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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 1 (en)
described by
id
  • DOID:0080844
database_cross_reference
  • MESH:C537746
  • OMIM:258315
  • ORDO:93329
  • SNOMEDCT_US_2021_09_01:725166005
  • UMLS_CUI:C1850318
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32.
is topic of
is annotatedSource of
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