lipase A, lysosomal acid type

Preferred Label : lipase A, lysosomal acid type;

Approved symbol HGNC : LIPA;

Name synonyms HGNC : lysosomal acid lipase; Wolman disease; sterol esterase;

Alias symbols HGNC : LAL; CESD;

Chromosome HGNC : 10q23.31;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000107798;

Details

Origin ID

HGNC:6617;

UMLS CUI

C1416865;

Automatic exact mappings (from CISMeF team)
- Cholesterol esterase [LOINC component]
- Lysosomal Acid Lipase Measurement [NCIt concept]
- Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase [NCIt concept]
- Lysosomal acid lipase [LOINC component]
- Lysosomal acid lipase deficiency [OMIM Phenotype]
- Other lipid storage disorders [ICD-10 Sub-category]
- Wolman Disease [NCIt concept]
- Wolman disease [DO Concept]
- Wolman disease [PASCAL descriptor]
- Wolman disease [ORDO Disease]
- Wolman disease [ICD-11 More detail]
- Wolman's disease [MedDRA LLT]
- Wolman's disease (disorder) [SNOMED CT concept]
- lipase A, lysosomal acid type [ORDO Gene]
- sterol esterase [MeSH concept]
- sterol esterase [MeSH Descriptor]
- wolman disease [MeSH Descriptor]
- wolman disease [MeSH concept]
- wolman's disease [SNOMED Notion]
Currated CISMeF NLP mapping
- LIPA Gene [NCIt concept]
- Lipase a, lysosomal acid [OMIM gene]
NCIt concept
- LIPA Gene [NCIt concept]
OMIM gene
- Lipase a, lysosomal acid [OMIM gene]
Orphanet gene
- lipase A, lysosomal acid type [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- LIPA Gene [NCIt concept]
- Lipase a, lysosomal acid [OMIM gene]

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