Goldenhar Syndrome
Disease ID: disease_node_3556
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| Dbxref | GARD:6540, ICD10CM:Q87.0, MESH:D006053, MIM:164210, NCI:C84740, ORDO:374, SNOMEDCT_US_2023_03_01:46567003, UMLS_CUI:C0265240 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID, MESH |
| Synonyms | Facio-auriculo-vertebral spectrum, First AND second branchial arch syndrome, First arch syndrome, HEMIFACIAL MICROSOMIA, OAV (oculoauriculovertebral) dysplasia, Otomandibular dysostosis |
| Mesh Id | D006053 |
| Mesh Label | Goldenhar Syndrome |
| Mesh Subclassof | D008342 |
| Doid Label | Goldenhar syndrome |
| Doid 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_3556 |
| Doid Id | DOID_2907 |
| Label | Goldenhar Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)