glycogen phosphorylase L

Preferred Label : glycogen phosphorylase L;

Approved symbol HGNC : PYGL;

Name synonyms HGNC : liver form; glycogen phosphorylase; Hers disease; glycogen storage disease type VI;

Alias symbols HGNC : GSD6;

Chromosome HGNC : 14q22.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000100504;

Details

Origin ID

HGNC:9725;

UMLS CUI

C1419156;

Automatic exact mappings (from CISMeF team)
- Glycogen Storage Disease Type VI [NCIt concept]
- Glycogen phosphorylase, liver [OMIM gene]
- Glycogen storage disease VI [OMIM Phenotype]
- Glycogen storage disease due to liver glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease due to liver glycogen phosphorylase deficiency [ICD-11 More detail]
- Glycogen storage disease type VI [MedDRA Preferred Term]
- Glycogen storage disease, type VI (disorder) [SNOMED CT concept]
- glycogen phosphorylase [MeSH concept]
- glycogen phosphorylase [MeSH Descriptor]
- glycogen phosphorylase L [ORDO Gene]
- glycogen storage disease VI [DO Concept]
- glycogen storage disease type VI [MeSH concept]
- glycogen storage disease type vi [MeSH Descriptor]
- glycogen storage disease, type vi [SNOMED Notion]
NCIt concept
- PYGL Gene [NCIt concept]
OMIM gene
- Glycogen phosphorylase, liver [OMIM gene]
Orphanet gene
- glycogen phosphorylase L [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen phosphorylase, liver [OMIM gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients