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Metadata
ID DOID:2907
Name Goldenhar syndrome
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.
http://en.wikipedia.org/wiki/Goldenhar_syndrome, http://www.healthline.com/galecontent/goldenhar-syndrome, https://www.faces-cranio.org/goldenhar
Xrefs

GARD:6540

ICD10CM:Q87.0

MESH:D006053

MIM:164210

NCI:C84740

ORDO:374

SNOMEDCT_US_2023_03_01:46567003

UMLS_CUI:C0265240

Subsets

DO_rare_slim

NCIthesaurus

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]

Parent Relationships

is_a syndrome

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