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Fanconi Anemia

Disease ID: disease_node_3172

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DbxrefGARD:6425, ICD10CM:D61.09, MESH:D005199, MIM:PS227650, NCI:C62505, ORDO:84, SNOMEDCT_US_2023_03_01:30575002, UMLS_CUI:C0015625
SubclassofDOID_1342
Data SourceDOID, MESH
SynonymsFanconi anaemia, Fanconi pancytopenia, Fanconi panmyelopathy, Fanconi's anaemia, Fanconi's anemia
Mesh IdD005199
Mesh LabelFanconi Anemia
Mesh SubclassofD029502, D049914
Doid LabelFanconi anemia
Doid DescriptionA 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].
Disease Node Iddisease_node_3172
Doid IdDOID_13636
LabelFanconi Anemia