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

AttributesValues
type
subClassOf
label
  • omodysplasia 2 (en)
described by
id
  • DOID:0080845
database_cross_reference
  • MESH:C567664
  • OMIM:164745
  • SNOMEDCT_US_2021_09_01:725165009
  • UMLS_CUI:C2750355
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21.
is topic of
is annotatedSource of
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