Preferred Name |
Treacher Collins syndrome |
|
Synonyms |
mandibulofacial dysostosis 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]. |
|
alternative label |
mandibulofacial dysostosis Franceschetti syndrome |
|
database_cross_reference |
OMIM:PS154500 MESH:D008342 ICD10CM:Q75.4 SNOMEDCT_US_2023_03_01:205416009 UMLS_CUI:C0242387 GARD:9124 NCI:C75018 |
|
definition |
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]. |
|
has close match |
MESH:D008342 |
|
has exact match |
MESH:D008342 |
|
has exact synonym |
mandibulofacial dysostosis Franceschetti syndrome |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:2908 |
|
in_subset | ||
label |
Treacher Collins syndrome |
|
notation |
DOID:2908 |
|
note |
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]. |
|
preferred label |
Treacher Collins syndrome |
|
prefLabel |
Treacher Collins syndrome |
|
subClassOf |