Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/154500 http://purl.bioontology.org/ontology/OMIM/154500
Preferred Name	TREACHER COLLINS SYNDROME 1
Synonyms	TCS TCS1 MFD1 TCOF TREACHER COLLINS-FRANCESCHETTI SYNDROME MANDIBULOFACIAL DYSOSTOSIS TREACHER COLLINS SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	TCS TCS1 MFD1 TCOF TREACHER COLLINS-FRANCESCHETTI SYNDROME MANDIBULOFACIAL DYSOSTOSIS TREACHER COLLINS SYNDROME See more See less
prefLabel	TREACHER COLLINS SYNDROME 1
Gene Symbol	MFD1 TCOF1 TCS1
Scope Statement	Caused by mutation in the treacle gene (TCOF1, 606847.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU001150 http://purl.bioontology.org/ontology/OMIM/MTHU017283 http://purl.bioontology.org/ontology/OMIM/MTHU036370 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU002112 http://purl.bioontology.org/ontology/OMIM/MTHU017284 http://purl.bioontology.org/ontology/OMIM/MTHU006867 http://purl.bioontology.org/ontology/OMIM/MTHU036924 http://purl.bioontology.org/ontology/OMIM/MTHU017281 http://purl.bioontology.org/ontology/OMIM/MTHU048589 http://purl.bioontology.org/ontology/OMIM/MTHU017282 http://purl.bioontology.org/ontology/OMIM/MTHU017280 See more See less
tui	T047
Gene Locus	5q32-q33.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	154500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C0242387
OMIM Entry Type	3
OMIM MimType Value	pound

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