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DO Term : Treacher Collins syndrome [DOID:2908] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.

synonyms:
UMLS_CUI:C0242387,
ICD10CM:Q75.4,
Franceschetti syndrome,
GARD:9124,
SNOMEDCT_US_2023_03_01:205416009,
NCI:C75018,
OMIM:PS154500,
PS154500,
mandibulofacial dysostosis,
MESH:D008342

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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