loading...| Preferred Name |
Goldenhar syndrome |
| Synonyms |
OAV (oculoauriculovertebral) dysplasia |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_2907 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
ORDO:374 ICD10CM:Q87.0 SNOMEDCT_US_2022_09_01:46567003 MESH:D006053 GARD:6540 OMIM:164210 UMLS_CUI:C0265240 NCI:C84740 |
| 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. |
| has exact synonym |
OAV (oculoauriculovertebral) dysplasia Facio-auriculo-vertebral spectrum HEMIFACIAL MICROSOMIA First AND second branchial arch syndrome First arch syndrome Otomandibular dysostosis |
| has_obo_namespace |
disease_ontology |
| id |
DOID:2907 |
| in_subset | |
| label |
Goldenhar syndrome |
| notation |
DOID:2907 |
| prefLabel |
Goldenhar syndrome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D006053 | Medical Subject Headings | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84740 | National Cancer Institute Thesaurus | LOOM |