Preferred Name |
Treacher Collins syndrome |
Synonyms |
Franceschetti syndrome |
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 GARD:9124 NCI:C75018 SNOMEDCT_US_2022_09_01:205416009 ICD10CM:Q75.4 UMLS_CUI:C0242387 MESH:D008342 |
definition |
A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. |
has exact match |
MESH:D008342 |
has exact synonym |
Franceschetti syndrome mandibulofacial dysostosis |
has material basis in | |
has_obo_namespace |
disease_ontology |
id |
DOID:2908 |
in_subset | |
label |
Treacher Collins syndrome |
notation |
DOID:2908 |
prefLabel |
Treacher Collins syndrome |
subClassOf |