Phosphoglycerate Kinase 1 Deficiency

Preferred Label : Phosphoglycerate Kinase 1 Deficiency;

NCIt definition : An X-linked recessive inherited disorder caused by mutations in the PGK1 gene. Clinical manifestations include hemolytic anemia, myopathy, and neurologic involvement.;

Détails

Origin ID

C126738;

UMLS CUI

C1970848;

Currated CISMeF NLP mapping
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ORDO Disease]
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ICD-11 More detail]
- Phosphoglycerate kinase 1 deficiency [OMIM Phenotype]
- phosphoglycerate kinase 1 deficiency [MeSH concept]
- phosphoglycerate kinase 1 deficiency [MeSH Supplementary Concept]
- phosphoglycerate kinase 1 deficiency [DO Concept]
DO Cross reference
- phosphoglycerate kinase 1 deficiency [DO Concept]
See also inter- (CISMeF)
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ORDO Disease]
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ICD-11 More detail]
- Phosphoglycerate kinase 1 deficiency [OMIM Phenotype]
- phosphoglycerate kinase 1 deficiency [MeSH Supplementary Concept]
- phosphoglycerate kinase 1 deficiency [MeSH concept]
- phosphoglycerate kinase 1 deficiency [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_gene
- PGK1 Gene [NCIt concept]

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

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