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Summary Literature (0)
DOID:0080019 - metaphyseal dysplasia

Disease Ontology Definition:An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.

Synonyms: Bakwin-Krida syndrome, Pyle's disease, Pyle-Cohn syndrome,

Xenbase Genes : sfrp4, pth1r, trpv4, col10a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009943 - Pyle disease

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteochondrodysplasia (is_a)