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
-
- GARD:363
- MESH:D020642
- MIM:614097
- NCI:C84526
- ORDO:926
- SNOMEDCT_US_2023_03_01:190954001
- UMLS_CUI:C0268419
- Ontology
- Human Disease ( DOID:2582 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models