Preferred Name |
Fanconi anemia complementation group D1 |
|
Synonyms |
FANCD1 |
|
Definitions |
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0111089 |
|
database_cross_reference |
OMIM:605724 |
|
definition |
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. |
|
has exact synonym |
FANCD1 FAD1 |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0111089 |
|
label |
Fanconi anemia complementation group D1 |
|
notation |
DOID:0111089 |
|
prefLabel |
Fanconi anemia complementation group D1 |
|
subClassOf |
Create mapping