loading...| Preferred Name |
Treacher Collins Syndrome |
|
| Synonyms |
Mandibulofacial Dysostosis Treacher Collins Syndrome |
|
| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75018 |
|
| code |
C75018 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus NICHD |
|
| DEFINITION |
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. |
|
| FULL_SYN |
Mandibulofacial Dysostosis Treacher Collins Syndrome |
|
| label |
Treacher Collins Syndrome |
|
| Legacy Concept Name |
Treacher_Collins_Syndrome |
|
| Preferred_Name |
Treacher Collins Syndrome |
|
| prefixIRI |
Thesaurus:C75018 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C4229856 |
|
| subClassOf |