palmitoyl-protein thioesterase 1

Preferred Label : palmitoyl-protein thioesterase 1;

Approved symbol HGNC : PPT1;

Name synonyms HGNC : ceroid-lipofuscinosis; infantile; neuronal 1;

Alias symbols HGNC : CLN1; INCL;

Chromosome HGNC : 1p34.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000131238;

Details

Origin ID

HGNC:9325;

UMLS CUI

C1418854;

Automatic exact mappings (from CISMeF team)
- Ceroid lipofuscinosis, neuronal, 1 [OMIM Phenotype]
- Infantile (qualifier value) [SNOMED CT concept]
- Infantilism (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis [ICD-11 Subcategory]
- Palmitoyl-Protein Thioesterase 1 [NCIt concept]
- Palmitoyl-protein thioesterase 1 [OMIM gene]
- palmitoyl-protein thioesterase 1 [ORDO Gene]
- palmitoyl-protein thioesterase 1 [MeSH concept]
NCIt concept
- PPT1 Gene [NCIt concept]
OMIM gene
- Palmitoyl-protein thioesterase 1 [OMIM gene]
Orphanet gene
- palmitoyl-protein thioesterase 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PPT1 Gene [NCIt concept]
- PPT1 gene [LOINC component]
- Palmitoyl-protein thioesterase 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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