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Metadata
ID DOID:2582
Name acatalasia
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.
https://pubmed.ncbi.nlm.nih.gov/1999334/
Xrefs

GARD:363

MESH:D020642

NCI:C84526

OMIM:614097

ORDO:926

SNOMEDCT_US_2023_03_01:190954001

UMLS_CUI:C0268419

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

acatalasemia [EXACT]

deficiency of catalase [EXACT]

Parent Relationships

is_a peroxisomal disease

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