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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:Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
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Accession:DOID:9004802 term browser browse the term
Synonyms:exact_synonym: Hypocholinesterasemia, Fluoride-Resistant, Japanese Type
 primary_id: MESH:C566751


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Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO ClinVar Annotator: match by term: Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type ClinVar PMID:8680411 PMID:9191541 PMID:9388484 PMID:10404729 PMID:12417112 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        inherited metabolic disorder 6611
          Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 1
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          inherited metabolic disorder 6611
            Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 1
paths to the root