| Metadata | |
|---|---|
| ID | DOID:13636 |
| Name | Fanconi 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. http://en.wikipedia.org/wiki/Fanconi_anemia, http://ghr.nlm.nih.gov/condition/fanconi-anemia, http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1 |
| Xrefs |
SNOMEDCT_US_2023_03_01:30575002 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Fanconi anaemia [EXACT] Fanconi pancytopenia [EXACT] Fanconi panmyelopathy [EXACT] Fanconi's anaemia [EXACT] Fanconi's anemia [EXACT] |
| Parent Relationships |