All diseases

95 entries on 1 page. Showing entries 1 - 95.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00566 - Wolcott-Rallison syndrome 226980 AR 1 1 EIF2AK3 - -
02020 - alpha-2-plasmin inhibitor deficiency 262850 AR - - SERPINF2 - -
02354 - stroke, ischemic, susceptibility to 601367 Mu 2 2 ALOX5AP, F2, F5, NOS3, PRKCH - -
02750 ADCAD1 artery, coronary, disease, autosomal dominant, type 1 (ADCAD-1) 608320 AD - - MEF2A - -
01599 ADHR rickets, hypophosphatemic, autosomal dominant (ADHR) 193100 AD 1 1 FGF23 - -
03740 AI2A4 amelogenesis imperfecta, hypomaturation type, IIA4 (AI2A4) 614832 AR - - C4orf26 - -
04435 ARCI5 Ichthyosis, congenital, autosomal recessive, type 5 (ARCI-5) 604777 AR - - CYP4F22 - -
02733 ARPHM;PVNH2 heterotopia, periventricular, autosomal recessive (ARPHM, periventricular heterotopia type 2 (PVNH-2)) 608097 AR 1 1 ARFGEF2 - autosomal recessive
01221 cancer, liver cancer, hepatocellular (HCC) 114550 - 4 4 APC, AXIN1, CASP8, CTNNB1, IGF2R, MET, PDGFRL, PIK3CA, TP53 liver -
03931 CDCBM3 dysplasia ,cortical, complex, with other brain malformations, type 3 (CDCBM-3) 615411 AD 1 - KIF2A - -
01332 CFEOM1;CFEOM3B fibrosis, extraocular muscles, congenital, type 1 135700 AD - - KIF21A - -
05349 CGD granulomatous disease, chronic - - 1322 1305 C17orf62, CYBA, CYBB, NCF1, NCF2, NCF4 - -
01832 CGD2 granulomatous disease, chronic, due to deficiency of NCF-2, type 2 233710 AR 15 - NCF2 - -
05339 CHTD disease, heart, congenital (CHTD) - - 35 33 NR2F2, SMAD2, TAB2 - -
04083 CHTD4 heart defects, congenital, multiple types, type 4 (CHTD-4) 615779 AD 2 2 NR2F2 - -
03142 CILD10 dyskinesia, ciliary, primary, 10 (CILD-10) 612518 - - - DNAAF2 - -
02518 CMT4B2 Charcot-Marie-Tooth disease, type 4B2 (CMT-4B2) 604563 AR 3 3 SBF2 - -
03652 CMTDIE Charcot-Marie-Tooth disease, dominant intermediate, type E (CMTDIE) 614455 AD - - INF2 - -
05210 COXPD29 combined oxidative phosphorylation deficiency, type 29 616811 AR - - TWF2 - -
00156 CSS Coffin-Siris syndrome (CSS) - - 285 255 ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11 - -
05794 CSS7 Coffin-Siris syndrome, type 7 (CSS7) 618027 AD - - DPF2 - -
06025 CVID14 ?Immunodeficiency, common variable, 14 617765 AD - - IRF2BP2 - -
06544 DDVIBA Developmental delay with variable intellectual impairment and behavioral abnormalities 618430 AD 3 3 TCF20 - -
06906 DEE encephalopathy, developmental and epileptic - - 269 261 ATP1A3, CELF2, DALRD3, DNM1, GAD1, GLUL, GNAO1, KCNA2, KCNH5, NEUROD2, NTRK2, TMEM63B - -
06905 DEE97 encephalopathy, developmental and epileptic, type 97 619561 AD - - CELF2 - -
03511 DKCA3 dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3) 613990 AD 18 18 TINF2 - -
05408 FAME epilepsy, myoclonic, familial adult (FAME) - - 69 68 CTNND2, MARCH6, RAPGEF2, SAMD12, STARD7, TNRC6A, YEATS2 - autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course
05590 FAME7;FMCTE7 epilepsy, myoclonic, familial adult, type 7 (FAME7, FMCTE7) 618075 AD - - RAPGEF2 - -
03289 FSGS5 glomerulosclerosis, segmental, focal, type 5 (FSGS-5) 613237 - 1 1 INF2 - -
01698 GDHS ataxia, cerebellar, and hypogonadotropic hypogonadism 212840 AR 2 2 RNF216 - -
04512 GRDF growth restriction, severe, with distinctive facies (GRDF) 616489 AD - - IGF2 - -
04472 HFTC calcinosis, tumoral, hyperphosphatemic, familial (HFTC) 211900 AR - - FGF23, GALNT3, KL - -
06183 HFTC2 Tumoral calcinosis, hyperphosphatemic, familial, 2 617993 - - - FGF23 - -
01575 HHT telangiectasia hemorrhagic, hereditary (HHT) - - 72 71 ACVRL1, ENG, GDF2 - -
03975 HHT5 telangiectasia, hemorrhagic, hereditary, type 5 (HHT5) 615506 AD - - GDF2 - autosomal dominant
06886 HR hypophosphataemic rickets - - 701 681 CLCN5, FGF23, PHEX - -
03389 HYPOPROTHROMBINEMIA deficiency, prothrombin (hypoprothrombinemia, dysprothrombinaemia) 613679 AR 51 51 F2 - -
00139 ID intellectual disability (ID) - - 2706 2388 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
06152 IDDBCS Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 618725 AD 2 2 PHF21A - -
06775 LEMSPAD ?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 618878 - - - EIF2AK1 - -
06497 LEUDEN Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 618877 - 1 1 EIF2AK2 - -
00038 LS Leigh syndrome (LS) 256000 AR;Mi 72 62 BCS1L, C17orf89, COX10, COX15, FASTKD5, FOXRED1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
00611 MC1DN mitochondrial complex I deficiency, nuclear (MC1DN) 252010 AR 31 29 ACAD9, FOXRED1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL, TIMMDC1 - -
06672 MC1DN10 Mi complex I deficiency, nuclear type 10 618233 AR - - NDUFAF2 - -
02490 MC5DN1 mitochondrial complex V (ATP synthase) deficiency, nuclear, type 1 (MC5DN-1) 604273 AR - - ATPAF2 - -
05189 MEHMO;MRXS20;MRXS25 mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity (MEHMO) 300148 XLR 4 4 EIF2S3 - -
02638 meningioma meningioma, familial, susceptibility to 607174 AD 65 65 MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU - -
00614 MRD20 mental retardation, autosomal dominant, type 20 (MRD20) 613443 AD 10 10 MEF2C - -
07155 MRD64 intellectual developmental disorder, autosomal dominant, type 64 619188 AD - - ZNF292 - -
04025 MRT40 mental retardation, autosomal recessive, type 40 (MRT-40) 615599 AR - - TAF2 - -
00040 MTDPS7 mitochondrial DNA depletion syndrome (hepatocerebral), type 7 (MTDPS-7) 271245 AR 7 7 C10orf2 - -
02636 MYMY2 moyamoya disease, type 2 (MYMY-2) 607151 - - - RNF213 - -
05611 NDD neurodevelopmental disorder (NDD) - - 3873 3688 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, 79 more - -
05778 NEDAMSS neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) 618088 AD 3 4 IRF2BPL - -
07161 NEDLBAS neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 620292 AD - - EIF2C1 - -
06018 NEDMHM ?Neurodevelopmental disorder with midbrain and hindbrain malformations 617523 AR 1 - ARHGEF2 - -
00515 NF neurofibromatosis - - 760 558 NF1, NF2 - -
01159 NF2 neurofibromatosis, type 2 (NF-2) 101000 - 138 14 NF2 - -
00151 NIDDM diabetes mellitus, type II (NIDDM) 125853 AD 8 7 ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more - -
02695 PARK11 Parkinson disease, type 11 (PARK-11) 607688 - - - GIGYF2 - -
00041 PEOA3 ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 3 (PEOA-3) 609286 AD 3 1 C10orf2 - -
02382 PGL2 paragangliomas, type 2 (PGL-2) 601650 AD - - SDHAF2 - -
06909 POF19 ovarian failure, premature, type 19 619245 AR - - HSF2BP - -
04386 PRLTS5 Perrault syndrome, type 5 (PRLTS5) 616138 AR 1 1 C10orf2 - -
01837 PVOD2 venoocclusive disease, pulmonary, type 2 (PVOD-2) 234810 AR - - EIF2AK4 - -
05876 RDMS dystrophy, retinal, with macular staphyloma 617547 AR - - C21orf2 - -
02055 Revesz Revesz syndrome 268130 AD 2 2 TINF2 - -
04061 RHDA2 hypodysplasia/aplasia, renal, type 2 (RHDA-2) 615721 AR - - FGF20 - -
03625 RPRGL pregnancy loss, recurrent, susceptibility to (RPRGL) - - 7 7 ANXA5, F2, F5 - -
03626 RPRGL2 pregnancy loss, recurrent, susceptibility to, type 2 (RPRGL-2) 614390 AD - - F2 - -
03082 RRQTL1 recombination rate quantitative trait locus 1 (RRQTL-1) 612042 - - - RNF212 - -
02843 SCA26 ataxia, spinocerebellar, type 26 (SCA-26) 609306 AD - - EEF2 - -
02457 SEMDJL2 dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-2) 603546 AD 8 7 KIF22 - -
03945 SLI language impairment, specific (SLI) - - 20 20 TM4SF20 - -
05570 SLI5 language impairment, specific, type 5 (SLI-5) 615432 AD - - TM4SF20 - autosomal dominant
05877 SMDAX dysplasia, spondylometaphyseal, axial 602271 AR - - C21orf2 - -
04182 SMDP surfactant metabolism dysfunction, pulmonary (SMDP) - - - - CSF2RA - -
04181 SMDP4 surfactant metabolism dysfunction, pulmonary, type 4 (SMDP4) 300770 - - - CSF2RA - -
03614 SMDP5 surfactant metabolism dysfunction, pulmonary, type 5 (SMDP-5) 614370 AR - - CSF2RB - -
05562 SPGF spermatogenic failure (SPGF) - - 96 94 ACRC, AURKC, C14orf39, C15orf43, CCDC62, CFAP58, DNAH1, DNAH2, DNALI1, DPY19L2, FANCM, FBXO43, GGN, IFT74, MEIOB, PDHA2, PLCZ1, PNLDC1, RNF212, RPL10L, 6 more - -
06684 SPGF43 Spermatogenic failure 43 618751 AR - - SPEF2 - -
06919 SPGF62 spermatogenic failure, type 62 619673 AR - - RNF212 - -
00232 SRS;RSS Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS)) 180860 AD 115 113 CDKN1C, HMGA2, IGF2, PLAG1 - -
05389 SWNTS Schwannomatosis (SWNTS) - - 89 88 LZTR1, NF2, SMARCB1 - -
06701 THAMY ?Thrombocytopenia, anemia, and myelofibrosis 617441 AR - - C6orf25 - -
01581 THPH1 thrombophilia,due to thrombin defect (THPH1) 188050 AD 4 4 F13A1, F2, HABP2, MTHFR - -
01405 TOC tylosis, with esophageal cancer (TOC, Howel-Evans syndrome) 148500 AD - - RHBDF2 - -
05983 TPFS Turnpenny-Fry syndrome (TPFS) 618371 AD - - PCGF2 - -
00748 TTD trichothiodystrophy (TTD) - - 19 19 ERCC2, ERCC3, GTF2H5, MPLKIP - -
04325 TTD3 trichothiodystrophy, type 3, photosentitive (TTD-3) 616395 - - - GTF2H5 - -
06781 TTD6 Trichothiodystrophy 6, nonphotosensitive 616943 AR - - GTF2E2 - -
00754 VDEGS Van den Ende-Gupta syndrome 600920 AR 1 1 SCARF2 - -
02470 VWM leukoencephalopathy with vanishing white matter (VWM) 603896 AR 59 59 EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 - autosomal recessive
02378 WT5 Wilms tumor, type 5 (WT-5) 601583 AD;SMu - - POU6F2 - -
00840 XLID109 intellectual developmental disorder, X-linked, type 109 (FRAXE type) 309548 XLR - - AFF2 - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.