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Disease Ontology Browser
spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (DOID:0112305)
Alliance: disease page
Synonyms: SMD with bowed forearms and facial dysmorphism; spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Alt IDs: OMIM:607543, MESH:C535791, ORDO:168552, UMLS_CUI:C1843706
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory