FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Goldenhar syndrome ID (Ontology) DOID:2907 (Human Disease)
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.
Also Known As "Facio-auriculo-vertebral spectrum" ; "First AND second branchial arch syndrome" ; "First arch syndrome" (for all, see Synonyms field below)
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 Genes
 Goldenhar syndrome       1
 for disease ribbon | Goldenhar syndrome       1
 model of | Goldenhar syndrome       1
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  disease
   |__syndrome
       |__Goldenhar syndrome  1 rec.
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Synonyms
  • "Facio-auriculo-vertebral spectrum" EXACT
    "First AND second branchial arch syndrome" EXACT
    "First arch syndrome" EXACT
    "HEMIFACIAL MICROSOMIA" EXACT
    "OAV (oculoauriculovertebral) dysplasia" EXACT
    "Otomandibular dysostosis" EXACT
Secondary IDs
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GARD:6540
ICD10CM:Q87.0
MESH:D006053
MIM:164210
NCI:C84740
ORDO:374
SNOMEDCT_US_2023_03_01:46567003
UMLS_CUI:C0265240