loading...| 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 |