Metadata | |
---|---|
ID | DOID:0111084 |
Name | Fanconi anemia complementation group E |
Definition | A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. https://www.ncbi.nlm.nih.gov/pubmed/11001585 |
Xrefs | |
Synonyms |
FACE [EXACT] FANCE [EXACT] |
Parent Relationships |
is_a Fanconi anemia |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |