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About: spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
described by
id
  • DOID:0112305
database_cross_reference
  • GARD:8719
  • MESH:C535791
  • OMIM:607543
  • ORDO:168552
  • UMLS_CUI:C1843706
has_exact_synonym
  • SMD with bowed forearms and facial dysmorphism
  • spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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