glycogen phosphorylase, muscle associated - CISMeF

" /> glycogen phosphorylase, muscle associated - CISMeF

CISMeF

chu

Glycogen phosphorylase, muscle associatedHGNC gene

Preferred Label : glycogen phosphorylase, muscle associated;

Approved symbol HGNC : PYGM;

Name synonyms HGNC : glycogen storage disease type V; glycogen phosphorylase; McArdle syndrome; myophosphorylase; muscle form;

Alias symbols HGNC : GSD5;

Chromosome HGNC : 11q13.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000068976;

Détails

Origin ID

HGNC:9726;

UMLS CUI

C1419157;

Automatic exact mappings (from CISMeF team)
- 1,4-alpha-oligoglucan phosphorylase activity [GO term]
- Form of muscle (finding) [SNOMED CT concept]
- Glycogen Storage Disease Type V [NCIt concept]
- Glycogen phosphorylase, muscle [OMIM gene]
- Glycogen storage disease V [OMIM Phenotype]
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type V [MedDRA Preferred Term]
- Glycogen storage disease, type V (disorder) [SNOMED CT concept]
- Type V glycogen storage disease [MedDRA LLT]
- glycogen phosphorylase [MeSH concept]
- glycogen phosphorylase [MeSH Descriptor]
- glycogen phosphorylase, muscle associated [ORDO Gene]
- glycogen phosphorylase, muscle form [MeSH Descriptor]
- glycogen storage disease V [DO Concept]
- glycogen storage disease type V [MeSH concept]
- glycogen storage disease type v [MeSH Descriptor]
- glycogen storage disease, type v [SNOMED Notion]
NCIt concept
- PYGM Gene [NCIt concept]
OMIM gene
- Glycogen phosphorylase, muscle [OMIM gene]
Orphanet gene
- glycogen phosphorylase, muscle associated [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen phosphorylase, muscle [OMIM gene]
- PYGM gene [LOINC component]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients

Nous contacter.
31/07/2025

[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.

" /> glycogen phosphorylase, muscle associated - CISMeF

CISMeF

chu

Glycogen phosphorylase, muscle associatedHGNC gene

Preferred Label : glycogen phosphorylase, muscle associated;

Approved symbol HGNC : PYGM;

Name synonyms HGNC : glycogen storage disease type V; glycogen phosphorylase; McArdle syndrome; myophosphorylase; muscle form;

Alias symbols HGNC : GSD5;

Chromosome HGNC : 11q13.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000068976;

Détails

Origin ID

HGNC:9726;

UMLS CUI

C1419157;

Automatic exact mappings (from CISMeF team)
- 1,4-alpha-oligoglucan phosphorylase activity [GO term]
- Form of muscle (finding) [SNOMED CT concept]
- Glycogen Storage Disease Type V [NCIt concept]
- Glycogen phosphorylase, muscle [OMIM gene]
- Glycogen storage disease V [OMIM Phenotype]
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type V [MedDRA Preferred Term]
- Glycogen storage disease, type V (disorder) [SNOMED CT concept]
- Type V glycogen storage disease [MedDRA LLT]
- glycogen phosphorylase [MeSH concept]
- glycogen phosphorylase [MeSH Descriptor]
- glycogen phosphorylase, muscle associated [ORDO Gene]
- glycogen phosphorylase, muscle form [MeSH Descriptor]
- glycogen storage disease V [DO Concept]
- glycogen storage disease type V [MeSH concept]
- glycogen storage disease type v [MeSH Descriptor]
- glycogen storage disease, type v [SNOMED Notion]
NCIt concept
- PYGM Gene [NCIt concept]
OMIM gene
- Glycogen phosphorylase, muscle [OMIM gene]
Orphanet gene
- glycogen phosphorylase, muscle associated [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen phosphorylase, muscle [OMIM gene]
- PYGM gene [LOINC component]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients

Nous contacter.
31/07/2025

[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.