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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
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100605 | Neoplasm of the larynx |
| HP:0001045 | Vitiligo |
| HP:0100753 | Schizophrenia |
| HP:0001935 | Microcytic anemia |
| HP:0000225 | Gingival bleeding |
| HP:0012517 | Reduced circulating catalase activity |
| HP:0000007 | Autosomal recessive inheritance |
