FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term acatalasia ID (Ontology) DOID:2582 (Human Disease)
Definition A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.
Also Known As "acatalasemia" ; "deficiency of catalase"
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 Genes
 acatalasia       2
 for disease ribbon | acatalasia       2
 model of | acatalasia       2
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__peroxisomal disease
       |__acatalasia  2 rec.
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Is a peroxisomal disease
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Synonyms
  • "acatalasemia" EXACT
    "deficiency of catalase" EXACT
Secondary IDs
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GARD:363
MESH:D020642
MIM:614097
NCI:C84526
ORDO:926
SNOMEDCT_US_2023_03_01:190954001
UMLS_CUI:C0268419