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Fanconi Anemia Complementation Group P

Disease ID: disease_node_15292

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DbxrefMIM:613951
SubclassofDOID_0050737, DOID_13636
Data SourceDOID
SynonymsFANCP
Doid LabelFanconi anemia complementation group P
Doid DescriptionA Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_15292
Doid IdDOID_0111092
LabelFanconi Anemia Complementation Group P