Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	BUTYRYLCHOLINESTERASE
Synonyms	BCHE, K VARIANT BCHE, J VARIANT BCHE NEWFOUNDLAND BCHE, SILENT 1 BCHE CYNTHIANA BCHE BCHE, FLUORIDE 2 BCHE JOHANNESBURG CHE1 BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE APNEA, POSTANESTHETIC ACYLCHOLINE ACYLHYDROLASE BUTYRYLCHOLINESTERASE DEFICIENCY PSEUDOCHOLINESTERASE E1 BCHE, H VARIANT APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1 BCHE, FLUORIDE 1
ID	http://purl.bioontology.org/ontology/OMIM/177400
altLabel	BCHE, K VARIANT BCHE, J VARIANT BCHE NEWFOUNDLAND BCHE, SILENT 1 BCHE CYNTHIANA BCHE BCHE, FLUORIDE 2 BCHE JOHANNESBURG CHE1 BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE APNEA, POSTANESTHETIC ACYLCHOLINE ACYLHYDROLASE BUTYRYLCHOLINESTERASE DEFICIENCY PSEUDOCHOLINESTERASE E1 BCHE, H VARIANT APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1 BCHE, FLUORIDE 1
cui	C3889604 C3889596 C3889592 C4016356 C3889588 C3889586 C3889605 C1867469 C1283400 C3889589 C3889606 C1412756 C3889591 C1867468
Gene Locus	3q26.1-q26.2
Gene Symbol	CHE1 BCHE BCHED
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/177400.0010 http://purl.bioontology.org/ontology/OMIM/177400.0013 http://purl.bioontology.org/ontology/OMIM/177400.0016 http://purl.bioontology.org/ontology/OMIM/177400.0015 http://purl.bioontology.org/ontology/OMIM/177400.0014 http://purl.bioontology.org/ontology/OMIM/177400.0011 http://purl.bioontology.org/ontology/OMIM/177400.0012 http://purl.bioontology.org/ontology/OMIM/177400.0001 http://purl.bioontology.org/ontology/OMIM/177400.0003 http://purl.bioontology.org/ontology/OMIM/177400.0008 http://purl.bioontology.org/ontology/OMIM/177400.0004 http://purl.bioontology.org/ontology/OMIM/177400.0006 http://purl.bioontology.org/ontology/OMIM/177400.0009 http://purl.bioontology.org/ontology/OMIM/177400.0002 http://purl.bioontology.org/ontology/OMIM/177400.0005 http://purl.bioontology.org/ontology/OMIM/177400.0007
MIMTYPEMEANING	Gene with known sequence
Moved from	177500
notation	177400
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	BUTYRYLCHOLINESTERASE
tui	T046 T047 T033 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C566751	MESH	CUI
http://purl.bioontology.org/ontology/RCD/D41y2	RCD	CUI
http://purl.bioontology.org/ontology/LNC/LP96329-5	LOINC	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://sbmi.uth.tmc.edu/ontology/ochv#46630	OCHV	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00019351	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.277.352.100.170.250	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15359	HRDO	LOOM
http://doe-generated-ontology.com/OntoAD#C0728810	ONTOAD	LOOM
http://www.orpha.net/ORDO/Orphanet_118998	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D002091	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MESH_D002091	BERO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/18004003	SNOMEDCT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0728810	OCHV	LOOM
http://purl.obolibrary.org/obo/OMIT_0003434	OMIT	LOOM
http://purl.bioontology.org/ontology/MESH/D002091	MESH	LOOM