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://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 ]

Synonyms: Fanconi pancytopenia Fanconi anaemia Fanconi's anaemia Fanconi's anemia Fanconi panmyelopathy

This is just here as a test because I lose it

Term information

database cross reference
  • ORDO:84
  • UMLS_CUI:C0015625
  • OMIM:PS227650
  • MESH:D005199
  • ICD10CM:D61.09
  • NCI:C62505
  • SNOMEDCT_US_2020_03_01:30575002
  • GARD:6425
Subsets

DO_FlyBase_slim, DO_rare_slim, NCIthesaurus

comment

Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].

has obo namespace

disease_ontology

id

DOID:13636

Term relations