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chondrodysplasia punctata

Disease Summary
Associated Targets (9)
Tbio

7

Tchem

2


GARD Rare
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
GARD:0008542: 
ICD10:Q77.3: 
MESH:D002806: 
NCIT:C84632: 
Orphanet:93442: 
SCTID:360507004: 
UMLS:C0008445: