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acatalasia
Summary
- Synonym
-
- 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.
- Super Class
- peroxisomal disease
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002634 | Arteriosclerosis |
| HP:0100758 | Gangrene |
| HP:0000230 | Gingivitis |
| HP:0012531 | Pain |
| HP:0000166 | Severe periodontitis |
| HP:0006357 | Premature loss of permanent teeth |
| HP:0100651 | Type I diabetes mellitus |
| HP:0001300 | Parkinsonism |
| HP:0000155 | Oral ulcer |
| HP:0005978 | Type II diabetes mellitus |
