肺胞微石症 PAM
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)
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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
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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
Japanese Journal
- 谷口 留美,細井 洋平,野田 あんず [他],佐山 麗実,岡本 陽子,越野 由紀,西本 創,高見澤 勝
- 日本小児科学会雑誌 116(6), 999-1002, 2012-06-01
- NAID 10030801200
- 慢性腎不全に対して人工透析を行った肺胞微石症の1例
- 仁多 寅彦,冨島 裕,堀之内 秀仁 [他],嶋崎 久美子,瀧 史香,西村 直樹,宮澤 仁志,萩原 弘一,蝶名林 直彦
- 日本呼吸器学会誌 = Annals of the Japanese Respiratory Society 1(3), 267-272, 2012-03-10
- NAID 10030269592
Related Links
- Dr Yuranga Weerakkody et al. view revision history. Pulmonary alveolar microlithiasis (PAM) is a rare idiopathic condition characterised by widespread intra alveolar deposition of spherical calcium phosphate microliths ( calcisphericytes).
Related Pictures
![](http://msp.c.yimg.jp/image?q=tbn:ANd9GcSXNHeRPJwkizd3G-fd4ATCsLeUEjTUpW8lFtFqrq6RK0dlirVFxmGmjgCFZw:http://www.ispub.com/ispub/ijpm/volume_9_number_1_8/pulmonary_alveolar_microlithiasis_scintigraphic_features/pam-fig2.jpg)
![](http://msp.c.yimg.jp/image?q=tbn:ANd9GcRHi9G_tfhsdInW5tPwEGUZRetfwugRkUJJWCwVbn7qO49Pk338hyzJsQ:http://bjr.birjournals.org/content/vol77/issue923/images/small/BJR46682-1.gif)
![](http://msp.c.yimg.jp/image?q=tbn:ANd9GcRGs_BfEDtkYQ4GeBAnW6nj25Cvx8s2QaA3SAREB1mVOEgsVuUden51mg:http://www.scielo.br/img/revistas/jbpneu/v33n5/en_a10fig04.gif)
![](http://msp.c.yimg.jp/image?q=tbn:ANd9GcSyxa2r5qFQ6GSt0ODLt3LeScvJgLkZYES8_ANU5dfagEsU4m0wkL9Jdj4:http://www.scielo.br/img/revistas/jbpneu/v33n5/en_a10fig03.gif)
![](http://msp.c.yimg.jp/image?q=tbn:ANd9GcTnBJySpWwk7GQpUcV0_4tnSxeav_2Fb19YCPosZPF4mMY614uY21iiYA:http://www.hindawi.com/journals/crim/2010/floats/819242/thumbnails/819242.fig.001a_th.jpg)
★リンクテーブル★
[★]
- 英
- pulmonary alveolar microlithiasis, PAM
- ラ
- microlithiasis alveolaris pulmonum
- 同
- 肺結石症 肺石症 pulmolithiasis
概念
- 肺胞内に微小結石がびまん性に形成される遺伝疾患で、中高年に呼吸困難を発症
病因
遺伝形式
[★]
[★]
- 関
- alveoli、alveolus、pulmonary alveoli、pulmonary alveolus、tooth socket
[★]
- 関
- lung、pneumo
[★]
- 関
- microcalcification