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DOID:2582 - acatalasia
Disease Ontology 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.
Synonyms: acatalasemia, deficiency of catalase, deficiency of catalase (disorder),
Echinobase Genes :
MIM:614097 - acatalasemia |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
peroxisomal disease (is_a)