Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6
Synonyms

NTE
ID

http://purl.bioontology.org/ontology/OMIM/603197
altLabel

NTE

NEUROPATHY TARGET ESTERASE

NEUROTOXIC ESTERASE

OLIVER-MCFARLANE SYNDROME

BOUCHER-NEUHAUSER SYNDROME

LAURENCE-MOON SYNDROME

PNPLA6

SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
cui

C0023138

C2677586

C1859093

C1826637

C1848745
Gene Locus

19p13.3
Gene Symbol

NTEMND

PNPLA6

OMCS

SPG39

BNHS

LNMS

NTE
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/603197.0011

http://purl.bioontology.org/ontology/OMIM/603197.0013

http://purl.bioontology.org/ontology/OMIM/603197.0015

http://purl.bioontology.org/ontology/OMIM/603197.0014

http://purl.bioontology.org/ontology/OMIM/603197.0012

http://purl.bioontology.org/ontology/OMIM/603197.0010

http://purl.bioontology.org/ontology/OMIM/603197.0017

http://purl.bioontology.org/ontology/OMIM/603197.0016

http://purl.bioontology.org/ontology/OMIM/603197.0004

http://purl.bioontology.org/ontology/OMIM/603197.0007

http://purl.bioontology.org/ontology/OMIM/603197.0001

http://purl.bioontology.org/ontology/OMIM/603197.0003

http://purl.bioontology.org/ontology/OMIM/603197.0005

http://purl.bioontology.org/ontology/OMIM/603197.0009

http://purl.bioontology.org/ontology/OMIM/603197.0008

http://purl.bioontology.org/ontology/OMIM/603197.0002

http://purl.bioontology.org/ontology/OMIM/603197.0006
MIMTYPEMEANING

Gene with known sequence
notation

603197
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10056710 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/719103009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715984007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10073654 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/5619004 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10056710 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D007849 MESH CUI
http://purl.bioontology.org/ontology/CSP/1840-2225 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D4-01205 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/232059000 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D007849 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/X00e1 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/5619004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.84 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/232059000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10056710 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001790 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/PKy1. RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/719103009 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C567433 MESH CUI
http://purl.bioontology.org/ontology/MESH/C565850 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/715984007 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/719944006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10073654 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C536554 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10073654 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/719944006 SNOMEDCT CUI
http://purl.obolibrary.org/obo/PR_000012946 PR LOOM