loading...| Preferred Name |
Fanconi anemia |
|
| Synonyms |
Fanconi panmyelopathy Fanconi pancytopenia |
|
| Definitions |
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 |
OMIM:PS227650 SNOMEDCT_US_2023_03_01:30575002 UMLS_CUI:C0015625 MESH:D005199 ICD10CM:D61.09 GARD:6425 NCI:C62505 ORDO:84 |
|
| 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 panmyelopathy Fanconi's anaemia Fanconi anaemia Fanconi's anemia Fanconi pancytopenia |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:13636 |
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
Fanconi anemia |
|
| notation |
DOID:13636 |
|
| prefLabel |
Fanconi anemia |
|
| subClassOf |