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

OMIM mapping confirmed by DO. [SN].

AttributesValues
type
subClassOf
label
  • Goldenhar syndrome
comment
  • OMIM mapping confirmed by DO. [SN].
described by
id
  • DOID:2907
database_cross_reference
  • ICD10CM:Q87.0
  • GARD:6540
  • MESH:D006053
  • NCI:C84740
  • OMIM:164210
  • ORDO:374
  • SNOMEDCT_US_2021_09_01:46567003
  • UMLS_CUI:C0265240
has_exact_synonym
  • Facio-auriculo-vertebral spectrum (en)
  • First AND second branchial arch syndrome (en)
  • First arch syndrome (en)
  • HEMIFACIAL MICROSOMIA (en)
  • OAV (oculoauriculovertebral) dysplasia (en)
  • Otomandibular dysostosis (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
is topic of
is annotatedSource of
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