loading...| Preferred Name |
Treacher-Collins syndrome |
|
| Synonyms |
MFD1 TCOF TCS Franceschetti syndrome mandibulofacial dysostosis without limb anomalies Treacher Collins Syndrome Franceschetti-Klein syndrome Treacher-Collins syndrome Treacher Collins syndrome |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0002457 |
|
| closeMatch | ||
| database_cross_reference |
NCIT:C75018 MedDRA:10051456 Orphanet:861 UMLS:C0242387 OMIMPS:154500 SCTID:62767009 DOID:2908 GARD:9124 NORD:1785 |
|
| definition |
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. |
|
| exactMatch |
https://omim.org/phenotypicSeries/PS154500 http://linkedlifedata.com/resource/umls/id/C0242387 http://purl.obolibrary.org/obo/DOID_2908 http://purl.obolibrary.org/obo/Orphanet_861 |
|
| has_exact_synonym |
Franceschetti syndrome mandibulofacial dysostosis without limb anomalies Treacher Collins Syndrome Franceschetti-Klein syndrome Treacher-Collins syndrome Treacher Collins syndrome |
|
| has_related_synonym |
MFD1 TCOF TCS |
|
| id |
MONDO:0002457 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#prototype_pattern http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
Treacher-Collins syndrome |
|
| notation |
MONDO:0002457 |
|
| preferred label |
Treacher-Collins syndrome |
|
| prefLabel |
Treacher-Collins syndrome |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0015161 http://purl.obolibrary.org/obo/MONDO_0015483 |
|
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015334 http://purl.obolibrary.org/obo/MONDO_0020190 http://purl.obolibrary.org/obo/MONDO_0020167 |