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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

GARD:9124

ICD10CM:Q75.4

MESH:D008342

NCI:C75018

OMIM:PS154500

SNOMEDCT_US_2021_03_01:205416009

UMLS_CUI:C0242387

Subsets

NCIthesaurus

Synonyms

Franceschetti syndrome [EXACT]

Mandibulofacial dysostosis [EXACT]

mandibulofacial dysostosis [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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