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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.
Mondo Term and Equivalent IDs
MONDO:0007944:  Treacher-Collins syndrome 1
UMLS:CN119605: