Search Ontology:
Human Disease

Goldenhar syndrome

Term ID
DOID:2907
Synonyms
  • Facio-auriculo-vertebral spectrum
  • First AND second branchial arch syndrome
  • First arch syndrome
  • HEMIFACIAL MICROSOMIA
  • OAV (oculoauriculovertebral) dysplasia
  • Otomandibular dysostosis
(all 6)
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
  • GARD:6540
  • ICD10CM:Q87.0
  • MESH:D006053
  • MIM:164210
  • NCI:C84740
  • ORDO:374
  • SNOMEDCT_US_2023_03_01:46567003
  • UMLS_CUI:C0265240
(all 8)
Ontology
Human Disease   ( DOID:2907 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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