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Fanconi anemia complementation group D2
Summary
- Synonym
-
- FA4
- FAD2
- FANCD2
- Fanconi pancytopenia type 4
- Definition
- A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.
- Super Class
- Fanconi anemia autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111083
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 |
