Disease Summary help help Associated Targets (9)Tbio7Tchem2 Explore Associated Targets list GARD Rare open_in_new Mondo Description A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. Mondo Term and Equivalent IDs MONDO:0019701: chondrodysplasia punctata DOID:2581: chondrodysplasia punctataopen_in_newGARD:0008542: open_in_newICD10:Q77.3: MESH:D002806: open_in_newNCIT:C84632: open_in_newOrphanet:93442: SCTID:360507004: open_in_newUMLS:C0008445: open_in_new