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ONTOLOGY REPORT - ANNOTATIONS


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
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Butyrylcholinesterase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:734636
RGD:11554173
RGD:8554872
RGD:7240710
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        inherited metabolic disorder 1864
          Butyrylcholinesterase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          inherited metabolic disorder 1864
            Butyrylcholinesterase Deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.