Jump to:
loading...| Preferred Name |
Treacher Collins syndrome 1 |
|
| Synonyms |
|
|
| Definitions |
A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0080789 |
|
| database_cross_reference |
MIM:154500 |
|
| definition |
A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0080789 |
|
| label |
Treacher Collins syndrome 1 |
|
| notation |
DOID:0080789 |
|
| prefLabel |
Treacher Collins syndrome 1 |
|
| subClassOf |
Create mapping