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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:acatalasia
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Accession:DOID:2582 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Acatalasemia;   Acatalasemia Japanese Type;   Acatalasemia Swiss Type;   Catalase Deficiencies;   Catalase Deficiency;   Hypocatalasemia;   Hypocatalasia;   Takahara Disease;   Takahara's Disease;   Takaharas Disease;   deficiency of catalase
 primary_id: MESH:D020642
 alt_id: OMIA:001138;   OMIM:614097
 xref: EFO:0004144;   GARD:363;   NCI:C84526;   ORDO:926
For additional species annotation, visit the Alliance of Genome Resources.


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acatalasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Acatalasemia, japanese type | ClinVar Annotator: match by term: Acatalasia | ClinVar Annotator: match by term: Catalase deficiency		 OMIM
CTD
ClinVar		 PMID:1551654 PMID:2308162 PMID:8673475 PMID:11001624 PMID:11117918 More... NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          peroxisomal disease 344
            acatalasia 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            peroxisomal disease 344
              acatalasia 1
paths to the root