Search Ontology:
Human Disease
Treacher Collins syndrome
- Term ID
- DOID:2908
- Synonyms
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- Franceschetti syndrome
- mandibulofacial dysostosis
- 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/
- References
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- GARD:9124
- ICD10CM:Q75.4
- MESH:D008342
- MIM:PS154500
- NCI:C75018
- SNOMEDCT_US_2023_03_01:205416009
- UMLS_CUI:C0242387
- Ontology
- Human Disease ( DOID:2908 )
- is a type of
-
- has subtype
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Genes Involved
Zebrafish Models