Congenital Disorder of Glycosylation Type Ie

Preferred Label : Congenital Disorder of Glycosylation Type Ie;

NCIt synonyms : CDGIe;

NCIt definition : A congenital disorder of glycosylation sub-type caused by mutation(s) in the DPM1 gene, encoding dolichol-phosphate mannosyltransferase subunit 1.;

Details

Origin ID

C126871;

UMLS CUI

C1837396;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1E [MeSH concept]
- Congenital disorder of glycosylation type 1e (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type ie [OMIM Phenotype]
- DPM1-CDG [ORDO Disease]
- Dolichol-phosphate-mannose synthase 1 deficiency [ICD-11 More detail]
- congenital disorder of glycosylation type 1E [MeSH Supplementary Concept]
See also inter- (CISMeF)
- COG7-CDG [ORDO Disease]
- dolichyl-phosphate mannosyltransferase subunit 1, catalytic [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1E [MeSH concept]
- Congenital disorder of glycosylation type 1e (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type ie [OMIM Phenotype]
- DPM1-CDG [ORDO Disease]
- congenital disorder of glycosylation type 1E [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- DPM1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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