PITX2 * Peters-plus syndrome; ; B3GALTL; B3GTL * Peutz-Jeghers syndrome; ; STK11 * Pfeiffer syndrome; ; FGFR1 * Pfeiffer syndrome; ; FGFR2 * Phenylketonuria; ; PAH * Pheochromocytoma; ; KIF1B * Pheochromocytoma; ; RET * Pheochromocytoma; ; SDHB * Pheochromocytoma; ; SDHD * Pheochromocytoma; ; VHL * Phosphoglycerate dehydrogenase deficiency; ; PHGDH * Phosphoglycerate kinase 1 deficiency; ; PGK1 * Phosphoribosylpyrophosphate synthetase superactivity; ; PRPS1 * Phosphorylase kinase deficiency of liver and muscle, autosomal recessive; ; PHKB * Phosphoserine aminotransferase deficiency; ; PSAT1 * Pick disease; ; MAPT * Pick disease; ; PSEN1 * Piebaldism; ; SNAI2 * Pierson syndrome; ; LAMB2 * Pigmented adrenocortical disease, primary, 1; ; PRKAR1A * Pigmented nodular adrenocortical disease, primary, 2; ; PDE11A * Pigmented paravenous chorioretinal atrophy; ; CRB1 * Pilomatricoma; ; CTNNB1 * Pitt-Hopkins like syndrome 1; ; CNTNAP2 * Pitt-Hopkins syndrome; ; TCF4 * Pituitary adenoma, ACTH-secreting; ; AIP * Pituitary adenoma, growth hormone-secreting; ; AIP * Pituitary adenoma, prolactin-secreting; ; AIP * Pituitary hormone deficiency, combined, 1; ; POU1F1 * Pituitary hormone deficiency, combined, 2; ; PROP1 * Pituitary hormone deficiency, combined, 3; ; LHX3 * Pituitary hormone deficiency, combined, 4; ; LHX4 * Pituitary hormone deficiency, combined, 5; ; HESX1 * Plamoplantar keratoderma, epidermolytic; ; KRT1 * Plasminogen activator inhibitor, type I; ; PAI1 * Platelet disorder, familial, with associated myeloid malignancy; ; RUNX1 * Platelet glycoprotein IV deficiency; ; CD36 * Pleuropulmonary blastoma; ; DICER1 * Pneumothorax, primary spontaneous; ; FLCN * Poikiloderma with neutropenia; ; C16orf57 * Polycystic kidney and hepatic disease; ; FCYT * Polycystic kidney disease 2; ; PKD2 * Polycystic kidney disease, adult type I; ; PKD1 * Polycystic liver disease; ; PRKCSH * Polycystic liver disease; ; SEC63 * Polycystic ovary syndrome; ; FST * Polycythemia vera; ; JAK2 * Polycythemia, benign familial; ; VHL * Polydactyly, postaxial, types A1 and B; ; GLI3 * Polydactyly, preaxial type II; ; LMBR1 * Polydactyly, preaxial, type IV; ; GLI3 * Polyhydramnios, megalencephaly, and symptomatic epilepsy; ; STRADA * Polymicrogyria with optic nerve hypoplasia; ; TUBA8 * Polymicrogyria, asymmetric; ; TUBB2B * Polymicrogyria, bilateral frontoparietal; ; GPR56 * Polyposis syndrome, hereditary mixed, 2; ; BMPR1A * Polyposis, juvenile intestinal; ; BMPR1A * Polyposis, juvenile intestinal; ; MADH4 * Pontocerebellar hypoplasia type 1; ; VRK1 * Pontocerebellar hypoplasia type 2A; ; TSEN54 * Pontocerebellar hypoplasia type 2B; ; TSEN2 * Pontocerebellar hypoplasia type 2C; ; TSEN34 * Pontocerebellar hypoplasia type 4; ; TSEN54 * Pontocerebellar hypoplasia, type 6; ; RARS2 * Popliteal pterygium syndrome; ; IRF6 * POR deficiency; ; POR * Porencephaly; ; COL4A1 * Porokeratosis, disseminated superficial actinic, 1; ; SART3 * Porphyria cutanea tarda; ; UROD * Porphyria variegata; ; PPOX * Porphyria, acute hepatic; ; ALAD * Porphyria, acute intermittent; ; HMBS * Porphyria, acute intermittent, nonerythroid variant; ; HMBS * Porphyria, congenital erythropoietic; ; UROS * Porphyria, hepatoerythropoietic; ; UROD * Prader-Willi syndrome; ; NDN * Prader-Willi syndrome; ; SNRPN * Precocious puberty, central; ; KISS1R * Precocious puberty, male; ; LHCGR * Premature chromosome condensation with microcephaly and mental retardation; ; MCPH1 * Premature ovarian failure 2B; ; FLJ22792 * Premature ovarian failure 3; ; FOXL2 * Premature ovarian failure 4; ; BMP15 * Premature ovarian failure 5; ; NOBOX * Premature ovarian failure 6; ; FIGLA * Premature ovarian failure 7; ; NR5A1 * Premature ovarian failure; ; DIAPH2 * Primary lateral sclerosis, juvenile; ; ALS2 * Prion disease with protracted course; ; PRNP * Progesterone resistance; ; PGR * Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; ; SLC25A4 * Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; ; C10orf2 * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; ; POLG2 * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5; ; RRM2B * Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadism; ; POLG * Progressive external ophthalmoplegia, autosomal recessive; ; POLG * Progressive familial heart block, type IB; ; TRPM4 * Proguanil poor metabolizer; ; CYP2C * Prolidase deficiency; ; PEPD * Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome; ; FLVCR2 * Properdin deficiency, X-linked; ; PFC * Propionicacidemia; ; PCCA * Propionicacidemia; ; PCCB * Prostate cancer 1, 176807; ; RNASEL * Prostate cancer; ; BRCA2 * Prostate cancer, hereditary; ; MSR1 * Prostate cancer, progression and metastasis of; ; EPHB2 * Prostate cancer, somatic; ; KLF6 * Prostate cancer, somatic; ; MAD1L1 * Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; ; CLCN5 * Protoporphyria, erythropoietic, autosomal dominant; ; FECH * Protoporphyria, erythropoietic, autosomal recessive; ; FECH * Protoporphyria, erythropoietic, X-linked dominant; ; ALAS2 * Proud syndrome; ; ARX * Pseudoachondroplasia; ; COMP * Pseudohermaphroditism, male, with gynecomastia; ; HSD17B3 * Pseudohyperkalemia, familial; ; PIEZO1 * Pseudohypoaldosteronism type I, autosomal dominant; ; NR3C2 * Pseudohypoaldosteronism type II; ; WNK4 * Pseudohypoaldosteronism, type I; ; SCNN1A * Pseudohypoaldosteronism, type I; ; SCNN1B * Pseudohypoaldosteronism, type I; ; SCNN1G * Pseudohypoaldosteronism, type IIC; ; WNK1 * Pseudohypoparathyroidism Ia; ; GNAS * Pseudohypoparathyroidism Ib; ; GNAS * Pseudohypoparathyroidism Ic; ; GNAS * Pseudohypoparathyroidism, type IB; ; GNASAS * Pseudohypoparathyroidism, type IB; ; STX16 * Pseudovaginal perineoscrotal hypospadias; ; SRD5A2 * Pseudoxanthoma elasticum; ; ABCC6 * Pseudoxanthoma elasticum, forme fruste; ; ABCC6 * Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; ; GGCX * Ptosis, congenital; ; ZFHX4 * Pulmonary alveolar microlithiasis; ; SLC34A2 * Pulmonary alveolar proteinosis; ; CSF2RA * Pulmonary fibrosis, idiopathic; ; SFTPA2 * Pulmonary hypertension, familial primary; ; BMPR2 * Pulmonary hypertension, primary; ; MADH9 * Pulmonary hypertension, primary, fenfluramine-associated; ; BMPR2 * Pulmonary veno occlusive disease; ; BMPR2 * Pycnodysostosis; ; CTSK * Pyogenic bacterial infections, recurrent, due to MYD88 deficiency; ; MYD88 * Pyogenic sterile arthritis, pyoderma gangrenosum, and acne; ; PSTPIP1 * Pyridoxamine 5'-phosphate oxidase deficiency; ; PNPO * Pyropoikilocytosis; ; SPTA1 * Pyruvate carboxylase deficiency; ; PC * Pyruvate dehydrogenase deficiency; ; PDHA1 * Pyruvate dehydrogenase E2 deficiency; ; DLAT * Pyruvate dehydrogenase phosphatase deficiency; ; PDP1 * Pyruvate kinase deficiency; ; PKLR * Rabson-Mendenhall syndrome; ; INSR * Radioulnar synostosis with amegakaryocytic thrombocytopenia; ; HOXA11 * Raine syndrome; ; FAM20C * RAPADILINO syndrome; ; RECQL4 * Rapp-Hodgkin syndrome; ; TP63 * Recombination rate QTL 1; ; RNF212 * Refsum disease; ; PEX7 * Refsum disease; ; PHYH * Refsum disease, infantile form; ; PEX26 * Refsum disease, infantile form; ; PXMP3 * Refsum disease, infantile; ; PEX1 * Renal adysplasia; ; UPK3A * Renal agenesis; ; RET * Renal carcinoma, chromophobe, somatic; ; FLCN * Renal cell carcinoma; ; DIRC2 * Renal cell carcinoma; ; HNF1A * Renal cell carcinoma; ; RNF139 * Renal cell carcinoma, clear cell, somatic; ; OGG1 * Renal cell carcinoma, papillary, 1; ; PRCC * Renal cell carcinoma, papillary, 1; ; TFE3 * Renal cell carcinoma, papillary, familial and sporadic; ; MET * Renal cell carcinoma, somatic; ; VHL * Renal cysts and diabetes syndrome; ; HNF1B * Renal glucosuria; ; SLC5A2 * Renal tubular acidosis with deafness; ; ATP6B1 * Renal tubular acidosis, distal, AD; ; SLC4A1 * Renal tubular acidosis, distal, AR; ; SLC4A1 * Renal tubular acidosis, distal, autosomal recessive; ; ATP6V0A4 * Renal tubular acidosis, proximal, with ocular abnormalities; ; SLC4A4 * Renal tubular dysgenesis; ; ACE * Renal tubular dysgenesis; ; AGT * Renal tubular dysgenesis; ; AGTR1 * Renal tubular dysgenesis; ; REN * Renal-hepatic-pancreatic dysplasia; ; NPHP3 * Renpenning syndrome; ; PQBP1 * Restrictive dermopathy, lethal; ; ZMPSTE24 * Reticular dysgenesis; ; AK2 * Retinal cone dystrophy 3; ; PDE6H * Retinal cone dystrophy 3B; ; KCNV2 * Retinal cone dystrophy 4; ; CACNA2D4 * Retinal degeneration, late-onset, autosomal dominant; ; C1QTNF5 * Retinal dystrophy, early-onset severe; ; ABCA4 * Retinal dystrophy, early-onset severe; ; LRAT * Retinitis pigmentosa 33; ; SNRNP200 * Retinitis pigmentosa 51; ; TTC8 * Retinitis pigmentosa 54; ; C2orf71 * Retinitis pigmentosa 55; ; ARL6 * Retinitis pigmentosa 58; ; ZNF513 * Retinitis pigmentosa, concentric; ; BEST1 * Retinitis pigmentosa, digenic; ; PRPH2 * Retinitis pigmentosa, juvenile; ; LRAT * Retinitis pigmentosa, juvenile, autosomal recessive; ; SPATA7 * Retinitis pigmentosa, late-onset dominant; ; CRX * Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; ; RPGR * Retinitis pigmentosa-1; ; RP1 * Retinitis pigmentosa-10; ; IMPDH1 * Retinitis pigmentosa-11; ; PRPF31 * Retinitis pigmentosa-12, autosomal recessive; ; CRB1 * Retinitis pigmentosa-13; ; PRPF8 * Retinitis pigmentosa-14; ; TULP1 * Retinitis pigmentosa-17; ; CA4 * Retinitis pigmentosa-18; ; HPRP3 * Retinitis pigmentosa-19; ; ABCA4 * Retinitis pigmentosa-2; ; RP2 * Retinitis pigmentosa-25; ; EYS * Retinitis pigmentosa-26; ; CERKL * Retinitis pigmentosa-3; ; RPGR * Retinitis pigmentosa-30; ; FSCN2 * Retinitis pigmentosa-31; ; TOPORS * Retinitis pigmentosa-35; ; SEMA4A * Retinitis pigmentosa-36; ; PRCD * Retinitis pigmentosa-37; ; NR2E3 * Retinitis pigmentosa-38; ; MERTK * Retinitis pigmentosa-39; ; USH2A * Retinitis pigmentosa-41; ; PROM1 * Retinitis pigmentosa-42; ; KLHL7 * Retinitis pigmentosa-45; ; CNGB1 * Retinitis pigmentosa-50; ; BEST1 * Retinitis pigmentosa-7; ; PRPH2 * Retinitis pigmentosa-9; ; RP9 * Retinitis punctata albescens; ; PRPH2 * Retinitis punctata albescens; ; RLBP1 * Retinopathy of prematurity; ; FZD4 * Rett syndrome; ; MECP2 * Rett syndrome, congenital variant; ; FOXG1B * Rett syndrome, preserved speech variant; ; MECP2 * Revesz syndrome; ; TINF2 * Reynolds syndrome; ; LBR * Rhabdoid predisposition syndrome 1; ; SMARCB1 * Rhabdoid tumor predisposition syndrome 2; ; SMARCA4 * Rhabdomyosarcoma 2, alveolar; ; PAX3 * Rhabdomyosarcoma 2, alveolar; ; PAX7 * Rhabdomyosarcoma; ; SLC22A1L * Rhabdomyosarcoma, alveolar; ; FOXO1A * Rhizomelic chondrodysplasia punctata type 1; ; PEX7 * Rhizomelic chondrodysplasia punctata type 3; ; AGPS * Ribose-5-phosphate isomerase deficiency; ; RPIA * Rickets due to defect in vitamin D 25-hydroxylation; ; CYP2R1 * Rickets, vitamin D-resistant, type IIA; ; VDR * RIDDLE syndrome; ; RNF168 * Rieger or Axenfeld anomalies; ; FOXC1 * Ring dermoid of cornea; ; PITX2 * Rippling muscle disease; ; CAV3 * Rippling muscle disease-1; ; RMD1 * Roberts syndrome; ; ESCO2 * Robinow syndrome, autosomal recessive; ; ROR2 * Rolandic epilepsy, mental retardation, and speech dyspraxia; ; SRPX2 * Rothmund-Thomson syndrome; ; RECQL4 * Roussy-Levy syndrome; ; MPZ * Roussy-Levy syndrome; ; PMP22 * Rubenstein-Taybi syndrome; ; CREBBP * Rubinstein-Taybi syndrome; ; EP300 * Saccharopinuria; ; AASS * Saethre-Chotzen syndrome with eyelid anomalies; ; TWIST1 * Saethre-Chotzen syndrome; ; FGFR2 * Saethre-Chotzen syndrome; ; TWIST1 * Salla disease; ; SLC17A5 * Sandhoff disease, infantile, juvenile, and adult forms; ; HEXB * Sanfilippo syndrome, type A; ; SGSH * Sanfilippo syndrome, type B; ; NAGLU * Sanfilippo syndrome, type C; ; HGSNAT * Sarcoidosis, early-onset; ; NOD2 * SC phocomelia syndrome; ; ESCO2 * Scapuloperoneal myopathy, X-linked dominant; ; FHL1 * Scapuloperoneal spinal muscular atrophy; ; TRPV4 * Scapuloperoneal syndrome, myopathic type; ; MYH7 * Scapuloperoneal syndrome, neurogenic, Kaeser type; ; DES * Schimke immunoosseous dysplasia; ; SMARCAL1 * Schindler disease, type I; ; NAGA * Schindler disease, type III; ; NAGA * Schinzel-Giedion midface retraction syndrome; ; SETBP1 * Schizencephaly; ; EMX2 * Schizophrenia; ; DISC2 * Schneckenbecken dysplasia; ; SLC35D1 * Schöpf–Schulz–Passarge syndrome; ; WNT10A * Schwannomatosis; ; NF2 * Schwartz-Jampel syndrome, type 1; ; HSPG2 * Sclerosteosis; ; SOST * Sea-blue histiocyte disease; ; APOE * Sebastian syndrome; ; MYH9 * Seborrhea-like dermatitis with psoriasiform elements; ; ZNF750 * Seckel syndrome 1; ; ATR * SED congenita; ; COL2A1 * Segawa syndrome, recessive; ; TH * Self-healing collodion baby; ; TGM1 * SEMD, Pakistani type; ; PAPSS2 * Senior-Loken syndrome 4; ; NPHP4 * Senior-Loken syndrome 5; ; IQCB1 * Senior-Loken syndrome 6; ; CEP290 * Senior-Loken syndrome-1; ; NPHP1 * Sensorineural deafness with mild renal dysfunction; ; BSND * Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; ; POLG * Septo-optic dysplasia; ; HESX1 * SERKAL syndrome; ; WNT4 * Sertoli-cell-only syndrome; ; ZNF148 * SESAME syndrome; ; KCNJ10 * Severe combined immunodeficiency due to ADA deficiency; ; ADA * Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; ; NHEJ1 * Severe combined immunodeficiency, Athabascan type; ; DCLRE1C * Severe combined immunodeficiency, B cell-negative; ; RAG1 * Severe combined immunodeficiency, B cell-negative; ; RAG2 * Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; ; CD3D * Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; ; CD3E * Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; ; PTPRC * Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type; ; IL7R * Severe combined immunodeficiency, X-linked; ; IL2RG * Short QT syndrome-1; ; KCNH2 * Short QT syndrome-2; ; KCNQ1 * Short QT syndrome-3; ; KCNJ2 * Short rib-polydactyly syndrome, type III; ; DYNC2H1 * Short stature; ; GHSR * Short stature, idiopathic familial; ; SHOX * Short stature, idiopathic familial; ; SHOXY * Short stature, idiopathic; ; GHR * Shprintzen-Goldberg syndrome; ; FBN1 * Shwachman-Bodian-Diamond syndrome; ; SBDS * Sialic acid storage disorder, infantile; ; SLC17A5 * Sialidosis, type I; ; NEU1 * Sialidosis, type II; ; NEU1 * Sialuria; ; GNE * Sick sinus syndrome 1; ; SCN5A * Sick sinus syndrome 2; ; HCN4 * Sickle cell anemia; ; HBB * Silver spastic paraplegia syndrome; ; BSCL2 * Silver-Russell syndrome; ; H19 * Simpson-Golabi-Behmel syndrome, type 1; ; GPC3 * Simpson-Golabi-Behmel syndrome, type 2; ; OFD1 * Sitosterolemia; ; ABCG5 * Sitosterolemia; ; ABCG8 * Sjogren-Larsson syndrome; ; ALDH3A2 * Skeletal defects, genital hypoplasia, and mental retardation; ; ZBTB16 * Skin fragility-woolly hair syndrome; ; DSP * Skin/hair/eye pigmentation 9, dark/light hair; ; ASIP * Slowed nerve conduction velocity, AD; ; ARHGEF10 * Small patella syndrome; ; TBX4 * SMED, Strudwick type; ; COL2A1 * Smith-Lemli-Opitz syndrome; ; DHCR7 * Smith-Magenis syndrome; ; RAI1 * Smith-McCort dysplasia; ; DYM * Snowflake vitreoretinal degeneration; ; KCNJ13 * Solitary median maxillary central incisor; ; SHH * Somatostatin analog, resistance to; ; SSTR5 * Sorsby fundus dystrophy; ; TIMP3 * Sotos syndrome; ; NSD1 * Spastic ataxia, Charlevoix-Saguenay type; ; SACS * Spastic paralysis, infantile onset ascending; ; ALS2 * Spastic paraplegia 10; ; KIF5A * Spastic paraplegia 15; ; ZFYVE26 * Spastic paraplegia 31; ; REEP1 * Spastic paraplegia 33; ; ZFYVE27 * Spastic paraplegia 39; ; PNPLA6 * Spastic paraplegia, 44; ; GJC2 * Spastic paraplegia-11; ; SPG11 * Spastic paraplegia-13; ; HSPD1 * Spastic paraplegia-2; ; PLP1 * Spastic paraplegia-3A; ; SPG3A * Spastic paraplegia-4; ; SPAST * Spastic paraplegia-42; ; SLC33A1 * Spastic paraplegia-5A; ; CYP7B1 * Spastic paraplegia-6; ; NIPA1 * Spastic paraplegia-7; ; PGN * Spastic paraplegia-8; ; KIAA0196 * Specific granule deficiency; ; CEBPE * Speech-language disorder-1; ; FOXP2 * Spherocytosis, hereditary, type 5; ; EPB42 * Spherocytosis, type 1; ; ANK1 * Spherocytosis, type 3; ; SPTA1 * Spherocytosis, type 4; ; SLC4A1 * Spinal and bulbar muscular atrophy of Kennedy; ; AR * Spinal muscular atrophy, distal, autosomal recessive, 4; ; PLEKHG5 * Spinal muscular atrophy, distal, X-linked 3; ; ATP7A * Spinal muscular atrophy, late-onset, Finkel type; ; VAPB * Spinal muscular atrophy, X-linked 2, infantile; ; UBE1 * Spinal muscular atrophy-1; ; SMN1 * Spinal muscular atrophy-2; ; SMN1 * Spinal muscular atrophy-3; ; SMN1 * Spinal muscular atrophy-4; ; SMN1 * Spinocerebellar ataxia 12; ; PPP2R2B * Spinocerebellar ataxia 14; ; PRKCG * Spinocerebellar ataxia 15; ; ITPR1 * Spinocerebellar ataxia 17; ; TBP * Spinocerebellar ataxia 28; ; AFG3L2 * Spinocerebellar ataxia 31; ; BEAN * Spinocerebellar ataxia 8; ; ATXN8OS * Spinocerebellar ataxia 8; ; ATXN8 * Spinocerebellar ataxia with epilepsy; ; POLG * Spinocerebellar ataxia, autosomal recessive 5; ; ZNF592 * Spinocerebellar ataxia, autosomal recessive 8; ; SYNE1 * Spinocerebellar ataxia, autosomal recessive 9; ; CABC1 * Spinocerebellar ataxia, autosomal recessive with axonal neuropathy; ; TDP1 * Spinocerebellar ataxia, infantile-onset; ; C10orf2 * Spinocerebellar ataxia-1; ; ATXN1 * Spinocerebellar ataxia-10; ; ATXN10 * Spinocerebellar ataxia-11; ; TTBK2 * Spinocerebellar ataxia-13; ; KCNC3 * Spinocerebellar ataxia-2; ; ATXN2 * Spinocerebellar ataxia-27; ; FGF14 * Spinocerebellar ataxia-5; ; SPTBN2 * Spinocerebellar ataxia-6; ; CACNA1A * Spinocerebellar ataxia-7; ; ATXN7 * Split-hand/foot malformation 6; ; WNT10B * Split-hand/foot malformation, type 4; ; TP63 * Spondylocarpotarsal synostosis syndrome; ; FLNB * Spondylocheirodysplasia, Ehlers-Danlos syndrome-like; ; SLC39A13 * Spondylocostal dysostosis, autosomal recessive 2; ; MESP2 * Spondylocostal dysostosis, autosomal recessive 3; ; LFNG * Spondylocostal dysostosis, autosomal recessive, 1; ; DLL3 * Spondylocostal dystostosis 4, autosomal dominant; ; GDF6 * Spondyloepimetaphyseal dysplasia; ; MATN3 * Spondyloepimetaphyseal dysplasia, aggrecan type; ; ACAN * Spondyloepimetaphyseal dysplasia, Missouri type; ; MMP13 * Spondyloepiphyseal dysplasia tarda with progressive arthropathy; ; WISP3 * Spondyloepiphyseal dysplasia tarda; ; TRAPPC2 * Spondyloepiphyseal dysplasia with congenital joint dislocations; ; CHST3 * Spondyloepiphyseal dysplasia, Kimberley type; ; ACAN * Spondylo-megaepiphyseal-metaphyseal dysplasia; ; NKX3-2 * Spondylometaepiphyseal dysplasia, short limb-hand type; ; DDR2 * Spondylometaphyseal dysplasia, Kozlowski type; ; TRPV4 * Spondyloperipheral dysplasia; ; COL2A1 * Squamous cell carcinoma, head and neck; ; ING1 * Squamous cell carcinoma, head and neck; ; TNFRSF10B * Stapes ankylosis with broad thumb and toes; ; NOG * STAR syndrome; ; FAM58A * Stargardt disease 3; ; ELOVL4 * Stargardt disease 4; ; PROM1 * Stargardt disease-1; ; ABCA4 * Startle disease/hyperekplexia, autosomal dominant; ; GLRA1 * Steatocystoma multiplex; ; KRT17 * Stickler syndrome, type I; ; COL2A1 * Stickler syndrome, type II; ; COL11A1 * Stickler syndrome, type III; ; COL11A2 * Stiff skin syndrome; ; FBN1 * Stocco dos Santos X-linked mental retardation syndrome; ; SHROOM4 * Stomach cancer; ; KRAS * Stomatocytosis I; ; EPB72 * Striatal degeneration, autosomal dominant; ; PDE8B * Striatonigral degeneration, infantile; ; NUP62 * Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome; ; LIFR * Subcortical laminal heteropia, X-linked; ; DCX * Succinic semialdehyde dehydrogenase deficiency; ; ALDH5A1 * Succinyl-CoA:3-oxoacid CoA transferase deficiency; ; OXCT1 * Sucrase-isomaltase deficiency, congenital; ; SI * Sudden infant death with dysgenesis of the testes syndrome; ; TSPYL1 * Sulfite oxidase deficiency; ; SUOX * Supranuclear palsy, progressive atypical; ; MAPT * Supranuclear palsy, progressive; ; MAPT * Supravalvar aortic stenosis; ; ELN * Surfactant metabolism dysfunction, pulmonary, 1; ; SFTPB * Surfactant metabolism dysfunction, pulmonary, 2; ; SFTPC * Surfactant metabolism dysfunction, pulmonary, 3; ; ABCA3 * Sveinsson choreoretinal atrophy; ; TEAD1 * Symphalangism, proximal; ; GDF5 * Symphalangism, proximal; ; NOG * Syndactyly, type III; ; GJA1 * Syndactyly, type IV; ; LMBR1 * Syndactyly, type V; ; HOXD13 * Synostoses syndrome, multiple, 1; ; NOG * Synpolydactyly with foot anomalies; ; HOXD13 * Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses; ; FBLN1 * Synpolydactyly, type II; ; HOXD13 * Tangier disease; ; ABCA1 * TARP syndrome; ; RBM10 * Tarsal-carpal coalition syndrome; ; NOG * Tay-Sachs disease; ; HEXA * T-cell immunodeficiency, congenital alopecia, and nail dystrophy; ; FOXN1 * Testicular microlithiasis; ; SLC34A2 * Testicular tumor, sporadic; ; STK11 * Tetra-amelia, autosomal recessive; ; WNT3 * Tetralogy of Fallot; ; GDF1 * Tetralogy of Fallot; ; JAG1 * Tetralogy of Fallot; ; ZFPM2 * Tetrology of Fallot; ; NKX2E * Thalassemia, alpha-; ; HBA2 * Thalassemia, Hispanic gamma-delta-beta; ; LCRB * Thalassemia-beta, dominant inclusion-body; ; HBB * Thalassemias, alpha-; ; HBA1 * Thalassemias, beta-; ; HBB * Thanatophoric dysplasia, type I; ; FGFR3 * Thiamine-responsive megaloblastic anemia syndrome; ; SLC19A2 * Three M syndrome 2; ; OBSL1 * Thrombocythemia, essential; ; JAK2 * Thrombocythemia, essential; ; MPL * Thrombocythemia, essential; ; THPO * Thrombocytopenia 4; ; CYCS * Thrombocytopenia with beta-thalassemia, X-linked; ; GATA1 * Thrombocytopenia, congenital amegakaryocytic; ; MPL * Thrombocytopenia, X-linked; ; WAS * Thrombocytopenia, X-linked, intermittent; ; WAS * Thrombocytopenia-2; ; FLJ14813 * Thrombocytopenic purpura, autoimmune; ; FCGR2C * Thrombophilia due to elevated HRG; ; HRG * Thrombophilia due to heparin cofactor II deficiency; ; HCF2 * Thrombophilia due to HRG deficiency; ; HRG * Thrombophilia due to protein C deficiency, autosomal dominant; ; PROC * Thrombophilia due to protein C deficiency, autosomal recessive; ; PROC * Thrombophilia due to protein S deficiency; ; PROS1 * Thrombophilia, familial, due to decreased release of PLAT; ; PLAT * Thrombophilia, X-linked, due to factor IX defect; ; F9 * Thrombosis, hyperhomocysteinemic; ; CBS * Thrombotic thrombocytopenic purpura, familial; ; ADAMTS13 * Thryoid dyshormonogenesis 6; ; DUOX2 * Thyroid carcinoma, follicular; ; MINPP1 * Thyroid carcinoma, follicular; ; NRAS * Thyroid carcinoma, papillary; ; GOLGA5 * Thyroid carcinoma, papillary; ; NCOA4 * Thyroid carcinoma, papillary; ; PCM1 * Thyroid carcinoma, papillary; ; PRKAR1A * Thyroid carcinoma, papillary; ; TRIM24 * Thyroid carcinoma, papillary; ; TRIM33 * Thyroid dyshormonogenesis 1; ; SLC5A5 * Thyroid dyshormonogenesis 2A; ; TPO * Thyroid dyshormonogenesis 3; ; TG * Thyroid dyshormonogenesis 4; ; IYD * Thyroid dyshormonogenesis 5; ; DUOXA2 * Thyroid hormone metabolism, abnormal; ; SECISBP2 * Thyroid hormone resistance; ; THRB * Thyroid hormone resistance, autosomal recessive; ; THRB * Thyroid hormone resistance, selective pituitary; ; THRB * Thyroid papillary carcinoma; ; CCDC6 * Tibial muscular dystrophy, tardive; ; TTN * Tietz albinism-deafness syndrome; ; MITF * Timothy syndrome; ; CACNA1C * Tn syndrome; ; C1GALT1C1 * Toenail dystrophy, isolated; ; COL7A1 * Tooth agenesis, selective, 1, with or without orofacial cleft; ; MSX1 * Tooth agenesis, selective, 3; ; PAX9 * Tooth agenesis, selective, 6; ; LTBP3 * Tooth agenesis, selective, X-linked 1; ; ED1 * Torg-Winchester syndrome; ; MMP2 * Tourette syndrome; ; SLITRK1 * Townes-Brocks branchiootorenal-like syndrome; ; SALL1 * Townes-Brocks syndrome; ; SALL1 * Transaldolase deficiency; ; TALDO1 * Transcobalamin II deficiency; ; TCN2 * Transient bullous of the newborn; ; COL7A1 * Transposition of the great arteries, dextro-looped 1; ; MED13L * Treacher Collins mandibulofacial dysostosis; ; TCOF1 * Trehalase deficiency; ; TREH * Trichodentoosseous syndrome; ; DLX3 * Trichoepithelioma, multiple familial, 1; ; CYLD1 * Trichorhinophalangeal syndrome, type I; ; TRPS1 * Trichorhinophalangeal syndrome, type III; ; TRPS1 * Trichothiodystrophy; ; ERCC2 * Trichothiodystrophy; ; ERCC3 * Trichothiodystrophy, complementation group A; ; GTF2H5 * Trichothiodystrophy, nonphotosensitive 1; ; C7orf11 * Trichotillomania; ; SLITRK1 * Trifunctional protein deficiency; ; HADHA * Trifunctional protein deficiency; ; HADHB * Trigonocephaly; ; FGFR1 * Trimethylaminuria; ; FMO3 * Triphalangeal thumb, type I; ; LMBR1 * Triphalangeal thumb-polysyndactyly syndrome; ; LMBR1 * Trismus-pseudocamptodactyly syndrome; ; MYH8 * Tropical calcific pancreatitis; ; SPINK1 * Troyer syndrome; ; SPG20 * Tuberous sclerosis-1; ; TSC1 * Tuberous sclerosis-2; ; TSC2 * Tumoral calcinosis, familial, normophosphatemic; ; SAMD9 * Tumoral calcinosis, hyperphosphatemic; ; KL * Tumoral calcinosis, hyperphosphatemic, familial; ; FGF23 * Tumoral calcinosis, hyperphosphatemic, familial; ; GALNT3 * Tyrosine kinase 2 deficiency; ; TYK2 * Tyrosinemia type II; ; TAT * Tyrosinemia type III; ; HPD * Ullrich congenital muscular dystrophy; ; COL6A1 * Ullrich congenital muscular dystrophy; ; COL6A2 * Ullrich congenital muscular dystrophy; ; COL6A3 * Ulna and fibula, absence of, with sever limb deficiency; ; WNT7A * Ulnar-mammary syndrome; ; TBX3 * Urocanase deficiency; ; UROC1 * Urofacial syndrome; ; HPSE2 * Usher syndrome, type 1B; ; MYO7A * Usher syndrome, type 1C; ; USH1C * Usher syndrome, type 1D; ; CDH23 * Usher syndrome, type 1D/F digenic; ; CDH23 * Usher syndrome, type 1D/F digenic; ; PCDH15 * Usher syndrome, type 1F; ; PCDH15 * Usher syndrome, type 1G; ; SANS * Usher syndrome, type 2A; ; USH2A * Usher syndrome, type 3; ; CLRN1 * Usher syndrome, type IIC; ; GPR98 * Usher syndrome, type IID; ; WHRN * UV-sensitive syndrome; ; ERCC6 * VACTERL association; ; HOXD13 * Van Buchem disease; ; SOST * van Buchem disease, type 2; ; LRP5 * van der Woude syndrome; ; IRF6 * Vasculopathy, retinal, with cerebral leukodystrophy; ; TREX1 * VATER association with macrocephaly and ventriculomegaly; ; PTEN * Velocardiofacial syndrome; ; TBX1 * Venous malformations, multiple cutaneous and mucosal; ; TEK * Ventricular fibrillation, familial, 1; ; SCN5A * Ventricular fibrillation, paroxysmal familial, 2; ; DPP6 * Ventricular tachycardia, catecholaminergic polymorphic, 1; ; RYR2 * Ventricular tachycardia, catecholaminergic polymorphic, 2; ; CASQ2 * Ventricular tachycardia, idiopathic; ; GNAI2 * Vertical talus, congenital; ; HOXD10 * Vesicoureteral reflux 2; ; ROBO2 * Vitamin D-dependent rickets, type I; ; CYP27B1 * Vitamin K-dependent clotting factors, combined deficiency of, 2; ; VKORC1 * Vitamin K-dependent coagulation defect; ; GGCX * Vitelliform macular dystrophy, adult-onset; ; BEST1 * Vitreoretinochoroidopathy; ; BEST1 * VLCAD deficiency; ; ACADVL * Vohwinkel syndrome with ichthyosis; ; LOR * Vohwinkel syndrome; ; GJB2 * von Hippel-Lindau disease, modification of; ; CCND1 * von Hippel-Lindau syndrome; ; VHL * von Willebrand disease, autosomal dominant; ; VWF * von Willebrand disease, autosomal recessive; ; VWF * von Willebrand disease, platelet-type; ; GP1BA * Waardenburg syndrome type 1; ; PAX3 * Waardenburg syndrome type 2D; ; SNAI2 * Waardenburg syndrome type 2E, with or without neurologic involvement; ; SOX10 * Waardenburg syndrome type 3; ; PAX3 * Waardenburg syndrome type 4A; ; EDNRB * Waardenburg syndrome type 4B; ; EDN3 * Waardenburg syndrome type 4C; ; SOX10 * Waardenburg syndrome type IIA; ; MITF * Waardenburg syndrome/albinism, digenic; ; TYR * Waardenburg syndrome/ocular albinism, digenic; ; MITF * Wagner syndrome 1; ; VCAN * Warburg micro syndrome 1; ; RAB3GAP1 * Warfarin resistance; ; VKORC1 * Warfarin sensitivity; ; CYP2C9 * Warsaw breakage syndrome; ; DDX11 * Watson syndrome; ; NF1 * Weaver syndrome; ; NSD1 * Weill-Marchesani syndrome, dominant; ; FBN1 * Weill-Marchesani syndrome, recessive; ; ADAMTS10 * Weill-Marchesani-like syndrome; ; ADAMTS17 * Weissenbacher-Zweymuller syndrome; ; COL11A2 * Werner syndrome; ; RECQL2 * Weyers acrodental dysostosis; ; EVC * WHIM syndrome; ; CXCR4 * White sponge nevus; ; KRT13 * White sponge nevus; ; KRT4 * Wilms tumor 2; ; H19 * Wilms tumor; ; BRCA2 * Wilms tumor, somatic; ; GPC3 * Wilms tumor, type 1; ; WT1 * Wilson disease; ; ATP7B * Wiskott-Aldrich syndrome; ; WAS * Witkop syndrome; ; MSX1 * Wolcott-Rallison syndrome; ; EIF2AK3 * Wolff-Parkinson-White syndrome; ; PRKAG2 * Wolfram syndrome 2; ; CISD2 * Wolfram syndrome; ; WFS1 * Wolfram-like syndrome, autosomal dominant; ; WFS1 * Wolman disease; ; LIPA * Woodhouse-Sakati syndrome; ; C2orf37 * Woolly hair, autosomal dominant; ; KRT74 * Woolly hair, autosomal recessive 1; ; P2RY5 * Woolly hair, autosomal recessive 2 with or without hypotrichosis; ; LIPH * Wrinkly skin syndrome; ; ATP6V0A2 * Xanthinuria, type I; ; XDH * Xeroderma pigmentosum group A; ; XPA * Xeroderma pigmentosum group B; ; ERCC3 * Xeroderma pigmentosum group C; ; XPC * Xeroderma pigmentosum group D; ; ERCC2 * Xeroderma pigmentosum group E, DDB-negative subtype; ; DDB2 * Xeroderma pigmentosum group F; ; ERCC4 * Xeroderma pigmentosum group G; ; ERCC5 * Xeroderma pigmentosum, variant type; ; POLH * XFE progeroid syndrome; ; ERCC4 * X-inactivation, familial skewed; ; XIC * Zellweger syndrome; ; PEX10 * Zellweger syndrome; ; PEX13 * Zellweger syndrome; ; PEX14 * Zellweger syndrome; ; PEX26 * Zellweger syndrome; ; PEX5 * Zellweger syndrome; ; PXF * Zellweger syndrome, complementation group G; ; PEX3 * Zellweger syndrome-1; ; PEX1 ==External links== * http://www.ncbi.nlm.nih.gov/Omim/omimfaq.html#download 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「List of OMIM disorder codes」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. 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