Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:9004802 term browser browse the term
Synonyms:exact_synonym: Hypocholinesterasemia, Fluoride-Resistant, Japanese Type
 primary_id: MESH:C566751;   RDO:0015014
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 17256
    Nutritional and Metabolic Diseases 5551
      disease of metabolism 5551
        inherited metabolic disorder 2636
          Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 1
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          inherited metabolic disorder 2636
            Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 1
paths to the root