aspartoacylase

Preferred Label : aspartoacylase;

Approved symbol HGNC : ASPA;

Name synonyms HGNC : aminoacylase 2; cytosolic aspartoacylase; Canavan disease;

Alias symbols HGNC : ACY2; ASP;

Chromosome HGNC : 17p13.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000108381;

Details

Origin ID

HGNC:756;

UMLS CUI

C1412591;

Automatic exact mappings (from CISMeF team)
- Aspartoacylase [OMIM gene]
- Aspartoacylase (substance) [SNOMED CT concept]
- Canavan Disease [NCIt concept]
- Canavan disease [OMIM Phenotype]
- Canavan disease [MedDRA Preferred Term]
- Canavan disease [PASCAL descriptor]
- Canavan disease [DO Concept]
- Canavan disease [ICD-11 More detail]
- Canavan disease [ORDO Disease]
- Spongy degeneration of central nervous system (disorder) [SNOMED CT concept]
- aspartoacylase [ORDO Gene]
- aspartoacylase [MeSH concept]
- aspartoacylase [SNOMED Notion]
- aspartoacylase [MeSH Supplementary Concept]
- canavan disease [MeSH concept]
- canavan disease [MeSH Descriptor]
- leukodystrophies [MedlinePlus Topic]
NCIt concept
- ASPA Gene [NCIt concept]
OMIM gene
- Aspartoacylase [OMIM gene]
Orphanet gene
- aspartoacylase [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ASPA Gene [NCIt concept]
- ASPA gene [LOINC component]
- Aspartoacylase [OMIM gene]

Keyword's position in hierarchy(ies) :

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