All diseases

1559 entries on 16 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00284 - epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy - - 3 2 TBC1D24 - -
00285 - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - - 7 5 TBC1D24 - -
00423 - cancer, endometrial 608089 AD;SMu 226 191 CDH1, MLH3, MSH3, MSH6, PTEN - -
00511 - asthma, susceptibility to 600807 AD 1 1 ADRB2, ALOX5, CCL11, HLA-G, HNMT, IL13, MUC7, PHF11, PLA2G7, SCGB3A2, TNF - -
00536 - angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI) 105150 AD 1 1 CST3 - -
00557 - Cousin syndrome 260660 AR - - TBX15 - -
00879 - ulna and fibula, absence of, with severe limb deficiency 276820 AR - - WNT7A - -
00880 - Fuhrmann syndrome 228930 AR - - WNT7A - -
00933 - leukemia, acute, lymphoblastic - - 30 30 PTPN11 - -
01103 - Leukemia, acute promyelocytic, PL2F/RARA type - - - - ZBTB16 - -
01104 - Skeletal defects, genital hypoplasia, and mental retardation 612447 AR 2 1 ZBTB16 - -
01173 - amyloidosis, hereditary, transthyretin-related 105210 AD 613 613 TTR - -
01175 - sclerosis, lateral, amyotrophic/Parkinsonism/dementia complex 1 105500 AD - - TRPM7 - -
01242 - dementia, familial, Danish 117300 AD - - ITM2B - -
01282 - Dermatopathia pigmentosa reticularis 125595 AD - - KRT14 - -
01310 - epidermolysis bullosa, simplex, simplex, Weber-Cockayne type 131800 AD - - ITGB4, KRT14, KRT5 - -
01312 - Epidermolysis bullosa simplex, Koebner type 131900 AD - - KRT14, KRT5 - -
01438 - dysplasia, metatrophic 156530 AD 4 - TRPV4 - -
01444 - Mullerian aplasia and hyperandrogenism 158330 AD - - WNT4 - -
01490 - dwarfism, parastremmatic 168400 AD - - TRPV4 - -
01501 - periodontitis 1, juvenile 170650 AR - - CTSC - -
01522 - dementia, familial, British 176500 AD - - ITM2B - -
01562 - myopathy, spheroid body 182920 AD - - MYOT - -
01566 - dysplasia, spondyloepiphyseal, Maroteaux type 184095 AD - - TRPV4 - -
01568 - Steatocystoma multiplex 184500 AD - - KRT17 - -
01643 - aciduria, alpha-methylacetoacetic 203750 AR 2 2 ACAT1 - -
01670 - asthma, nasal polyps, and aspirin intolerance 208550 AR - - PTGER2, TBX21 - -
01673 - atransferrinemia 209300 AR 3 3 TF - -
01675 - SCID due to absent class II HLA antigens 209920 AR - - CIITA, RFX5, RFXANK, RFXAP - -
01735 - cystathioninuria 219500 AR - - CTH - -
01736 - Cystinosis, ocular nonnephropathic 219750 - - - CTNS - -
01738 - cystinosis, late-onset juvenile or adolescent nephropathic 219900 - 2 1 CTNS - -
01742 - aciduria, D-glyceric 220120 AR - - GLYCTK - -
01765 - ectopia lentis et pupillae 225200 AR 7 1 ADAMTSL4 - -
01771 - Enterokinase deficiency 226200 AR 1 1 TMPRSS15 - -
01774 - epidermolysis bullosa, junctional, non-Herlitz type 226650 AR 1 1 COL17A1, ITGB4, LAMA3, LAMB3, LAMC2 - -
01777 - epidermolysis bullosa, junctional, with pyloric atresia 226730 AR 1 1 ITGA6, ITGB4 - -
01791 - glutamate formiminotransferase deficiency 229100 AR - - FTCD - -
01845 - homocysteinemia, due to deficiency of MTHFR 236250 AR - - MTHFR - -
01876 - Slow acetylator due to N-acetyltransferase enzyme variant 243400 AR - - NAT2 - -
01890 - growth hormone insensitivity with immunodeficiency 245590 - 8 8 STAT5B - -
01892 - deficiency, lecithin:cholesterol acyltransferase (Norum disease) 245900 AR - - LCAT - -
01917 - methionine adenosyltransferase deficiency 250850 AD;AR 1 1 MAT1A - -
01955 - carnitine palmitoyltransferase II deficiency, late-onset 255110 AD;AR 2 2 CPT2 - -
02002 - Parkinson-dementia syndrome 260540 AR - - MAPT - -
02041 - anemia, hemolytic , due to uridine 5-prime monophosphate hydrolase deficiency 266120 AR - - NT5C3 - -
02052 - acidosis, tubular, renal, with progressive nerve deafness 267300 AR - - ATP6V1B1 - -
02103 - hormone deficiency, thyrotropin-releasing 275120 AR - - TRH - -
02105 - dermopathy, restrictive, lethal 275210 AR - - LMNA, ZMPSTE24 - -
02106 - Transcobalamin II deficiency 275350 AR - - TCN2 - -
02149 - HPRT-related gout 300323 XLR 1 1 HPRT1 - -
02206 - Olmsted syndrome, X-linked 300918 XLR - - MBTPS2 - -
02279 - deafness, aminoglycoside-induced 580000 Mi - - TRMU - -
02297 - Helicobacter pylori infection, susceptibility to 600263 - - - IFNGR1, PTPRZ1 - -
02308 - CPT II deficiency, infantile 600649 AR 3 3 CPT2 - -
02450 - hyperthyroidism, familial gestational 603373 - - - TSHR - -
02511 - Pyogenic arthritis, pyoderma gangrenosum and acne 604416 AD - - PSTPIP1 - -
02519 - Bare lymphocyte syndrome type 1 604571 AR - - TAP1, TAP2, TAPBP - -
02540 - macrocephaly/autism syndrome 605309 AD 2 1 PTEN - -
02570 - transaldolase deficiency 606003 AR 1 1 TALDO1 - -
02593 - Glycine N-methyltransferase deficiency 606664 AR - - GNMT - -
02669 - arthritis, psoriatic, susceptibility to 607507 - - - LTA - -
02727 - Mycobacterium tuberculosis, susceptibility to 607948 - - - CCL2, CD209, CISH, IFNG, IFNGR1, IRGM, MC3R, SLC11A1, SP110, TIRAP, TLR2 - -
02763 - Legionellosis 608556 - - - TLR5 - -
02782 - AICA-ribosiduria due to ATIC deficiency 608688 AR - - ATIC - -
02785 - Spondyloepimetaphyseal dysplasia Matrilin-3 related 608728 AR 1 1 MATN3 - -
02798 - CPT II deficiency, lethal neonatal 608836 AR - - CPT2 - -
02827 - Hyperthyroidism, nonautoimmune 609152 AD - - TSHR - -
02848 - Epidermolysis bullosa simplex with migratory circinate erythema 609352 - - - KRT5 - -
02982 - Immunodeficiency due to defect in mapbp-interacting protein 610798 AR - - LAMTOR2 - -
03217 - Leukoencephalopathy, cystic, without megalencephaly 612951 AR - - RNASET2 - -
03260 - macrothrombocytopenia, autosomal dominant, TUBB1-related 613112 AD 2 2 TUBB1 - -
03281 - dystrophy, muscular, congenital, due to integrin alpha-7 deficiency 613204 AR - - ITGA7 - -
03345 - liposarcoma, myxoid 613488 - - - DDIT3 - -
03455 - Multisystemic smooth muscle dysfunction syndrome 613834 - - - ACTA2 - -
03464 - Inosine triphosphatase deficiency 613850 - - - ITPA - -
03465 - Fucosyltransferase 6 deficiency 613852 - - - FUT6 - -
03525 - Leukotriene c4 synthase deficiency 614037 AR - - LTC4S - -
03526 - Emberger syndrome 614038 AD 8 8 GATA2 - -
03564 - Thromboxane synthetase deficiency 614158 - - - TBXAS1 - -
03700 - fever, periodic, menstrual cycle-dependent 614674 AD - - HTR1A - -
04006 - Melioidosis, susceptibility to 615557 - - - TLR5 - -
04158 - alpha-actinin-3 deficiency 102574 AR 2 2 ACTN3 - -
04159 - anhidrosis - - 1 1 ITPR2 - -
04214 - retinal disease - - 48178 45681 ADAM9, AGBL5, ARL2BP, BBS2, C8orf37, IFT43, KIF3B, MERTK, PDE6G, REEP6, SCAPER, USH2A, ZNF408 - -
04551 - cirrhosis, cryptogenic, susceptibility to 215600 AR - - KRT18, KRT8 - -
05233 - lipodystrophy, congenital, and fatty liver disease - - 2 2 PCYT1A - -
06409 - [Bombay phenotype] 616754 AR - - FUT1 - -
06858 - ?Hemolytic anemia, congenital, X-linked 301015 XLR - - ATP11C - -
00969 AAAS achalasia-addisonianism-alacrimia syndrome 231550 AR 20 20 AAAS, TMEM48 cerebellum adrenal insufficiency, dysphagia/achalasia, no hyporeflexia, developmental delay, alacrima
07104 AAAS2 achalasia-addisonianism-alacrimia syndrome, type 2 - AR - - TMEM48 - no adrenal insufficiency, dysphagia/achalasia, polyneuropathy, hyporeflexia, developmental delay, alacrima, no postural hypotension, no sexual dysfunction
03057 AAT6 aneurysm, aortic, thoracic, familial, type 6 (AAT6) 611788 AD 4 1 ACTA2 - autosomal dominant
02220 ABERS Abruzzo Erickson syndrome (ABERS) 302905 XL - - TBX22 - -
01617 ABL abetalipoproteinaemia (ABL) 200100 AR 49 49 MTTP - -
03533 ACAT2D acetyl-CoA acetyltransferase-2 deficiency (ACAT2D) 614055 IC - - ACAT2 - -
03547 ACATALASIA acatalasemia 614097 - - - CAT - -
05479 ACG achondrogenesis (ACG) - - 1 1 COL2A1, SLC26A2, TRIP11 - -
01619 ACG1A achondrogenesis, type IA (ACG1A) 200600 AR 1 1 TRIP11 - -
04230 ACHM achromatopsia (ACHM) - - 105 104 ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H - -
03469 ACHM4 achromatopsia, type 4 (ACHM-4) 613856 - - - GNAT2 - -
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