Metadata | |
---|---|
ID | DOID:0111093 |
Name | Fanconi anemia complementation group Q |
Definition | A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/23623386 |
Xrefs | |
Synonyms |
FANCQ [EXACT] |
Parent Relationships |
is_a Fanconi anemia |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |