| Metadata | |
|---|---|
| ID | DOID:2908 |
| Name | Treacher Collins syndrome |
| Definition | A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. https://www.ncbi.nlm.nih.gov/books/NBK1532/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:205416009 |
| SKOS |
exactMatch MESH:D008342 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Franceschetti syndrome [EXACT] mandibulofacial dysostosis [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |