All diseases

12 entries on 1 page. Showing entries 1 - 12.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01383 - hyperostosis, endosteal (Worth disease) 144750 AD 2 - LRP5 - -
01484 - osteoporosis 166710 AD 36 6 CALCR, COL1A1, COL1A2, LRP5, PDLIM4, VDR - -
02399 BMND1 bone mineral density quantitative trait locus 1 (BMND-1) 601884 AD - - LRP5 - -
02391 EVR4 vitreoretinopathy, exudative, type 4 (EVR4) 601813 AD;AR 24 3 LRP5 - -
04240 EVR;FEVR vitreoretinopathy, exudative (EVR; familial FVER)) - - 259 231 CTNNB1, FZD4, LRP5, NDP, TSPAN12, ZNF408 - -
05370 INFF infertility, female (INFF) - - 93 91 CDC20, EBAG9, NLRP5, OOEP, PANX1, TBPL2, ZFP36L2 - -
00675 OPPG osteoporosis-pseudoglioma syndrome (OPPG) 259770 AR 47 48 LRP5 - -
05746 OPTA osteopetrosis, autosomal dominant (OPTA) - AD 1 1 CLCN7, LRP5 - -
02684 OPTA1 osteopetrosis, autosomal dominant, type 1 607634 AD 3 3 LRP5 - -
07113 OZEMA19 oocyte/zygote/embryo maturation arrest, type 19 620333 AR 7 7 NLRP5 - -
05720 PCLD4 liver disease, polycystic, type 4, with/without kidney cysts (PCLD4) 617875 AD - - LRP5 - -
02685 VBCH2 Van Buchem disease type 2 607636 AD 1 1 LRP5 - -
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