chondrodysplasia punctata

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pex7, gnpat, ebp, agps

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): genetic disease (is_a), monogenic disease (is_a), syndrome (is_a)