All diseases

10 entries on 1 page. Showing entries 1 - 10.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01484 - osteoporosis 166710 AD 36 6 CALCR, COL1A1, COL1A2, LRP5, PDLIM4, VDR - -
01219 CAFYD Caffey disease (CAFYD) 114000 AD 21 - COL1A1 - -
00169 EDS Ehlers-Danlos syndrome (EDS) - - 1785 223 ADAMTS2, B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, TNXB - -
05879 EDS7A Ehlers-Danlos syndrome, type VIIA (EDS-7A) 130060 AD 8 1 COL1A1 - -
00634 EDSARTH2 Ehlers-Danlos syndrome, arthrochalasia, type 2 617821 AD 27 - COL1A1, COL1A2 - -
05296 OI osteogenesis imperfecta (OI) - AD 4391 1271 BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, MBTPS2, MESDC2, P3H1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1 - -
01481 OI1 osteogenesis imperfecta, type I (OI1) 166200 AD 1413 101 COL1A1 - -
00637 OI2 osteogenesis imperfecta, type II (OI2) 166210 AD 509 11 COL1A1, COL1A2 - -
00636 OI3 osteogenesis imperfecta, type III (OI3) 259420 AD 721 17 COL1A1, COL1A2 - -
00635 OI4 osteogenesis imperfecta, type IV (OI4) 166220 AD 865 8 COL1A1, COL1A2 - -
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