loading...| Preferred Name |
Mandibulofacial Dysostosis [Disease/Finding] |
|
| Synonyms |
Mandibulofacial Dysostosis (MFD1) Treacher Collins Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001939 |
|
| altLabel |
Mandibulofacial Dysostosis (MFD1) Franceschetti-Zwahlen-Klein Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Treacher Collins Syndrome |
|
| cui |
C0242387 |
|
| MESH 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) |
|
| MESH DUI |
D008342 |
|
| MeSH name |
Mandibulofacial Dysostosis |
|
| MESH UI |
M0012984 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001939 |
|
| NUI |
N0000001939 |
|
| prefLabel |
Mandibulofacial Dysostosis [Disease/Finding] |
|
| SNOMED CID |
82203000 |
|
| tui |
T019 |
|
| subClassOf |