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Metadata
DOID 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

GARD:6425

ICD10CM:D61.09

MESH:D005199

NCI:C62505

OMIM:PS227650

ORDO:84

SNOMEDCT_US_2018_03_01:30575002

UMLS_CUI:C0015625

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

Fanconi pancytopenia [EXACT]

Fanconi panmyelopathy [EXACT]

Fanconi's anemia [EXACT]

Relationships

is_a congenital hypoplastic anemia

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