Preferred Name |
Fanconi anemia complementation group D2 |
|
Synonyms |
FANCD2 |
|
Definitions |
A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0111083 |
|
database_cross_reference |
OMIM:227646 |
|
has exact synonym |
FANCD2 FA4 FAD2 Fanconi pancytopenia type 4 |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0111083 |
|
label |
Fanconi anemia complementation group D2 |
|
notation |
DOID:0111083 |
|
prefLabel |
Fanconi anemia complementation group D2 |
|
textual definition |
A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. |
|
subClassOf |
Create mapping