Lipase a, lysosomal acid

Preferred Label : Lipase a, lysosomal acid;

Symbol : LIPA;

CISMeF acronym : LIPA;

Type : Gene;

Alternative titles and symbols : Lysosomal acid lipase; Cholesterol ester hydrolase; LAL;

Ensembl ID : ENSG00000107798;

Prefixed ID : *613497;

Details

Origin ID

613497;

UMLS CUI

C1416865;

Automatic exact mappings (from CISMeF team)
- Line Probe Assay [NCIt concept]
- Lysosomal Acid Lipase Measurement [NCIt concept]
- Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase [NCIt concept]
- Lysosomal acid lipase [LOINC component]
- lipase A, lysosomal acid type [ORDO Gene]
- lipoate synthase activity [GO term]
- secretoglobin family 1D member 1 [HGNC gene]
- sterol esterase [MeSH Descriptor]
Currated CISMeF NLP mapping
- LIPA Gene [NCIt concept]
- lipase A, lysosomal acid type [HGNC gene]
HGNC gene
- lipase A, lysosomal acid type [HGNC gene]
NCIt concept(s)
- LIPA Gene [NCIt concept]
- LIPA wt Allele [NCIt concept]
- Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase [NCIt concept]
ORDO concept(s)
- lipase A, lysosomal acid type [ORDO Gene]
Phenotypes related
- Lysosomal acid lipase deficiency [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- LIPA Gene [NCIt concept]
- lipase A, lysosomal acid type [HGNC gene]
Validated automatic mappings to BTNT
- LIPA wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients