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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-Cohn syndrome, Pyle's disease
Xenbase Genes
:
sfrp4,
pth1r,
trpv4,
col10a1
| MONDO:0009943 - Pyle disease |
| MIM:215050 - CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteochondrodysplasia (is_a)