FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism ID (Ontology) DOID:0112305 (Human Disease)
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.
Also Known As "SMD with bowed forearms and facial dysmorphism" ; "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"
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  osteochondrodysplasia
   |__spondylometaphyseal dysplasia
       |__spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
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Synonyms
  • "SMD with bowed forearms and facial dysmorphism" EXACT
    "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome" EXACT
Secondary IDs
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GARD:8719
MESH:C535791
MIM:607543
ORDO:168552
UMLS_CUI:C1843706