loading...| Preferred Name |
Treacher Collins Syndrome |
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| Synonyms |
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| Definitions |
A Malformation Syndrome 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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| ID |
http://purl.obolibrary.org/obo/HIO_0000021 |
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| comment |
A Malformation Syndrome |
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| description |
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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| created_by |
Jade Hotchkiss |
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| creation_date |
2019-05-24T10:46:46.481915Z |
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| database cross reference |
NCIT:C75018 |
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| definition source | ||
| existence in other ontologies |
Sufficient |
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| has mode of inheritance | ||
| hasExactSynonym |
Mandibulofacial Dysostosis Mandibulofacial Dysostosis without Limb Anomalies Franceschetti-Klein Syndrome Treacher-Collins' Syndrome |
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| label |
Treacher Collins Syndrome |
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| prefixIRI |
HIO:0000021 |
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| prefLabel |
Treacher Collins Syndrome |
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| source | ||
| subClassOf |