Fanconi anemia

Term ID

DOID:13636

Synonyms

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. (3)

References

GARD:6425
ICD10CM:D61.09
MESH:D005199
NCI:C62505
OMIM:PS227650
ORDO:84
SNOMEDCT_US_2023_03_01:30575002
UMLS_CUI:C0015625

Ontology

Human Disease ( DOID:13636 )

Relationships

is a type of: congenital hypoplastic anemia

congenital hypoplastic anemia Show first 5 Terms
has subtype: Fanconi anemia complementation group A Fanconi anemia complementation group B Fanconi anemia complementation group C Fanconi anemia complementation group D1 Fanconi anemia complementation group D2 ... Show All 19 Terms

Fanconi anemia complementation group A Fanconi anemia complementation group B Fanconi anemia complementation group C Fanconi anemia complementation group D1 Fanconi anemia complementation group D2 Fanconi anemia complementation group E Fanconi anemia complementation group F Fanconi anemia complementation group G Fanconi anemia complementation group I Fanconi anemia complementation group J Fanconi anemia complementation group L Fanconi anemia complementation group N Fanconi anemia complementation group O Fanconi anemia complementation group P Fanconi anemia complementation group Q Fanconi anemia complementation group R Fanconi anemia complementation group T Fanconi anemia complementation group U Fanconi anemia complementation group V Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations