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loading...| Preferred Name |
Treacher_Collins_Syndrome |
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| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Treacher_Collins_Syndrome |
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| ID |
C75018 |
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| NCI_Definition |
A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures. |
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| NCI_PT |
Treacher Collins Syndrome |
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| NICHD_Definition |
_ |
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| prefixIRI |
Treacher_Collins_Syndrome |
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| prefLabel |
Treacher_Collins_Syndrome |
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| Subset_Association1 |
NICHD Pediatric Terminology |
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| Subset_Association2 |
Neonatal Research Network Terminology |
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Genetic_Disorder |
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