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 |
|
definition |
A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. |
|
imported from | ||
label |
Treacher Collins syndrome 1 |
|
prefixIRI |
DOID:0080789 |
|
prefLabel |
Treacher Collins syndrome 1 |
|
subClassOf |
Create mapping