FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Treacher Collins syndrome ID (Ontology) DOID:2908 (Human Disease)
Definition A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
Also Known As "Franceschetti syndrome" ; "mandibulofacial dysostosis"
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Treacher Collins syndrome  5 rec.
                                 |__Treacher Collins syndrome 1
                                 |__Treacher Collins syndrome 2 3 rec.
                                 |__Treacher Collins syndrome 3 1 rec.
                                 |__Treacher Collins syndrome 4 1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "Franceschetti syndrome" EXACT
    "mandibulofacial dysostosis" EXACT
Secondary IDs
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GARD:9124
ICD10CM:Q75.4
MESH:D008342
MIM:PS154500
NCI:C75018
SNOMEDCT_US_2023_03_01:205416009
UMLS_CUI:C0242387