loading...| Preferred Name | obsolete_Treacher-Collins syndrome | |
| Synonyms |
Collins Syndrome, Treacher Dysostoses, Mandibulofacial Mandibulofacial Dysostosis Treacher Collins Syndrome Dysostosis, Mandibulofacial Mandibulofacial Dysostoses Syndrome, Treacher Collins |
|
| Definitions |
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0003954 |
|
| Obsolete |
true |
|
| database_cross_reference |
OMIM:154500 MeSH:D008342 |
|
| definition |
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) |
|
| deprecated |
true |
|
| has_exact_synonym |
Collins Syndrome, Treacher Dysostoses, Mandibulofacial Mandibulofacial Dysostosis Treacher Collins Syndrome Dysostosis, Mandibulofacial Mandibulofacial Dysostoses Syndrome, Treacher Collins |
|
| label |
obsolete_Treacher-Collins syndrome |
|
| obsoleted_in_version |
2.32 |
|
| organizational_class |
true |
|
| preferred label |
obsolete_Treacher-Collins syndrome |
|
| prefixIRI |
efo1:EFO_0003954 |
|
| prefLabel |
obsolete_Treacher-Collins syndrome |
|
| reason_for_obsolescence |
use 'http://www.orpha.net/ORDO/Orphanet_861' instead. New Label : Treacher-Collins syndrome |
|
| term editor |
Tomasz Adamusiak |
|
| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0003954 | EFO | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0003954 | HSPO | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0003954 | EFO | LOOM | |
| http://www.ebi.ac.uk/efo/EFO_0003954 | HSPO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_861 | EFO | LOOM |