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{"sheet":"Sheet1","index":0,"n_rows":3109,"n_cols":1,"rows_kept":3109,"cut":false,"hidden":false,"merged":[]}
["Isolated 17,20-lyase deficiency; 202110; CYP17A1"]
["17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1"]
["17-beta-hydroxysteroid dehydrogenase X deficiency; 300438; HSD17B10"]
["2-methylbutyrylglycinuria; 610006; ACADSB"]
["3-hydroxyacyl-coa dehydrogenase deficiency; 231530; HADHSC"]
["3-hydroxyisobutryl-CoA hydrolase deficiency; 250620; HIBCH"]
["3-M syndrome; 273750; CUL7"]
["3-Methylcrotonyl-CoA carboxylase 1 deficiency; 210200; MCCC1"]
["3-Methylcrotonyl-CoA carboxylase 2 deficiency; 210210; MCCC2"]
["3-Methylglutaconic aciduria type I; 250950; AUH"]
["3-Methylglutaconic aciduria type III; 258501; OPA3"]
["3-Methylglutaconic aciduria type V; 610198; DNAJC19"]
["46XX true hermaphroditism; 400045; SRY"]
["46XY complete gonadal dysgenesis; 233420; DHH"]
["46XY complete gonadal dysgenesis; 400044; SRY"]
["46XY gonadal dysgenesis, complete or partial, with or without adrenal failure; 612965; NR5A1"]
["46XY gonadal dysgenesis, complete, CBS2-related; 613080; CBX2"]
["46XY partial gonadal dysgenesis, with minifascicular neuropathy; 607080; DHH"]
["5-fluorouracil toxicity; 274270; DPYD"]
["6-mercaptopurine sensitivity; 610460; TPMT"]
["Aarskog-Scott syndrome; 305400; FGD1"]
["ABCD syndrome; 600501; EDNRB"]
["Abetalipoproteinemia; 200100; MTP"]
["ACAD9 deficiency; 611126; ACAD9"]
["Acampomelic campomelic dysplasia; 114290; SOX9"]
["Achalasia-Addisonianism-Alacrimia syndrome; 231550; AAAS"]
["Acheiropody; 200500; LMBR1"]
["Achondrogenesis Ib; 600972; SLC26A2"]
["Achondrogenesis type 1A; 200600; TRIP11"]
["Achondrogenesis-hypochondrogenesis type 2; 200610; COL2A1"]
["Achondroplasia; 100800; FGFR3"]
["Achromatopsia-2; 216900; CNGA3"]
["Achromatopsia-3; 262300; CNGB3"]
["Acrocallosal syndrome; 200990; GLI3"]
["Acrocapitofemoral dysplasia; 607778; IHH"]
["Acrodermatitis enteropathica; 201100; SLC39A4"]
["Acrokeratosis verruciformis; 101900; ATP2A2"]
["Acromesomelic dysplasia, Hunter-Thompson type; 201250; GDF5"]
["Acromesomelic dysplasia, Maroteaux type; 602875; NPR2"]
["Action myoclonus-renal failure syndrome; 254900; SCARB2"]
["Acyl-CoA dehydrogenase, long chain, deficiency of; 201460; ACADL"]
["Acyl-CoA dehydrogenase, medium chain, deficiency of; 201450; ACADM"]
["Acyl-CoA dehydrogenase, short chain, deficiency of; 201470; ACADS"]
["Adenocarcinoma of lung, response to tyrosine kinase inhibitor in; 211980; EGFR"]
["Adenocarcinoma of lung, somatic; 211980; BRAF"]
["Adenocarcinoma of lung, somatic; 211980; ERBB2"]
["Adenocarcinoma of lung, somatic; 211980; PRKN"]
["Adenocarcinoma, ovarian, somatic; 604370; PRKN"]
["Adenomas, multiple colorectal; 608456; MUTYH"]
["Adenomas, salivary gland pleomorphic; 181030; PLAG1"]
["Adenomatous polyposis coli; 175100; APC"]
["Adenosine deaminase deficiency, partial; 102700; ADA"]
["Adenosine triphosphate, elevated, of erythrocytes; 102900; PKLR"]
["Adenylosuccinase deficiency; 103050; ADSL"]
["Adiponectin deficiency; 612556; ADIPOQ"]
["Adrenal cortical carcinoma; 202300; TP53"]
["Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; 202010; CYP11B1"]
["Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency; 201750; POR"]
["Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; 300200; DAX1"]
["Adrenocorticotropic hormone deficiency; 201400; TBS19"]
["Adrenoleukodystrophy; 300100; ABCD1"]
["Adrenoleukodystrophy, neonatal; 202370; PEX1"]
["Adrenoleukodystrophy, neonatal; 202370; PEX10"]
["Adrenoleukodystrophy, neonatal; 202370; PEX13"]
["Adrenoleukodystrophy, neonatal; 202370; PEX26"]
["Adrenoleukodystrophy, neonatal; 202370; PEX5"]
["Adrenomyeloneuropathy; 300100; ABCD1"]
["Adult i phenotype with congenital cataract; 110800; GCNT2"]
["Adult i phenotype without cataract; 110800; GCNT2"]
["ADULT syndrome; 103285; TP63"]
["Advanced sleep phase syndrome, familial; 604348; PER2"]
["Afibrinogenemia, congenital; 202400; FGA"]
["Afibrinogenemia, congenital; 202400; FGB"]
["Agammaglobulinemia 1; 601495; IGHM"]
["Agammaglobulinemia 2; 613500; IGLL1"]
["Agammaglobulinemia 4; 613502; BLNK"]
["Agammaglobulinemia 5; 613506; LRRC8A"]
["Agammaglobulinemia and isolated hormone deficiency; 307200; BTK"]
["Agammaglobulinemia, type 1, X-linked; 300755; BTK"]
["AGAT deficiency; 612718; GATM"]
["Agenesis of the corpus callosum with peripheral neuropathy; 218000; SLC12A6"]
["Aicardi-Goutieres syndrome 1, dominant and recessive; 225750; TREX1"]
["Aicardi-Goutieres syndrome 2; 610181; RNASEH2B"]
["Aicardi-Goutieres syndrome 3; 610329; RNASEH2C"]
["Aicardi-Goutieres syndrome 4; 610333; RNASEH2A"]
["Aicardi-Goutieres syndrome 5; 612952; SAMHD1"]
["AICA-ribosiduria due to ATIC deficiency; 608688; ATIC"]
["Alagille syndrome 2; 610205; NOTCH2"]
["Alagille syndrome; 118450; JAG1"]
["Aland Island eye disease; 300600; CACNA1F"]
["Albinism, brown oculocutaneous; 203200; OCA2"]
["Albinism, brown; 203290; TYRP1"]
["Albinism, oculocutaneous, type IA; 203100; TYR"]
["Albinism, oculocutaneous, type IB; 606952; TYR"]
["Albinism, oculocutaneous, type II; 203200; OCA2"]
["Albinism, rufous; 278400; TYRP1"]
["Alcohol sensitivity, acute; 610251; ALDH2"]
["Aldosteronism, glucocorticoid-remediable; 103900; CYP11B1"]
["Alexander disease; 203450; GFAP"]
["Alexander disease; 203450; NDUFV1"]
["Alkaptonuria; 203500; HGD"]
["Allan-Herndon-Dudley syndrome; 300523; SLC16A2"]
["Alopecia universalis; 203655; HR"]
["Alopecia, neurologic defects, and endocrinopathy syndrome; 612079; RBM28"]
["Alpers syndrome; 203700; POLG"]
["Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; 609889; RAG1"]
["Alpha-2-plasmin inhibitor deficiency; 262850; PLI"]
["Alpha-ketoglutarate dehydrogenase deficiency; 203740; OGDH"]
["Alpha-methylacetoacetic aciduria; 203750; ACAT1"]
["Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX"]
["Alpha-thalassemia mental retardation syndrome; 301040; ATRX"]
["Alport syndrome; 301050; COL4A5"]
["Alport syndrome, autosomal recessive; 203780; COL4A3"]
["Alport syndrome, autosomal recessive; 203780; COL4A4"]
["Alstrom syndrome; 203800; ALMS1"]
["Alternating hemiplegia of childhood; 104290; ATP1A2"]
["Alveolar capillary dysplasia with misalignment of pulmonary veins; 265380; FOXF1"]
["Alveolar soft part sarcoma; 606243; ASPSCR1"]
["Alzheimer disease 1, familial; 104300; APP"]
["Alzheimer disease 6; 104300; AD6"]
["Alzheimer disease 8; 104300; AD8"]
["Alzheimer disease, late-onset, susceptibility to; 104300; NOS3"]
["Alzheimer disease, type 3; 607822; PSEN1"]
["Alzheimer disease, type 3, with spastic paraparesis and apraxia; 607822; PSEN1"]
["Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; 607822; PSEN1"]
["Alzheimer disease-10; 104300; AD10"]
["Alzheimer disease-2; 104310; APOE"]
["Alzheimer disease-4; 606889; PSEN2"]
["Alzheimer disease-5; 104300; AD5"]
["Amelogenesis imperfecta, hypomaturation type, IIA3; 613211; WDR72"]
["Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; 104510; DLX3"]
["Amelogenesis imperfecta, hypoplastic/hypomaturation type; 301200; AMELX"]
["Amelogenesis imperfecta, type 3; 130900; FAM83H"]
["Amelogenesis imperfecta, type IB; 104500; ENAM"]
["Amelogenesis imperfecta, type IC; 204650; ENAM"]
["Amelogenesis imperfecta, type IIA1; 204700; KLK4"]
["Amelogenesis imperfecta, type IIA2; 612529; MMP20"]
["Aminoacylase 1 deficiency; 609924; ACY1"]
["Amish infantile epilepsy syndrome; 609056; SIAT9"]
["Amyloidosis, 3 or more types; 105200; APOA1"]
["Amyloidosis, Finnish type; 105120; GSN"]
["Amyloidosis, hereditary renal; 105200; FGA"]
["Amyloidosis, hereditary, transthyretin-related; 105210; TTR"]
["Amyloidosis, primary localized cutaneous; 105250; OSMR"]
["Amyloidosis, renal; 105200; LYZ"]
["Amyotrophic lateral sclerosis 10, with or without FTD; 612069; TARDBP"]
["Amyotrophic lateral sclerosis 11; 612577; FIG4"]
["Amyotrophic lateral sclerosis 4, juvenile; 602433; SETX"]
["Amyotrophic lateral sclerosis 6, autosomal recessive; 608030; FUS"]
["Amyotrophic lateral sclerosis 8; 608627; VAPB"]
["Amyotrophic lateral sclerosis 9; 611895; ANG"]
["Amyotrophic lateral sclerosis, due to SOD1 deficiency; 105400; SOD1"]
["Amyotrophic lateral sclerosis, juvenile; 205100; ALS2"]
["Amyotrophy, hereditary neuralgic; 162100; 40430"]
["Amytrophic lateral sclerosis 12; 613435; OPTN"]
["Anauxetic dysplasia; 607095; RMRP"]
["Androgen insensitivity; 300068; AR"]
["Androgen insensitivity, partial, with or without breast cancer; 312300; AR"]
["Anemia, congenital dyserythropoietic, type I; 224120; CDAN1"]
["Anemia, dyserythropoietic congenital, type II; 224100; SEC23B"]
["Anemia, hemolytic, due to UMPH1 deficiency; 266120; NT5C3"]
["Anemia, hemolytic, Rh-null, regulator type; 268150; RHAG"]
["Anemia, hypochromic microcytic; 206100; NRAMP2"]
["Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; GLRX5"]
["Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; SLC25A38"]
["Anemia, sideroblastic, with ataxia; 301310; ABCB7"]
["Anemia, sideroblastic, X-linked; 300751; ALAS2"]
["Angelman syndrome; 105830; MECP2"]
["Angelman syndrome; 105830; UBE3A"]
["Angelman syndrome-like; 105830; CDKL5"]
["Angioedema, hereditary, type III; 610618; F12"]
["Angioedema, hereditary, types I and II; 106100; C1NH"]
["Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; 611773; COL4A1"]
["Aniridia; 106210; PAX6"]
["Anonychia congenita; 206800; RSPO4"]
["Anterior segment mesenchymal dysgenesis; 107250; FOXE3"]
["Anterior segment mesenchymal dysgenesis; 107250; PITX3"]
["Antithrombin III deficiency; 613118; AT3"]
["Antley-Bixler syndrome; 207410; FGFR2"]
["Antley-Bixler syndrome-like with disordered steroidogenesis; 201750; POR"]
["Anxiety-related personality traits; 607834; SLC6A4"]
["Aortic aneurysm, familial thoracic 4; 132900; MYH11"]
["Aortic aneurysm, familial thoracic 6; 611788; ACTA2"]
["Aortic valve disease; 109730; NOTCH1"]
["Apert syndrome; 101200; FGFR2"]
["Aphakia, congenital primary; 610256; FOXE3"]
["Aplasia of lacrimal and salivary glands; 180920; FGF10"]
["Aplastic anemia; 609135; TERC"]
["Argininemia; 207800; ARG1"]
["Argininosuccinic aciduria; 207900; ASL"]
["Aromatase deficiency; 613546; CYP19A1"]
["Aromatase excess syndrome; 139300; CYP19A1"]
["Aromatic L-amino acid decarboxylase deficiency; 608643; DDC"]
["Arrhythmogenic right ventricular dysplasia 1; 107970; TGFB3"]
["Arrhythmogenic right ventricular dysplasia 2; 600996; RYR2"]
["Arrhythmogenic right ventricular dysplasia 5; 604400; LAMR1"]
["Arrhythmogenic right ventricular dysplasia 8; 607450; DSP"]
["Arrhythmogenic right ventricular dysplasia, familial, 10; 610193; DSG2"]
["Arrhythmogenic right ventricular dysplasia, familial, 11; 610476; DSC2"]
["Arrhythmogenic right ventricular dysplasia, familial, 12; 611528; JUP"]
["Arrhythmogenic right ventricular dysplasia, familial, 5; 604400; TMEM43"]
["Arrhythmogenic right ventricular dysplasia, familial, 9; 609040; PKP2"]
["Arterial calcification, generalized, of infancy; 208000; ENPP1"]
["Arterial tortuosity syndrome; 208050; SLC2A10"]
["Arthrogryposis multiplex congenita, distal type 1; 108120; TPM2"]
["Arthrogryposis multiplex congenita, distal type 2B; 601680; TNNI2"]
["Arthrogryposis, distal, type 2A; 193700; MYH3"]
["Arthrogryposis, distal, type 2B; 601680; MYH3"]
["Arthrogryposis, distal, type 2B; 601680; TPM2"]
["Arthrogryposis, lethal, with anterior horn cell disease; 611890; GLE1"]
["Arthrogryposis, renal dysfunction, and cholestasis 1; 208085; VPS33B"]
["Arthrogryposis, renal dysfunction, and cholestasis 2; 613404; VIPAR"]
["Arthropathy, progressive pseudorheumatoid, of childhood; 208230; WISP3"]
["Arthyrgryposis, distal, type 2B; 601680; TNNT3"]
["Arts syndrome; 301835; PRPS1"]
["Aspartylglucosaminuria; 208400; AGA"]
["Asphyxiating thoracic dystrophy 2; 611263; IFT80"]
["Asphyxiating thoracic dystrophy 3; 613091; DYNC2H1"]
["Asthma and nasal polyps; 208550; TBX21"]
["Ataxia with isolated vitamin E deficiency; 277460; TTPA"]
["Ataxia, cerebellar, Cayman type; 601238; ATCAY"]
["Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; 208920; APTX"]
["Ataxia-ocular apraxia-2; 606002; SETX"]
["Ataxia-telangiectasia; 208900; ATM"]
["Ataxia-telangiectasia-like disorder; 604391; MRE11A"]
["Atelosteogenesis II; 256050; SLC26A2"]
["Atelosteogenesis, type III; 108721; FLNB"]
["Atelostogenesis, type I; 108720; FLNB"]
["Athabaskan brainstem dysgenesis syndrome; 601536; HOXA1"]
["Atopy; 147050; SPINK5"]
["ATP synthase deficiency, nuclear-encoded; 604273; ATPAF2"]
["Atransferrinemia; 209300; TF"]
["Atrial fibrillation; 608583; GJA5"]
["Atrial fibrillation, familial, 3; 607554; KCNQ1"]
["Atrial fibrillation, familial, 4; 611493; KCNE2"]
["Atrial fibrillation, familial, 6; 612201; NPPA"]
["Atrial fibrillation, familial, 7; 612240; KCNA5"]
["Atrial septal defect 4; 611363; TBX20"]
["Atrial septal defect 5; 612794; ACTC1"]
["Atrial septal defect 6; 613087; TLL1"]
["Atrial septal defect with atrioventricular conduction defects; 108900; NKX2E"]
["Atrial septal defect-2; 607941; GATA4"]
["Atrichia with papular lesions; 209500; HR"]
["Atrioventricular canal defect; 600309; AVSD1"]
["Atrioventricular septal defect; 600309; GJA1"]
["Atrioventricular septal defect, partial, with heterotaxy syndrome; 606217; CRELD1"]
["Auditory neuropathy, autosomal recessive, 1; 601071; OTOF"]
["Autoimmune disease, syndromic multisystem; 613385; ITCH"]
["Autoimmune lymphoproliferative syndrome, type IA; 601859; TNFRSF6"]
["Autoimmune lymphoproliferative syndrome, type II; 603909; CASP10"]
["Autoimmune lymphoproliferative syndrome, type IIB; 607271; CASP8"]
["Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia; 240300; AIRE"]
["Axenfeld-Rieger syndrome, type 1; 180500; PITX2"]
["Axenfeld-Rieger syndrome, type 3; 602482; FOXC1"]
["Azoospermia due to perturbations of meiosis; 270960; SYCP3"]
["Azoospermia; 415000; USP9Y"]
["Baller-Gerold syndrome; 218600; RECQL4"]
["Bamforth-Lazarus syndrome; 241850; FOXE1"]
["Bannayan-Riley-Ruvalcaba syndrome; 153480; PTEN"]
["Bardet-Biedl syndrome 1; 209900; BBS1"]
["Bardet-Biedl syndrome 10; 209900; BBS10"]
["Bardet-Biedl syndrome 11; 209900; TRIM32"]
["Bardet-Biedl syndrome 12; 209900; BBS12"]
["Bardet-Biedl syndrome 13; 209900; MKS1"]
["Bardet-Biedl syndrome 14; 209900; CEP290"]
["Bardet-Biedl syndrome 15; 209900; C2orf86"]
["Bardet-Biedl syndrome 2; 209900; BBS2"]
["Bardet-Biedl syndrome 3; 209900; ARL6"]
["Bardet-Biedl syndrome 4; 209900; BBS4"]
["Bardet-Biedl syndrome 5; 209900; BBS5"]
["Bardet-Biedl syndrome 6; 209900; MKKS"]
["Bardet-Biedl syndrome 7; 209900; BBS7"]
["Bardet-Biedl syndrome 8; 209900; TTC8"]
["Bardet-Biedl syndrome 9; 209900; PTHB1"]
["Bare lymphocyte syndrome, type I; 604571; TAP1"]
["Bare lymphocyte syndrome, type I; 604571; TAPBP"]
["Bare lymphocyte syndrome, type I, due to TAP2 deficiency; 604571; TAP2"]
["Bare lymphocyte syndrome, type II, complementation group A; 209920; MHC2TA"]
["Bare lymphocyte syndrome, type II, complementation group C; 209920; RFX5"]
["Bare lymphocyte syndrome, type II, complementation group D; 209920; RFXAP"]
["Bare lymphocyte syndrome, type II, complementation group E; 209920; RFX5"]
["Barth syndrome; 302060; TAZ"]
["Bart-Pumphrey syndrome; 149200; GJB2"]
["Bartter syndrome, type 1; 601678; SLC12A1"]
["Bartter syndrome, type 2; 241200; KCNJ1"]
["Bartter syndrome, type 3; 607364; CLCNKB"]
["Bartter syndrome, type 4, digenic; 602522; CLCNKB"]
["Bartter syndrome, type 4a; 602522; BSND"]
["Bartter syndrome, type 4b, digenic; 613090; CLCNKA"]
["Basal cell carcinoma, somatic; 605462; PTCH1"]
["Basal cell carcinoma, somatic; 605462; PTCH2"]
["Basal cell carcinoma, somatic; 605462; RASA1"]
["Basal cell nevus syndrome; 109400; PTCH1"]
["Basal ganglia disease, biotin-responsive; 607483; SLC19A3"]
["Basal laminar drusen; 126700; HF1"]
["BCG and salmonella infection, disseminated; 209950; IL12B"]
["BCG infection, generalized familial; 209950; IFNGR1"]
["Beare-Stevenson cutis gyrata syndrome; 123790; FGFR2"]
["Becker muscular dystrophy; 300376; DMD"]
["Beckwith-Wiedemann syndrome; 130650; CDKN1C"]
["Beckwith-Wiedemann syndrome; 130650; H19"]
["Beckwith-Wiedemann syndrome; 130650; KCNQ10T1"]
["Beckwith-Wiedemann syndrome; 130650; NSD1"]
["Bernard-Soulier syndrome, benign autosomal dominant; 153670; GP1BA"]
["Bernard-Soulier syndrome, type A; 231200; GP1BA"]
["Bernard-Soulier syndrome, type B; 231200; GP1BB"]
["Bernard-Soulier syndrome, type C; 231200; GP9"]
["Best macular dystrophy; 153700; BEST1"]
["Bestrophinopathy; 611809; BEST1"]
["Beta-ureidopropionase deficiency; 613161; UPB1"]
["Bethlem myopathy; 158810; COL6A1"]
["Bethlem myopathy; 158810; COL6A2"]
["Bethlem myopathy; 158810; COL6A3"]
["Bietti crystalline corneoretinal dystrophy; 210370; CYP4V2"]
["Bifid nose with or without anorectal and renal anomalies; 608980; FREM1"]
["Bile acid malabsorption, primary; 613291; SLC10A2"]
["Bile acid synthesis defect, congenital, 2; 235555; AKR1D1"]
["Bile acid synthesis defect, congenital, 4; 214950; AMACR"]
["Biotinidase deficiency; 253260; BTD"]
["Birk-Barel mental retardation dysmorphism syndrome; 612292; KCNK9"]
["Birt-Hogg-Dube syndrome; 135150; FLCN"]
["Bjornstad syndrome; 262000; BCS1L"]
["Bladder cancer; 109800; KRAS"]
["Bladder cancer; 109800; RB1"]
["Bladder cancer, somatic; 109800; FGFR3"]
["Blau syndrome; 186580; NOD2"]
["Bleeding disorder due to P2RY12 defect; 609821; P2RY12"]
["Blepharophimosis, epicanthus inversus, and ptosis, type 1; 110100; FOXL2"]
["Blepharophimosis, epicanthus inversus, and ptosis, type 2; 110100; FOXL2"]
["Blood group--Lutheran inhibitor; 111150; KLF1"]
["Bloom syndrome; 210900; RECQL3"]
["Blue cone monochromacy; 303700; OPN1MW"]
["Blue-cone monochromacy; 303700; OPN1LW"]
["Boomerang dysplasia; 112310; FLNB"]
["Borjeson-Forssman-Lehmann syndrome; 301900; PHF6"]
["Bosley-Salih-Alorainy syndrome; 601536; HOXA1"]
["Bothnia retinal dystrophy; 607475; RLBP1"]
["Bowen-Conradi syndrome; 211180; EMG1"]
["Brachiootic syndrome 3; 608389; SIX1"]
["Brachydactyly type A1; 112500; BDA1B"]
["Brachydactyly type A1; 112500; IHH"]
["Brachydactyly type A2; 112600; BMPR1B"]
["Brachydactyly type A2; 112600; GDF5"]
["Brachydactyly type B1; 113000; ROR2"]
["Brachydactyly type B2; 611377; NOG"]
["Brachydactyly type C; 113100; GDF5"]
["Brachydactyly type D; 113200; HOXD13"]
["Brachydactyly type E; 113300; HOXD13"]
["Brachydactyly type E2; 613382; PTHLH"]
["Brachydactyly-syndactyly syndrome; 610713; HOXD13"]
["Brachyolmia type 3; 113500; TRPV4"]
["Bradyopsia; 608415; RGS9"]
["Bradyopsia; 608415; RGS9BP"]
["Brain small vessel disease with Axenfeld-Rieger anomaly; 607595; COL4A1"]
["Brain small vessel disease with hemorrhage; 607595; COL4A1"]
["Branchiooculofacial syndrome; 113620; TFAP2A"]
["Branchiootorenal syndrome 2; 610896; SIX5"]
["Branchiootorenal syndrome with cataract; 113650; EYA1"]
["Branchiootorenal syndrome; 113650; EYA1"]
["Breast cancer; 114480; PPM1D"]
["Breast cancer; 114480; SLC22A1L"]
["Breast cancer; 114480; TP53"]
["Breast cancer, early-onset; 114480; BRIP1"]
["Breast cancer, invasive ductal; 114480; RAD54L"]
["Breast cancer, somatic; 114480; AKT1"]
["Breast cancer, somatic; 114480; KRAS"]
["Breast cancer, somatic; 114480; PIK3CA"]
["Breast cancer, somatic; 114480; RB1CC1"]
["Brittle cornea syndrome; 229200; ZNF469"]
["Brody myopathy; 601003; ATP2A1"]
["Bronchiectasis with or without elevated sweat chloride 1; 211400; SCNN1B"]
["Bronchiectasis with or without elevated sweat chloride 2; 613021; SCNN1A"]
["Bronchiectasis with or without elevated sweat chloride 3; 613071; SCNN1G"]
["Brooke-Spiegler syndrome; 605041; CYLD1"]
["Brown-Vialetto-Van Laere syndrome; 211530; C20orf54"]
["Bruck syndrome 2; 609220; PLOD2"]
["Brugada syndrome 1; 601144; SCN5A"]
["Brugada syndrome 2; 611777; GPD1L"]
["Brugada syndrome 3; 611875; CACNA1C"]
["Brugada syndrome 4; 611876; CACNB2"]
["Brugada syndrome 5; 612838; SCN1B"]
["Brugada syndrome 6; 613119; KCNE3"]
["Brugada syndrome 7; 613120; SCN3B"]
["Brugada syndrome 8; 613123; HCN4"]
["Brunner syndrome; 300615; MAOA"]
["Burkitt lymphoma; 113970; MYC"]
["Buschke–Ollendorff syndrome; 166700; LEMD3"]
["C syndrome; 211750; CD96"]
["C5 deficiency; 609536; C5"]
["C6 deficiency; 612446; C6"]
["C7 deficiency; 610102; C7"]
["Caffey disease; 114000; COL1A1"]
["Campomelic dysplasia with autosomal sex reversal; 114290; SOX9"]
["Campomelic dysplasia; 114290; SOX9"]
["Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; 208250; PRG4"]
["Camurati-Engelmann disease; 131300; TGFB1"]
["Canavan disease; 271900; ASPA"]
["Candidiasis, familial chronic mucocutaneous, autosomal dominant; 613108; CLEC7A"]
["Candidiasis, familial chronic mucocutaneous, autosomal recessive; 212050; CARD9"]
["Capillary malformation-arteriovenous malformation; 608354; RASA1"]
["Carbamoyl phosphate synthetase I deficiency; 237300; CPS1"]
["Carbohydrate-deficient glycoprotein syndrome, type Ib; 602579; MPI"]
["Carboxypeptidase N deficiency; 212070; CPN1"]
["Carcinoid tumors, intestinal; 114900; SDHD"]
["Cardiac arrhythmia, ankyrin-B-related; 600919; ANK2"]
["Cardiac conduction defect, nonspecific; 612838; SCN1B"]
["Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; 604377; SCO2"]
["Cardiofaciocutaneous syndrome; 115150; BRAF"]
["Cardiofaciocutaneous syndrome; 115150; KRAS"]
["Cardiofaciocutaneous syndrome; 115150; MAP2K1"]
["Cardiofaciocutaneous syndrome; 115150; MAP2K2"]
["Cardiomyopathy, dilated 1C; 601493; LDB3"]
["Cardiomyopathy, dilated; 115200; MYBPC3"]
["Cardiomyopathy, dilated, 1A; 115200; LMNA"]
["Cardiomyopathy, dilated, 1AA; 612158; ACTN2"]
["Cardiomyopathy, dilated, 1BB; 612877; DSG2"]
["Cardiomyopathy, dilated, 1CC; 613122; NEXN"]
["Cardiomyopathy, dilated, 1D; 601494; TNNT2"]
["Cardiomyopathy, dilated, 1DD; 613172; RBM20"]
["Cardiomyopathy, dilated, 1E; 601154; SCN5A"]
["Cardiomyopathy, dilated, 1EE; 613252; MYH6"]
["Cardiomyopathy, dilated, 1FF; 613286; TNNI3"]
["Cardiomyopathy, dilated, 1G; 604145; TTN"]
["Cardiomyopathy, dilated, 1GG; 613642; SDHA"]
["Cardiomyopathy, dilated, 1I; 604765; DES"]
["Cardiomyopathy, dilated, 1J; 605362; EYA4"]
["Cardiomyopathy, dilated, 1L; 606685; SGCD"]
["Cardiomyopathy, dilated, 1M; 607482; CSRP3"]
["Cardiomyopathy, dilated, 1N; 607487; TCAP"]
["Cardiomyopathy, dilated, 1O; 608569; ABCC9"]
["Cardiomyopathy, dilated, 1P; 609909; PLN"]
["Cardiomyopathy, dilated, 1R; 613424; ACTC1"]
["Cardiomyopathy, dilated, 1S; 613426; MYH7"]
["Cardiomyopathy, dilated, 1W; 611407; VCL"]
["Cardiomyopathy, dilated, 1X; 611615; FKTN"]
["Cardiomyopathy, dilated, 1Y; 611878; TPM1"]
["Cardiomyopathy, dilated, 1Z; 611879; TNNC1"]
["Cardiomyopathy, dilated, 2A; 611880; TNNI3"]
["Cardiomyopathy, dilated, 3A; 300069; TAZ"]
["Cardiomyopathy, dilated, 3B; 302045; DMD"]
["Cardiomyopathy, familial hypertrophic, 1; 192600; MYH7"]
["Cardiomyopathy, familial hypertrophic, 10; 608758; MYL2"]
["Cardiomyopathy, familial hypertrophic, 11; 612098; ACTC1"]
["Cardiomyopathy, familial hypertrophic, 12; 612124; CSRP3"]
["Cardiomyopathy, familial hypertrophic, 13; 613243; TNNC1"]
["Cardiomyopathy, familial hypertrophic, 14; 613251; MYH6"]
["Cardiomyopathy, familial hypertrophic, 15; 613255; VCL"]
["Cardiomyopathy, familial hypertrophic; 192600; CAV3"]
["Cardiomyopathy, familial hypertrophic; 192600; SLC25A4"]
["Cardiomyopathy, familial hypertrophic, 2; 115195; TNNT2"]
["Cardiomyopathy, familial hypertrophic, 3; 115196; TPM1"]
["Cardiomyopathy, familial hypertrophic, 4; 115197; MYBPC3"]
["Cardiomyopathy, familial hypertrophic, 8; 608751; MYL3"]
["Cardiomyopathy, familial restrictive; 115210; TNNI3"]
["Cardiomyopathy, familial restrictive, 3; 612422; TNNT2"]
["Cardiomyopathy, hypertrophic 6, with WPW; 600858; PRKAG2"]
["Cardiomyopathy, hypertrophic, midventricular, digenic; 192600; MYLK2"]
["Carney complex variant; 608837; MYH8"]
["Carney complex, type 1; 160980; PRKAR1A"]
["Carnitine deficiency, systemic primary; 212140; SLC22A5"]
["Carotid intimal medial thickness 1; 609338; PPARG"]
["Carpal tunnel syndrome, familial; 115430; TTR"]
["Carpenter syndrome; 201000; RAB23"]
["Cartilage-hair hypoplasia; 250250; RMRP"]
["Cataract with late-onset corneal dystrophy; 604219; PAX6"]
["Cataract, autosomal dominant, multiple types 1; 611597; BFSP2"]
["Cataract, cerulean, type 2; 601547; CRYBB2"]
["Cataract, congenital nuclear, 2; 609741; CRYBB3"]
["Cataract, congenital nuclear, autosomal recessive 3; 611544; CRYBB1"]
["Cataract, congenital zonular, with sutural opacities; 600881; CRYBA1"]
["Cataract, congenital; 604219; BFSP2"]
["Cataract, congenital, cerulean type, 3; 608983; CRYGD"]
["Cataract, congenital, X-linked; 302200; NHS"]
["Cataract, Coppock-like; 604307; CRYBB2"]
["Cataract, Coppock-like; 604307; CRYGC"]
["Cataract, cortical, juvenile-onset; 611391; BFSP1"]
["Cataract, crystalline aculeiform; 115700; CRYGD"]
["Cataract, juvenile, with microcornea and glucosuria; 612018; SLC16A12"]
["Cataract, juvenile-onset; 604219; BFSP2"]
["Cataract, lamellar 2; 610425; CRYBA4"]
["Cataract, lamellar; 116800; HSF4"]
["Cataract, Marner type; 116800; HSF4"]
["Cataract, nonnuclear polymorphic congenital; 601286; CRYGD"]
["Cataract, polymorphic and lamellar; 604219; MIP"]
["Cataract, posterior polar, 1; 613020; EPHA2"]
["Cataract, posterior polar, 3; 605387; CHMP4B"]
["Cataract, posterior polar, 4; 610623; PITX3"]
["Cataract, posterior polar, 4, syndromic; 610623; PITX3"]
["Cataract, sutural, with punctate and cerulean opacities; 607133; CRYBB2"]
["Cataract, zonular pulverulent-1; 116200; GJA8"]
["Cataract, zonular pulverulent-3; 601885; GJA3"]
["Cataract-microcornea syndrome; 116150; GJA8"]
["CATSHL syndrome; 610474; FGFR3"]
["Caudal duplication anomaly; 607864; AXIN1"]
["Caudal regression syndrome; 600145; VANGL1"]
["Cavernous malformations of CNS and retina; 116860; CCM1"]
["CD59 deficiency; 612300; CD59"]
["CD8 deficiency, familial; 608957; CD8A"]
["Cenani-Lenz syndactyly syndrome; 212780; LRP4"]
["Central core disease; 117000; RYR1"]
["Central hypoventilation syndrome; 209880; GDNF"]
["Central hypoventilation syndrome, congenital; 209880; ASCL1"]
["Central hypoventilation syndrome, congenital; 209880; BDNF"]
["Central hypoventilation syndrome, congenital; 209880; EDN3"]
["Central hypoventilation syndrome, congenital; 209880; PMX2B"]
["Central hypoventilation syndrome, congenital; 209880; RET"]
["Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; 613227; CA8"]
["Cerebellar ataxia; 604290; CP"]
["Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; 224050; VLDLR"]
["Cerebral amyloid angiopathy; 105150; CST3"]
["Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; 605714; APP"]
["Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; 125310; NOTCH3"]
["Cerebral cavernous malformations 3; 603285; PDCD10"]
["Cerebral cavernous malformations-1; 116860; CCM1"]
["Cerebral cavernous malformations-2; 603284; C7orf22"]
["Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome; 609528; SNAP29"]
["Cerebral palsy, spastic quadriplegic, 3; 612936; AP4M1"]
["Cerebral palsy, spastic quadriplegic; 612900; KANK1"]
["Cerebral palsy, spastic, symmetric, autosomal recessive; 603513; GAD1"]
["Cerebrocostomandibular-like syndrome; 611209; COG1"]
["Cerebrooculofacioskeletal syndrome 1; 214150; ERCC6"]
["Cerebrooculofacioskeletal syndrome 2; 610756; ERCC2"]
["Cerebrooculofacioskeletal syndrome 4; 610758; ERCC1"]
["Cerebrotendinous xanthomatosis; 213700; CYP27A1"]
["Ceroid lipofuscinosis, neuronal 8; 600143; CLN8"]
["Ceroid lipofuscinosis, neuronal, 10; 610127; CTSD"]
["Ceroid lipofuscinosis, neuronal, 7; 610951; MFSD8"]
["Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; 610003; CLN8"]
["Ceroid lipofuscinosis, neuronal 1, infantile; 256730; PPT1"]
["Ceroid-lipofuscinosis, neuronal 2, classic late infantile; 204500; TPP1"]
["Ceroid lipofuscinosis, neuronal 3, juvenile; 204200; CLN3"]
["Ceroid-lipofuscinosis, neuronal-5, variant late infantile; 256731; CLN5"]
["Ceroid-lipofuscinosis, neuronal-6, variant late infantile; 601780; CLN6"]
["Cervical cancer, somatic; 603956; FGFR3"]
["Chanarin–Dorfman syndrome; 275630; ABHD5"]
["Char syndrome; 169100; TFAP2B"]
["Charcot-Marie-Tooth disease, axonal, type 2F; 606595; HSPB1"]
["Charcot-Marie-Tooth disease, axonal, type 2K; 607831; GDAP1"]
["Charcot-Marie-Tooth disease, axonal, type 2L; 608673; HSPB8"]
["Charcot-Marie-Tooth disease, axonal, type 2M; 606482; DNM2"]
["Charcot-Marie-Tooth disease, axonal, type 2N; 613287; AARS"]
["Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; 607706; GDAP1"]
["Charcot-Marie-Tooth disease, dominant intermediate 3; 607791; MPZ"]
["Charcot-Marie-Tooth disease, dominant intermediate B; 606482; DNM2"]
["Charcot-Marie-Tooth disease, dominant intermediate C; 608323; YARS"]
["Charcot-Marie-Tooth disease, recessive intermediate, A; 608340; GDAP1"]
["Charcot-Marie-Tooth disease, recessive intermediate, B; 613641; KARS"]
["Charcot-Marie-Tooth disease type 1A; 118220; PMP22"]
["Charcot-Marie-Tooth disease type 1B; 118200; MPZ"]
["Charcot-Marie-Tooth disease type 1C; 601098; LITAF"]
["Charcot-Marie-Tooth disease type 1D; 607678; EGR2"]
["Charcot-Marie-Tooth disease type 1E; 118300; PMP22"]
["Charcot-Marie-Tooth disease type 1F; 607734; NEFL"]
["Charcot-Marie-Tooth disease type 2A1; 118210; KIF1B"]
["Charcot-Marie-Tooth disease type 2A2; 609260; MFN2"]
["Charcot-Marie-Tooth disease type 2B; 600882; RAB7"]
["Charcot-Marie-Tooth disease type 2B1; 605588; LMNA"]
["Charcot-Marie-Tooth disease type 2B2; 605589; MED25"]
["Charcot-Marie-Tooth disease type 2D; 601472; GARS"]
["Charcot-Marie-Tooth disease type 2E; 607684; NEFL"]
["Charcot-Marie-Tooth disease type 2I; 607677; MPZ"]
["Charcot-Marie-Tooth disease type 2J; 607736; MPZ"]
["Charcot-Marie-Tooth disease type 4A; 214400; GDAP1"]
["Charcot-Marie-Tooth disease type 4B1; 601382; MTMR2"]
["Charcot-Marie-Tooth disease type 4B2; 604563; SBF2"]
["Charcot-Marie-Tooth disease type 4C; 601596; SH3TC2"]
["Charcot-Marie-Tooth disease type 4D; 601455; NDRG1"]
["Charcot-Marie-Tooth disease type 4F; 145900; PRX"]
["Charcot-Marie-Tooth disease type 4H; 609311; FGD4"]
["Charcot-Marie-Tooth disease type 4J; 611228; FIG4"]
["Charcot-Marie-Tooth disease, X-linked recessive, 5; 311070; PRPS1"]
["Charcot-Marie-Tooth neuropathy, X-linked dominant, 1; 302800; GJB1"]
["CHARGE syndrome; 214800; CHD7"]
["CHARGE syndrome; 214800; SEMA3E"]
["Chediak-Higashi syndrome; 214500; CHS1"]
["Cherubism; 118400; SH3BP2"]
["Chilblain lupus; 610448; TREX1"]
["CHILD syndrome; 308050; NSDHL"]
["Chloride diarrhea, congenital, Finnish type; 214700; SLC26A3"]
["Cholestasis, benign recurrent intrahepatic, 2; 605479; ABCB11"]
["Cholestasis, benign recurrent intrahepatic; 243300; ATP8B1"]
["Cholestasis, familial intrahepatic, of pregnancy; 147480; ABCB4"]
["Cholestasis, progressive familial intrahepatic 1; 211600; ATP8B1"]
["Cholestasis, progressive familial intrahepatic 2; 601847; ABCB11"]
["Cholestasis, progressive familial intrahepatic 3; 602347; ABCB4"]
["Cholestasis, progressive familial intrahepatic 4; 607765; HSD3B7"]
["Cholesteryl ester storage disease; 278000; LIPA"]
["Chondrocalcinosis 2; 118600; ANKH"]
["Chondrodysplasia punctata, rhizomelic, type 2; 222765; GNPAT"]
["Chondrodysplasia punctata, X-linked dominant; 302960; EBP"]
["Chondrodysplasia punctata, X-linked recessive; 302950; ARSE"]
["Chondrodysplasia, Blomstrand type; 215045; PTHR1"]
["Chondrodysplasia, Grebe type; 200700; GDF5"]
["Chondrosarcoma; 215300; EXT1"]
["Chondrosarcoma, extraskeletal myxoid; 612237; TAF15"]
["Chondrosarcoma, extraskeletal myxoid; 612237; TFG"]
["Chondrosarcoma, extraskeletal myxoid; 612237; CSMF"]
["Chorea, hereditary benign; 118700; NKX2-1"]
["Choreoacanthocytosis; 200150; VPS13A"]
["Choreoathetosis, hypothyroidism, and neonatal respiratory distress; 610978; NKX2-1"]
["Choriodal dystrophy, central areolar 2,; 613105; PRPH2"]
["Choroid plexus papilloma; 260500; TP53"]
[]
[]
["Choroideremia; 303100; CHM"]
["Chromosome 22q13.3 deletion syndrome; 606232; SHANK3"]
["Chromosome 5q14.3 deletion syndrome; 613443; MEF2C"]
["Chrondrodysplasia, acromesomelic, with genital anomalies; 609441; BMPR1B"]
["Chronic granulomatous disease due to deficiency of NCF-1; 233700; NCF1"]
["Chronic granulomatous disease due to deficiency of NCF-2; 233710; NCF2"]
["Chronic granulomatous disease, autosomal, due to deficiency of CYBA; 233690; CYBA"]
["Chronic granulomatous disease, X-linked; 306400; CYBB"]
["Chylomicron retention disease; 246700; SAR1B"]
["Ciliary dyskinesia, primary, 1, with or without situs inversus; 244400; DNAI1"]
["Ciliary dyskinesia, primary, 10; 612518; KTU"]
["Ciliary dyskinesia, primary, 11; 612649; RSPH4A"]
["Ciliary dyskinesia, primary, 12; 612650; RSPH9"]
["Ciliary dyskinesia, primary, 13; 613193; LRRC50"]
["Ciliary dyskinesia, primary, 3, with or without situs inversus; 608644; DNAH5"]
["Ciliary dyskinesia, primary, 6; 610852; TXNDC3"]
["Ciliary dyskinesia, primary, 7, with or without situs inversus; 611884; DNAH11"]
["Ciliary dyskinesia, primary, 9, with or without situs inversus; 612444; DNAI2"]
["CINCA syndrome; 607115; NLRP3"]
["Cirrhosis, North American Indian childhood type; 604901; CIRH1A"]
["Citrullinemia; 215700; ASS1"]
["Citrullinemia, adult-onset type II; 603471; SLC25A13"]
["Citrullinemia, type II, neonatal-onset; 605814; SLC25A13"]
["Cleft lip/palate-ectodermal dysplasia syndrome; 225060; HVEC"]
["Cleft palate and mental retardation; 119540; SATB2"]
["Cleft palate with ankyloglossia; 303400; TBX22"]
["Cleft palate, isolated; 119540; UBB"]
["Cleidocranial dysplasia; 119600; RUNX2"]
["C-like syndrome; 605039; CD96"]
["Clopidogrel, impaired responsiveness to; 609535; CYP2C"]
["Clubfoot, congenital; 119800; PITX1"]
["COACH syndrome; 216360; CC2D2A"]
["COACH syndrome; 216360; RPGRIP1L"]
["COACH syndrome; 216360; TMEM67"]
["Cockayne syndrome type A; 216400; ERCC8"]
["Cockayne syndrome type B; 133540; ERCC6"]
["Cocoon syndrome; 613630; CHUK"]
["Coenzyme Q10 deficiency; 607426; APTX"]
["Coenzyme Q10 deficiency; 607426; CABC1"]
["Coenzyme Q10 deficiency; 607426; COQ2"]
["Coenzyme Q10 deficiency; 607426; COQ9"]
["Coenzyme Q10 deficiency; 607426; PDSS1"]
["Coenzyme Q10 deficiency; 607426; PDSS2"]
["Coffin–Lowry syndrome; 303600; RPS6KA3"]
["Cohen syndrome; 216550; COH1"]
["Cold-induced autoinflammatory syndrome, familial; 120100; NLRP3"]
["Cold-induced sweating syndrome 1; 610313; CLCF1"]
["Cold-induced sweating syndrome; 272430; CRLF1"]
["Coloboma of optic nerve; 120430; PAX6"]
["Coloboma, ocular; 120200; PAX6"]
["Coloboma, ocular; 120200; SHH"]
["Colon cancer, somatic; 114500; PTPRJ"]
["Colorblindness, deutan; 303800; OPN1MW"]
["Colorblindness, tritan; 190900; OPN1SW"]
["Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; 132600; MUTYH"]
["Colorectal cancer; 114500; AXIN2"]
["Colorectal cancer; 114500; BUB1B"]
["Colorectal cancer; 114500; EP300"]
["Colorectal cancer; 114500; NRAS"]
["Colorectal cancer; 114500; PDGFRL"]
["Colorectal cancer; 114500; TP53"]
["Colorectal cancer, hereditary nonpolyposis, type 1; 120435; MSH2"]
["Colorectal cancer, hereditary nonpolyposis, type 2; 609310; MLH1"]
["Colorectal cancer, hereditary nonpolyposis, type I; 613244; EPCAM"]
["Colorectal cancer, somatic; 109800; FGFR3"]
["Colorectal cancer, somatic; 114500; AKT1"]
["Colorectal cancer, somatic; 114500; APC"]
["Colorectal cancer, somatic; 114500; FLCN"]
["Colorectal cancer, somatic; 114500; MLH3"]
["Colorectal cancer, somatic; 114500; PIK3CA"]
["Combined cellular and humoral immune defects with granulomas; 233650; RAG1"]
["Combined cellular and humoral immune defects with granulomas; 233650; RAG2"]
["Combined factor V and VIII deficiency; 227300; LMAN1"]
["Combined hyperlipidemia, familial; 144250; LPL"]
["Combined immunodeficiency, X-linked, moderate; 312863; IL2RG"]
["Combined oxidative phosphorylation deficiency 1; 609060; GFM1"]
["Combined oxidative phosphorylation deficiency 2; 610498; MRPS16"]
["Combined oxidative phosphorylation deficiency 3; 610505; TSFM"]
["Combined oxidative phosphorylation deficiency 4; 610678; TUFM"]
["Combined oxidative phosphorylation deficiency 5; 611719; MRPS22"]
["Combined oxidative phosphorylation deficiency 6; 300816; AIFM1"]
["Combined SAP deficiency; 611721; PSAP"]
["Complement component 4, partial deficiency of; 120790; C1NH"]
["Complement factor H deficiency; 609814; HF1"]
["Complement factor I deficiency; 610984; CFI"]
["Complex I, mitochondrial respiratory chain, deficiency of; 252010; NDUFS6"]
["Cone dystrophy 4; 613093; PDE6C"]
["Cone dystrophy-3; 602093; GUCA1A"]
["Cone-rod dystrophy 10; 610283; SEMA4A"]
["Cone-rod dystrophy 11; 610381; RAXL1"]
["Cone-rod dystrophy 12; 612657; PROM1"]
["Cone-rod dystrophy 13; 608194; RPGRIP1"]
["Cone-rod dystrophy 14; 602093; GUCA1A"]
["Cone-rod dystrophy 15; 613660; CDHR1"]
["Cone-rod dystrophy 3; 604116; ABCA4"]
["Cone-rod dystrophy 5; 600977; PITPNM3"]
["Cone-rod dystrophy; 601777; GUCY2D"]
["Cone-rod dystrophy 7; 603649; RIMS1"]
["Cone-rod dystrophy 9; 612775; ADAM9"]
["Cone-rod dystrophy, X-linked, 3; 300476; CACNA1F"]
["Cone-rod dystrophy-1; 304020; RPGR"]
["Cone-rod retinal dystrophy-2; 120970; CRX"]
["Congenital bilateral absence of vas deferens; 277180; CFTR"]
["Congenital cataracts, facial dysmorphism, and neuropathy; 604168; CTDP1"]
["Congenital disorder of glycosylation, type Ia; 212065; PMM2"]
["Congenital disorder of glycosylation, type Ic; 603147; ALG6"]
["Congenital disorder of glycosylation, type Id; 601110; ALG3"]
["Congenital disorder of glycosylation, type Ie; 608799; DPM1"]
["Congenital disorder of glycosylation, type If; 609180; MPDU1"]
["Congenital disorder of glycosylation, type Ig; 607143; ALG12"]
["Congenital disorder of glycosylation, type Ih; 608104; ALG8"]
["Congenital disorder of glycosylation, type Ii; 607906; ALG2"]
["Congenital disorder of glycosylation, type IIA; 212066; MGAT2"]
["Congenital disorder of glycosylation, type IIb; 606056; GCS1"]
["Congenital disorder of glycosylation type IIc; 266265; SLC35C1"]
["Congenital disorder of glycosylation, type IId; 607091; B4GALT1"]
["Congenital disorder of glycosylation, type IIe; 608779; COG7"]
["Congenital disorder of glycosylation, type IIf; 603585; SLC35A1"]
["Congenital disorder of glycosylation, type IIg; 611209; COG1"]
["Congenital disorder of glycosylation, type IIh; 611182; COG8"]
["Congenital disorder of glycosylation, type IIj; 613489; COG4"]
["Congenital disorder of glycosylation, type Ij; 608093; DPAGT2"]
["Congenital disorder of glycosylation, type Ik; 608540; ALG1"]
["Congenital disorder of glycosylation, type Il; 608776; ALG9"]
["Congenital disorder of glycosylation, type Im; 610768; TMEM15"]
["Congenital disorder of glycosylation, type In; 612015; RFT1"]
["Congenital disorder of glycosylation, type Io; 612937; DPM3"]
["Congenital disorder of glycosylation, type Ip; 612379; SRD5A3"]
["Congenital heart defects, nonsyndromic, 1, X-linked; 306955; ZIC3"]
["Congenital heart disease, nonsyndromic, 2; 612863; TAB2"]
["Conjunctivitis, ligneous; 217090; PLG"]
["Conotruncal anomaly face syndrome; 217095; TBX1"]
["Contractural arachnodactyly, congenital; 121050; FBN2"]
["Convulsions, benign familial infantile, 3; 607745; SCN2A1"]
["Convulsions, familial febrile, 4; 604352; GPR98"]
["COPD, rate of decline of lung function in; 606963; MMP1"]
["Coproporphyria; 121300; CPOX"]
["Cornea plana congenita, recessive; 217300; KERA"]
["Corneal dystrophy polymorphous posterior, 2; 609140; COL8A2"]
["Corneal dystrophy, Avellino type; 607541; TGFBI"]
["Corneal dystrophy, congenital stromal; 610048; DCN"]
["Corneal dystrophy, crystalline, of Schnyder; 121800; UBIAD1"]
["Corneal dystrophy, epithelial basement membrane; 121820; TGFBI"]
["Corneal dystrophy, Fuchs endothelial, 1; 136800; COL8A2"]
["Corneal dystrophy, Fuchs endothelial, 4; 613268; SLC4A11"]
["Corneal dystrophy, Fuchs endothelial, 6; 613270; ZEB1"]
["Corneal dystrophy, gelatinous drop-like; 204870; TACSTD2"]
["Corneal dystrophy, Groenouw type I; 121900; TGFBI"]
["Corneal dystrophy, hereditary polymorphous posterior; 122000; VSX1"]
["Corneal dystrophy, lattice type I; 122200; TGFBI"]
["Corneal dystrophy, lattice type IIIA; 608471; TGFBI"]
["Corneal dystrophy, posterior polymorphous, 3; 609141; ZEB1"]
["Corneal dystrophy, Reis-Bucklers type; 608470; TGFBI"]
["Corneal dystrophy, Thiel-Behnke type; 602082; TGFBI"]
["Corneal endothelial dystrophy 2; 217700; SLC4A11"]
["Corneal endothelial dystrophy and perceptive deafness; 217400; SLC4A11"]
["Corneal fleck dystrophy; 121850; PIKFYVE"]
["Cornelia de Lange syndrome 1; 122470; NIPBL"]
["Cornelia de Lange syndrome 2; 300590; DXS423E"]
["Cornelia de Lange syndrome 3; 610759; CSPG6"]
["Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; 300472; IGBP1"]
["Corpus callosum, partial agenesis of; 304100; L1CAM"]
["Cortical dysplasia-focal epilepsy syndrome; 610042; CNTNAP2"]
["Corticosteroid-binding globulin deficiency; 611489; CBG"]
["Cortisone reductase deficiency; 604931; H6PD"]
["Cortisone reductase deficiency; 604931; HSD11B1"]
["Costello syndrome; 218040; HRAS"]
["Coumarin resistance; 122700; CYP2A6"]
["Cousin syndrome; 260660; TBX15"]
["Cowden disease; 158350; PTEN"]
["Cowden-like syndrome; 612359; SDHB"]
["Cowden-like syndrome; 612359; SDHD"]
["CPT deficiency, hepatic, type IA; 255120; CPT1A"]
["CPT deficiency, hepatic, type II; 600649; CPT2"]
["CPT II deficiency, lethal neonatal; 608836; CPT2"]
["Cranioectodermal dysplasia; 218330; IFT122"]
["Craniofacial-deafness-hand syndrome; 122880; PAX3"]
["Craniofrontonasal dysplasia; 304110; EFNB1"]
["Cranio-lenticulo-sutural dysplasia; 607812; SEC23A"]
["Craniometaphyseal dysplasia; 123000; ANKH"]
["Cranioosteoarthropathy; 259100; HPGD"]
["Craniosynostosis, type 1; 123100; TWIST1"]
["Craniosynostosis, type 2; 604757; MSX2"]
["CRASH syndrome; 303350; L1CAM"]
["Creatine deficiency syndrome, X-linked; 300352; SLC6A8"]
["Creatine phosphokinase, elevated serum; 123320; CAV3"]
["Creutzfeldt–Jakob disease; 123400; PRNP"]
["Crigler Najjar syndrome type I; 218800; UGT1A1"]
["Crigler Najjar syndrome type II; 606785; UGT1A1"]
["Crisponi syndrome; 601378; CRLF1"]
["Crouzon syndrome with acanthosis nigricans; 612247; FGFR3"]
["Crouzon syndrome; 123500; FGFR2"]
["Cryptorchidism, bilateral; 219050; LGR8"]
["Cryptorchidism, idiopathic; 219050; INSL3"]
["Currarino syndrome; 176450; MNX1"]
["Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; 613177; LTBP4"]
["Cutis laxa, AD; 123700; ELN"]
["Cutis laxa, autosomal dominant; 123700; FBLN5"]
["Cutis laxa, autosomal recessive; 219100; FBLN5"]
["Cutis laxa, autosomal recessive, type I; 219100; EFEMP2"]
["Cutis laxa, autosomal recessive, type II; 219200; ATP6V0A2"]
["Cutis laxa, autosomal recessive, type IIB; 612940; PYCR1"]
["Cutis laxa, recessive, type I; 219100; LOX"]
["Cylindromatosis, familial; 132700; CYLD1"]
["Cystathioninuria; 219500; CTH"]
["Cystic fibrosis; 219700; CFTR"]
["Cystinosis, late-onset juvenile or adolescent nephropathic; 219900; CTNS"]
["Cystinosis, nephropathic; 219800; CTNS"]
["Cystinosis, ocular nonnephropathic; 219750; CTNS"]
["Cystinuria; 220100; SLC3A1"]
["Cystinuria; 220100; SLC7A9"]
["Cytochrome C oxidase deficiency; 220110; COX6B1"]
["D-2-hydroxyglutaric aciduria; 600721; D2HGDH"]
["Dandy-Walker malformation; 220200; ZIC1"]
["Dandy-Walker malformation; 220200; ZIC4"]
["Darier disease; 124200; ATP2A2"]
["Darsun syndrome; 612541; G6PC3"]
["D-bifunctional protein deficiency; 261515; HSD17B4"]
["De la Chapelle dysplasia; 256050; SLC26A2"]
["De Sanctis-Cacchione syndrome; 278800; ERCC6"]
["Deafness, autosomal dominant 1; 124900; DIAPH1"]
["Deafness, autosomal dominant 10; 601316; EYA4"]
["Deafness, autosomal dominant 11, neurosensory; 601317; MYO7A"]
["Deafness, autosomal dominant 13; 601868; COL11A2"]
["Deafness, autosomal dominant 15; 602459; POU4F3"]
["Deafness, autosomal dominant 17; 603622; MYH9"]
["Deafness, autosomal dominant 20/26; 604717; ACTG1"]
["Deafness, autosomal dominant 22; 606346; MYO6"]
["Deafness, autosomal dominant 23; 605192; SIX1"]
["Deafness, autosomal dominant 25; 605583; SLC17A8"]
["Deafness, autosomal dominant 28; 608641; GRHL2"]
["Deafness, autosomal dominant 2A; 600101; KCNQ4"]
["Deafness, autosomal dominant 2B; 612644; GJB3"]
["Deafness, autosomal dominant 36; 606705; TMC1"]
["Deafness, autosomal dominant 36, with dentinogenesis; 605594; DSPP"]
["Deafness, autosomal dominant 3A; 601544; GJB2"]
["Deafness, autosomal dominant 3B; 612643; GJB6"]
["Deafness, autosomal dominant 4; 600652; MYH14"]
["Deafness, autosomal dominant 44; 607453; CCDC50"]
["Deafness, autosomal dominant 48; 607841; MYO1A"]
["Deafness, autosomal dominant 5; 600994; DFNA5"]
["Deafness, autosomal dominant 50; 613074; MIR96"]
["Deafness, autosomal dominant 8/12; 601543; TECTA"]
["Deafness, autosomal dominant 9; 601369; COCH"]
["Deafness, autosomal recessive 10, congenital; 605316; TMPRSS3"]
["Deafness, autosomal recessive 12; 601386; CDH23"]
["Deafness, autosomal recessive 16; 603720; STRC"]
["Deafness, autosomal recessive 18; 602092; USH1C"]
["Deafness, autosomal recessive 1A; 220290; GJB2"]
["Deafness, autosomal recessive 1B; 612645; GJB6"]
["Deafness, autosomal recessive 2, neurosensory; 600060; MYO7A"]
["Deafness, autosomal recessive 21; 603629; TECTA"]
["Deafness, autosomal recessive 22; 607039; OTOA"]
["Deafness, autosomal recessive 23; 609533; PCDH15"]
["Deafness, autosomal recessive 25; 613285; GRXCR1"]
["Deafness, autosomal recessive 28; 609823; TRIOBP"]
["Deafness, autosomal recessive 3; 600316; MYO15A"]
["Deafness, autosomal recessive 30; 607101; MYO3A"]
["Deafness, autosomal recessive 31; 607084; WHRN"]
["Deafness, autosomal recessive 35; 608565; ESRRB"]
["Deafness, autosomal recessive 36; 609006; ESPN"]
["Deafness, autosomal recessive 37; 607821; MYO6"]
["Deafness, autosomal recessive 39; 608265; HGF"]
["Deafness, autosomal recessive 49; 610153; MARVELD2"]
["Deafness, autosomal recessive 53; 609706; COL11A2"]
["Deafness, autosomal recessive 59; 610220; PJVK"]
["Deafness, autosomal recessive 6; 600971; TMIE"]
["Deafness, autosomal recessive 63; 611451; LRTOMT"]
["Deafness, autosomal recessive 67; 610265; LHFPL5"]
["Deafness, autosomal recessive 7; 600974; TMC1"]
["Deafness, autosomal recessive 77; 613079; LOXHD1"]
["Deafness, autosomal recessive 79; 613307; TPRN"]
["Deafness, autosomal recessive 8, childhood onset; 601072; TMPRSS3"]
["Deafness, autosomal recessive 84; 613391; PTPRQ"]
["Deafness, autosomal recessive 9; 601071; OTOF"]
["Deafness, autosomal recessive 91; 613453; SERPINB6"]
["Deafness, autosomal recessive, 24; 611022; RDX"]
["Deafness, congenital with inner ear agenesis, microtia, and microdontia; 610706; FGF3"]
["Deafness, digenic GJB2/GJB6; 220290; GJB6"]
["Deafness, digenic, GJB2/GJB3; 220290; GJB3"]
["Deafness, sensorineural, with hypertrophic cardiomyopathy; 606346; MYO6"]
["Deafness, X-linked 1; 304500; PRPS1"]
["Deafness, X-linked 2; 304400; POU3F4"]
["Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema; 603528; PIEZO1"]
["Dejerine-Sottas disease; 145900; PMP22"]
["Dejerine-Sottas neuropathy; 145900; EGR2"]
["Dejerine-Sottas neuropathy, autosomal recessive; 145900; PRX"]
["Dejerine-Sottas syndrome; 145900; MPZ"]
["Dementia, familial British; 176500; ITM2B"]
["Dementia, familial Danish; 117300; ITM2B"]
["Dementia, familial, nonspecific; 600795; CHMP2B"]
["Dementia, frontotemporal; 600274; PSEN1"]
["Dementia, frontotemporal, with or without parkinsonism; 600274; MAPT"]
["Dementia, Lewy body; 127750; SNCA"]
["Dementia, Lewy body; 127750; SNCB"]
["Dent disease 2; 300555; OCRL"]
["Dent disease; 300009; CLCN5"]
["Dentatorubropallidoluysian atrophy; 125370; ATN1"]
["Dentin dysplasia, type II; 125420; DSPP"]
["Dentinogenesis imperfecta, Shields type II; 125490; DSPP"]
["Dentinogenesis imperfecta, Shields type III; 125500; DSPP"]
["Denys-Drash syndrome; 194080; WT1"]
["Dermatopathia pigmentosa reticularis; 125595; KRT14"]
["Desbuquois dysplasia; 251450; CANT1"]
["Desmoid disease, hereditary; 135290; APC"]
["Desmosterolosis; 602398; DHCR24"]
["Diabetes insipidus, nephrogenic; 125800; AQP2"]
["Diabetes insipidus, nephrogenic; 304800; AVPR2"]
["Diabetes insipidus, neurohypophyseal; 125700; AVP"]
["Diabetes mellitus, gestational; 125851; GCK"]
["Diabetes mellitus, insulin-dependent, 2; 125852; INS"]
["Diabetes mellitus, insulin-dependent, 20; 612520; HNF1A"]
["Diabetes mellitus, insulin-resistant, with acanthosis nigricans; 610549; INSR"]
["Diabetes mellitus, ketosis-prone; 612227; PAX4"]
["Diabetes mellitus, neonatal, with congenital hypothyroidism; 610199; GLIS3"]
["Diabetes mellitus, noninsulin-dependent; 125853; ABCC8"]
["Diabetes mellitus, noninsulin-dependent; 125853; HNF1B"]
["Diabetes mellitus, noninsulin-dependent, late onset; 125853; GCK"]
["Diabetes mellitus, permanent neonatal; 606176; ABCC8"]
["Diabetes mellitus, permanent neonatal; 606176; GCK"]
["Diabetes mellitus, permanent neonatal; 606176; INS"]
["Diabetes mellitus, permanent neonatal, with cerebellar agenesis; 609069; PTF1A"]
["Diabetes mellitus, permanent neonatal, with neurologic features; 606176; KCNJ11"]
["Diabetes mellitus, transient neonatal 2; 610374; ABCC8"]
["Diabetes mellitus, transient neonatal, 1; 601410; ZFP57"]
["Diabetes mellitus, transient neonatal, 3; 610582; KCNJ11"]
["Diabetes mellitus, type 1; 125852; INS"]
["Diabetes mellitus, type 2; 125853; PAX4"]
["Diabetes mellitus type II; 125853; AKT2"]
["Diabetes, permanent neonatal; 606176; KCNJ11"]
["Diamond-Blackfan anemia 1; 105650; RPS19"]
["Diamond-Blackfan anemia 10; 613309; RPS26"]
["Diamond-Blackfan anemia 4; 612527; RPS17"]
["Diamond-Blackfan anemia 5; 612528; RPL35A"]
["Diamond-Blackfan anemia 6; 612561; RPL5"]
["Diamond-Blackfan anemia 7; 612562; RPL11"]
["Diamond-Blackfan anemia 8; 612563; RPS7"]
["Diamond-Blackfan anemia 9; 613308; RPS10"]
["Diamond-blackfan anemia; 610629; RPS24"]
["Diaphragmatic hernia 3; 610187; ZFPM2"]
["Diarrhea 3, secretory sodium, congenital, syndromic; 270420; SPINT2"]
["Diarrhea 4, malabsorptive, congenital; 610370; NEUROG3"]
["Diarrhea 5, with tufting enteropathy, congenital; 613217; EPCAM"]
["Diastrophic dysplasia; 222600; SLC26A2"]
["Diastrophic dysplasia, broad bone-platyspondylic variant; 222600; SLC26A2"]
["Dicarboxylic aminoaciduria; 222730; SLC1A1"]
["DiGeorge syndrome; 188400; TBX1"]
["Digital clubbing, isolated congenital; 119900; HPGD"]
["Dihydropyrimidine dehydrogenase deficiency; 274270; DPYD"]
["Dihydropyrimidinuria; 222748; DPYS"]
["Dilated cardiomyopathy with woolly hair and keratoderma; 605676; DSP"]
["Dimethylglycine dehydrogenase deficiency; 605850; DMGDH"]
["Disordered steroidogenesis, isolated; 201750; POR"]
["Donnai-Barrow syndrome; 222448; LRP2"]
["Dopamine beta-hydroxylase deficiency; 223360; DBH"]
["Dosage-sensitive sex reversal; 300018; DAX1"]
["Double outlet right ventricle; 217095; CFC1"]
["Double outlet right ventricle; 217095; GDF1"]
["Dowling-Degos disease; 179850; KRT5"]
["Doyne honeycomb degeneration of retina; 126600; EFEMP1"]
["Dravet syndrome; 607208; SCN1A"]
["Duane retraction syndrome 2; 604356; CHN1"]
["Duane-radial ray syndrome; 607323; SALL4"]
["Dubin-Johnson syndrome; 237500; ABCC2"]
["Duchenne muscular dystrophy; 310200; DMD"]
["Dyggve-Melchior-Clausen disease; 223800; DYM"]
["Dysautonomia, familial; 223900; IKBKAP"]
["Dyschromatosis symmetrica hereditaria; 127400; ADAR"]
["Dyserythropoietic anemia with thrombocytopenia; 300367; GATA1"]
["Dyskeratosis congenita; 127550; TERT"]
["Dyskeratosis congenita; 224230; NOLA2"]
["Dyskeratosis congenita, autosomal dominant; 127550; TERC"]
["Dyskeratosis congenita, autosomal dominant; 127550; TINF2"]
["Dyskeratosis congenita, autosomal recessive; 224230; NOLA3"]
["Dyskeratosis congenita-1; 305000; DKC1"]
["Dyssegmental dysplasia, Silverman-Handmaker type; 224410; HSPG2"]
["Dystonia 16; 612067; PRKRA"]
["Dystonia 6, torsion; 602629; THAP1"]
["Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; 612716; SPR"]
["Dystonia, DOPA-responsive, with or without hyperphenylalainemia; 233910; GCH1"]
["Dystonia, juvenile-onset; 607371; ACTB"]
["Dystonia, myoclonic; 159900; DRD2"]
["Dystonia-1, torsion; 128100; DYT1"]
["Dystonia-11, myoclonic; 159900; SGCE"]
["Dystonia-12; 128235; ATP1A3"]
["Dystonia-parkinsonism, adult-onset; 612953; PLA2G6"]
["Dystonia-Parkinsonism, X-linked; 314250; TAF1"]
["EBD inversa; 226600; COL7A1"]
["EBD, Bart type; 132000; COL7A1"]
["Ectodermal dysplasia, anhidrotic, autosomal dominant; 129490; EDARADD"]
["Ectodermal dysplasia, anhidrotic, autosomal recessive; 224900; EDARADD"]
["Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency; 612132; NFKBIA"]
["Ectodermal dysplasia, anhidrotic, X-linked; 305100; ED1"]
["Ectodermal dysplasia, ectrodactyly, and macular dystrophy; 225280; CDH3"]
["Ectodermal dysplasia, hidrotic; 129500; GJB6"]
["Ectodermal dysplasia, hypohidrotic, autosomal dominant; 129490; EDAR"]
["Ectodermal dysplasia, hypohidrotic, autosomal recessive; 224900; EDAR"]
["Ectodermal dysplasia, hypohidrotic, with immune deficiency; 300291; IKBKG"]
["Ectodermal dysplasia, 'pure' hair-nail type; 602032; KRT85"]
["Ectodermal dysplasia-skin fragility syndrome; 604536; PKP1"]
["Ectodermal dysplasia-syndactyly syndrome 1; 613573; PVRL4"]
["Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency; 300301; IKBKG"]
["Ectopia lentis, familial; 129600; FBN1"]
["Ectopia lentis, isolated, autosomal recessive; 225100; ADAMTSL4"]
["Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; 604292; TP63"]
["Ehlers-Danlos due to tenascin X deficiency; 606408; TNXB"]
["Ehlers-Danlos syndrome, cardiac valvular form; 225320; COL1A2"]
["Ehlers-Danlos syndrome, hypermobility type; 130020; TNXB"]
["Ehlers-Danlos syndrome, musculocontractural type; 601776; CHST14"]
["Ehlers-Danlos syndrome, progeroid form; 130070; B4GALT7"]
["Ehlers-Danlos syndrome, type I; 130000; COL1A1"]
["Ehlers-Danlos syndrome, type I; 130000; COL5A1"]
["Ehlers-Danlos syndrome, type I; 130000; COL5A2"]
["Ehlers-Danlos syndrome, type II; 130010; COL5A1"]
["Ehlers-Danlos syndrome, type III; 130020; COL3A1"]
["Ehlers-Danlos syndrome, type IV; 130050; COL3A1"]
["Ehlers-Danlos syndrome, type VI; 225400; PLOD"]
["Ehlers-Danlos syndrome, type VIIA; 130060; COL1A1"]
["Ehlers-Danlos syndrome, type VIIB; 130060; COL1A2"]
["Ehlers-Danlos syndrome, type VIIC; 225410; ADAMTS2"]
["Eiken syndrome; 600002; PTHR1"]
["Elliptocytosis-1; 611804; EPB41"]
["Elliptocytosis-2; 130600; SPTA1"]
["Ellis-van Creveld syndrome; 225500; EVC"]
["Ellis-van Creveld syndrome; 225500; LBN"]
["Emery–Dreifuss muscular dystrophy 4; 612998; SYNE1"]
["Emery–Dreifuss muscular dystrophy 5; 612999; SYNE2"]
["Emery–Dreifuss muscular dystrophy 6; 300696; FHL1"]
["Emery–Dreifuss muscular dystrophy; 310300; EMD"]
["Emery–Dreifuss muscular dystrophy, AD; 181350; LMNA"]
["Emery–Dreifuss muscular dystrophy, AR; 181350; LMNA"]
["Emphysema due to AAT deficiency; 613490; SERPINA1"]
["Emphysema-cirrhosis, due to AAT deficiency; 613490; SERPINA1"]
["Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency; 604273; TMEM70"]
["Encephalopathy, familial, with neuroserpin inclusion bodies; 604218; SERPINI1"]
["Encephalopathy, neonatal severe; 300673; MECP2"]
["Endocrine-cerebroosteodysplasia; 612651; ICK"]
["Endometrial cancer; 608089; MLH3"]
["Endometrial cancer, familial; 608089; MSH6"]
["Endplate acetylcholinesterase deficiency; 603034; COLQ"]
["Enhanced S-cone syndrome; 268100; NR2E3"]
["Enlarged vestibular aqueduct; 600791; FOXI1"]
["Enlarged vestibular aqueduct; 600791; SLC26A4"]
["Enterokinase deficiency; 226200; PRSS7"]
["Eosinophil peroxidase deficiency; 261500; EPX"]
["Epidermodysplasia verruciformis; 226400; TMC6"]
["Epidermodysplasia verruciformis; 226400; TMC8"]
["Epidermolysis bullosa dystrophica, AD; 131750; COL7A1"]
["Epidermolysis bullosa dystrophica, AR; 226600; COL7A1"]
["Epidermolysis bullosa of hands and feet; 131800; ITGB4"]
["Epidermolysis bullosa pruriginosa; 604129; COL7A1"]
["Epidermolysis bullosa simplex with migratory circinate erythema; 609352; KRT5"]
["Epidermolysis bullosa simplex with mottled pigmentation; 131960; KRT5"]
["Epidermolysis bullosa simplex with pyloric atresia; 612138; PLEC1"]
["Epidermolysis bullosa simplex, Dowling-Meara type; 131760; KRT14"]
["Epidermolysis bullosa simplex, Dowling-Meara type; 131760; KRT5"]
["Epidermolysis bullosa simplex, Koebner type; 131900; KRT14"]
["Epidermolysis bullosa simplex, Koebner type; 131900; KRT5"]
["Epidermolysis bullosa simplex, Ogna type; 131950; PLEC1"]
["Epidermolysis bullosa simplex, recessive; 601001; KRT14"]
["Epidermolysis bullosa simplex, Weber-Cockayne type; 131800; KRT14"]
["Epidermolysis bullosa simplex, Weber-Cockayne type; 131800; KRT5"]
["Epidermolysis bullosa, generalized atrophic benign; 226650; LAMA3"]
["Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMA3"]
["Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMB3"]
["Epidermolysis bullosa, junctional, Herlitz type; 226700; LAMC2"]
["Epidermolysis bullosa, junctional, non-Herlitz type; 226650; COL17A1"]
["Epidermolysis bullosa, junctional, non-Herlitz type; 226650; ITGB4"]
["Epidermolysis bullosa, junctional, non-Herlitz type; 226650; LAMB3"]
["Epidermolysis bullosa, junctional, non-Herlitz type; 226650; LAMC2"]
["Epidermolysis bullosa, junctional, with pyloric atresia; 226730; ITGB4"]
["Epidermolysis bullosa, junctional, with pyloric stenosis; 226730; ITGA6"]
["Epidermolysis bullosa, lethal acantholytic; 609638; DSP"]
["Epidermolysis bullosa, pretibial; 131850; COL7A1"]
["Epidermolytic hyperkeratosis; 113800; KRT1"]
["Epidermolytic hyperkeratosis; 113800; KRT10"]
["Epidermolytic palmoplantar keratoderma; 144200; KRT9"]
["Epilepsy, benign neonatal, type 2; 121201; KCNQ3"]
["Epilepsy, benign, neonatal, type 1; 121200; KCNQ2"]
["Epilepsy, female-restricted, with mental retardation; 300088; PCDH19"]
["Epilepsy, generalized, with febrile seizures plus, type 2; 604233; SCN1A"]
["Epilepsy, generalized, with febrile seizures plus, type 3; 604233; GABRG2"]
["Epilepsy, juvenile myoclonic, susceptibility to; 613060; GABRD"]
["Epilepsy, myoclonic, Lafora type; 254780; EPM2A"]
["Epilepsy, myoclonic, Lafora type; 254780; NHLRC1"]
["Epilepsy, myoclonic, with mental retardation and spasticity; 300432; ARX"]
["Epilepsy, neonatal myoclonic, with suppression-burst pattern; 609304; SLC25A22"]
["Epilepsy, nocturnal frontal lobe, 1; 600513; CHRNA4"]
["Epilepsy, nocturnal frontal lobe, 3; 605375; CHRNB2"]
["Epilepsy, nocturnal frontal lobe, type 4; 610353; CHRNA2"]
["Epilepsy, partial, with auditory features; 600512; LGI1"]
["Epilepsy, progressive myoclonic 1; 254800; CSTB"]
["Epilepsy, progressive myoclonic 1B; 612437; PRICKLE1"]
["Epilepsy, progressive myoclonic 2B; 254780; NHLRC1"]
["Epilepsy, progressive myoclonic 3; 611726; KCTD7"]
["Epilepsy, pyridoxine-dependent; 266100; ALDH7A1"]
["Epilepsy, severe myoclonic, of infancy; 607208; SCN1A"]
["Epilepsy, X-linked, with variable learning disabilities and behavior disorders; 300491; SYN1"]
["Epileptic encephalopathy, early infantile, 1; 308350; ARX"]
["Epileptic encephalopathy, early infantile, 2; 300672; CDKL5"]
["Epileptic encephalopathy, early infantile, 4; 612164; STXBP1"]
["Epileptic encephalopathy, early infantile, 5; 613477; SPTAN1"]
["Epileptic encephalopathy, Lennox-Gastaut type; 606369; MAPK10"]
["Epiphyseal dysplasia, multiple 1; 132400; COMP"]
["Epiphyseal dysplasia, multiple, 2; 600204; COL9A2"]
["Epiphyseal dysplasia, multiple, 3; 600969; COL9A3"]
["Epiphyseal dysplasia, multiple, 4; 226900; SLC26A2"]
["Epiphyseal dysplasia, multiple, 5; 607078; MATN3"]
["Epiphyseal dysplasia, multiple, with myopia and deafness; 132450; COL2A1"]
["Episodic ataxia, type 2; 108500; CACNA1A"]
["Episodic ataxia, type 6; 612656; SLC1A3"]
["Episodic ataxia/myokymia syndrome; 160120; KCNA1"]
["Epstein syndrome; 153650; MYH9"]
["Erythermalgia, primary; 133020; SCN9A"]
["Erythrocyte lactate transporter defect; 245340; SLC16A1"]
["Erythrocytosis, familial, 3; 609820; EGLN1"]
["Erythrocytosis, familial, 4; 611783; EPAS1"]
["Erythrokeratodermia variabilis et progressiva; 133200; GJB3"]
["Erythrokeratodermia variabilis with erythema gyratum repens; 133200; GJB4"]
["Escobar syndrome; 265000; CHRNG"]
["Esophageal cancer; 133239; DLEC1"]
["Esophageal cancer, somatic; 133239; TGFBR2"]
["Esophageal carcinoma, somatic; 133239; RNF6"]
["Esophageal squamous cell carcinoma; 133239; 40513"]
["Esophageal squamous cell carcinoma; 133239; LZTS1"]
["Esophageal squamous cell carcinoma; 133239; WWOX"]
["Ethylmalonic encephalopathy; 602473; ETHE1"]
["Ewing sarcoma; 612219; EWSR1"]
["Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; 612714; COX4I2"]
["Exostoses, multiple, type 1; 133700; EXT1"]
["Exostoses, multiple, type 2; 133701; EXT2"]
["Exudative vitreoretinopathy 4; 601813; LRP5"]
["Exudative vitreoretinopathy 5; 613310; TSPAN12"]
["Exudative vitreoretinopathy; 133780; FZD4"]
["Exudative vitreoretinopathy, X-linked; 305390; NDP"]
["Fabry disease; 301500; GLA"]
["Fabry disease, cardiac variant; 301500; GLA"]
["Factor V and factor VIII, combined deficiency of; 227300; MCFD2"]
["Factor V deficiency; 227400; F5"]
["Factor XI deficiency, autosomal dominant; 612416; F11"]
["Factor XI deficiency, autosomal recessive; 612416; F11"]
["Factor XII deficiency; 234000; F12"]
["Factor XIIIA deficiency; 613225; F13A1"]
["Factor XIIIB deficiency; 613235; F13B"]
["Failure of tooth eruption, primary; 125350; PTHR1"]
["Familial cold autoinflammatory syndrome 2; 611762; NALP12"]
["Familial Mediterranean fever, AD; 134610; MEFV"]
["Familial Mediterranean fever, AR; 249100; MEFV"]
["Fanconi anemia, complementation group 0; 613390; RAD51C"]
["Fanconi anemia, complementation group A; 227650; FANCA"]
["Fanconi anemia, complementation group B; 300514; FAAP95"]
["Fanconi anemia, complementation group D1; 605724; BRCA2"]
["Fanconi anemia, complementation group I; 609053; FANCI"]
["Fanconi anemia, complementation group J; 609054; BRIP1"]
["Fanconi anemia, complementation group N; 610832; PALB2"]
["Fanconi renotubular syndrome 2; 613388; SLC34A1"]
["Fanconi-Bickel syndrome; 227810; SLC2A2"]
["Farber lipogranulomatosis; 228000; ASAH1"]
["Fatty liver, acute, of pregnancy; 609016; HADHA"]
["Febrile convulsions, familial, 3A; 604403; SCN1A"]
["Febrile convulsions, familial, 3B; 604403; SCN9A"]
["Febrilel, convulsions, familial; 611277; GABRG2"]
["Fechtner syndrome; 153640; MYH9"]
["Feingold syndrome; 164280; MYCN"]
["Fertile eunuch syndrome; 228300; GNRHR"]
["Fetal akinesia deformation sequence; 208150; DOK7"]
["Fetal akinesia deformation sequence; 208150; RAPSN"]
["Fetal hemoglobin quantitative trait locus 1; 141749; HBG1"]
["Fetal hemoglobin quantitative trait locus 1; 141749; HBG2"]
["FG syndrome 2; 300321; FLNA"]
["FG syndrome 4; 300422; CASK"]
["Fibrodysplasia ossificans progressiva; 135100; ACVR1"]
["Fibromatosis, gingival; 135300; SOS1"]
["Fibromatosis, gingival, 2; 135300; GINGF2"]
["Fibromatosis, juvenile hyaline; 228600; ANTXR2"]
["Fibrosis of extraocular muscles, congenital, 1; 135700; KIF21A"]
["Fibrosis of extraocular muscles, congenital, 2; 602078; PHOX2A"]
["Fibrosis of extraocular muscles, congenital, 3A; 600638; TUBB3"]
["Fibrosis of extraocular muscles, congenital, 3B; 135700; KIF21A"]
["Fibular hypoplasia and complex brachydactyly; 228900; GDF5"]
["Fish-eye disease; 136120; LCAT"]
["Fletcher factor deficiency; 612423; KLKB1"]
["Focal cortical dysplasia, Taylor balloon cell type; 607341; TSC1"]
["Focal dermal hypoplasia; 305600; PORCN"]
["Folate malabsorption, hereditary; 229050; SLC46A1"]
["Follicle-stimulating hormone deficiency, isolated; 229070; FSHB"]
["Foveal hyperplasia; 136520; PAX6"]
["Foveomacular dystrophy, adult-onset, with choroidal neovascularization; 608161; PRPH2"]
["Fragile X syndrome; 300624; FMR1"]
["Fragile X tremor/ataxia syndrome; 300623; FMR1"]
["Frank-ter Haar syndrome; 249420; SH3PXD2B"]
["Fraser syndrome; 219000; FRAS1"]
["Fraser syndrome; 219000; FREM2"]
["Frasier syndrome; 136680; WT1"]
["Friedreich ataxia with retained reflexes; 229300; FXN"]
["Friedreich ataxia; 229300; FXN"]
["Frontometaphyseal dysplasia; 305620; FLNA"]
["Frontonasal dysplasia 2; 613451; ALX4"]
["Frontonasal dysplasia 3; 613456; ALX1"]
["Frontorhiny; 136760; ALX3"]
["Frontotemporal lobar degeneration with ubiquitin-positive inclusions; 607485; GRN"]
["Frontotemporal lobar degeneration, TARDBP-related; 612069; TARDBP"]
["Fructose intolerance; 229600; ALDOB"]
["Fructose-1,6-bisphosphatase deficiency; 229700; FBP1"]
["Fucosidosis; 230000; FUCA1"]
["Fuhrmann syndrome; 228930; WNT7A"]
["Fumarase deficiency; 606812; FH"]
["Fundus albipunctatus; 136880; RDH5"]
["Fundus albipunctatus; 136880; RLBP1"]
["Fundus flavimaculatus; 248200; ABCA4"]
["GABA-transaminase deficiency; 613163; ABAT"]
["Galactokinase deficiency with cataracts; 230200; GALK1"]
["Galactose epimerase deficiency; 230350; GALE"]
["Galactosemia; 230400; GALT"]
["Galactosialidosis; 256540; CTSA"]
["Gallbladder disease 1; 600803; ABCB4"]
["Gallbladder disease 4; 611465; ABCG8"]
["GAMT deficiency; 612736; GAMT"]
["Gastric cancer, familial diffuse; 137215; CDH1"]
["Gastric cancer, somatic; 137215; APC"]
["Gastric cancer, somatic; 137215; CASP10"]
["Gastric cancer, somatic; 137215; ERBB2"]
["Gastric cancer, somatic; 137215; FGFR2"]
["Gastric cancer, somatic; 137215; IRF1"]
["Gastric cancer, somatic; 137215; KLF6"]
["Gastric cancer, somatic; 137215; MUTYH"]
["Gastric cancer, somatic; 137215; PIK3CA"]
["Gastrointestinal stromal tumor, somatic; 606764; KIT"]
["Gastrointestinal stromal tumor, somatic; 606764; PDGFRA"]
["Gaucher disease, atypical; 610539; PSAP"]
["Gaucher disease, perinatal lethal; 608013; GBA"]
["Gaucher disease, type; 230800; GBA"]
["Gaucher disease, type II; 230900; GBA"]
["Gaucher disease, type III; 231000; GBA"]
["Gaucher disease, type IIIC; 231005; GBA"]
["Gaze palsy, horizontal, with progressive scoliosis; 607313; ROBO3"]
["Geleophysic dysplasia; 231050; ADAMTSL2"]
["Generalized epilepsy and paroxysmal dyskinesia; 609446; KCNMA1"]
["Generalized epilepsy with febrile seizures plus; 604233; SCN1B"]
["Germ cell tumors; 273300; KIT"]
["Geroderma osteodysplasticum; 231070; SCYL1BP1"]
["Gerstmann–Sträussler–Scheinker syndrome; 137440; PRNP"]
["Ghosal syndrome; 231095; TBXAS1"]
["Giant axonal neuropathy-1; 256850; GAN"]
["Gillespie syndrome; 206700; PAX6"]
["Gitelman syndrome; 263800; SLC12A3"]
["Glanzmann thrombasthenia, type A; 273800; ITGA2B"]
["Glaucoma 1, open angle, 1O; 613100; NTF4"]
["Glaucoma 1, open angle, E; 137760; OPTN"]
["Glaucoma 1, open angle, G; 609887; WDR36"]
["Glaucoma 1A, primary open angle, juvenile-onset; 137750; MYOC"]
["Glaucoma 1B, primary open angle, adult onset; 137760; GLC1B"]
["Glaucoma 3, primary congenital, D; 613086; LTBP2"]
["Glaucoma 3A, primary congenital; 231300; CYP1B1"]
["Glaucoma, primary open angle, adult-onset; 137760; CYP1B1"]
["Glaucoma, primary open angle, juvenile-onset; 137750; CYP1B1"]
["Glioblastoma, somatic; 137800; ERBB2"]
["Globozoospermia; 102530; GOPC"]
["Globozoospermia; 102530; SPATA16"]
["Glomerulocystic kidney disease with hyperuricemia and isosthenuria; 609886; UMOD"]
["Glomerulopathy with fibronectin deposits 2; 601894; FN1"]
["Glomerulosclerosis, focal segmental, 1; 603278; ACTN4"]
["Glomerulosclerosis, focal segmental, 2; 603965; TRPC6"]
["Glomerulosclerosis, focal segmental, 3; 607832; CD2AP"]
["Glomerulosclerosis, focal segmental, 5; 613237; INF2"]
["Glomuvenous malformations; 138000; GLML"]
["Glucocorticoid deficiency 2; 607398; MRAP"]
["Glucocorticoid deficiency, due to ACTH unresponsiveness; 202200; MC2R"]
["Glucose-galactose malabsorption; 606824; SLC5A1"]
["GLUT1 deficiency syndrome 1; 606777; SLC2A1"]
["GLUT1 deficiency syndrome 2; 612126; SLC2A1"]
["Glutamate formiminotransferase deficiency; 229100; FTCD"]
["Glutamine deficiency, congenital; 610015; GLUL"]
["Glutaricaciduria, type I; 231670; GCDH"]
["Glutaricaciduria, type IIA; 231680; ETFA"]
["Glutaricaciduria, type IIB; 231680; ETFB"]
["Glutaricaciduria, type IIC; 231680; ETFDH"]
["Glutathione synthetase deficiency; 266130; GSS"]
["Glycerol kinase deficiency; 307030; GK"]
["Glycine encephalopathy; 605899; AMT"]
["Glycine encephalopathy; 605899; GCSH"]
["Glycine encephalopathy; 605899; GLDC"]
["Glycine N-methyltransferase deficiency; 606664; GNMT"]
["Glycogen storage disease 0, muscle; 611556; GYS1"]
["Glycogen storage disease Ib; 232220; SLC37A4"]
["Glycogen storage disease Ic; 232240; SLC37A4"]
["Glycogen storage disease Ic; 232240; SLC17A3"]
["Glycogen storage disease II; 232300; GAA"]
["Glycogen storage disease IIb; 300257; LAMP2"]
["Glycogen storage disease IIIa; 232400; AGL"]
["Glycogen storage disease IIIb; 232400; AGL"]
["Glycogen storage disease IV; 232500; GBE1"]
["Glycogen storage disease IXc; 613027; PHKG2"]
["Glycogen storage disease of heart, lethal congenital; 261740; PRKAG2"]
["Glycogen storage disease VII; 232800; PFKM"]
["Glycogen storage disease X; 261670; PGAM2"]
["Glycogen storage disease XI; 612933; LDHA"]
["Glycogen storage disease XII; 611881; ALDOA"]
["Glycogen storage disease XIII; 612932; ENO3"]
["Glycogen storage disease XIV; 612934; PGM1"]
["Glycogen storage disease XV; 613507; GYG1"]
["Glycogen storage disease type 0; 240600; GYS2"]
["Glycogen storage disease, type IXa1; 306000; PHKA2"]
["Glycogen storage disease, type IXa2; 306000; PHKA2"]
["Glycosylphosphatidylinositol deficiency; 610293; PIGM"]
["GM1-gangliosidosis, type I; 230500; GLB1"]
["GM1-gangliosidosis, type II; 230600; GLB1"]
["GM1-gangliosidosis, type III; 230650; GLB1"]
["GM2-gangliosidosis, AB variant; 272750; GM2A"]
["GM2-gangliosidosis, several forms; 272800; HEXA"]
["Gnathodiaphyseal dysplasia; 166260; ANO5"]
["Goldberg-Shpritzen megacolon syndrome; 609460; KIAA1279"]
["Gout, PRPS-related; 300661; PRPS1"]
["GRACILE syndrome; 603358; BCS1L"]
["Greenberg dysplasia; 215140; LBR"]
["Greig cephalopolysyndactyly syndrome; 175700; GLI3"]
["Griscelli syndrome type 1; 214450; MYO5A"]
["Griscelli syndrome type 2; 607624; RAB27A"]
["Griscelli syndrome type 3; 609227; MLPH"]
["Growth hormone deficiency with pituitary anomalies; 182230; HESX1"]
["Growth hormone deficiency, isolated, type IA; 262400; GH1"]
["Growth hormone deficiency, isolated, type IB; 612781; GH1"]
["Growth hormone deficiency, isolated, type IB; 612781; GHRHR"]
["Growth hormone deficiency, isolated, type II; 173100; GH1"]
["Growth hormone insensitivity with immunodeficiency; 245590; STAT5B"]
["Growth retardation with deafness and mental retardation due to IGF1 deficiency; 608747; IGF1"]
["Growth retardation, developmental delay, coarse facies, and early death; 612938; FTO"]
["Guttmacher syndrome; 176305; HOXA13"]
["Gyrate atrophy of choroid and retina with or without ornithinemia; 258870; OAT"]
["Haddad syndrome; 209880; ASCL1"]
["Hailey-Hailey disease; 169600; ATP2C1"]
["Haim-Munk syndrome; 245010; CTSC"]
["Hallermann-Streiff syndrome; 234100; GJA1"]
["Hand-foot-uterus Syndrome; 140000; HOXA13"]
["Harderoporphyria; 121300; CPOX"]
["HARP syndrome; 607236; PANK2"]
["Hartnup disorder; 234500; SLC6A19"]
["Hawkinsinuria; 140350; HPD"]
["Hay–Wells syndrome; 106260; TP63"]
["HDL deficiency, type 2; 604091; ABCA1"]
["Hearing loss, low-frequency sensorineural; 600965; WFS1"]
["Heart block, nonprogressive; 113900; SCN5A"]
["Heart block, progressive, type IA; 113900; SCN5A"]
["Heinz body anemia; 140700; HBA2"]
["Heinz body anemias, alpha-; 140700; HBA1"]
["Heinz body anemias, beta-; 140700; HBB"]
["HELLP syndrome, maternal, of pregnancy; 609016; HADHA"]
["Hemangioma, capillary infantile, somatic; 602089; FLT4"]
["Hemangioma, capillary infantile, somatic; 602089; KDR"]
["Hematopoiesis, cyclic; 162800; ELANE"]
["Hematuria, benign familial; 141200; COL4A3"]
["Hemiplegic migraine, familial; 141500; CACNA1A"]
["Hemochromatosis, type 2A; 602390; HJV"]
["Hemochromatosis, type 2B; 613313; HAMP"]
["Hemochromatosis, type 3; 604250; TFR2"]
["Hemochromatosis, type 4; 606069; SLC40A1"]
["Hemolytic anemia due to adenylate kinase deficiency; 612631; AK1"]
["Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; 230450; GCLC"]
["Hemolytic anemia due to glutathione synthetase deficiency; 231900; GSS"]
["Hemolytic anemia due to hexokinase deficiency; 235700; HK1"]
["Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; 613470; GPI"]
["Hemolytic uremic syndrome, atypical, susceptibility to, 1; 235400; HF1"]
["Hemophagocytic lymphohistiocytosis, familial, 2; 603553; PRF1"]
["Hemophagocytic lymphohistiocytosis, familial, 3; 608898; UNC13D"]
["Hemophagocytic lymphohistiocytosis, familial, 4; 603552; STX11"]
["Hemophilia B; 306900; F9"]
["Hemorrhagic diathesis due to \\'antithrombin\\' Pittsburgh; 613490; SERPINA1"]
["Hemosiderosis, systemic, due to aceruloplasminemia; 604290; CP"]
["Hennekam lymphangiectasia-lymphedema syndrome; 235510; CCBE1"]
["Hepatic adenoma; 142330; HNF1A"]
["Hepatic venoocclusive disease with immunodeficiency; 235550; SP110"]
["Hepatocellular cancer; 114550; PDGFRL"]
["Hepatocellular carcinoma; 114550; CTNNB1"]
["Hepatocellular carcinoma; 114550; TP53"]
["Hepatocellular carcinoma, childhood type; 114550; MET"]
["Hepatocellular carcinoma, somatic; 114550; AXIN1"]
["Hepatocellular carcinoma, somatic; 114550; CASP8"]
["Hepatocellular carcinoma, somatic; 114550; PIK3CA"]
["Hereditary hemorrhagic telangiectasia-1; 187300; ENG"]
["Hereditary hemorrhagic telangiectasia-2; 600376; ACVRL1"]
["Hereditary motor and sensory neuropathy VI; 601152; MFN2"]
["Hereditary motor and sensory neuropathy, type IIc; 606071; TRPV4"]
["Hermansky-Pudlak syndrome 1; 203300; HPS1"]
["Hermansky-Pudlak syndrome 2; 608233; AP3B1"]
["Hermansky-Pudlak syndrome 3; 203300; HPS3"]
["Hermansky-Pudlak syndrome 4; 203300; HPS4"]
["Hermansky-Pudlak syndrome 5; 203300; HPS5"]
["Hermansky-Pudlak syndrome 6; 203300; HPS6"]
["Hermansky-Pudlak syndrome 7; 203300; DTNBP1"]
["Hermansky-Pudlak syndrome 8; 203300; BLOC1S3"]
["Heterotaxy, visceral, 1, S-linke; 306955; ZIC3"]
["Heterotaxy, visceral, 2, autosomal; 605376; CFC1"]
["Heterotaxy, visceral, 5; 270100; NODAL"]
["Heterotopia, periventricular; 300049; FLNA"]
["Heterotopia, periventricular, ED variant; 300537; FLNA"]
["Hirschsprung disease; 142623; GDNF"]
["Hirschsprung disease; 142623; RET"]
["Hirschsprung disease, short-segment; 142623; PMX2B"]
["Histiocytoma, angiomatoid fibrous, somatic; 612160; CREB1"]
["HMG-CoA synthase-2 deficiency; 605911; HMGCS2"]
["Hodgkin lymphoma; 236000; KLHDC8B"]
["Holocarboxylase synthetase deficiency; 253270; HLCS"]
["Holoprosencephaly-2; 157170; SIX3"]
["Holoprosencephaly-3; 142945; SHH"]
["Holoprosencephaly-4; 142946; TGIF"]
["Holoprosencephaly-5; 609637; ZIC2"]
["Holoprosencephaly-7; 610828; PTCH1"]
["Holoprosencephaly-9; 610829; GLI2"]
["Holt-Oram syndrome; 142900; TBX5"]
["Homocystinuria due to MTHFR deficiency; 236250; MTHFR"]
["Homocystinuria, B6-responsive and nonresponsive types; 236200; CBS"]
["Homocystinuria, cblD type, variant 1; 277410; C2orf25"]
["Homocystinuria-megaloblastic anemia, cbl E type; 236270; MTRR"]
["Hoyeraal-Hreidarsson syndrome; 300240; DKC1"]
["HPRT-related gout; 300323; HPRT1"]
["Huntington disease; 143100; HTT"]
["Huntington disease-like 1; 603218; PRNP"]
["Huntington disease-like 2; 606438; JPH3"]
["Hutchinson–Gilford progeria syndrome; 176670; LMNA"]
["Hyalinosis, infantile systemic; 236490; ANTXR2"]
["Hydatidiform mole; 231090; NALP7"]
["Hydranencephaly with abnormal genitalia; 300215; ARX"]
["Hydrocephalus due to aqueductal stenosis; 307000; L1CAM"]
["Hydrocephalus with congenital idiopathic intestinal pseudoobstruction; 307000; L1CAM"]
["Hydrocephalus with Hirschsprung disease and cleft palate; 142623; L1CAM"]
["Hydrolethalus syndrome; 236680; HYLS1"]
["Hyperalphalipoproteinemia; 143470; CETP"]
["Hyperbilirubinemia, familial transcient neonatal; 237900; UGT1A1"]
["Hypercarotenemia and vitamin A deficiency, autosomal dominant; 115300; BCMO1"]
["Hypercholanemia, familial; 607748; BAAT"]
["Hypercholanemia, familial; 607748; EPHX1"]
["Hypercholanemia, familial; 607748; TJP2"]
["Hypercholesterolemia, due to ligand-defective apo B; 144010; APOB"]
["Hypercholesterolemia, familial; 143890; LDLR"]
["Hypercholesterolemia, familial, 3; 603776; PCSK9"]
["Hypercholesterolemia, familial, autosomal recessive; 603813; LDLRAP1"]
["Hypercholesterolemia, familial, modification of; 143890; APOA2"]
["Hyperchylomicronemia, late-onset; 144650; APOA5"]
["Hyperekplexia and epilepsy; 300607; ARHGEF9"]
["Hyperekplexia; 149400; GPHN"]
["Hyperekplexia; 149400; SLC6A5"]
["Hyperekplexia, autosomal recessive; 149400; GLRB"]
["Hypereosinophilic syndrome, idiopathic, resistant to imatinib; 607685; PDGFRA"]
["Hyperferritinemia-cataract syndrome; 600886; FTL"]
["Hyperfibrinolysis, familial, due to increased release of PLAT; 612348; PLAT"]
["Hyperglycinuria; 138500; SLC36A2"]
["Hyperglycinuria; 138500; SLC6A19"]
["Hyperglycinuria; 138500; SLC6A20"]
["Hyper-IgD syndrome; 260920; MVK"]
["Hyper-IgE recurrent infection syndrome; 147060; STAT3"]
["Hyper-IgE recurrent infection syndrome, autosomal recessive; 243700; DOCK8"]
["Hyperinsulinemic hypoglycemia, familial, 1; 256450; ABCC8"]
["Hyperinsulinemic hypoglycemia, familial, 2; 601820; KCNJ11"]
["Hyperinsulinemic hypoglycemia, familial, 3; 602485; GCK"]
["Hyperinsulinemic hypoglycemia, familial, 4; 609975; HADHSC"]
["Hyperinsulinemic hypoglycemia, familial, 5; 609968; INSR"]
["Hyperinsulinemic hypoglycemia, familial, 7; 610021; SLC16A1"]
["Hyperinsulinism-hyperammonemia syndrome; 606762; GLUD1"]
["Hyperkalemic periodic paralysis, type 2; 613345; SCN4A"]
["Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations; 116860; CCM1"]
["Hyperlipoproteinemia, type Ib; 207750; APOC2"]
["Hyperlysinemia; 238700; AASS"]
["Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; 250850; MAT1A"]
["Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; 238970; SLC25A15"]
["Hyperostosis, endosteal; 144750; LRP5"]
["Hyperoxaluria, primary, type 1; 259900; AGXT"]
["Hyperoxaluria, primary, type II; 260000; GRHPR"]
["Hyperoxaluria, primary, type III; 613616; DHDPSL"]
["Hyperparathyroidism, AD; 145000; MEN1"]
["Hyperparathyroidism, familial primary; 145000; HRPT2"]
["Hyperparathyroidism, neonatal; 239200; CASR"]
["Hyperparathyroidism-jaw tumor syndrome; 145001; HRPT2"]
["Hyperpehnylalaninemia, BH4-deficient, B; 233910; GCH1"]
["Hyperphenylalaninemia, BH4-deficient, A; 261640; PTS"]
["Hyperphenylalaninemia, BH4-deficient, C; 261630; QDPR"]
["Hyperphenylalaninemia, BH4-deficient, D; 264070; PCBD"]
["Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism; 612391; SLC29A3"]
["Hyperpigmentation, familial progressive; 145250; KITLG"]
["Hyperprolinemia, type I; 239500; PRODH"]
["Hyperprolinemia, type II; 239510; ALDH4A1"]
["Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy; 605115; NR3C2"]
["Hypertension, essential; 145500; PNMT"]
["Hypertension, essential; 145500; AGTR1"]
["Hypertension, essential; 145500; PTGIS"]
["Hyperthyroidism, familial gestational; 603373; TSHR"]
["Hyperthyroidism, nonautoimmune; 609152; TSHR"]
["Hypertrophic osteoarthropathy, primary, autosomal recessive; 259100; HPGD"]
["Hyperuricemic nephropathy, familial juvenile 1; 162000; UMOD"]
["Hyperuricemic nephropathy, familial juvenile 2; 613092; REN"]
["Hypoaldosteronism, congenital, due to CMO I deficiency; 203400; CYP11B2"]
["Hypoaldosteronism, congenital, due to CMO II deficiency; 610600; CYP11B2"]
["Hypoalphalipoproteinemia; 604091; APOA1"]
["Hypocalcemia, autosomal dominant; 146200; CASR"]
["Hypocalciuric hypercalcemia, type I; 145980; CASR"]
["Hypochondroplasia; 146000; FGFR3"]
["Hypoglycemia of infancy, leucine-sensitive; 240800; ABCC8"]
["Hypogonadism, hypogonadotropic; 146110; PROK2"]
["Hypogonadotropic hypogonadism due to GNRH deficiency; 227200; GNRH1"]
["Hypogonadotropic hypogonadism; 146110; CHD7"]
["Hypogonadotropic hypogonadism; 146110; FGFR1"]
["Hypogonadotropic hypogonadism; 146110; KISS1R"]
["Hypogonadotropic hypogonadism; 146110; NELF"]
["Hypogonadotropic hypogonadism; 146110; TAC3"]
["Hypogonadotropic hypogonadism; 146110; TACR3"]
["Hypokalemic periodic paralysis type 1; 170400; CACNA1S"]
["Hypomagnesemia 4, renal; 611718; EGF"]
["Hypomagnesemia with secondary hypocalcemia; 602014; TRPM6"]
["Hypomagnesemia, primary; 248250; CLDN16"]
["Hypomagnesemia, renal, with ocular involvement; 248190; CLDN19"]
["Hypomagnesemia-2, renal; 154020; FXYD2"]
["Hypomyelination, global cerebral; 612949; SLC25A12"]
["Hypoparathyroidism, autosomal dominant; 146200; PTH"]
["Hypoparathyroidism, autosomal recessive; 146200; PTH"]
["Hypoparathyroidism, familial isolated; 146200; GCMB"]
["Hypoparathyroidism, sensorineural deafness, and renal dysplasia; 146255; GATA3"]
["Hypoparathyroidism-retardation-dysmorphism syndrome; 241410; TBCE"]
["Hypophosphatasia, adult; 146300; ALPL"]
["Hypophosphatasia, childhood; 241510; ALPL"]
["Hypophosphatasia, infantile; 241500; ALPL"]
["Hypophosphatemia, X-linked; 307800; PHEX"]
["Hypophosphatemic rickets with hypercalciuria; 241530; SLC34A3"]
["Hypophosphatemic rickets; 300554; CLCN5"]
["Hypophosphatemic rickets, AR; 241520; DMP1"]
["Hypophosphatemic rickets, autosomal dominant; 193100; FGF23"]
["Hypophosphatemic rickets, autosomal recessive, 2; 613312; ENPP1"]
["Hypoplastic left heart syndrome; 241550; GJA1"]
["Hypoproteinemia, hypercatabolic; 241600; B2M"]
["Hypospadias 1, X-linked; 300633; AR"]
["Hypospadias 2, X-linked; 300758; MAMLD1"]
["Hypothryoidism, congenital, nongoitrous 4; 275100; TSHB"]
["Hypothyroidism, congenital nongoitrous, 5; 225250; NKX2E"]
["Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia; 218700; PAX8"]
["Hypothyroidism, congenital, nongoitrous; 275200; TSHR"]
["Hypotrichosis and recurrent skin vesicles; 613102; DSC3"]
["Hypotrichosis simplex of scalp; 146520; CDSN"]
["Hypotrichosis, congenital, with juvenile macular dystrophy; 601553; CDH3"]
["Hypotrichosis, hereditary, Marie Unna type, 1; 146550; HR"]
["Hypotrichosis, localized, autosomal recessive 2; 604379; LIPH"]
["Hypotrichosis, localized, autosomal recessive, 3; 611452; P2RY5"]
["Hypotrichosis, localized, autosomal recessive; 607903; DSG4"]
["Hypotrichosis-lymphedema-telangiectasia syndrome; 607823; SOX18"]
["Hypouricemia, renal, 2; 612076; SLC2A9"]
["Hypouricemia, renal; 220150; SLC22A12"]
["Hystrix-like ichthyosis with deafness; 602540; GJB2"]
["Ichthyosiform erythroderma, congenital; 242100; TGM1"]
["Ichthyosiform erythroderma, congenital, nonbullous, 1; 242100; ALOX12B"]
["Ichthyosiform erythroderma, congenital, nonbullous, 1; 242100; ALOXE3"]
["Ichthyosis bullosa of Siemens; 146800; KRT2"]
["Ichthyosis follicularis, atrichia, and photophobia syndrome; 308205; MBTPS2"]
["Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic; 600962; KRT1"]
["Ichthyosis prematurity syndrome; 608649; SLC27A4"]
["Ichthyosis vulgaris; 146700; FLG"]
["Ichthyosis with confetti; 609165; KRT10"]
["Ichthyosis with hypotrichosis; 610765; ST14"]
["Ichthyosis, congenital, autosomal recessive; 612281; ICHYN"]
["Ichthyosis, cyclic, with epidermolytic hyperkeratosis; 607602; KRT1"]
["Ichthyosis, cyclic, with epidermolytic hyperkeratosis; 607602; KRT10"]
["Ichthyosis, harlequin; 242500; ABCA12"]
["Ichthyosis, lamellar 2; 601277; ABCA12"]
["Ichthyosis, lamellar, 3; 604777; CYP4F22"]
["Ichthyosis, lamellar, autosomal recessive; 242300; TGM1"]
["Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; 607626; CLDN1"]
["Ichthyosis, x-linked; 308100; STS"]
["Iminoglycinuria, digenic; 242600; SLC36A2"]
["Iminoglycinuria, digenic; 242600; SLC6A19"]
["Iminoglycinuria, digenic; 242600; SLC6A20"]
["Immune dysfunction with T-cell inactivation due to calcium entry defect 1; 612782; ORAI1"]
["Immune dysfunction, with T-cell inactivation due to calcium entry defect 2; 612783; STIM1"]
["Immunodeficiency due to defect in CD3-zeta; 610163; CD247"]
["Immunodeficiency due to defect in MAPBP-interacting protein; 610798; MAPBPIP"]
["Immunodeficiency due to purine nucleoside phosphorylase deficiency; 613179; PNP"]
["Immunodeficiency with hyper IgM, type 4; 608106; UNG"]
["Immunodeficiency with hyper-IgM, type 2; 605258; AICDA"]
["Immunodeficiency with hyper-IgM, type 3; 606843; TNFRSF5"]
["Immunodeficiency, common variable, 1; 607594; ICOS"]
["Immunodeficiency, common variable, 2; 240500; TNFRSF13B"]
["Immunodeficiency, common variable, 3; 613493; CD19"]
["Immunodeficiency, common variable, 4; 613494; TNFRSF13C"]
["Immunodeficiency, common variable, 5; 613495; MS4A1"]
["Immunodeficiency, common variable, 6; 613496; CD81"]
["Immunodeficiency, hypogammaglobulinemia, and reduced B cells; 612692; CD79B"]
["Immunodeficiency, isolated; 300584; IKBKG"]
["Immunodeficiency, X-linked, with hyper-IgM; 308230; TNFSF5"]
["Immunodeficiency-centromeric instability-facial anomalies syndrome; 242860; DNMT3B"]
["Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; 304790; FOXP3"]
["Immunoglobulin A deficiency 2; 609529; TNFRSF13B"]
["Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; 167320; VCP"]
["Inclusion body myopathy, autosomal recessive; 600737; GNE"]
["Inclusion body myopathy-3; 605637; MYH2"]
["Incontinentia pigmenti, type II; 308300; IKBKG"]
["Infantile neuroaxonal dystrophy 1; 256600; PLA2G6"]
["Inflammatory bowel disease 25; 612567; CRFB4"]
["Insensitivity to pain, channelopathy-associated; 243000; SCN9A"]
["Insensitivity to pain, congenital, with anhidrosis; 256800; NTRK1"]
["Insomnia, fatal familial; 600072; PRNP"]
["Insulin resistance, severe, digenic; 604367; PPARG"]
["Insulin resistance, severe, digenic; 604367; PPP1R3A"]
["Insulin-like growth factor I, resistance to; 270450; IGF1R"]
["Interleukin 1 receptor antagonist deficiency; 612852; IL1RN"]
["Interleukin-2 receptor, alpha chain, deficiency of; 606367; IL2RA"]
["Intestinal pseudoobstruction, neuronal; 300048; FLNA"]
["Intrinsic factor deficiency; 261000; GIF"]
["Invasive pneumococcal disease, recurrent isolated, 1; 610799; IRAK4"]
["IRAK4 deficiency; 607676; IRAK4"]
["Iridogoniodysgenesis, type 1; 601631; FOXC1"]
["Iridogoniodysgenesis, type 2; 137600; PITX2"]
["Iris hypoplasia and glaucoma; 601631; FOXC1"]
["Iron-refractory iron deficiency anemia; 206200; TMPRSS6"]
["Isobutyryl-CoA dehydrogenase deficiency; 611283; ACAD8"]
["Isovaleric acidemia; 243500; IVD"]
["IVIC syndrome; 147750; SALL4"]
["Jackson–Weiss syndrome; 123150; FGFR1"]
["Jackson–Weiss syndrome; 123150; FGFR2"]
["Jalili syndrome; 217080; CNNM4"]
["Jensen syndrome; 311150; TIMM8A"]
["Jervell and Lange-Nielsen syndrome 2; 612347; KCNE1"]
["Jervell and Lange-Nielsen syndrome; 220400; KCNQ1"]
["Johanson-Blizzard syndrome; 243800; UBR1"]
["Joubert syndrome 1; 213300; INPP5E"]
["Joubert syndrome 10; 300804; OFD1"]
["Joubert syndrome 2; 608091; TMEM216"]
["Joubert syndrome 4; 609583; NPHP1"]
["Joubert syndrome 5; 610188; CEP290"]
["Joubert syndrome 6; 610688; TMEM67"]
["Joubert syndrome 7; 611560; RPGRIP1L"]
["Joubert syndrome 8; 612291; ARL13B"]
["Joubert syndrome 9; 612285; CC2D2A"]
["Joubert syndrome-3; 608629; AHI1"]
["Juvenile polyposis syndrome, infantile form; 174900; BMPR1A"]
["Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; 175050; MADH4"]
["Kallmann syndrome 2; 147950; FGFR1"]
["Kallmann syndrome 3; 244200; PROKR2"]
["Kallmann syndrome 4; 610628; PROK2"]
["Kallmann syndrome 5; 612370; CHD7"]
["Kallmann syndrome 6; 612702; FGF8"]
["Kanzaki disease; 609242; NAGA"]
["Karak syndrome; 610217; PLA2G6"]
["Kenny-Caffey syndrome-1; 244460; TBCE"]
["Keratitis; 148190; PAX6"]
["Keratitis-ichthyosis-deafness syndrome; 148210; GJB2"]
["Keratoconus; 148300; VSX1"]
["Keratoderma, palmoplantar, with deafness; 148350; GJB2"]
["Keratosis follicularis spinulosa decalvans; 308800; SAT1"]
["Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; 601952; POMP"]
["Keratosis palmoplantaris striata I; 148700; DSG1"]
["Keratosis palmoplantaris striata II; 612908; DSP"]
["Keratosis palmoplantaris striata III; 607654; KRT1"]
["Keratosis, seborrheic, somatic; 182000; PIK3CA"]
["Keutel syndrome; 245150; MGP"]
["Kindler syndrome; 173650; KIND1"]
["Kleefstra syndrome; 610253; EHMT1"]
["Klippel-Feil syndrome, autosomal dominant; 118100; GDF6"]
["Kniest dysplasia; 156550; COL2A1"]
["Knobloch syndrome, type 1; 267750; COL18A1"]
["Kowarski syndrome; 262650; GH1"]
["Krabbe disease; 245200; GALC"]
["Krabbe disease, atypical; 611722; PSAP"]
["L-2-hydroxyglutaric aciduria; 236792; L2HGDH"]
["Lactase deficiency, congenital; 223000; LCT"]
["Lactase persistance/nonpersistance; 223100; MCM6"]
["Lactic acidosis, fatal infantile; 245400; SUCLG1"]
["Lacticacidemia due to PDX1 deficiency; 245349; PDX1"]
["LADD syndrome; 149730; FGF10"]
["LADD syndrome; 149730; FGFR3"]
["Laing distal myopathy; 160500; MYH7"]
["Langer mesomelic dysplasia; 249700; SHOX"]
["Langer mesomelic dysplasia; 249700; SHOXY"]
["Laron dwarfism; 262500; GHR"]
["Larsen syndrome; 150250; FLNB"]
["Laryngoonychocutaneous syndrome; 245660; LAMA3"]
["Lathosterolosis; 607330; SC5DL"]
["LCHAD deficiency; 609016; HADHA"]
["Leber congenital amaurosis 1; 204000; GUCY2D"]
["Leber congenital amaurosis 10; 611755; CEP290"]
["Leber congenital amaurosis 12; 610612; RD3"]
["Leber congenital amaurosis 13; 612712; RDH12"]
["Leber congenital amaurosis 14; 613341; LRAT"]
["Leber congenital amaurosis 2; 204100; RPE65"]
["Leber congenital amaurosis 3; 604232; SPATA7"]
["Leber congenital amaurosis 4; 604393; AIPL1"]
["Leber congenital amaurosis 5; 604537; LCA5"]
["Left ventricular noncompaction 1, with or without congenital heart defects; 604169; DTNA"]
["Left ventricular noncompaction 3, with or without dilated cardiomyopathy; 601493; LDB3"]
["Left ventricular noncompaction 4; 613424; ACTC1"]
["Left ventricular noncompaction 5; 613426; MYH7"]
["Left ventricular noncompaction 6; 601494; TNNT2"]
["Left ventricular noncompaction, X-linked; 300183; TAZ"]
["Legius syndrome; 611431; SPRED1"]
["Leigh syndrome due to cytochrome c oxidase deficiency; 256000; COX15"]
["Leigh syndrome due to mitochondrial complex I deficiency; 256000; C8orf38"]
["Leigh syndrome due to mitochondrial complex I deficiency; 256000; NDUFA2"]
["Leigh syndrome; 256000; BCS1L"]
["Leigh syndrome; 256000; DLD"]
["Leigh syndrome; 256000; NDUFS3"]
["Leigh syndrome; 256000; NDUFS4"]
["Leigh syndrome; 256000; NDUFS7"]
["Leigh syndrome; 256000; NDUFS8"]
["Leigh syndrome; 256000; NDUFV1"]
["Leigh syndrome; 256000; SDHA"]
["Leigh syndrome, due to COX deficiency; 256000; SURF1"]
["Leigh syndrome, French-Canadian type; 220111; LRPPRC"]
["Leigh syndrome, X-linked; 308930; PDHA1"]
["Leiomyomatosis and renal cell cancer; 605839; FH"]
["Leiomyomatosis, diffuse, with Alport syndrome; 308940; COL4A6"]
["LEOPARD syndrome 2; 611554; RAF1"]
["Leopard syndrome; 151100; PTPN11"]
["Leprechaunism; 246200; INSR"]
["Leri-Weill dyschondrosteosis; 127300; SHOX"]
["Leri-Weill dyschondrosteosis; 127300; SHOXY"]
["Lesch-Nyhan syndrome; 300322; HPRT1"]
["Lethal congenital contractural syndrome 2; 607598; ERBB3"]
["Lethal congenital contractural syndrome 3; 611369; PIP5K1C"]
["Lethal congenital contracture syndrome 1; 253310; GLE1"]
["Leukemia, acute lymphocytic; 613065; BCR"]
["Leukemia, acute myelogenous; 601626; AMLCR2"]
["Leukemia, acute myelogenous; 601626; GMPS"]
["Leukemia, acute myelogenous; 601626; JAK2"]
["Leukemia, acute myeloid; 601626; MLF1"]
["Leukemia, acute myeloid; 601626; NSD1"]
["Leukemia, acute myeloid; 601626; SH3GL1"]
["Leukemia, acute myeloid; 601626; AF10"]
["Leukemia, acute myeloid; 601626; ARHGEF12"]
["Leukemia, acute myeloid; 601626; CEBPA"]
["Leukemia, acute myeloid; 601626; FLT3"]
["Leukemia, acute myeloid; 601626; KIT"]
["Leukemia, acute myeloid; 601626; LPP"]
["Leukemia, acute myeloid; 601626; NPM1"]
["Leukemia, acute myeloid; 601626; NUP214"]
["Leukemia, acute myeloid; 601626; PICALM"]
["Leukemia, acute myeloid; 601626; RUNX1"]
["Leukemia, acute myeloid; 601626; WHSC1L1"]
["Leukemia, acute myeloid, somatic; 601626; ETV6"]
["Leukemia, acute promyelocytic; 612376; RARA"]
["Leukemia, chronic myeloid; 608232; BCR"]
["Leukemia, juvenile myelomonocytic; 607785; ARHGAP26"]
["Leukemia, juvenile myelomonocytic; 607785; NF1"]
["Leukemia, juvenile myelomonocytic; 607785; PTPN11"]
["Leukemia, megakaryoblastic, of Down syndrome; 190685; GATA1"]
["Leukemia, megakaryoblastic, with or without Down syndrome; 190685; GATA1"]
["Leukocyte adhesion deficiency; 116920; ITGB2"]
["Leukocyte adhesion deficiency, type III; 612840; KIND3"]
["Leukodystrophy, adult-onset, autosomal dominant; 169500; LMNB1"]
["Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia; 612443; FA2H"]
["Leukodystrophy, hypomyelinating, 2; 608804; GJC2"]
["Leukodystrophy, hypomyelinating, 4; 612233; HSPD1"]
["Leukodystrophy, hypomyelinating, 5; 610532; FAM126A"]
["Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; 611105; DARS2"]
["Leukoencephalopathy with vanishing white matter; 603896; EIF2B1"]
["Leukoencephalopathy with vanishing white matter; 603896; EIF2B2"]
["Leukoencephalopathy with vanishing white matter; 603896; EIF2B3"]
["Leukoencephalopathy with vanishing white matter; 603896; EIF2B5"]
["Leukoencephalopathy, cystic, without megalencephaly; 612951; RNASET2"]
["Leukoencephaly with vanishing white matter; 603896; EIF2B4"]
["Leydig cell adenoma, somatic, with precocious puberty; 176410; LHCGR"]
["Leydig cell hypoplasia with hypergonadotropic hypogonadism; 238320; LHCGR"]
["Leydig cell hypoplasia with pseudohermaphroditism; 238320; LHCGR"]
["Lhermitte-Duclos syndrome; 158350; PTEN"]
["Liddle syndrome; 177200; SCNN1B"]
["Liddle syndrome; 177200; SCNN1G"]
["Li-Fraumeni syndrome; 151623; CDKN2A"]
["Li-Fraumeni syndrome; 151623; TP53"]
["Li-Fraumeni syndrome; 609265; CHEK2"]
["Li-Fraumeni-like syndrome; 151623; TP53"]
["LIG4 syndrome; 606593; LIG4"]
["Limb-mammary syndrome; 603543; TP63"]
["Lipase deficiency, combined; 246650; LMF1"]
["Lipodystrophy, congenital generalized, type 1; 608594; AGPAT2"]
["Lipodystrophy, congenital generalized, type 2; 269700; BSCL2"]
["Lipodystrophy, congenital generalized, type 3; 612526; CAV1"]
["Lipodystrophy, congenital generalized, type 4; 613327; PTRF"]
["Lipodystrophy, familial partial; 151660; LMNA"]
["Lipodystrophy, familial partial, type 3; 604367; PPARG"]
["Lipodystrophy, partial, acquired; 608709; LMNB2"]
["Lipoid adrenal hyperplasia; 201710; STAR"]
["Lipoid congenital adrenal hyperplasia; 201710; CYP11A"]
["Lipoid proteinosis; 247100; ECM1"]
["Lipoprotein glomerulopathy; 611771; APOE"]
["Lipoprotein lipase deficiency; 238600; LPL"]
["Lissencephaly 3; 611603; TUBA1A"]
["Lissencephaly syndrome, Norman-Roberts type; 257320; RELN"]
["Lissencephaly, X-linked 2; 300215; ARX"]
["Lissencephaly, X-linked; 300067; DCX"]
["Lissencephaly-1; 607432; PAFAH1B1"]
["Liver failure, acute infantile; 613070; TRMU"]
["Loeys-Dietz syndrome, type 1A; 609192; TGFBR1"]
["Loeys-Dietz syndrome, type 1B; 610168; TGFBR2"]
["Loeys-Dietz syndrome, type 2A; 608967; TGFBR1"]
["Loeys-Dietz syndrome, type 2B; 610380; TGFBR2"]
["Long QT syndrome 12; 612955; SNT1"]
["Long QT syndrome 13; 613485; KCNJ5"]
["Long QT syndrome-1; 192500; KCNQ1"]
["Long QT syndrome-10; 611819; SCN4B"]
["Long QT syndrome-11; 611820; AKAP9"]
["Long QT syndrome-3; 603830; SCN5A"]
["Long QT syndrome-4; 600919; ANK2"]
["Long QT syndrome-7; 170390; KCNJ2"]
["Long QT syndrome-9; 611818; CAV3"]
["Lowe syndrome; 309000; OCRL"]
["Lujan-Fryns syndrome; 309520; MED12"]
["Lung cancer; 211980; DLEC1"]
["Lung cancer; 211980; RASSF1"]
["Lung cancer; 211980; KRAS"]
["Lung cancer; 211980; PPP2R1B"]
["Lung cancer; 211980; SLC22A1L"]
["Lung cancer, somatic; 211980; MAP3K8"]
["Luteinizing hormone resistance, female; 238320; LHCGR"]
["Lymphangioleiomyomatosis; 606690; TSC1"]
["Lymphangioleiomyomatosis, somatic; 606690; TSC2"]
["Lymphedema, hereditary I; 153100; FLT4"]
["Lymphedema, hereditary, IC; 613480; GJC2"]
["Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; 153400; FOXC2"]
["Lymphedema-distichiasis syndrome; 153400; FOXC2"]
["Lymphoma, non-Hodgkin; 605027; PRF1"]
["Lymphoma, non-Hodgkin, somatic; 605027; RAD54L"]
["Lymphoproliferative syndrome, EBV-associated, autosomal, 1; 613011; ITK"]
["Lymphoproliferative syndrome, X-linked, 2; 300635; BIRC4"]
["Lymphoproliferative syndrome, X-linked; 308240; SH2D1A"]
["Lysinuric protein intolerance; 222700; SLC7A7"]
["Lysosomal acid phosphatase deficiency; 200950; ACP2"]
["Lysyl hydroxylase 3 deficiency; 612394; PLOD3"]
["Machado-Joseph disease; 109150; ATXN3"]
["Macrocephaly, alopecia, cutis laxa, and scoliosis; 613075; RIN2"]
["Macrocephaly/autism syndrome; 605309; PTEN"]
["Macrocytic anemia, refractory, due to 5q deletion, somatic; 153550; RPS14"]
["Macrothrombocytopenia and progressive sensorineural deafness; 600208; MYH9"]
["Macrothrombocytopenia; 300367; GATA1"]
["Macrothrombocytopenia, autosomal dominant, TUBB1-related; 613112; TUBB1"]
["Macular corneal dystrophy; 217800; CHST6"]
["Macular degeneration, age-related, 11; 611953; CST3"]
["Macular degeneration, age-related, 2; 153800; ABCA4"]
["Macular degeneration, age-related, 3; 608895; FBLN5"]
["Macular degeneration juvenile; 248200; CNGB3"]
["Macular dystrophy, autosomal dominant, chromosome 6-linked; 600110; ELOVL4"]
["Macular dystrophy, patterned; 169150; PRPH2"]
["Macular dystrophy, retinal, 2; 608051; PROM1"]
["Macular dystrophy, vitelliform; 608161; PRPH2"]
["Majeed syndrome; 609628; LPIN2"]
["Major depressive disorder 1; 608516; MDD1"]
["Major depressive disorder 2; 608516; MDD2"]
["Male infertility with large-headed, multiflagellar, polyploid spermatozoa; 243060; STK13"]
["Male infertility, nonsyndromic, autosomal recessive; 612997; CATSPER1"]
["Malonyl-CoA decarboxylase deficiency; 248360; MLYCD"]
["Mandibuloacral dysplasia with type B lipodystrophy; 608612; ZMPSTE24"]
["Mandibuloacral dysplasia; 248370; LMNA"]
["Mannosidosis, alpha-, types I and II; 248500; MAN2B1"]
["Mannosidosis, beta; 248510; MANBA"]
["Maple syrup urine disease, type Ia; 248600; BCKDHA"]
["Maple syrup urine disease, type Ib; 248600; BCKDHB"]
["Maple syrup urine disease, type II; 248600; DBT"]
["Maple syrup urine disease, type III; 248600; DLD"]
["Marfan syndrome; 154700; FBN1"]
["Marinesco-Sjogren syndrome; 248800; SIL1"]
["Maroteaux-Lamy syndrome, several forms; 253200; ARSB"]
["Marshall syndrome; 154780; COL11A1"]
["Martsolf syndrome; 212720; RAB3GAP2"]
["MASA syndrome; 303350; L1CAM"]
["MASS syndrome; 604308; FBN1"]
["Mast syndrome; 248900; ACP33"]
["Maturity-onset diabetes of the young 6; 606394; NEUROD1"]
["Maturity-onset diabetes of the young, type 10; 613370; INS"]
["Maturity-onset diabetes of the young, type 11; 613375; BLK"]
["Maturity-onset diabetes of the young, type IX; 612225; PAX4"]
["Maturity-onset diabetes of the young, type VII; 610508; KLF11"]
["Maturity-onset diabetes of the young, type VIII; 609812; CEL"]
["May-Hegglin anomaly; 155100; MYH9"]
["McArdle disease; 232600; PYGM"]
["McCune-Albright syndrome; 174800; GNAS"]
["McKusick-Kaufman syndrome; 236700; MKKS"]
["Meacham syndrome; 608978; WT1"]
["Meckel syndrome 7; 267010; NPHP3"]
["Meckel syndrome type 4; 611134; CEP290"]
["Meckel syndrome, type 1; 249000; MKS1"]
["Meckel syndrome, type 3; 607361; TMEM67"]
["Meckel syndrome, type 5; 611561; RPGRIP1L"]
["Meckel syndrome, type 6; 612284; CC2D2A"]
["Medullary cystic kidney disease 2; 603860; UMOD"]
["Medullary thyroid carcinoma; 155240; RET"]
["Medullary thyroid carcinoma, familial; 155240; NTRK1"]
["Medulloblastoma; 155255; PTCH2"]
["Medulloblastoma, desmoplastic; 155255; SUFU"]
["Meesmann corneal dystrophy; 122100; KRT12"]
["Meesmann corneal dystrophy; 122100; KRT3"]
["Megalencephalic leukoencephalopathy with subcortical cysts; 604004; MLC1"]
["Megaloblastic anemia-1, Finnish type; 261100; CUBN"]
["Megaloblastic anemia-1, Norwegian type; 261100; AMN"]
["Melanoma and neural system tumor syndrome; 155755; CDKN2A"]
["Melanoma; 609048; CDK4"]
["Melanoma, cutaneous malignant, 2; 155601; CDKN2A"]
["Meleda disease; 248300; SLURP1"]
["Melnick-Needles syndrome; 309350; FLNA"]
["Melorheostosis with osteopoikilosis; 155950; LEMD3"]
["Membranoproliferative glomerulonephritis with CFH deficiency; 609814; HF1"]
["Meningioma; 607174; MN1"]
["Meningioma, NF2-related, somatic; 607174; NF2"]
["Menkes disease; 309400; ATP7A"]
["Mental retardation and microcephaly with pontine and cerebellar hypoplasia; 300749; CASK"]
["Mental retardation in cri-du-chat syndrome; 123450; CTNND2"]
["Mental retardation syndrome, X-linked, Cabezas type; 300354; CUL4B"]
["Mental retardation syndrome, X-linked, Siderius type; 300263; PHF8"]
["Mental retardation, autosomal dominant 1; 156200; MBD5"]
["Mental retardation, autosomal dominant 3; 612580; CDH15"]
["Mental retardation, autosomal dominant 4; 612581; KIRREL3"]
["Mental retardation, autosomal dominant 5; 612621; SYNGAP"]
["Mental retardation, autosomal recessive 1; 249500; PRSS12"]
["Mental retardation, autosomal recessive 13; 613192; TRAPPC9"]
["Mental retardation, autosomal recessive 2A; 607417; CRBN"]
["Mental retardation, autosomal recessive 3; 608443; CC2D1A"]
["Mental retardation, autosomal recessive 7; 611093; TUSC3"]
["Mental retardation, autosomal recessive, 6; 611092; GRIK2"]
["Mental retardation, FRA12A type; 136630; DIP2B"]
["Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities; 612652; PYCS"]
["Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; 613443; MEF2C"]
["Mental retardation, truncal obesity, retinal dystrophy, and micropenis; 610156; INPP5E"]
["Mental retardation, X-linked 1; 309530; IQSEC2"]
["Mental retardation, X-linked 17/31, microduplication; 300705; HSD17B10"]
["Mental retardation, X-linked 30; 300558; PAK3"]
["Mental retardation, X-linked 36/43/54; 300419; ARX"]
["Mental retardation, X-linked 45; 300498; ZNF81"]
["Mental retardation, X-linked 58; 300210; TM4SF2"]
["Mental retardation, X-linked 59; 300630; AP1S2"]
["Mental retardation, X-linked 93; 300659; BRWD3"]
["Mental retardation, X-linked 94; 300699; GRIA3"]
["Mental retardation, X-linked 95; 300716; MAGT1"]
["Mental retardation, X-linked nonspecific; 309541; GDI1"]
["Mental retardation, X-linked nonspecific, 63; 300387; ACSL4"]
["Mental retardation, X-linked nonspecific, type 46; 300436; ARHGEF6"]
["Mental retardation, X-linked syndromic 10; 300220; HSD17B10"]
["Mental retardation, X-linked syndromic, Christianson type; 300243; SLC9A6"]
["Mental retardation, X-linked syndromic, Turner type; 300706; HUWE1"]
["Mental retardation, X-linked, 21/34; 300143; IL1RAPL1"]
["Mental retardation, X-linked; 300495; NLGN4"]
["Mental retardation, X-linked, FRAXE type; 309548; AFF2"]
["Mental retardation, X-linked, Lubs type; 300260; MECP2"]
["Mental retardation, X-linked, Snyder-Robinson type; 309583; SMS"]
["Mental retardation, X-linked, syndromic 13; 300055; MECP2"]
["Mental retardation, X-linked, syndromic 14; 300676; UPF3B"]
["Mental retardation, X-linked, syndromic, JARID1C-related; 300534; KDM5C"]
["Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance; 300486; OPHN1"]
["Mental retardation, X-linked, with epilepsy; 300423; ATP6AP2"]
["Mental retardation, X-linked, with isolated growth hormone deficiency; 300123; SOX3"]
["Mental retardation, X-linked, with or without epilepsy; 300802; SYP"]
["Mental retardation, X-linked, ZDHHC9-related; 300799; ZDHHC9"]
["Mental retardation, X-linked-72; 300271; RAB39B"]
["Mental retardation, X-linked-9; 309549; FTSJ1"]
["Mental retardation, X-linked-91; 300577; ZDHHC15"]
["Mental retardation-hypotonic facies syndrome, X-linked, 2; 300639; CUL4B"]
["Mental retardation-hypotonic facies syndrome, X-linked; 309580; ATRX"]
["Mephenytoin poor metabolizer; 609535; CYP2C"]
["Metachondromatosis; 156250; PTPN11"]
["Metachromatic leukodystrophy due to SAP-b deficiency; 249900; PSAP"]
["Metachromatic leukodystrophy; 250100; ARSA"]
["Metaphyseal anadysplasia 1; 602111; MMP13"]
["Metaphyseal anadysplasia 2; 613073; MMP9"]
["Metaphyseal chondrodysplasia, Murk Jansen type; 156400; PTHR1"]
["Metaphyseal dysplasia without hypotrichosis; 250460; RMRP"]
["Metatropic dysplasia; 156530; TRPV4"]
["Methemoglobinemia, type I; 250800; CYB5R3"]
["Methemoglobinemia, type II; 250800; CYB5R3"]
["Methemoglobinemia, type IV; 250790; CYB5A"]
["Methionine adenosyltransferase deficiency, autosomal recessive; 250850; MAT1A"]
["Methylcobalamin deficiency, cblG type; 250940; MTR"]
["Methylmalonic aciduria and homocystinuria, cblC type; 277400; MMACHC"]
["Methylmalonic aciduria and homocystinuria, cblD type; 277410; C2orf25"]
["Methylmalonic aciduria and homocystinuria, cblF type; 277380; LMBRD1"]
["Methylmalonic aciduria due to transcobalamin receptor defect; 613646; CD320"]
["Methylmalonic aciduria, cblD type, variant 2; 277410; C2orf25"]
["Methylmalonic aciduria, vitamin B12-responsive; 251100; MMAA"]
["Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; 251110; MMAB"]
["Methylmalonyl-CoA epimerase deficiency; 251120; MCEE"]
["Mevalonic aciduria; 610377; MVK"]
["MHC class II deficiency, complementation group B; 209920; RFXANK"]
["Micochondrial phosphate carrier deficiency; 610773; SLC25A3"]
["Microcephalic osteodysplastic primordial dwarfism type II; 210720; PCNT"]
["Microcephaly and digital abnormalities with normal intelligence; 602585; MYCN"]
["Microcephaly, Amish type; 607196; SLC25A19"]
["Microcephaly, autosomal recessive 1; 251200; MCPH1"]
["Microcephaly, primary autosomal recessive, 2; 251200; MCPH2"]
["Microcephaly, primary autosomal recessive, 3; 604804; CDK5RAP2"]
["Microcephaly, primary autosomal recessive, 4; 251200; MCPH4"]
["Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern; 608716; ASPM"]
["Microcephaly, primary autosomal recessive, 6; 608393; CEMPJ"]
["Microcephaly, primary autosomal recessive, 7; 612703; STIL"]
["Microcephaly, seizures, and developmental delaty; 613402; PNKP"]
["Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma; 193220; BEST1"]
["Microphthalmia, isolated 2; 610093; CHX10"]
["Microphthalmia, isolated 3; 611038; RAX"]
["Microphthalmia, isolated 4; 613094; GDF6"]
["Microphthalmia, isolated 5; 611040; MFRP"]
["Microphthalmia, isolated, with cataract 2; 212550; SIX6"]
["Microphthalmia, isolated, with cataract 4; 610426; CRYBA4"]
["Microphthalmia, isolated, with coloboma 3; 610092; CHX10"]
["Microphthalmia, isolated, with coloboma 5; 611638; SHH"]
["Microphthalmia, syndromic 2; 300166; BCOR"]
["Microphthalmia, syndromic 3; 206900; SOX2"]
["Microphthalmia, syndromic 5; 610125; OTX2"]
["Microphthalmia, syndromic 6; 607932; BMP4"]
["Microphthalmia, syndromic 7; 309801; HCCS"]
["Microphthalmia, syndromic 9; 601186; STRA6"]
["Microtia, hearing impairment, and cleft palate; 612290; HOXA2"]
["Microvillus inclusion disease; 251850; MYO5B"]
["Migraine, familial basilar; 602481; ATP1A2"]
["Migraine, familial hemiplegic, 2; 602481; ATP1A2"]
["Migraine, familial hemiplegic, 3; 609634; SCN1A"]
["Migraine, resistance to; 157300; EDNRA"]
["Miller syndrome; 264750; DHODH"]
["Minicore myopathy with external ophthalmoplegia; 255320; RYR1"]
["Mirror movements, congenital; 157600; DCC"]
["Mirror-image polydactyly; 135750; MIPOL1"]
["Mismatch repair cancer syndrome; 276300; MLH1"]
["Mismatch repair cancer syndrome; 276300; MSH2"]
["Mismatch repair cancer syndrome; 276300; MSH6"]
["Mismatch repair cancer syndrome; 276300; PMS2"]
["Mitochondrial complex 1 deficiency; 252010; C20orf7"]
["Mitochondrial complex I deficiency; 252010; NDUFA1"]
["Mitochondrial complex I deficiency; 252010; NDUFA11"]
["Mitochondrial complex I deficiency; 252010; NDUFAF2"]
["Mitochondrial complex I deficiency; 252010; NDUFAF3"]
["Mitochondrial complex I deficiency; 252010; NDUFAF4"]
["Mitochondrial complex I deficiency; 252010; NDUFS1"]
["Mitochondrial complex I deficiency; 252010; NDUFS2"]
["Mitochondrial complex I deficiency; 252010; NDUFS4"]
["Mitochondrial complex I deficiency; 252010; NDUFV1"]
["Mitochondrial complex I deficiency; 252010; NDUFV2"]
["Mitochondrial complex II deficiency; 252011; SDHAF1"]
["Mitochondrial complex III deficiency; 124000; BCS1L"]
["Mitochondrial complex III deficiency; 124000; UQCRB"]
["Mitochondrial complex III deficiency; 124000; UQCRQ"]
["Mitochondrial complex IV deficiency; 220110; FASTKD2"]
["Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria; 612073; SUCLA2"]
["Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; 612075; RRM2B"]
["Mitochondrial DNA depletion syndrome, hepatocerebral form; 251880; C10orf2"]
["Mitochondrial DNA depletion syndrome, hepatocerebral form; 251880; MPV17"]
["Mitochondrial DNA depletion syndrome, myopathic form; 609560; TK2"]
["Mitochondrial DNA-depletion syndrome, hepatocerebral form; 251880; DGUOK"]
["Mitochondrial myopathy and sideroblastic anemia; 600462; PUS1"]
["Mitochondrial neurogastrointestinal encephalomyopathy syndrome; 603041; TYMP"]
["Mitochondrial respiratory chain complex II deficiency; 252011; SDHA"]
["Miyoshi muscular dystrophy 3; 613319; ANO5"]
["Miyoshi myopathy; 254130; DYSF"]
["MNGIE without leukoencephalopathy; 603041; POLG"]
["MODY, type I; 125850; HNF4A"]
["MODY, type II; 125851; GCK"]
["MODY, type III; 600496; HNF1A"]
["MODY, type IV; 606392; IPF1"]
["Mohr-Tranebjaerg syndrome; 304700; TIMM8A"]
["Molybdenum cofactor deficiency, type A; 252150; MOCS1"]
["Molybdenum cofactor deficiency, type B; 252150; MOCS2"]
["Molybdenum cofactor deficiency, type C; 252150; GPHN"]
["Monilethrix; 158000; KRT81"]
["Monilethrix; 158000; KRT83"]
["Monilethrix; 158000; KRT86"]
["Mononeuropathy of the median nerve, mild; 613353; SH3TC2"]
["Morning glory disc anomaly; 120430; PAX6"]
["Morquio syndrome B; 253010; GLB1"]
["Mosaic variegated aneuploidy syndrome; 257300; BUB1B"]
["Mowat-Wilson syndrome; 235730; ZEB2"]
["Muckle–Wells syndrome; 191900; NLRP3"]
["Mucolipidosis II alpha/beta; 252500; GNPTAB"]
["Mucolipidosis III alpha/beta; 252600; GNPTAB"]
["Mucolipidosis III gamma; 252605; GNPTAG"]
["Mucolipidosis IV; 252650; MCOLN1"]
["Mucopolysaccharidosis Ih; 607014; IDUA"]
["Mucopolysaccharidosis Ih/s; 607015; IDUA"]
["Mucopolysaccharidosis Is; 607016; IDUA"]
["Mucopolysaccharidosis IVA; 253000; GALNS"]
["Mucopolysaccharidosis type IIID; 252940; GNS"]
["Mucopolysaccharidosis type IX; 601492; HYAL1"]
["Mucopolysaccharidosis VII; 253220; GUSB"]
["Muenke syndrome; 602849; FGFR3"]
["Muir-Torre syndrome; 158320; MLH1"]
["Muir-Torre syndrome; 158320; MSH2"]
["Mulibrey nanism; 253250; TRIM37"]
["Mullerian aplasia and hyperandrogenism; 158330; WNT4"]
["Multiple cutaneous and uterine leiomyomata; 150800; FH"]
["Multiple endocrine neoplasia IIA; 171400; RET"]
["Multiple endocrine neoplasia IIB; 162300; RET"]
["Multiple endocrine neoplasia, type IV; 610755; CDKN1B"]
["Multiple pterygium syndrome, lethal type; 253290; CHRNA1"]
["Multiple pterygium syndrome, lethal type; 253290; CHRND"]
["Multiple pterygium syndrome, lethal type; 253290; CHRNG"]
["Multiple sulfatase deficiency; 272200; SUMF1"]
["Multiple synostoses syndrome 3; 612961; FGF9"]
["Muscle glycogenosis; 300559; PHKA1"]
["Muscular dystrophy with epidermolysis bullosa simplex; 226670; PLEC1"]
["Muscular dystrophy, congenital merosin-deficient; 607855; LAMA2"]
["Muscular dystrophy, congenital, due to ITGA7 deficiency; 613204; ITGA7"]
["Muscular dystrophy, congenital, due to partial LAMA2 deficiency; 607855; LAMA2"]
["Muscular dystrophy, limb-girdle, type 1A; 159000; TTID"]
["Muscular dystrophy, limb-girdle, type 1B; 159001; LMNA"]
["Muscular dystrophy, limb-girdle, type 2A; 253600; CAPN3"]
["Muscular dystrophy, limb-girdle, type 2B; 253601; DYSF"]
["Muscular dystrophy, limb-girdle, type 2C; 253700; SGCG"]
["Muscular dystrophy, limb-girdle, type 2D; 608099; SGCA"]
["Muscular dystrophy, limb-girdle, type 2E; 604286; SGCB"]
["Muscular dystrophy, limb-girdle, type 2F; 601287; SGCD"]
["Muscular dystrophy, limb-girdle, type 2G; 601954; TCAP"]
["Muscular dystrophy, limb-girdle, type 2H; 254110; TRIM32"]
["Muscular dystrophy, limb-girdle, type 2J; 608807; TTN"]
["Muscular dystrophy, limb-girdle, type 2L; 611307; ANO5"]
["Muscular dystrophy, limb-girdle, type IC; 607801; CAV3"]
["Muscular dystrophy, rigid spine, 1; 602771; SEPN1"]
["Myasthenia, limb-girdle, familial; 254300; AGRN"]
["Myasthenia, limb-girdle, familial; 254300; DOK7"]
["Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; CHRNB1"]
["Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; CHRNE"]
["Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; MUSK"]
["Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; 608931; RAPSN"]
["Myasthenic syndrome, congenital, associated with episodic apnea; 254210; CHAT"]
["Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency; 608931; RAPSN"]
["Myasthenic syndrome, fast-channel congenital; 608930; CHRNA1"]
["Myasthenic syndrome, fast-channel congenital; 608930; CHRND"]
["Myasthenic syndrome, fast-channel congenital; 608930; CHRNE"]
["Myasthenic syndrome, slow-channel congenital; 601462; CHRNA1"]
["Myasthenic syndrome, slow-channel congenital; 601462; CHRNB1"]
["Myasthenic syndrome, slow-channel congenital; 601462; CHRND"]
["Myasthenic syndrome, slow-channel congenital; 601462; CHRNE"]
["Mycobacterial infection, atypical, familial disseminated; 209950; IFNGR1"]
["Mycobacterial infection, atypical, familial disseminated; 209950; STAT1"]
["Myelofibrosis, idiopathic; 254450; JAK2"]
["Myeloperoxidase deficiency; 254600; MPO"]
["Myeloproliferative disorder with eosinophilia; 131440; PDGFRB"]
["Myoclonic epilepsy, severe, of infancy; 607208; GABRG2"]
["Myoglobinuria, acute recurrent, autosomal recessive; 268200; LPIN1"]
["Myokymia with neonatal epilepsy; 606437; KCNQ2"]
["Myopathy due to CPT II deficiency; 255110; CPT2"]
["Myopathy with lactic acidosis, hereditary; 255125; ISCU"]
["Myopathy, actin, congenital, with excess of thin myofilaments; 161800; ACTA1"]
["Myopathy, cardioskeletal, desmin-related, with cataract; 608810; CRYAB"]
["Myopathy, centronuclear; 160150; DNM2"]
["Myopathy, centronuclear; 160150; MYF6"]
["Myopathy, centronuclear, autosomal recessive; 255200; BIN1"]
["Myopathy, congenital, Compton-North; 612540; CNTN1"]
["Myopathy, congenital, with fiber-type disproportion 1; 255310; ACTA1"]
["Myopathy, desmin-related, cardioskeletal; 601419; DES"]
["Myopathy, distal 2; 606070; MATR3"]
["Myopathy, distal, with anterior tibial onset; 606768; DYSF"]
["Myopathy, early-onset, with fatal cardiomyopathy; 611705; TTN"]
["Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; 613076; GFER"]
["Myopathy, myofibrillar, BAG3-related; 612954; BAG3"]
["Myopathy, myofibrillar, filamin C-related; 609524; FLNC"]
["Myopathy, myofibrillar, ZASP-related; 609452; LDB3"]
["Myopathy, myosin storage; 608358; MYH7"]
["Myopathy, nemaline, 3; 161800; ACTA1"]
["Myopathy, proximal, with early respiratory muscle involvement; 603689; TTN"]
["Myopathy, reducing body, X-linked, childhood-onset; 300718; FHL1"]
["Myopathy, reducing body, X-linked, severe early-onset; 300717; FHL1"]
["Myopathy, spheroid body; 182920; TTID"]
["Myopathy, X-linked, with postural muscle atrophy; 300696; FHL1"]
["Myosclerosis, congenital; 255600; COL6A2"]
["Myotilinopathy; 609200; TTID"]
["Myotonia congenita, atypical, acetazolamide-responsive; 608390; SCN4A"]
["Myotonia congenita, dominant; 160800; CLCN1"]
["Myotonia congenita, recessive; 255700; CLCN1"]
["Myotonic dystrophy; 160900; DMPK"]
["Myotonic dystrophy, type 2; 602668; ZNF9"]
["Myotubular myopathy, X-linked; 310400; MTM1"]
["Myxoid liposarcoma; 613488; DDIT3"]
["Myxoma, intracardiac; 255960; PRKAR1A"]
["N syndrome; 310465; POLA"]
["N-acetylglutamate synthase deficiency; 237310; NAGS"]
["Naegeli-Franceschetti-Jadassohn syndrome; 161000; KRT14"]
["Nail-patella syndrome; 161200; LMX1B"]
["Nance-Horan syndrome; 302350; NHS"]
["Narcolepsy 1; 161400; HCRT"]
["Nasopharyngeal carcinoma; 607107; TP53"]
["Nasu-Hakola disease; 221770; TREM2"]
["Nasu-Hakola disease; 221770; TYROBP"]
["Naxos disease; 601214; JUP"]
["Nemaline myopathy 1, autosomal dominant; 609284; TPM3"]
["Nemaline myopathy 2, autosomal recessive; 256030; NEB"]
["Nemaline myopathy 7; 610687; CFL2"]
["Nemaline myopathy; 609285; TPM2"]
["Nemaline Myopathy, Amish Type; 605355; TNNT1"]
["Nephrogenic syndrome of inappropriate antidiuresis; 300539; AVPR2"]
["Nephrolithiasis, type I; 310468; CLCN5"]
["Nephrolithiasis/osteoporosis, hypophosphatemic, 1; 612286; SLC34A1"]
["Nephrolithiasis/osteoporosis, hypophosphatemic, 2; 612287; SLC9A3R1"]
["Nephronophthisis 1, juvenile; 256100; NPHP1"]
["Nephronophthisis 2, infantile; 602088; INVS"]
["Nephronophthisis 3; 604387; NPHP3"]
["Nephronophthisis 4; 606966; NPHP4"]
["Nephronophthisis 7; 611498; GLIS2"]
["Nephropathy with pretibial epidermolysis bullosa and deafness; 609057; CD151"]
["Nephrosis, congenital, with or without ocular abnormalities; 609049; LAMB2"]
["Nephrotic syndrome, type 1; 256300; NPHS1"]
["Nephrotic syndrome, type 2; 600995; PDCN"]
["Nephrotic syndrome, type 3; 610725; PLCE1"]
["Nephrotic syndrome, type 4; 256370; WT1"]
["Netherton syndrome; 256500; SPINK5"]
["Neural tube defects; 182940; VANGL1"]
["Neuroblastoma; 256700; NME1"]
["Neurodegeneration due to cerebral folate transport deficiency; 613068; FOLR1"]
["Neurodegeneration with brain iron accumulation 1; 234200; PANK2"]
["Neurodegeneration with brain iron accumulation 2B; 610217; PLA2G6"]
["Neurodegeneration with brain iron accumulation 3; 606159; FTL"]
["Neuroepithelioma; 612219; EWSR1"]
["Neurofibromatosis, familial spinal; 162210; NF1"]
["Neurofibromatosis type 1; 162200; NF1"]
["Neurofibromatosis type 2; 101000; NF2"]
["Neurofibromatosis-Noonan syndrome; 601321; NF1"]
["Neuromuscular disease, congenital, with uniform type 1 fiber; 117000; RYR1"]
["Neuronopathy, distal hereditary motor, type IIC; 613376; HSPB3"]
["Neuronopathy, distal hereditary motor, type VI; 604320; IGHMBP2"]
["Neuropathy, congenital hypomyelinating, 1; 605253; EGR2"]
["Neuropathy, congenital hypomyelinating; 605253; MPZ"]
["Neuropathy, distal hereditary motor, type IIA; 158590; HSPB8"]
["Neuropathy, distal hereditary motor, type IIB; 608634; HSPB1"]
["Neuropathy, distal hereditary motor, type V; 600794; BSCL2"]
["Neuropathy, distal hereditary motor, type V; 600794; GARS"]
["Neuropathy, distal hereditary motor, type VIIB; 607641; DCTN1"]
["Neuropathy, hereditary sensory and autonomic, type 1; 162400; SPTLC1"]
["Neuropathy, hereditary sensory and autonomic, type II; 201300; WNK1"]
["Neuropathy, hereditary sensory and autonomic, type IIB; 613115; FAM134B"]
["Neuropathy, hereditary sensory and autonomic, type V; 608654; NGFB"]
["Neuropathy, hereditary sensory, with spastic paraplegia; 256840; CCT5"]
["Neuropathy, hereditary sensory/autonomic, type IC; 613640; SPTLC2"]
["Neuropathy, recurrent, with pressure palsies; 162500; PMP22"]
["Neutral lipid storage disease with myopathy; 610717; PNPLA2"]
["Neutropenia, nonimmune chronic idiopathic, of adults; 607847; GFI1"]
["Neutropenia, severe congenital, autosomal dominant 1; 202700; ELANE"]
["Neutropenia, severe congenital, autosomal dominant 2; 613107; GFI1"]
["Neutropenia, severe congenital, autosomal recessive 3; 610738; HAX1"]
["Neutropenia, severe congenital, autosomal recessive 4; 612541; G6PC3"]
["Neutropenia, severe congenital, X-linked; 300299; WAS"]
["Neutrophil immunodeficiency syndrome; 608203; RAC2"]
["Neutrophilia, hereditary; 162830; CSF3R"]
["Nevo syndrome; 601451; PLOD"]
["Nevus, epidermal; 162900; PIK3CA"]
["Nevus, epidermal, epidermolytic hyperkeratotic type; 600648; KRT10"]
["Nevus, keratinocytic, nonepidermolytic; 162900; FGFR3"]
["Newfoundland rod-cone dystrophy; 607476; RLBP1"]
["Niemann-Pick disease, type A; 257200; SMPD1"]
["Niemann-Pick disease, type B; 607616; SMPD1"]
["Niemann-Pick disease, type C1; 257220; NPC1"]
["Niemann-pick disease, type C2; 607625; NPC2"]
["Niemann-Pick disease type D; 257220; NPC1"]
["Night blindness, congenital stationary, autosomal dominant 2; 163500; PDE6B"]
["Night blindness, congenital stationary, autosomal dominant 3; 610444; GNAT1"]
["Night blindness, congenital stationary, type 1; 310500; CSNB1"]
["Night blindness, congenital stationary, type 1B; 257270; GRM6"]
["Night blindness, congenital stationary, type 2B; 610427; CABP4"]
["Night blindness, congenital stationary, type IC; 613216; TRPM1"]
["Night blindness, congenital stationary, X-linked, type 2A; 300071; CACNA1F"]
["Night blindness, congenital stationery, autosomal dominant 1; 610445; RHO"]
["Nijmegen breakage syndrome; 251260; NBS1"]
["Nijmegen breakage syndrome-like disorder; 613078; RAD50"]
["Nonaka Myopathy; 605820; GNE"]
["Non-Hodgkin lymphoma, somatic; 605027; CASP10"]
["Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in; 211980; EGFR"]
["Nonsmall cell lung cancer, somatic; 211980; IRF1"]
["Nonsmall cell lung cancer, somatic; 211980; PIK3CA"]
["Noonan syndrome 1; 163950; PTPN11"]
["Noonan syndrome 3; 609942; KRAS"]
["Noonan syndrome 4; 610733; SOS1"]
["Noonan syndrome 5; 611553; RAF1"]
["Noonan syndrome 6; 613224; NRAS"]
["Noonan-like syndrome with loose anagen hair; 607721; SHOC2"]
["Norrie disease; 310600; NDP"]
["Norum disease; 245900; LCAT"]
["Nystagmus 1, congenital, X-linked; 310700; FRMD7"]
["Nystagmus 6, congenital, X-linked; 300814; GPR143"]
["Obesity with impaired prohormone processing; 600955; PCSK1"]
["Obesity, adrenal insufficiency, and red hair due to POMC deficiency; 609734; POMC"]
["Obesity, autosomal dominant; 601665; MC4R"]
["Obesity, mild, early-onset; 601665; NR0B2"]
["Obesity, severe; 601665; PPARG"]
["Obesity, severe; 601665; SIM1"]
["Occipital horn syndrome; 304150; ATP7A"]
["Ocular albinism, type I, Nettleship-Falls type; 300500; GPR143"]
["Oculoauricular syndrome; 612109; HMX1"]
["Oculocutaneous albinism, type IV; 606574; SLC45A2"]
["Oculodentodigital dysplasia; 164200; GJA1"]
["Oculodentodigital dysplasia, autosomal recessive; 257850; GJA1"]
["Oculopharyngeal muscular dystrophy; 164300; PABPN1"]
["Odontohypophosphatasia; 146300; ALPL"]
["Odontoonychodermal dysplasia; 257980; WNT10A"]
["Ogden Syndrome; 300855; NAA10"]
["Oguchi disease-1; 258100; SAG"]
["Oguchi disease-2; 613411; GRK1"]
["OI type II; 166210; COL1A1"]
["OI type III; 259420; COL1A1"]
["OI type IV; 166220; COL1A1"]
["Oligodontia-colorectal cancer syndrome; 608615; AXIN2"]
["Omenn syndrome; 603554; DCLRE1C"]
["Omenn syndrome; 603554; RAG1"]
["Omenn syndrome; 603554; RAG2"]
["Omodysplasia 1; 258315; GPC6"]
["Opitz G syndrome, type I; 300000; MID1"]
["Opitz-Kaveggia syndrome; 305450; MED12"]
["Opremazole poor metabolizer; 609535; CYP2C"]
["Optic atrophy 1; 165500; OPA1"]
["Optic atrophy and cataract; 165300; OPA3"]
["Optic atrophy and deafness; 125250; OPA1"]
["Optic atrophy-7; 612989; TMEM126A"]
["Optic nerve coloboma with renal disease; 120330; PAX2"]
["Optic nerve hypoplasia and abnormalities of the central nervous system; 206900; SOX2"]
["Optic nerve hypoplasia; 165550; PAX6"]
["Oral-facial-digital syndrome 1; 311200; OFD1"]
["Ornithine transcarbamylase deficiency; 311250; OTC"]
["Orofacial cleft 11; 600625; BMP4"]
["Orofacial cleft 5; 608874; MSX1"]
["Orofacial cleft 6; 608864; IRF6"]
["Orofacial cleft 7; 225060; HVEC"]
["Orofacial cleft 8; 129400; TP63"]
["Orthostatic intolerance; 604715; SLC6A2"]
["Osseous heteroplasia, progressive; 166350; GNAS"]
["Ossification of posterior longitudinal ligament of spine; 602475; ENPP1"]
["Osteoarthritis with mild chondrodysplasia; 604864; COL2A1"]
["Osteochondritis dissecans, short stature, and early-onset osteoarthritis; 165800; ACAN"]
["Osteogenesis imperfecta, type I; 166200; COL1A1"]
["Osteogenesis imperfecta, type II; 166210; COL1A2"]
["Osteogenesis imperfecta, type IIB; 610854; CRTAP"]
["Osteogenesis imperfecta, type III; 259420; COL1A2"]
["Osteogenesis imperfecta, type IV; 166220; COL1A2"]
["Osteogenesis imperfecta, type IX; 259440; PPIB"]
["Osteogenesis imperfecta, type VI; 610698; FKBP10"]
["Osteogenesis imperfecta, type VII; 610682; CRTAP"]
["Osteogenesis imperfecta, type VIII; 610915; LEPRE1"]
["Osteoglophonic dysplasia; 166250; FGFR1"]
["Osteolysis, familial expansile; 174810; TNFRSF11A"]
["Osteopathia striata with cranial sclerosis; 300373; FAM123B"]
["Osteopetrosis, AD type I; 607634; LRP5"]
["Osteopetrosis, autosomal dominant 2; 166600; CLCN7"]
["Osteopetrosis, autosomal recessive 2; 259710; TNFSF11"]
["Osteopetrosis, autosomal recessive 3, with renal tubular acidosis; 259730; CA2"]
["Osteopetrosis, autosomal recessive 4; 611490; CLCN7"]
["Osteopetrosis, autosomal recessive 5; 259720; OSTM1"]
["Osteopetrosis, autosomal recessive 6; 611497; PLEKHM1"]
["Osteopetrosis, autosomal recessive 7; 612301; TNFRSF11A"]
["Osteopetrosis, recessive 1; 259700; TCIRG1"]
["Osteopoikilosis; 166700; LEMD3"]
["Osteoporosis, involutional; 166710; VDR"]
["Osteoporosis-pseudoglioma syndrome; 259770; LRP5"]
["Osteosarcoma; 259500; LOH18CR1"]
["Osteosarcoma; 259500; RB1"]
["Osteosarcoma; 259500; TP53"]
["Osteosarcoma, somatic; 259500; CHEK2"]
["Osteosclerosis; 144750; LRP5"]
["Otofaciocervical syndrome; 166780; EYA1"]
["Otopalatodigital syndrome, type I; 311300; FLNA"]
["Otopalatodigital syndrome, type II; 304120; FLNA"]
["Otospondylomegaepiphyseal dysplasia; 215150; COL11A2"]
["Ovarian cancer; 167000; CTNNB1"]
["Ovarian cancer, somatic; 604370; AKT1"]
["Ovarian cancer, somatic; 604370; PIK3CA"]
["Ovarian dysgenesis 1; 233300; FSHR"]
["Ovarian dysgenesis 2; 300510; BMP15"]
["Ovarian hyperstimulation syndrome; 608115; FSHR"]
["Ovarian response to FSH stimulation; 276400; FSHR"]
["Ovarioleukodystrophy; 603896; EIF2B2"]
["Ovarioleukodystrophy; 603896; EIF2B4"]
["Ovarioleukodystrophy; 603896; EIF2B5"]
["Pachyonychia congenita Jackson Lawler type; 167210; KRT17"]
["Pachyonychia congenita Jackson Lawler type; 167210; KRT6B"]
["Pachyonychia congenita, Jadassohn-Lewandowsky type; 167200; KRT16"]
["Pachyonychia congenita, Jadassohn-Lewandowsky type; 167200; KRT6A"]
["Paget disease of bone; 602080; PDB4"]
["Paget disease of bone; 602080; SQSTM1"]
["Paget disease of bone; 602080; TNFRSF11A"]
["Paget disease, juvenile; 239000; TNFRSF11B"]
["Pallister-Hall syndrome; 146510; GLI3"]
["Palmoplantar hyperkeratosis and true hermaphroditism; 610644; RSPO1"]
["Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; 610644; RSPO1"]
["Palmoplantar keratoderma, nonepidermolytic; 600962; KRT16"]
["Palmoplantar keratoderma, nonepidermolytic, focal; 613000; KRT16"]
["Palmoplantar verrucous nevus, unilateral; 144200; KRT16"]
["Pancreatic agenesis; 260370; IPF1"]
["Pancreatic cancer; 260350; TP53"]
["Pancreatic cancer; 613347; BRCA2"]
["Pancreatic cancer/melanoma syndrome; 606719; CDKN2A"]
["Pancreatic carcinoma, somatic; 260350; KRAS"]
["Pancreatitis, hereditary; 167800; PRSS1"]
["Pancreatitis, hereditary; 167800; SPINK1"]
["Panhypopituitarism, X-linked; 312000; SOX3"]
["Papillon-Lefevre syndrome; 245000; CTSC"]
["Paraganglioma and gastric stromal sarcoma; 606864; SDHB"]
["Paraganglioma and gastric stromal sarcoma; 606864; SDHC"]
["Paraganglioma and gastric stromal sarcoma; 606864; SDHD"]
["Paraganglioma, familial chromaffin, 4; 115310; SDHB"]
["Paragangliomas 2; 601650; SDHAF2"]
["Paragangliomas, familial nonchromaffin, 1, with or without deafness; 168000; SDHD"]
["Paragangliomas, familial nonchromaffin, 3; 605373; SDHC"]
["Paramyotonia congenita; 168300; SCN4A"]
["Parathyroid adenoma with cystic changes; 145001; HRPT2"]
["Parathyroid carcinoma; 608266; HRPT2"]
["Parietal foramina 1; 168500; MSX2"]
["Parietal foramina 2; 609597; ALX4"]
["Parietal foramina with cleidocranial dysplasia; 168550; MSX2"]
["Parkes Weber slndrome; 608355; RASA1"]
["Parkinson disease 11; 607688; GIGYF2"]
["Parkinson disease 13; 610297; HTRA2"]
["Parkinson disease 15, autosomal recessive; 260300; FBXO7"]
["Parkinson disease 4; 605543; SNCA"]
["Parkinson disease 6, early onset; 605909; PINK1"]
["Parkinson disease 7, autosomal recessive early-onset; 606324; DJ1"]
["Parkinson disease 9; 606693; ATP13A2"]
["Parkinson disease, juvenile, type 2; 600116; PRKN"]
["Parkinson disease-8; 607060; LRRK2"]
["Parkinsonism-dystonia, infantile; 613135; SLC6A3"]
["Paroxysmal extreme pain disorder; 167400; SCN9A"]
["Paroxysmal nocturnal hemoglobinuria, somatic; 300818; PIGA"]
["Paroxysmal nonkinesigenic dyskinesia; 118800; MR1"]
["Partington syndrome; 309510; ARX"]
["PCWH syndrome; 609136; SOX10"]
["Peeling skin syndrome, acral type; 609796; TGM5"]
["Pelger-Huet anomaly; 169400; LBR"]
["Pelizaeus-Merzbacher disease; 312080; PLP1"]
["Pendred syndrome; 274600; SLC26A4"]
["Pentosuria; 260800; DCXR"]
["Periodic fever, familial; 142680; TNFRSF1A"]
["Periodontitis, juvenile; 170650; CTSC"]
["Periventricular heterotopia with microcephaly; 608097; ARFGEF2"]
["Peroxisomal acyl-CoA oxidase deficiency; 264470; ACOX1"]
["Perry syndrome; 168605; DCTN1"]
["Persistent Mullerian duct syndrome, type I; 261550; AMH"]
["Persistent Mullerian duct syndrome, type II; 261550; AMHR2"]
["Persistent truncus arteriosus; 217095; NKX2-6"]
["Peters anomaly; 604229; CYP1B1"]
["Peters anomaly; 604229; PAX6"]
["Peters anomaly; 604229; PITX2"]
["Peters-plus syndrome; 261540; B3GALTL; B3GTL"]
["Peutz-Jeghers syndrome; 175200; STK11"]
["Pfeiffer syndrome; 101600; FGFR1"]
["Pfeiffer syndrome; 101600; FGFR2"]
["Phenylketonuria; 261600; PAH"]
["Pheochromocytoma; 171300; KIF1B"]
["Pheochromocytoma; 171300; RET"]
["Pheochromocytoma; 171300; SDHB"]
["Pheochromocytoma; 171300; SDHD"]
["Pheochromocytoma; 171300; VHL"]
["Phosphoglycerate dehydrogenase deficiency; 601815; PHGDH"]
["Phosphoglycerate kinase 1 deficiency; 300653; PGK1"]
["Phosphoribosylpyrophosphate synthetase superactivity; 300661; PRPS1"]
["Phosphorylase kinase deficiency of liver and muscle, autosomal recessive; 261750; PHKB"]
["Phosphoserine aminotransferase deficiency; 610992; PSAT1"]
["Pick disease; 172700; MAPT"]
["Pick disease; 172700; PSEN1"]
["Piebaldism; 172800; SNAI2"]
["Pierson syndrome; 609049; LAMB2"]
["Pigmented adrenocortical disease, primary, 1; 610489; PRKAR1A"]
["Pigmented nodular adrenocortical disease, primary, 2; 610475; PDE11A"]
["Pigmented paravenous chorioretinal atrophy; 172870; CRB1"]
["Pilomatricoma; 132600; CTNNB1"]
["Pitt-Hopkins like syndrome 1; 610042; CNTNAP2"]
["Pitt-Hopkins syndrome; 610954; TCF4"]
["Pituitary adenoma, ACTH-secreting; 219090; AIP"]
["Pituitary adenoma, growth hormone-secreting; 102200; AIP"]
["Pituitary adenoma, prolactin-secreting; 600634; AIP"]
["Pituitary hormone deficiency, combined, 1; 613038; POU1F1"]
["Pituitary hormone deficiency, combined, 2; 262600; PROP1"]
["Pituitary hormone deficiency, combined, 3; 221750; LHX3"]
["Pituitary hormone deficiency, combined, 4; 262700; LHX4"]
["Pituitary hormone deficiency, combined, 5; 182230; HESX1"]
["Plamoplantar keratoderma, epidermolytic; 144200; KRT1"]
["Plasminogen activator inhibitor, type I; 613329; PAI1"]
["Platelet disorder, familial, with associated myeloid malignancy; 601399; RUNX1"]
["Platelet glycoprotein IV deficiency; 608404; CD36"]
["Pleuropulmonary blastoma; 601200; DICER1"]
["Pneumothorax, primary spontaneous; 173600; FLCN"]
["Poikiloderma with neutropenia; 604173; C16orf57"]
["Polycystic kidney and hepatic disease; 263200; FCYT"]
["Polycystic kidney disease 2; 613095; PKD2"]
["Polycystic kidney disease, adult type I; 173900; PKD1"]
["Polycystic liver disease; 174050; PRKCSH"]
["Polycystic liver disease; 174050; SEC63"]
["Polycystic ovary syndrome; 184700; FST"]
["Polycythemia vera; 263300; JAK2"]
["Polycythemia, benign familial; 263400; VHL"]
["Polydactyly, postaxial, types A1 and B; 174200; GLI3"]
["Polydactyly, preaxial type II; 174500; LMBR1"]
["Polydactyly, preaxial, type IV; 174700; GLI3"]
["Polyhydramnios, megalencephaly, and symptomatic epilepsy; 611087; STRADA"]
["Polymicrogyria with optic nerve hypoplasia; 613180; TUBA8"]
["Polymicrogyria, asymmetric; 610031; TUBB2B"]
["Polymicrogyria, bilateral frontoparietal; 606854; GPR56"]
["Polyposis syndrome, hereditary mixed, 2; 610069; BMPR1A"]
["Polyposis, juvenile intestinal; 174900; BMPR1A"]
["Polyposis, juvenile intestinal; 174900; MADH4"]
["Pontocerebellar hypoplasia type 1; 607596; VRK1"]
["Pontocerebellar hypoplasia type 2A; 277470; TSEN54"]
["Pontocerebellar hypoplasia type 2B; 612389; TSEN2"]
["Pontocerebellar hypoplasia type 2C; 612390; TSEN34"]
["Pontocerebellar hypoplasia type 4; 225753; TSEN54"]
["Pontocerebellar hypoplasia, type 6; 611523; RARS2"]
["Popliteal pterygium syndrome; 119500; IRF6"]
["POR deficiency; 201750; POR"]
["Porencephaly; 175780; COL4A1"]
["Porokeratosis, disseminated superficial actinic, 1; 175900; SART3"]
["Porphyria cutanea tarda; 176100; UROD"]
["Porphyria variegata; 176200; PPOX"]
["Porphyria, acute hepatic; 612740; ALAD"]
["Porphyria, acute intermittent; 176000; HMBS"]
["Porphyria, acute intermittent, nonerythroid variant; 176000; HMBS"]
["Porphyria, congenital erythropoietic; 263700; UROS"]
["Porphyria, hepatoerythropoietic; 176100; UROD"]
["Prader-Willi syndrome; 176270; NDN"]
["Prader-Willi syndrome; 176270; SNRPN"]
["Precocious puberty, central; 176400; KISS1R"]
["Precocious puberty, male; 176410; LHCGR"]
["Premature chromosome condensation with microcephaly and mental retardation; 606858; MCPH1"]
["Premature ovarian failure 2B; 300604; FLJ22792"]
["Premature ovarian failure 3; 608996; FOXL2"]
["Premature ovarian failure 4; 300510; BMP15"]
["Premature ovarian failure 5; 611548; NOBOX"]
["Premature ovarian failure 6; 612310; FIGLA"]
["Premature ovarian failure 7; 612964; NR5A1"]
["Premature ovarian failure; 300511; DIAPH2"]
["Primary lateral sclerosis, juvenile; 606353; ALS2"]
["Prion disease with protracted course; 606688; PRNP"]
["Progesterone resistance; 264080; PGR"]
["Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; 609283; SLC25A4"]
["Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; 609286; C10orf2"]
["Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; 610131; POLG2"]
["Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5; 613077; RRM2B"]
["Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadism; 157640; POLG"]
["Progressive external ophthalmoplegia, autosomal recessive; 258450; POLG"]
["Progressive familial heart block, type IB; 604559; TRPM4"]
["Proguanil poor metabolizer; 609535; CYP2C"]
["Prolidase deficiency; 170100; PEPD"]
["Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome; 225790; FLVCR2"]
["Properdin deficiency, X-linked; 312060; PFC"]
["Propionicacidemia; 606054; PCCA"]
["Propionicacidemia; 606054; PCCB"]
["Prostate cancer 1, 176807; 601518; RNASEL"]
["Prostate cancer; 176807; BRCA2"]
["Prostate cancer, hereditary; 176807; MSR1"]
["Prostate cancer, progression and metastasis of; 603688; EPHB2"]
["Prostate cancer, somatic; 176807; KLF6"]
["Prostate cancer, somatic; 176807; MAD1L1"]
["Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; 308990; CLCN5"]
["Protoporphyria, erythropoietic, autosomal dominant; 177000; FECH"]
["Protoporphyria, erythropoietic, autosomal recessive; 177000; FECH"]
["Protoporphyria, erythropoietic, X-linked dominant; 300752; ALAS2"]
["Proud syndrome; 300004; ARX"]
["Pseudoachondroplasia; 177170; COMP"]
["Pseudohermaphroditism, male, with gynecomastia; 264300; HSD17B3"]
["Pseudohyperkalemia, familial; 177720; PIEZO1"]
["Pseudohypoaldosteronism type I, autosomal dominant; 177735; NR3C2"]
["Pseudohypoaldosteronism type II; 145260; WNK4"]
["Pseudohypoaldosteronism, type I; 264350; SCNN1A"]
["Pseudohypoaldosteronism, type I; 264350; SCNN1B"]
["Pseudohypoaldosteronism, type I; 264350; SCNN1G"]
["Pseudohypoaldosteronism, type IIC; 145260; WNK1"]
["Pseudohypoparathyroidism Ia; 103580; GNAS"]
["Pseudohypoparathyroidism Ib; 603233; GNAS"]
["Pseudohypoparathyroidism Ic; 612462; GNAS"]
["Pseudohypoparathyroidism, type IB; 603233; GNASAS"]
["Pseudohypoparathyroidism, type IB; 603233; STX16"]
["Pseudovaginal perineoscrotal hypospadias; 264600; SRD5A2"]
["Pseudoxanthoma elasticum; 264800; ABCC6"]
["Pseudoxanthoma elasticum, forme fruste; 177850; ABCC6"]
["Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; 610842; GGCX"]
["Ptosis, congenital; 178300; ZFHX4"]
["Pulmonary alveolar microlithiasis; 265100; SLC34A2"]
["Pulmonary alveolar proteinosis; 300770; CSF2RA"]
["Pulmonary fibrosis, idiopathic; 178500; SFTPA2"]
["Pulmonary hypertension, familial primary; 178600; BMPR2"]
["Pulmonary hypertension, primary; 178600; MADH9"]
["Pulmonary hypertension, primary, fenfluramine-associated; 178600; BMPR2"]
["Pulmonary veno occlusive disease; 265450; BMPR2"]
["Pycnodysostosis; 265800; CTSK"]
["Pyogenic bacterial infections, recurrent, due to MYD88 deficiency; 612260; MYD88"]
["Pyogenic sterile arthritis, pyoderma gangrenosum, and acne; 604416; PSTPIP1"]
["Pyridoxamine 5'-phosphate oxidase deficiency; 610090; PNPO"]
["Pyropoikilocytosis; 266140; SPTA1"]
["Pyruvate carboxylase deficiency; 266150; PC"]
["Pyruvate dehydrogenase deficiency; 312170; PDHA1"]
["Pyruvate dehydrogenase E2 deficiency; 245348; DLAT"]
["Pyruvate dehydrogenase phosphatase deficiency; 608782; PDP1"]
["Pyruvate kinase deficiency; 266200; PKLR"]
["Rabson-Mendenhall syndrome; 262190; INSR"]
["Radioulnar synostosis with amegakaryocytic thrombocytopenia; 605432; HOXA11"]
["Raine syndrome; 259775; FAM20C"]
["RAPADILINO syndrome; 266280; RECQL4"]
["Rapp-Hodgkin syndrome; 129400; TP63"]
["Recombination rate QTL 1; 612042; RNF212"]
["Refsum disease; 266500; PEX7"]
["Refsum disease; 266500; PHYH"]
["Refsum disease, infantile form; 266510; PEX26"]
["Refsum disease, infantile form; 266510; PXMP3"]
["Refsum disease, infantile; 266510; PEX1"]
["Renal adysplasia; 191830; UPK3A"]
["Renal agenesis; 191830; RET"]
["Renal carcinoma, chromophobe, somatic; 144700; FLCN"]
["Renal cell carcinoma; 144700; DIRC2"]
["Renal cell carcinoma; 144700; HNF1A"]
["Renal cell carcinoma; 144700; RNF139"]
["Renal cell carcinoma, clear cell, somatic; 144700; OGG1"]
["Renal cell carcinoma, papillary, 1; 605074; PRCC"]
["Renal cell carcinoma, papillary, 1; 605074; TFE3"]
["Renal cell carcinoma, papillary, familial and sporadic; 605074; MET"]
["Renal cell carcinoma, somatic; 144700; VHL"]
["Renal cysts and diabetes syndrome; 137920; HNF1B"]
["Renal glucosuria; 233100; SLC5A2"]
["Renal tubular acidosis with deafness; 267300; ATP6B1"]
["Renal tubular acidosis, distal, AD; 179800; SLC4A1"]
["Renal tubular acidosis, distal, AR; 611590; SLC4A1"]
["Renal tubular acidosis, distal, autosomal recessive; 602722; ATP6V0A4"]
["Renal tubular acidosis, proximal, with ocular abnormalities; 604278; SLC4A4"]
["Renal tubular dysgenesis; 267430; ACE"]
["Renal tubular dysgenesis; 267430; AGT"]
["Renal tubular dysgenesis; 267430; AGTR1"]
["Renal tubular dysgenesis; 267430; REN"]
["Renal-hepatic-pancreatic dysplasia; 208540; NPHP3"]
["Renpenning syndrome; 309500; PQBP1"]
["Restrictive dermopathy, lethal; 275210; ZMPSTE24"]
["Reticular dysgenesis; 267500; AK2"]
["Retinal cone dystrophy 3; 610024; PDE6H"]
["Retinal cone dystrophy 3B; 610356; KCNV2"]
["Retinal cone dystrophy 4; 610478; CACNA2D4"]
["Retinal degeneration, late-onset, autosomal dominant; 605670; C1QTNF5"]
["Retinal dystrophy, early-onset severe; 248200; ABCA4"]
["Retinal dystrophy, early-onset severe; 613341; LRAT"]
["Retinitis pigmentosa 33; 610359; SNRNP200"]
["Retinitis pigmentosa 51; 613464; TTC8"]
["Retinitis pigmentosa 54; 613428; C2orf71"]
["Retinitis pigmentosa 55; 613575; ARL6"]
["Retinitis pigmentosa 58; 613617; ZNF513"]
["Retinitis pigmentosa, concentric; 613194; BEST1"]
["Retinitis pigmentosa, digenic; 608133; PRPH2"]
["Retinitis pigmentosa, juvenile; 613341; LRAT"]
["Retinitis pigmentosa, juvenile, autosomal recessive; 268000; SPATA7"]
["Retinitis pigmentosa, late-onset dominant; 268000; CRX"]
["Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; 300455; RPGR"]
["Retinitis pigmentosa-1; 180100; RP1"]
["Retinitis pigmentosa-10; 180105; IMPDH1"]
["Retinitis pigmentosa-11; 600138; PRPF31"]
["Retinitis pigmentosa-12, autosomal recessive; 600105; CRB1"]
["Retinitis pigmentosa-13; 600059; PRPF8"]
["Retinitis pigmentosa-14; 600132; TULP1"]
["Retinitis pigmentosa-17; 600852; CA4"]
["Retinitis pigmentosa-18; 601414; HPRP3"]
["Retinitis pigmentosa-19; 601718; ABCA4"]
["Retinitis pigmentosa-2; 312600; RP2"]
["Retinitis pigmentosa-25; 602772; EYS"]
["Retinitis pigmentosa-26; 608380; CERKL"]
["Retinitis pigmentosa-3; 300029; RPGR"]
["Retinitis pigmentosa-30; 607921; FSCN2"]
["Retinitis pigmentosa-31; 609923; TOPORS"]
["Retinitis pigmentosa-35; 610282; SEMA4A"]
["Retinitis pigmentosa-36; 610599; PRCD"]
["Retinitis pigmentosa-37; 611131; NR2E3"]
["Retinitis pigmentosa-38; 268000; MERTK"]
["Retinitis pigmentosa-39; 268000; USH2A"]
["Retinitis pigmentosa-41; 612095; PROM1"]
["Retinitis pigmentosa-42; 612943; KLHL7"]
["Retinitis pigmentosa-45; 268000; CNGB1"]
["Retinitis pigmentosa-50; 613194; BEST1"]
["Retinitis pigmentosa-7; 608133; PRPH2"]
["Retinitis pigmentosa-9; 180104; RP9"]
["Retinitis punctata albescens; 136880; PRPH2"]
["Retinitis punctata albescens; 136880; RLBP1"]
["Retinopathy of prematurity; 133780; FZD4"]
["Rett syndrome; 312750; MECP2"]
["Rett syndrome, congenital variant; 613454; FOXG1B"]
["Rett syndrome, preserved speech variant; 312750; MECP2"]
["Revesz syndrome; 268130; TINF2"]
["Reynolds syndrome; 613471; LBR"]
["Rhabdoid predisposition syndrome 1; 609322; SMARCB1"]
["Rhabdoid tumor predisposition syndrome 2; 613325; SMARCA4"]
["Rhabdomyosarcoma 2, alveolar; 268220; PAX3"]
["Rhabdomyosarcoma 2, alveolar; 268220; PAX7"]
["Rhabdomyosarcoma; 268210; SLC22A1L"]
["Rhabdomyosarcoma, alveolar; 268220; FOXO1A"]
["Rhizomelic chondrodysplasia punctata type 1; 215100; PEX7"]
["Rhizomelic chondrodysplasia punctata type 3; 600121; AGPS"]
["Ribose-5-phosphate isomerase deficiency; 608611; RPIA"]
["Rickets due to defect in vitamin D 25-hydroxylation; 600081; CYP2R1"]
["Rickets, vitamin D-resistant, type IIA; 277440; VDR"]
["RIDDLE syndrome; 611943; RNF168"]
["Rieger or Axenfeld anomalies; 602482; FOXC1"]
["Ring dermoid of cornea; 180550; PITX2"]
["Rippling muscle disease; 606072; CAV3"]
["Rippling muscle disease-1; 606072; RMD1"]
["Roberts syndrome; 268300; ESCO2"]
["Robinow syndrome, autosomal recessive; 268310; ROR2"]
["Rolandic epilepsy, mental retardation, and speech dyspraxia; 300643; SRPX2"]
["Rothmund-Thomson syndrome; 268400; RECQL4"]
["Roussy-Levy syndrome; 180800; MPZ"]
["Roussy-Levy syndrome; 180800; PMP22"]
["Rubenstein-Taybi syndrome; 180849; CREBBP"]
["Rubinstein-Taybi syndrome; 180849; EP300"]
["Saccharopinuria; 268700; AASS"]
["Saethre-Chotzen syndrome with eyelid anomalies; 101400; TWIST1"]
["Saethre-Chotzen syndrome; 101400; FGFR2"]
["Saethre-Chotzen syndrome; 101400; TWIST1"]
["Salla disease; 604369; SLC17A5"]
["Sandhoff disease, infantile, juvenile, and adult forms; 268800; HEXB"]
["Sanfilippo syndrome, type A; 252900; SGSH"]
["Sanfilippo syndrome, type B; 252920; NAGLU"]
["Sanfilippo syndrome, type C; 252930; HGSNAT"]
["Sarcoidosis, early-onset; 609464; NOD2"]
["SC phocomelia syndrome; 269000; ESCO2"]
["Scapuloperoneal myopathy, X-linked dominant; 300695; FHL1"]
["Scapuloperoneal spinal muscular atrophy; 181405; TRPV4"]
["Scapuloperoneal syndrome, myopathic type; 181430; MYH7"]
["Scapuloperoneal syndrome, neurogenic, Kaeser type; 181400; DES"]
["Schimke immunoosseous dysplasia; 242900; SMARCAL1"]
["Schindler disease, type I; 609241; NAGA"]
["Schindler disease, type III; 609241; NAGA"]
["Schinzel-Giedion midface retraction syndrome; 269150; SETBP1"]
["Schizencephaly; 269160; EMX2"]
["Schizophrenia; 181500; DISC2"]
["Schneckenbecken dysplasia; 269250; SLC35D1"]
["Schöpf–Schulz–Passarge syndrome; 224750; WNT10A"]
["Schwannomatosis; 162091; NF2"]
["Schwartz-Jampel syndrome, type 1; 255800; HSPG2"]
["Sclerosteosis; 269500; SOST"]
["Sea-blue histiocyte disease; 269600; APOE"]
["Sebastian syndrome; 605249; MYH9"]
["Seborrhea-like dermatitis with psoriasiform elements; 610227; ZNF750"]
["Seckel syndrome 1; 210600; ATR"]
["SED congenita; 183900; COL2A1"]
["Segawa syndrome, recessive; 605407; TH"]
["Self-healing collodion baby; 242300; TGM1"]
["SEMD, Pakistani type; 612847; PAPSS2"]
["Senior-Loken syndrome 4; 606996; NPHP4"]
["Senior-Loken syndrome 5; 609254; IQCB1"]
["Senior-Loken syndrome 6; 610189; CEP290"]
["Senior-Loken syndrome-1; 266900; NPHP1"]
["Sensorineural deafness with mild renal dysfunction; 602522; BSND"]
["Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; 607459; POLG"]
["Septo-optic dysplasia; 182230; HESX1"]
["SERKAL syndrome; 611812; WNT4"]
["Sertoli-cell-only syndrome; 400042; ZNF148"]
["SESAME syndrome; 612780; KCNJ10"]
["Severe combined immunodeficiency due to ADA deficiency; 102700; ADA"]
["Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; 611291; NHEJ1"]
["Severe combined immunodeficiency, Athabascan type; 602450; DCLRE1C"]
["Severe combined immunodeficiency, B cell-negative; 601457; RAG1"]
["Severe combined immunodeficiency, B cell-negative; 601457; RAG2"]
["Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; CD3D"]
["Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; CD3E"]
["Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; 608971; PTPRC"]
["Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type; 608971; IL7R"]
["Severe combined immunodeficiency, X-linked; 300400; IL2RG"]
["Short QT syndrome-1; 609620; KCNH2"]
["Short QT syndrome-2; 609621; KCNQ1"]
["Short QT syndrome-3; 609622; KCNJ2"]
["Short rib-polydactyly syndrome, type III; 263510; DYNC2H1"]
["Short stature; 604271; GHSR"]
["Short stature, idiopathic familial; 300582; SHOX"]
["Short stature, idiopathic familial; 300582; SHOXY"]
["Short stature, idiopathic; 604271; GHR"]
["Shprintzen-Goldberg syndrome; 182212; FBN1"]
["Shwachman-Bodian-Diamond syndrome; 260400; SBDS"]
["Sialic acid storage disorder, infantile; 269920; SLC17A5"]
["Sialidosis, type I; 256550; NEU1"]
["Sialidosis, type II; 256550; NEU1"]
["Sialuria; 269921; GNE"]
["Sick sinus syndrome 1; 608567; SCN5A"]
["Sick sinus syndrome 2; 163800; HCN4"]
["Sickle cell anemia; 603903; HBB"]
["Silver spastic paraplegia syndrome; 270685; BSCL2"]
["Silver-Russell syndrome; 180860; H19"]
["Simpson-Golabi-Behmel syndrome, type 1; 312870; GPC3"]
["Simpson-Golabi-Behmel syndrome, type 2; 300209; OFD1"]
["Sitosterolemia; 210250; ABCG5"]
["Sitosterolemia; 210250; ABCG8"]
["Sjogren-Larsson syndrome; 270200; ALDH3A2"]
["Skeletal defects, genital hypoplasia, and mental retardation; 612447; ZBTB16"]
["Skin fragility-woolly hair syndrome; 607655; DSP"]
["Skin/hair/eye pigmentation 9, dark/light hair; 611742; ASIP"]
["Slowed nerve conduction velocity, AD; 608236; ARHGEF10"]
["Small patella syndrome; 147891; TBX4"]
["SMED, Strudwick type; 184250; COL2A1"]
["Smith-Lemli-Opitz syndrome; 270400; DHCR7"]
["Smith-Magenis syndrome; 182290; RAI1"]
["Smith-McCort dysplasia; 607326; DYM"]
["Snowflake vitreoretinal degeneration; 193230; KCNJ13"]
["Solitary median maxillary central incisor; 147250; SHH"]
["Somatostatin analog, resistance to; 102200; SSTR5"]
["Sorsby fundus dystrophy; 136900; TIMP3"]
["Sotos syndrome; 117550; NSD1"]
["Spastic ataxia, Charlevoix-Saguenay type; 270550; SACS"]
["Spastic paralysis, infantile onset ascending; 607225; ALS2"]
["Spastic paraplegia 10; 604187; KIF5A"]
["Spastic paraplegia 15; 270700; ZFYVE26"]
["Spastic paraplegia 31; 610250; REEP1"]
["Spastic paraplegia 33; 610244; ZFYVE27"]
["Spastic paraplegia 39; 612020; PNPLA6"]
["Spastic paraplegia, 44; 613206; GJC2"]
["Spastic paraplegia-11; 604360; SPG11"]
["Spastic paraplegia-13; 605280; HSPD1"]
["Spastic paraplegia-2; 312920; PLP1"]
["Spastic paraplegia-3A; 182600; SPG3A"]
["Spastic paraplegia-4; 182601; SPAST"]
["Spastic paraplegia-42; 612539; SLC33A1"]
["Spastic paraplegia-5A; 270800; CYP7B1"]
["Spastic paraplegia-6; 600363; NIPA1"]
["Spastic paraplegia-7; 607259; PGN"]
["Spastic paraplegia-8; 603563; KIAA0196"]
["Specific granule deficiency; 245480; CEBPE"]
["Speech-language disorder-1; 602081; FOXP2"]
["Spherocytosis, hereditary, type 5; 612690; EPB42"]
["Spherocytosis, type 1; 182900; ANK1"]
["Spherocytosis, type 3; 270970; SPTA1"]
["Spherocytosis, type 4; 612653; SLC4A1"]
["Spinal and bulbar muscular atrophy of Kennedy; 313200; AR"]
["Spinal muscular atrophy, distal, autosomal recessive, 4; 611067; PLEKHG5"]
["Spinal muscular atrophy, distal, X-linked 3; 300489; ATP7A"]
["Spinal muscular atrophy, late-onset, Finkel type; 182980; VAPB"]
["Spinal muscular atrophy, X-linked 2, infantile; 301830; UBE1"]
["Spinal muscular atrophy-1; 253300; SMN1"]
["Spinal muscular atrophy-2; 253550; SMN1"]
["Spinal muscular atrophy-3; 253400; SMN1"]
["Spinal muscular atrophy-4; 271150; SMN1"]
["Spinocerebellar ataxia 12; 604326; PPP2R2B"]
["Spinocerebellar ataxia 14; 605361; PRKCG"]
["Spinocerebellar ataxia 15; 606658; ITPR1"]
["Spinocerebellar ataxia 17; 607136; TBP"]
["Spinocerebellar ataxia 28; 610246; AFG3L2"]
["Spinocerebellar ataxia 31; 117210; BEAN"]
["Spinocerebellar ataxia 8; 608768; ATXN8OS"]
["Spinocerebellar ataxia 8; 608768; ATXN8"]
["Spinocerebellar ataxia with epilepsy; 607459; POLG"]
["Spinocerebellar ataxia, autosomal recessive 5; 606937; ZNF592"]
["Spinocerebellar ataxia, autosomal recessive 8; 610743; SYNE1"]
["Spinocerebellar ataxia, autosomal recessive 9; 612016; CABC1"]
["Spinocerebellar ataxia, autosomal recessive with axonal neuropathy; 607250; TDP1"]
["Spinocerebellar ataxia, infantile-onset; 271245; C10orf2"]
["Spinocerebellar ataxia-1; 164400; ATXN1"]
["Spinocerebellar ataxia-10; 603516; ATXN10"]
["Spinocerebellar ataxia-11; 604432; TTBK2"]
["Spinocerebellar ataxia-13; 605259; KCNC3"]
["Spinocerebellar ataxia-2; 183090; ATXN2"]
["Spinocerebellar ataxia-27; 609307; FGF14"]
["Spinocerebellar ataxia-5; 600224; SPTBN2"]
["Spinocerebellar ataxia-6; 183086; CACNA1A"]
["Spinocerebellar ataxia-7; 164500; ATXN7"]
["Split-hand/foot malformation 6; 225300; WNT10B"]
["Split-hand/foot malformation, type 4; 605289; TP63"]
["Spondylocarpotarsal synostosis syndrome; 272460; FLNB"]
["Spondylocheirodysplasia, Ehlers-Danlos syndrome-like; 612350; SLC39A13"]
["Spondylocostal dysostosis, autosomal recessive 2; 608681; MESP2"]
["Spondylocostal dysostosis, autosomal recessive 3; 609813; LFNG"]
["Spondylocostal dysostosis, autosomal recessive, 1; 277300; DLL3"]
["Spondylocostal dystostosis 4, autosomal dominant; 122600; GDF6"]
["Spondyloepimetaphyseal dysplasia; 608728; MATN3"]
["Spondyloepimetaphyseal dysplasia, aggrecan type; 612813; ACAN"]
["Spondyloepimetaphyseal dysplasia, Missouri type; 602111; MMP13"]
["Spondyloepiphyseal dysplasia tarda with progressive arthropathy; 208230; WISP3"]
["Spondyloepiphyseal dysplasia tarda; 313400; TRAPPC2"]
["Spondyloepiphyseal dysplasia with congenital joint dislocations; 143095; CHST3"]
["Spondyloepiphyseal dysplasia, Kimberley type; 608361; ACAN"]
["Spondylo-megaepiphyseal-metaphyseal dysplasia; 613330; NKX3-2"]
["Spondylometaepiphyseal dysplasia, short limb-hand type; 271665; DDR2"]
["Spondylometaphyseal dysplasia, Kozlowski type; 184252; TRPV4"]
["Spondyloperipheral dysplasia; 271700; COL2A1"]
["Squamous cell carcinoma, head and neck; 275355; ING1"]
["Squamous cell carcinoma, head and neck; 275355; TNFRSF10B"]
["Stapes ankylosis with broad thumb and toes; 184460; NOG"]
["STAR syndrome; 300707; FAM58A"]
["Stargardt disease 3; 600110; ELOVL4"]
["Stargardt disease 4; 603786; PROM1"]
["Stargardt disease-1; 248200; ABCA4"]
["Startle disease/hyperekplexia, autosomal dominant; 149400; GLRA1"]
["Steatocystoma multiplex; 184500; KRT17"]
["Stickler syndrome, type I; 108300; COL2A1"]
["Stickler syndrome, type II; 604841; COL11A1"]
["Stickler syndrome, type III; 184840; COL11A2"]
["Stiff skin syndrome; 184900; FBN1"]
["Stocco dos Santos X-linked mental retardation syndrome; 300434; SHROOM4"]
["Stomach cancer; 137215; KRAS"]
["Stomatocytosis I; 185000; EPB72"]
["Striatal degeneration, autosomal dominant; 609161; PDE8B"]
["Striatonigral degeneration, infantile; 271930; NUP62"]
["Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome; 601559; LIFR"]
["Subcortical laminal heteropia, X-linked; 300067; DCX"]
["Succinic semialdehyde dehydrogenase deficiency; 271980; ALDH5A1"]
["Succinyl-CoA:3-oxoacid CoA transferase deficiency; 245050; OXCT1"]
["Sucrase-isomaltase deficiency, congenital; 222900; SI"]
["Sudden infant death with dysgenesis of the testes syndrome; 608800; TSPYL1"]
["Sulfite oxidase deficiency; 272300; SUOX"]
["Supranuclear palsy, progressive atypical; 260540; MAPT"]
["Supranuclear palsy, progressive; 601104; MAPT"]
["Supravalvar aortic stenosis; 185500; ELN"]
["Surfactant metabolism dysfunction, pulmonary, 1; 265120; SFTPB"]
["Surfactant metabolism dysfunction, pulmonary, 2; 610913; SFTPC"]
["Surfactant metabolism dysfunction, pulmonary, 3; 610921; ABCA3"]
["Sveinsson choreoretinal atrophy; 108985; TEAD1"]
["Symphalangism, proximal; 185800; GDF5"]
["Symphalangism, proximal; 185800; NOG"]
["Syndactyly, type III; 186100; GJA1"]
["Syndactyly, type IV; 186200; LMBR1"]
["Syndactyly, type V; 186300; HOXD13"]
["Synostoses syndrome, multiple, 1; 186500; NOG"]
["Synpolydactyly with foot anomalies; 186000; HOXD13"]
["Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses; 608180; FBLN1"]
["Synpolydactyly, type II; 186000; HOXD13"]
["Tangier disease; 205400; ABCA1"]
["TARP syndrome; 311900; RBM10"]
["Tarsal-carpal coalition syndrome; 186570; NOG"]
["Tay-Sachs disease; 272800; HEXA"]
["T-cell immunodeficiency, congenital alopecia, and nail dystrophy; 601705; FOXN1"]
["Testicular microlithiasis; 610441; SLC34A2"]
["Testicular tumor, sporadic; 273300; STK11"]
["Tetra-amelia, autosomal recessive; 273395; WNT3"]
["Tetralogy of Fallot; 187500; GDF1"]
["Tetralogy of Fallot; 187500; JAG1"]
["Tetralogy of Fallot; 187500; ZFPM2"]
["Tetrology of Fallot; 187500; NKX2E"]
["Thalassemia, alpha-; 604131; HBA2"]
["Thalassemia, Hispanic gamma-delta-beta; 604131; LCRB"]
["Thalassemia-beta, dominant inclusion-body; 603902; HBB"]
["Thalassemias, alpha-; 604131; HBA1"]
["Thalassemias, beta-; 604131; HBB"]
["Thanatophoric dysplasia, type I; 187600; FGFR3"]
["Thiamine-responsive megaloblastic anemia syndrome; 249270; SLC19A2"]
["Three M syndrome 2; 612921; OBSL1"]
["Thrombocythemia, essential; 187950; JAK2"]
["Thrombocythemia, essential; 187950; MPL"]
["Thrombocythemia, essential; 187950; THPO"]
["Thrombocytopenia 4; 612004; CYCS"]
["Thrombocytopenia with beta-thalassemia, X-linked; 314050; GATA1"]
["Thrombocytopenia, congenital amegakaryocytic; 604498; MPL"]
["Thrombocytopenia, X-linked; 313900; WAS"]
["Thrombocytopenia, X-linked, intermittent; 313900; WAS"]
["Thrombocytopenia-2; 188000; FLJ14813"]
["Thrombocytopenic purpura, autoimmune; 188030; FCGR2C"]
["Thrombophilia due to elevated HRG; 613116; HRG"]
["Thrombophilia due to heparin cofactor II deficiency; 612356; HCF2"]
["Thrombophilia due to HRG deficiency; 613116; HRG"]
["Thrombophilia due to protein C deficiency, autosomal dominant; 176860; PROC"]
["Thrombophilia due to protein C deficiency, autosomal recessive; 612304; PROC"]
["Thrombophilia due to protein S deficiency; 612336; PROS1"]
["Thrombophilia, familial, due to decreased release of PLAT; 612348; PLAT"]
["Thrombophilia, X-linked, due to factor IX defect; 300807; F9"]
["Thrombosis, hyperhomocysteinemic; 236200; CBS"]
["Thrombotic thrombocytopenic purpura, familial; 274150; ADAMTS13"]
["Thryoid dyshormonogenesis 6; 607200; DUOX2"]
["Thyroid carcinoma, follicular; 188470; MINPP1"]
["Thyroid carcinoma, follicular; 188470; NRAS"]
["Thyroid carcinoma, papillary; 188550; GOLGA5"]
["Thyroid carcinoma, papillary; 188550; NCOA4"]
["Thyroid carcinoma, papillary; 188550; PCM1"]
["Thyroid carcinoma, papillary; 188550; PRKAR1A"]
["Thyroid carcinoma, papillary; 188550; TRIM24"]
["Thyroid carcinoma, papillary; 188550; TRIM33"]
["Thyroid dyshormonogenesis 1; 274400; SLC5A5"]
["Thyroid dyshormonogenesis 2A; 274500; TPO"]
["Thyroid dyshormonogenesis 3; 274700; TG"]
["Thyroid dyshormonogenesis 4; 274800; IYD"]
["Thyroid dyshormonogenesis 5; 274900; DUOXA2"]
["Thyroid hormone metabolism, abnormal; 609698; SECISBP2"]
["Thyroid hormone resistance; 188570; THRB"]
["Thyroid hormone resistance, autosomal recessive; 274300; THRB"]
["Thyroid hormone resistance, selective pituitary; 145650; THRB"]
["Thyroid papillary carcinoma; 188550; CCDC6"]
["Tibial muscular dystrophy, tardive; 600334; TTN"]
["Tietz albinism-deafness syndrome; 103500; MITF"]
["Timothy syndrome; 601005; CACNA1C"]
["Tn syndrome; 300622; C1GALT1C1"]
["Toenail dystrophy, isolated; 607523; COL7A1"]
["Tooth agenesis, selective, 1, with or without orofacial cleft; 106600; MSX1"]
["Tooth agenesis, selective, 3; 604625; PAX9"]
["Tooth agenesis, selective, 6; 613097; LTBP3"]
["Tooth agenesis, selective, X-linked 1; 313500; ED1"]
["Torg-Winchester syndrome; 259600; MMP2"]
["Tourette syndrome; 137580; SLITRK1"]
["Townes-Brocks branchiootorenal-like syndrome; 107480; SALL1"]
["Townes-Brocks syndrome; 107480; SALL1"]
["Transaldolase deficiency; 606003; TALDO1"]
["Transcobalamin II deficiency; 275350; TCN2"]
["Transient bullous of the newborn; 131705; COL7A1"]
["Transposition of the great arteries, dextro-looped 1; 608808; MED13L"]
["Treacher Collins mandibulofacial dysostosis; 154500; TCOF1"]
["Trehalase deficiency; 612119; TREH"]
["Trichodentoosseous syndrome; 190320; DLX3"]
["Trichoepithelioma, multiple familial, 1; 601606; CYLD1"]
["Trichorhinophalangeal syndrome, type I; 190350; TRPS1"]
["Trichorhinophalangeal syndrome, type III; 190351; TRPS1"]
["Trichothiodystrophy; 601675; ERCC2"]
["Trichothiodystrophy; 601675; ERCC3"]
["Trichothiodystrophy, complementation group A; 601675; GTF2H5"]
["Trichothiodystrophy, nonphotosensitive 1; 234050; C7orf11"]
["Trichotillomania; 613229; SLITRK1"]
["Trifunctional protein deficiency; 609015; HADHA"]
["Trifunctional protein deficiency; 609015; HADHB"]
["Trigonocephaly; 190440; FGFR1"]
["Trimethylaminuria; 602079; FMO3"]
["Triphalangeal thumb, type I; 174500; LMBR1"]
["Triphalangeal thumb-polysyndactyly syndrome; 174500; LMBR1"]
["Trismus-pseudocamptodactyly syndrome; 158300; MYH8"]
["Tropical calcific pancreatitis; 608189; SPINK1"]
["Troyer syndrome; 275900; SPG20"]
["Tuberous sclerosis-1; 191100; TSC1"]
["Tuberous sclerosis-2; 191100; TSC2"]
["Tumoral calcinosis, familial, normophosphatemic; 610455; SAMD9"]
["Tumoral calcinosis, hyperphosphatemic; 211900; KL"]
["Tumoral calcinosis, hyperphosphatemic, familial; 211900; FGF23"]
["Tumoral calcinosis, hyperphosphatemic, familial; 211900; GALNT3"]
["Tyrosine kinase 2 deficiency; 611521; TYK2"]
["Tyrosinemia type II; 277660; TAT"]
["Tyrosinemia type III; 276710; HPD"]
["Ullrich congenital muscular dystrophy; 254090; COL6A1"]
["Ullrich congenital muscular dystrophy; 254090; COL6A2"]
["Ullrich congenital muscular dystrophy; 254090; COL6A3"]
["Ulna and fibula, absence of, with sever limb deficiency; 276820; WNT7A"]
["Ulnar-mammary syndrome; 181450; TBX3"]
["Urocanase deficiency; 276880; UROC1"]
["Urofacial syndrome; 236730; HPSE2"]
["Usher syndrome, type 1B; 276900; MYO7A"]
["Usher syndrome, type 1C; 276904; USH1C"]
["Usher syndrome, type 1D; 601067; CDH23"]
["Usher syndrome, type 1D/F digenic; 601067; CDH23"]
["Usher syndrome, type 1D/F digenic; 601067; PCDH15"]
["Usher syndrome, type 1F; 602083; PCDH15"]
["Usher syndrome, type 1G; 606943; SANS"]
["Usher syndrome, type 2A; 276901; USH2A"]
["Usher syndrome, type 3; 276902; CLRN1"]
["Usher syndrome, type IIC; 605472; GPR98"]
["Usher syndrome, type IID; 611383; WHRN"]
["UV-sensitive syndrome; 600630; ERCC6"]
["VACTERL association; 192350; HOXD13"]
["Van Buchem disease; 239100; SOST"]
["van Buchem disease, type 2; 607636; LRP5"]
["van der Woude syndrome; 119300; IRF6"]
["Vasculopathy, retinal, with cerebral leukodystrophy; 192315; TREX1"]
["VATER association with macrocephaly and ventriculomegaly; 276950; PTEN"]
["Velocardiofacial syndrome; 192430; TBX1"]
["Venous malformations, multiple cutaneous and mucosal; 600195; TEK"]
["Ventricular fibrillation, familial, 1; 603829; SCN5A"]
["Ventricular fibrillation, paroxysmal familial, 2; 612956; DPP6"]
["Ventricular tachycardia, catecholaminergic polymorphic, 1; 604772; RYR2"]
["Ventricular tachycardia, catecholaminergic polymorphic, 2; 611938; CASQ2"]
["Ventricular tachycardia, idiopathic; 192605; GNAI2"]
["Vertical talus, congenital; 192950; HOXD10"]
["Vesicoureteral reflux 2; 610878; ROBO2"]
["Vitamin D-dependent rickets, type I; 264700; CYP27B1"]
["Vitamin K-dependent clotting factors, combined deficiency of, 2; 607473; VKORC1"]
["Vitamin K-dependent coagulation defect; 277450; GGCX"]
["Vitelliform macular dystrophy, adult-onset; 608161; BEST1"]
["Vitreoretinochoroidopathy; 193220; BEST1"]
["VLCAD deficiency; 201475; ACADVL"]
["Vohwinkel syndrome with ichthyosis; 604117; LOR"]
["Vohwinkel syndrome; 124500; GJB2"]
["von Hippel-Lindau disease, modification of; 193300; CCND1"]
["von Hippel-Lindau syndrome; 193300; VHL"]
["von Willebrand disease, autosomal dominant; 193400; VWF"]
["von Willebrand disease, autosomal recessive; 277480; VWF"]
["von Willebrand disease, platelet-type; 177820; GP1BA"]
["Waardenburg syndrome type 1; 193500; PAX3"]
["Waardenburg syndrome type 2D; 608890; SNAI2"]
["Waardenburg syndrome type 2E, with or without neurologic involvement; 611584; SOX10"]
["Waardenburg syndrome type 3; 148820; PAX3"]
["Waardenburg syndrome type 4A; 277580; EDNRB"]
["Waardenburg syndrome type 4B; 613265; EDN3"]
["Waardenburg syndrome type 4C; 613266; SOX10"]
["Waardenburg syndrome type IIA; 193510; MITF"]
["Waardenburg syndrome/albinism, digenic; 103470; TYR"]
["Waardenburg syndrome/ocular albinism, digenic; 103470; MITF"]
["Wagner syndrome 1; 143200; VCAN"]
["Warburg micro syndrome 1; 600118; RAB3GAP1"]
["Warfarin resistance; 122700; VKORC1"]
["Warfarin sensitivity; 122700; CYP2C9"]
["Warsaw breakage syndrome; 613398; DDX11"]
["Watson syndrome; 193520; NF1"]
["Weaver syndrome; 277590; NSD1"]
["Weill-Marchesani syndrome, dominant; 608328; FBN1"]
["Weill-Marchesani syndrome, recessive; 277600; ADAMTS10"]
["Weill-Marchesani-like syndrome; 613195; ADAMTS17"]
["Weissenbacher-Zweymuller syndrome; 277610; COL11A2"]
["Werner syndrome; 277700; RECQL2"]
["Weyers acrodental dysostosis; 193530; EVC"]
["WHIM syndrome; 193670; CXCR4"]
["White sponge nevus; 193900; KRT13"]
["White sponge nevus; 193900; KRT4"]
["Wilms tumor 2; 194071; H19"]
["Wilms tumor; 194070; BRCA2"]
["Wilms tumor, somatic; 194070; GPC3"]
["Wilms tumor, type 1; 194070; WT1"]
["Wilson disease; 277900; ATP7B"]
["Wiskott-Aldrich syndrome; 301000; WAS"]
["Witkop syndrome; 189500; MSX1"]
["Wolcott-Rallison syndrome; 226980; EIF2AK3"]
["Wolff-Parkinson-White syndrome; 194200; PRKAG2"]
["Wolfram syndrome 2; 604928; CISD2"]
["Wolfram syndrome; 222300; WFS1"]
["Wolfram-like syndrome, autosomal dominant; 222300; WFS1"]
["Wolman disease; 278000; LIPA"]
["Woodhouse-Sakati syndrome; 241080; C2orf37"]
["Woolly hair, autosomal dominant; 194300; KRT74"]
["Woolly hair, autosomal recessive 1; 278150; P2RY5"]
["Woolly hair, autosomal recessive 2 with or without hypotrichosis; 604379; LIPH"]
["Wrinkly skin syndrome; 278250; ATP6V0A2"]
["Xanthinuria, type I; 278300; XDH"]
["Xeroderma pigmentosum group A; 278700; XPA"]
["Xeroderma pigmentosum group B; 610651; ERCC3"]
["Xeroderma pigmentosum group C; 278720; XPC"]
["Xeroderma pigmentosum group D; 278730; ERCC2"]
["Xeroderma pigmentosum group E, DDB-negative subtype; 278740; DDB2"]
["Xeroderma pigmentosum group F; 278760; ERCC4"]
["Xeroderma pigmentosum group G; 278780; ERCC5"]
["Xeroderma pigmentosum, variant type; 278750; POLH"]
["XFE progeroid syndrome; 610965; ERCC4"]
["X-inactivation, familial skewed; 300087; XIC"]
["Zellweger syndrome; 214100; PEX10"]
["Zellweger syndrome; 214100; PEX13"]
["Zellweger syndrome; 214100; PEX14"]
["Zellweger syndrome; 214100; PEX26"]
["Zellweger syndrome; 214100; PEX5"]
["Zellweger syndrome; 214100; PXF"]
["Zellweger syndrome, complementation group G; 214100; PEX3"]
["Zellweger syndrome-1; 214100; PEX1"]