D-Glyceric Aciduria

Preferred Label : D-Glyceric Aciduria;

NCIt definition : An autosomal recessive genetic disorder caused by mutations in the GLYCTK gene, encoding glycerate kinase. The condition is characterized by excretion of D-glyceric acid in the urine. The phenotype varies from mild to severe, and may result in encephalopathy, mental retardation, microcephaly and early death.;

Details

Origin ID

C128804;

UMLS CUI

C0342765;

Automatic exact mappings (from CISMeF team)
- D-glyceric aciduria [DO Concept]
Currated CISMeF NLP mapping
- D-Glyceric aciduria (disorder) [SNOMED CT concept]
- D-glyceric acidaemia [ICD-11 More detail]
- D-glyceric aciduria [OMIM Phenotype]
- D-glyceric aciduria [ORDO Disease]
- D-glycericacidemia [MeSH concept]
- D-glycericacidemia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- D-Glyceric aciduria (disorder) [SNOMED CT concept]
- D-glyceric aciduria [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GLYCTK Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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