Metadata | |
---|---|
ID | DOID:0111095 |
Name | Fanconi anemia complementation group A |
Definition | A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. https://www.ncbi.nlm.nih.gov/pubmed/10094191, https://www.ncbi.nlm.nih.gov/pubmed/9371798 |
Xrefs | |
Synonyms |
FANCA [EXACT] |
Parent Relationships |
is_a Fanconi anemia |