Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

BUTYRYLCHOLINESTERASE DEFICIENCY
Synonyms

PSEUDOCHOLINESTERASE DEFICIENCY

BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE

APNEA, POSTANESTHETIC

BCHED

HYPOCHOLINESTERASEMIA, FLUORIDE-RESISTANT, JAPANESE TYPE

ACHOLINESTERASEMIA

SUXAMETHONIUM SENSITIVITY
ID

http://purl.bioontology.org/ontology/OMIM/617936
altLabel

PSEUDOCHOLINESTERASE DEFICIENCY

BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE

APNEA, POSTANESTHETIC

BCHED

HYPOCHOLINESTERASEMIA, FLUORIDE-RESISTANT, JAPANESE TYPE

ACHOLINESTERASEMIA

SUXAMETHONIUM SENSITIVITY
cui

C0268379

C1867467

C1867469

C1622434

C1283400

C1867470

C1867468
Gene Locus

3q26.1-q26.2
Gene Symbol

CHE1

BCHE

BCHED
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU071846

http://purl.bioontology.org/ontology/OMIM/MTHU071847

http://purl.bioontology.org/ontology/OMIM/MTHU071845
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

617936
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

BUTYRYLCHOLINESTERASE DEFICIENCY
Scope Statement

Caused by mutation in the butyrylcholinesterase gene (BCHE, 177400.0001) [MOLECULAR BASIS]

Decreased butyrylcholinesterase activity can be secondary to malnutrition, pregnancy, malignancy, renal disease, and liver disease [MISCELLANEOUS]
tui

T046

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/RCD/D41y2 RCD CUI
http://purl.bioontology.org/ontology/MESH/C566750 MESH CUI
http://purl.bioontology.org/ontology/MESH/C566751 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-94400 SNMI CUI
http://purl.bioontology.org/ontology/RCD/D41y2 RCD CUI
http://purl.bioontology.org/ontology/MESH/C566751 MESH CUI
http://purl.bioontology.org/ontology/MESH/C537417 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10062674 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D6-94400 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10062674 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10062674 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C537417 MESH CUI
http://purl.bioontology.org/ontology/RCD/Xa5PW RCD CUI
http://purl.bioontology.org/ontology/MESH/C537417 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/360619001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/360597005 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/360619001 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C537417 MESH CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537417 RH-MESH LOOM
http://identifiers.org/omim/177400 REXO LOOM
http://identifiers.org/omim/177400 GEXO LOOM
http://identifiers.org/omim/177400 RETO LOOM
http://purl.obolibrary.org/obo/MONDO_0015270 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0015270 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015270 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015270 EFO LOOM
http://purl.obolibrary.org/obo/OMIM_177400 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3704 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/C537417 MESH LOOM