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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/603197
http://purl.bioontology.org/ontology/OMIM/603197
|
|---|---|
| Preferred Name | PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6 |
| Synonyms |
NTE
NEUROPATHY TARGET ESTERASE
NEUROTOXIC ESTERASE
OLIVER-MCFARLANE SYNDROME
BOUCHER-NEUHAUSER SYNDROME
LAURENCE-MOON SYNDROME
PNPLA6
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NTE
NEUROPATHY TARGET ESTERASE
NEUROTOXIC ESTERASE
OLIVER-MCFARLANE SYNDROME
BOUCHER-NEUHAUSER SYNDROME
LAURENCE-MOON SYNDROME
PNPLA6
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
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|
|---|---|
| prefLabel |
PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6
|
| Gene Symbol |
NTEMND
PNPLA6
OMCS
SPG39
BNHS
LNMS
NTE
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|
| notation |
603197
|
| Has allelic variant |
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|
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
19p13.3
|
| Phenotype of |
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|
| tui |
T047
T028
|
| cui |
C0023138
C2677586
C1859093
C1826637
C1848745
|
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