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Treacher-Collins syndrome 1
Disease Summary
Associated Targets (4)
Tbio
4
Mondo Description Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.
Uniprot Description A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:154500
UMLS:CN119605
MONDO:0007944
High level summary of knowledge for a disease, including descriptions and datasource references.