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General Information
ZIRC
OBO ID: DOID:2907
Term Name: Goldenhar syndrome Search Ontology:
Synonyms:
  • Facio-auriculo-vertebral spectrum
  • First AND second branchial arch syndrome
  • First arch syndrome
  • HEMIFACIAL MICROSOMIA
  • OAV (oculoauriculovertebral) dysplasia
  • Otomandibular dysostosis
Definition: 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. (3)
References:
  • CSP2005:0725-7823
  • ICD10CM:Q87.0
  • MESH:D006053
  • NCI:C84740
  • OMIM:164210
  • ORDO:374
  • SNOMEDCT_US_2018_03_01:15557005
  • SNOMEDCT_US_2018_03_01:46567003
  • UMLS_CUI:C0265240
Ontology: Human Disease   (DOID:2907)
Relationships
is a type of:
OTHER Goldenhar syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)