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DO Term : acatalasia [DOID:2582] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • NCI:C84526,
  • 614097,
  • OMIM:614097,
  • acatalasemia,
  • SNOMEDCT_US_2023_03_01:190954001,
  • UMLS_CUI:C0268419,
  • deficiency of catalase,
  • MESH:D020642,
  • GARD:363,
  • ORDO:926
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

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Ontology Term --> Direct parents





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