glycogen storage disease XIII

Preferred Label : glycogen storage disease XIII;

MeSH note : mutation in ENO3;

MeSH synonym : Enolase-Beta deficiency; GSD13; enolase 3 deficiency; GSD XIII;

Details

Origin ID

C567861;

UMLS CUI

C2752027;

Currated CISMeF NLP mapping
- Glycogen storage disease XIII [OMIM Phenotype]
- Glycogen storage disease due to muscle beta-enolase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle beta-enolase deficiency [ICD-11 More detail]
- beta enolase deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- glycogen storage disease [MeSH Descriptor]
Record concept(s)
- glycogen storage disease XIII [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease XIII [OMIM Phenotype]
- Glycogen storage disease due to muscle beta-enolase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle beta-enolase deficiency [ICD-11 More detail]
- beta enolase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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