metaphyseal dysplasia

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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

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

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

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

Parent(s): osteochondrodysplasia (is_a)