Carbohydrate-Deficient Glycoprotein Syndrome

Preferred Label : Carbohydrate-Deficient Glycoprotein Syndrome;

NCIt synonyms : Congenital Disorder of Glycosylation;

NCIt related terms : Congenital Disorders of Glycosylation;

CISMeF acronym : CDG;

NCIt definition : An genetically heterogeneous group of autosomal recessive disorders of carbohydrate metabolism characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.;

Alternative definition : NICHD: A group of metabolic syndromes present at birth that result from deficient N-glycosylation of proteins. The manifestations are heterogenous and multi-systemic, and may include hypoglycemia due to hyperinsulinism and growth failure.;

Details

Origin ID

C84615;

UMLS CUI

C0282577;

Automatic exact mappings (from CISMeF team)
- 2'-CDg [MeSH concept]
- ALG13-CDG [ORDO Disease]
- Carbohydrate deficient glycoprotein syndrome [PASCAL descriptor]
- Congenital disorder of glycosylation, type II [OMIM Phenotype]
- Congenital disorder of glycosylation, type III [OMIM Phenotype]
- Congenital disorder of glycosylation, type id [OMIM Phenotype]
- Congenital disorder of glycosylation, type ie [OMIM Phenotype]
- Congenital disorder of glycosylation, type if [OMIM Phenotype]
- Congenital disorder of glycosylation, type im [OMIM Phenotype]
- Congenital disorder of glycosylation, type in [OMIM Phenotype]
- Congenital disorder of glycosylation, type it [OMIM Phenotype]
- MPDU1-CDG [ORDO Disease]
- RFT1-CDG [ORDO Disease]
- congenital disorder of glycosylation If [DO Concept]
- congenital disorder of glycosylation In [DO Concept]
- congenital disorder of glycosylation It [DO Concept]
- phosphomannomutase 2 [HGNC gene]
Currated CISMeF NLP mapping
- Carbohydrate-deficient glycoprotein syndrome (disorder) [SNOMED CT concept]
- Congenital disorder of deglycosylation 1 [OMIM Phenotype]
- Congenital disorder of glycosylation [MedDRA Preferred Term]
- Congenital disorder of glycosylation [ORDO Disease]
- congenital disorder of glycosylation [Disease (Nov.)]
- congenital disorder of glycosylation [DO Concept]
- congenital disorders of glycosylation [Error of metabolism category]
- congenital disorders of glycosylation [MeSH Descriptor]
- congenital disorders of glycosylation [MeSH concept]
DO Cross reference
- congenital disorder of glycosylation [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbohydrate-deficient glycoprotein syndrome (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation [MedDRA Preferred Term]
- Congenital disorder of glycosylation [ORDO Disease]
- congenital disorder of glycosylation [DO Concept]
- congenital disorder of glycosylation [Disease (Nov.)]
- congenital disorders of glycosylation [MeSH concept]
- congenital disorders of glycosylation [MeSH Descriptor]
Validated automatic mappings to BTNT
- Developmental and epileptic encephalopathy 36 [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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