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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:Acholinesterasemia
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Accession:DOID:9000459 term browser browse the term
Synonyms:primary_id: MESH:C566750


show annotations for term's descendants           Sort by:
Acholinesterasemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO ClinVar Annotator: match by term: Acholinesterasemia ClinVar PMID:416211 PMID:1349196 PMID:1415224 PMID:1611188 PMID:1662391 More... NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Acholinesterasemia ClinVar PMID:25741868 NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:11,572,636...11,911,948 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        inherited metabolic disorder 3387
          Acholinesterasemia 2
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        genetic disease 7261
          inherited metabolic disorder 3387
            Acholinesterasemia 2
paths to the root