loading...| Preferred Name |
Treacher Collins syndrome |
| Synonyms |
Mandibulofacial dysostosis |
| Definitions |
A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_2908 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:PS154500 SNOMEDCT_US_2020_03_01:205416009 GARD:9124 NCI:C75018 ICD10CM:Q75.4 UMLS_CUI:C0242387 MESH:D008342 |
| has exact match |
MESH:D008342 |
| has exact synonym |
Mandibulofacial dysostosis Franceschetti syndrome mandibulofacial dysostosis |
| id |
DOID:2908 |
| in_subset | |
| label |
Treacher Collins syndrome |
| notation |
DOID:2908 |
| prefLabel |
Treacher Collins syndrome |
| textual definition |
A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |