Glycogen storage disease xiv

Preferred Label : Glycogen storage disease xiv;

Obsolete resource : true;

Moved to : 614921;

Alternative titles and symbols : Gsd14; Gsd xiv; Phosphoglucomutase 1 deficiency; Pgm1 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoglucomutase 1 gene (pgm1, 171900.0001);

Laboratory abnormalities : Increased serum creatine kinase; Increased serum ammonia; Decreased phosphoglucomutase 1 (pgm1) activity (1% of normal values);

Prefixed ID : 612934;

Détails

Origin ID

612934;

UMLS CUI

C2752015;

Broader ORDO disease(s)
- Glycogen storage disease due to phosphoglucomutase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Glycogen storage disease due to phosphoglucomutase deficiency [ICD-11 More detail]
- Glycogen storage disease due to phosphoglucomutase deficiency [ORDO Disease]
- PGM1-CDG [ORDO Disease]
- Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Phosphoglucomutase-1 deficiency [ICD-11 More detail]
- glycogen storage disease XIV [MeSH concept]
- glycogen storage disease XIV [MeSH Supplementary Concept]
ORDO concept(s)
- Glycogen storage disease due to phosphoglucomutase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to phosphoglucomutase deficiency [ORDO Disease]
- Glycogen storage disease due to phosphoglucomutase deficiency [ICD-11 More detail]
- PGM1-CDG [ORDO Disease]
- Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- glycogen storage disease XIV [MeSH Supplementary Concept]
- glycogen storage disease XIV [MeSH concept]

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

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