acatalasia

Term ID

DOID:2582

Synonyms

• acatalasemia
• deficiency of catalase

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/

References

• GARD:363
• MESH:D020642
• NCI:C84526
• OMIM:614097
• ORDO:926
• SNOMEDCT_US_2023_03_01:190954001
• UMLS_CUI:C0268419

Ontology

Human Disease   ( DOID:2582 )