Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:2582 )
Relationships
is a type of
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Genes Involved
Zebrafish Models