Search Ontology:
Human Disease

spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism

Term ID
DOID:0112305
Synonyms
  • SMD with bowed forearms and facial dysmorphism
  • spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
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. https://pubmed.ncbi.nlm.nih.gov/12503112/
References
Ontology
Human Disease   ( DOID:0112305 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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