loading...| Preferred Name |
Treacher-Collins syndrome |
|
| Synonyms |
MFD1 TCOF TCS Treacher Collins syndrome Franceschetti syndrome Treacher-Collins syndrome mandibulofacial dysostosis without limb anomalies Franceschetti-Klein syndrome |
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| Definitions |
Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0002457 |
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| altLabel |
MFD1 TCOF TCS Treacher Collins syndrome Franceschetti syndrome Treacher-Collins syndrome mandibulofacial dysostosis without limb anomalies Franceschetti-Klein syndrome |
|
| definition |
Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. |
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| has_exact_synonym |
Franceschetti syndrome Treacher-Collins syndrome mandibulofacial dysostosis without limb anomalies Franceschetti-Klein syndrome |
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| has_related_synonym |
MFD1 TCOF TCS Treacher Collins syndrome |
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| label |
Treacher-Collins syndrome |
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| prefixIRI |
MONDO:0002457 |
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| prefLabel |
Treacher-Collins syndrome |
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| textual definition |
Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015334 http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0020167 http://purl.obolibrary.org/obo/MONDO_0015161 http://purl.obolibrary.org/obo/MONDO_0018454 http://purl.obolibrary.org/obo/MONDO_0020158 http://purl.obolibrary.org/obo/MONDO_0018187 http://purl.obolibrary.org/obo/MONDO_0015483 http://purl.obolibrary.org/obo/MONDO_0015368 |