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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: Cholinesterase 2 Deficiency;   DEFICIENCY OF BUTYRYLCHOLINE ESTERASE;   Pseudocholinesterase E1 deficiency;   Pseudocholinesterase deficiency;   acylcholine acylhydrolase deficiency;   postanesthetic apnea;   succinylcholine sensitivity;   suxamethonium sensitivity
 narrow_synonym: BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE 1
 related_synonym: BCHE QUANTITATIVE H VARIANT;   BCHE*FS126;   BCHE, Dibucaine-Resistant I;   BCHE, H VARIANT;   BCHE, J VARIANT
 primary_id: MESH:C537417
 alt_id: MIM:617936


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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: BCHE, H variant | ClinVar Annotator: match by term: BCHE, J variant | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar Annotator: match by term: Postanesthetic apnea | ClinVar Annotator: match by term: Pseudocholinesterase E1 deficiency | ClinVar Annotator: match by term: Pseudocholinesterase deficiency		 CTD
ClinVar
OMIM
RGD		 PMID:416211 PMID:1271425 PMID:1306123 PMID:1349196 PMID:1415224 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 19050
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        inherited metabolic disorder 6611
          Butyrylcholinesterase Deficiency 2
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 2
paths to the root