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Xeroderma Pigmentosum

Disease ID: disease_node_8034

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DbxrefGARD:7910, ICD10CM:Q82.1, MESH:D014983, NCI:C3452, ORDO:910, SNOMEDCT_US_2023_03_01:44600005, UMLS_CUI:C0043346
SubclassofDOID_225, DOID_0050737
Data SourceDOID, MESH
Mesh IdD014983
Mesh LabelXeroderma Pigmentosum
Mesh SubclassofD011230, D012868, D049914, D010787, D010859, D012873
Doid Labelxeroderma pigmentosum
Doid DescriptionA syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. OMIM mapping confirmed by DO. [SN].
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_8034
Doid IdDOID_0050427
LabelXeroderma Pigmentosum