loading...| Preferred Name |
Mandibulofacial dysostosis |
| Synonyms |
Treacher Collins syndrome |
| Definitions |
A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. |
| ID |
http://purl.obolibrary.org/obo/HP_0005321 |
| database_cross_reference |
UMLS:C0242387 SNOMEDCT_US:82203000 MSH:D008342 |
| definition |
A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. |
| has_exact_synonym |
Treacher Collins syndrome |
| has_obo_namespace |
human_phenotype |
| id |
HP:0005321 |
| label |
Mandibulofacial dysostosis |
| notation |
HP:0005321 |
| prefLabel |
Mandibulofacial dysostosis |
| treeView | |
| subClassOf |