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DOID:0112305 - spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
Disease Ontology Definition:A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia.
Synonyms: SMD with bowed forearms and facial dysmorphism, spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,
Xenbase Genes
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Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
spondylometaphyseal dysplasia (is_a)