| Metadata | |
|---|---|
| ID | DOID:0111087 |
| Name | Fanconi anemia complementation group C |
| Definition | A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/1574115, https://www.ncbi.nlm.nih.gov/pubmed/9272737 |
| Xrefs | |
| Synonyms |
FA3 [EXACT] FACC [EXACT] FANCC [EXACT] Fanconi pancytopenia type 3 [EXACT] |
| Parent Relationships |
is_a Fanconi anemia |