Jump to:
loading...| Preferred Name |
Treacher Collins Syndrome |
| 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#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
| Contributing_Source |
NICHD Cellosaurus |
| 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 |
Treacher Collins Syndrome Mandibulofacial Dysostosis |
| label |
Treacher Collins Syndrome |
| Legacy Concept Name |
Treacher_Collins_Syndrome |
| Preferred_Name |
Treacher Collins Syndrome |
| prefixIRI |
Thesaurus:C75018 |
| prefLabel |
Treacher Collins Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C4229856 |
| subClassOf |
Create New Mapping