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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: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)