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DO Term : Goldenhar syndrome [DOID:2907] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
ORDO:374,
164210,
NCI:C84740,
OMIM:164210,
OAV (oculoauriculovertebral) dysplasia,
First arch syndrome,
GARD:6540,
SNOMEDCT_US_2023_03_01:46567003,
HEMIFACIAL MICROSOMIA,
ICD10CM:Q87.0,
Otomandibular dysostosis,
UMLS_CUI:C0265240,
Facio-auriculo-vertebral spectrum,
MESH:D006053,
First AND second branchial arch syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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