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Acatalasia

Disease ID: disease_node_10642

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DbxrefGARD:363, MESH:D020642, MIM:614097, NCI:C84526, ORDO:926, SNOMEDCT_US_2023_03_01:190954001, UMLS_CUI:C0268419
SubclassofDOID_906
Data SourceDOID, MESH
Synonymsacatalasemia, deficiency of catalase
Mesh IdD020642
Mesh LabelAcatalasia
Mesh SubclassofD018901
Doid Labelacatalasia
Doid DescriptionA peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.
Disease Node Iddisease_node_10642
Doid IdDOID_2582
LabelAcatalasia