Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

TREACHER COLLINS SYNDROME 1
Synonyms

TCS
ID

http://purl.bioontology.org/ontology/OMIM/154500
altLabel

TCS

TCS1

MFD1

TCOF

TREACHER COLLINS-FRANCESCHETTI SYNDROME

MANDIBULOFACIAL DYSOSTOSIS

TREACHER COLLINS SYNDROME
cui

C0242387
Gene Locus

5q32-q33.1
Gene Symbol

MFD1

TCOF1

TCS1
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
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
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10044554 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10051464 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10051456 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D008342 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D008342 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10051456 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001939 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10051456 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0242387 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SCTSPA/82203000 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10/Q75.4 ICD10 CUI
http://purl.bioontology.org/ontology/SNOMEDCT/82203000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q75.4 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10044554 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-00722 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10051464 MDRFRE CUI
http://purl.bioontology.org/ontology/HL7/C0242387 HL7 CUI
http://purl.bioontology.org/ontology/MEDDRA/10051464 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10044554 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/XE2ud RCD CUI
http://purl.bioontology.org/ontology/LNC/LA29641-0 LOINC CUI
http://purl.obolibrary.org/obo/MONDO_0007944 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0080789 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0080789 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007944 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_0080789 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080789 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080789 FNS-H LOOM
http://identifiers.org/omim/154500 REXO LOOM
http://identifiers.org/omim/154500 GEXO LOOM
http://identifiers.org/omim/154500 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_154500 CCO LOOM