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Fanconi anemia
Summary
- Synonym
-
- Fanconi anaemia
- Fanconi pancytopenia
- Fanconi panmyelopathy
- Fanconi's anaemia
- Fanconi's anemia
- Definition
- A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
- Super Class
- congenital hypoplastic anemia
External Links
- Disease Ontology
- DOID:13636
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15287 | Fanconi anemia group G protein | |
| P51587 | Breast cancer type 2 susceptibility protein | |
| Q9BXW9 | Fanconi anemia group D2 protein | |
| Q9NVI1 | Fanconi anemia group I protein |
