Preferred Name |
TREACHER COLLINS SYNDROME 1 |
Synonyms |
TCS1 |
ID |
http://purl.bioontology.org/ontology/OMIM/154500 |
altLabel |
TCS1 TREACHER COLLINS-FRANCESCHETTI SYNDROME MFD1 MANDIBULOFACIAL DYSOSTOSIS TREACHER COLLINS SYNDROME TCS TCOF |
cui |
C5574871 C0242387 |
Gene Locus |
5q32-q33.1 |
Gene Symbol |
TCOF1 TCS1 MFD1 |
Has manifestation |
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/MTHU017283 http://purl.bioontology.org/ontology/OMIM/MTHU017281 http://purl.bioontology.org/ontology/OMIM/MTHU036924 http://purl.bioontology.org/ontology/OMIM/MTHU001150 http://purl.bioontology.org/ontology/OMIM/MTHU006867 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU048589 http://purl.bioontology.org/ontology/OMIM/MTHU017284 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
154500 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
TREACHER COLLINS SYNDROME 1 |
Scope Statement |
Caused by mutation in the treacle gene (TCOF1, 606847.0001) [MOLECULAR BASIS] |
tui |
T047 |