loading...| Preferred Name |
Fanconi anemia |
| Synonyms |
Fanconi pancytopenia |
| Definitions |
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. Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. |
| ID |
http://purl.obolibrary.org/obo/DOID_13636 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. |
| database_cross_reference |
NCI:C62505 GARD:6425 UMLS_CUI:C0015625 OMIM:PS227650 MESH:D005199 ICD10CM:D61.09 ORDO:84 SNOMEDCT_US_2022_09_01:30575002 |
| 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. |
| has exact synonym |
Fanconi pancytopenia Fanconi anaemia Fanconi's anemia Fanconi panmyelopathy Fanconi's anaemia |
| has_obo_namespace |
disease_ontology |
| id |
DOID:13636 |
| in_subset |
http://purl.obolibrary.org/obo/doid#DO_rare_slim |
| label |
Fanconi anemia |
| notation |
DOID:13636 |
| prefLabel |
Fanconi anemia |
| subClassOf |