Phosphoglycerate Mutase Deficiency

Preferred Label : Phosphoglycerate Mutase Deficiency;

NCIt synonyms : Muscle Phosphoglycerate Mutase Deficiency;

NCIt related terms : Glycogen Storage Disease X;

Alternative definition : NICHD: A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.;

Details

Origin ID

C131647;

UMLS CUI

C0268149;

Currated CISMeF NLP mapping
- Dimauro disease [MeSH concept]
- Glycogen storage disease X [OMIM Phenotype]
- Glycogen storage disease due to phosphoglycerate mutase deficiency [ORDO Disease]
- Glycogen storage disease type X (disorder) [SNOMED CT concept]
- Muscle phosphoglycerate mutase deficiency (disorder) [SNOMED CT concept]
- dimauro disease [MeSH Supplementary Concept]
- glycogen storage disease type 10 [Disease (Nov.)]
- glycogen storage disease type x [SNOMED Notion]
- muscle phosphoglycerate mutase deficiency [SNOMED Notion]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dimauro disease [MeSH concept]
- Glycogen storage disease X [OMIM Phenotype]
- Glycogen storage disease due to phosphoglycerate mutase deficiency [ORDO Disease]
- Glycogen storage disease type X (disorder) [SNOMED CT concept]
- Muscle phosphoglycerate mutase deficiency (disorder) [SNOMED CT concept]
- dimauro disease [MeSH Supplementary Concept]
- glycogen storage disease type 10 [Disease (Nov.)]
- glycogen storage disease type x [SNOMED Notion]
- muscle phosphoglycerate mutase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- Deficiency of phosphoglycerate mutase (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- PGAM2 Gene [NCIt concept]

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