| 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 |
SNOMEDCT_US_2023_03_01:190954001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
acatalasemia [EXACT] deficiency of catalase [EXACT] |
| Parent Relationships |
is_a peroxisomal disease |