loading...| Preferred Name |
Goldenhar syndrome |
|
| Synonyms |
Otomandibular dysostosis |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_2907 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:46567003 OMIM:164210 ICD10CM:Q87.0 UMLS_CUI:C0265240 MESH:D006053 GARD:6540 NCI:C84740 ORDO:374 |
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| has exact synonym |
Otomandibular dysostosis HEMIFACIAL MICROSOMIA First AND second branchial arch syndrome Facio-auriculo-vertebral spectrum First arch syndrome OAV (oculoauriculovertebral) dysplasia |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:2907 |
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| in_subset | ||
| label |
Goldenhar syndrome |
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| notation |
DOID:2907 |
|
| prefLabel |
Goldenhar syndrome |
|
| textual 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. |
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| subClassOf |