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Summary Literature (0)
DOID:2581 - chondrodysplasia punctata

Disease Ontology Definition:A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.

Synonyms: Chondrodysplasia punctata congenita (disorder), Chondrodysplasia calcificans congenita, Chondrodysplasia punctata congenita

Xenbase Genes : gnpat, agps, far1, pex5, pex7, hdac6, arsl, arsl, ebp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019701 - chondrodysplasia punctata

MIM:
MIM:215105 - CHONDRODYSPLASIA PUNCTATA SYNDROME

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): genetic disease (is_a), monogenic disease (is_a), syndrome (is_a)