Preferred Name |
Treacher Collins syndrome |
|
Synonyms |
mandibulofacial dysostosis 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]. |
|
database_cross_reference |
SNOMEDCT_US_2020_03_01:205416009 OMIM:PS154500 MESH:D008342 ICD10CM:Q75.4 UMLS_CUI:C0242387 GARD:9124 NCI:C75018 |
|
has exact match |
MESH:D008342 |
|
has exact synonym |
mandibulofacial dysostosis Mandibulofacial dysostosis Franceschetti syndrome |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:2908 |
|
imported from | ||
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. |
|
subClassOf |
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