WordNet

pertaining to the tiny air sacs of the lungs
pertaining to the sockets of the teeth or that part of the upper jaw; "alveolar processes"

PrepTutorEJDIC

歯茎音の(舌先を上歯茎にふれて発音する) / 肺胞の;歯槽(しそう)の / 歯茎音
肺の;肺を冒す

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/11/03 22:12:28」(JST)

wiki en

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

17,20-lyase deficiency, isolated; 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 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; DHS
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
Dicarboxylicaminoaciduria; 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-Straussler disease; 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
Huchinson-Gilford Progeria; 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
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; TGM6
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; DHS
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 venoocclusive 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
Trichodontoosseous 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

External links[edit]

http://www.ncbi.nlm.nih.gov/Omim/omimfaq.html#download

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 従来の胸部X線によるびまん性肺疾患の評価 evaluation of diffuse lung disease by conventional chest radiography
2. 肺の高分解能CT high resolution computed tomography of the lungs
3. 成人における確定診断を得られていない低血圧やショックの評価および初期アプローチ evaluation of and initial approach to the adult patient with undifferentiated hypotension and shock
4. 嚢胞性線維症：肝胆道系疾患 cystic fibrosis hepatobiliary disease
5. Cardiovascular problems in the post-anesthesia care unit (PACU)

English Journal

A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene.

Stokman L1, Nossent EJ2, Grunberg K3, Meijboom L4, Yakicier MC5, Voorhoeve E1, Houweling AC1.
Clinical case reports.Clin Case Rep.2016 Mar 11;4(4):412-5. doi: 10.1002/ccr3.532. eCollection 2016.
With around 500 cases published worldwide, pulmonary alveolar microlithiasis is a rare disorder with an autosomal recessive pattern of inheritance. We show for the first time that homozygous deletions encompassing the entire SCL34A2 can be associated with this rare genetic pulmonary disease.
PMID 27099741

A rare indication for lung transplantation - pulmonary alveolar microlithiasis: institutional experience of five consecutive cases.

Klikovits T1, Slama A1, Hoetzenecker K1, Waseda R1, Lambers C1, Murakoezy G1, Jaksch P1, Aigner C1, Taghavi S1, Klepetko W1, Lang G1,2, Hoda MA1.
Clinical transplantation.Clin Transplant.2016 Apr;30(4):429-34. doi: 10.1111/ctr.12705. Epub 2016 Feb 24.
BACKGROUND: Pulmonary alveolar microlithiasis (PAM) is a rare lung disease caused by calcifications within the alveolar space. The only known effective treatment for an end-stage PAM is lung transplantation (LuTX).METHODS: We performed a retrospective chart review of all individuals that underwent l
PMID 26841075

Pulmonary alveolar microlithiasis with finger clubbing: A case report and literature review.

Qian X1, Wu X1, Liu X1.
Experimental and therapeutic medicine.Exp Ther Med.2016 Apr;11(4):1381-1384. Epub 2016 Feb 16.
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive and slowly progressive disease. Mutations of the solute carrier family 34, member 2 gene are considered to be the cause of the disease. The present study reported the case of a 35-year-old female patient who was diagnosed with PAM
PMID 27073453