loading...| Preferred Name |
Treacher Collins syndrome 1 |
|
| Synonyms |
TREACHER COLLINS syndrome 1 Treacher Collins syndrome TCS1 mandibulofacial dysostosis Treacher Collins-Franceschetti syndrome Treacher-Collins syndrome 1 Treacher-Collins syndrome caused by mutation in TCOF1 TCOF1 Treacher-Collins syndrome Treacher Collins syndrome type 1 |
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| Definitions |
Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007944 |
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| altLabel |
TREACHER COLLINS syndrome 1 Treacher Collins syndrome TCS1 mandibulofacial dysostosis Treacher Collins-Franceschetti syndrome Treacher-Collins syndrome 1 Treacher-Collins syndrome caused by mutation in TCOF1 TCOF1 Treacher-Collins syndrome Treacher Collins syndrome type 1 |
|
| definition |
Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene. |
|
| has_exact_synonym |
Treacher-Collins syndrome 1 Treacher-Collins syndrome caused by mutation in TCOF1 TCOF1 Treacher-Collins syndrome Treacher Collins syndrome type 1 |
|
| has_related_synonym |
TREACHER COLLINS syndrome 1 Treacher Collins syndrome TCS1 mandibulofacial dysostosis Treacher Collins-Franceschetti syndrome |
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| IAO_0000233 | ||
| label |
Treacher Collins syndrome 1 |
|
| prefixIRI |
MONDO:0007944 |
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| prefLabel |
Treacher Collins syndrome 1 |
|
| textual definition |
Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene. |
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| subClassOf |