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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
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Accession:DOID:9000441 term browser browse the term
Synonyms:exact_synonym: Apnea, Postanesthetic;   Cholinesterase 2 Deficiency;   DEFICIENCY OF BUTYRYLCHOLINE ESTERASE;   Pseudocholinesterase E1 deficiency;   Pseudocholinesterase deficiency;   Succinylcholine Sensitivity;   acylcholine acylhydrolase deficiency;   suxamethonium sensitivity
 narrow_synonym: BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE 1
 related_synonym: BCHE*FS126;   BCHE, Dibucaine-Resistant I
 primary_id: MESH:C537417
 alt_id: OMIM:177400;   RDO:0003260
For additional species annotation, visit the Alliance of Genome Resources.



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Butyrylcholinesterase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Suxamethonium sensitivity
ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase
ClinVar Annotator: match by term: Postanesthetic apnea
CTD
ClinVar
OMIM
RGD
PMID:416211 PMID:1349196 PMID:1415224 PMID:1611188 PMID:1662391 More... RGD:734636 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase ClinVar PMID:25741868 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Nutritional and Metabolic Diseases 5545
      disease of metabolism 5545
        inherited metabolic disorder 2629
          Butyrylcholinesterase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9477
        genetic disease 8979
          inherited metabolic disorder 2629
            Butyrylcholinesterase Deficiency 2
paths to the root