Congenital Disorder of Glycosylation Type Id

Preferred Label : Congenital Disorder of Glycosylation Type Id;

NCIt synonyms : CDGId;

NCIt definition : A congenital disorder of glycosylation subtype caused by mutation(s) in the ALG3 gene, encoding dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase.;

Details

Origin ID

C126870;

UMLS CUI

C1832736;

Currated CISMeF NLP mapping
- ALG3-CDG [ORDO Disease]
- Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 1D [MeSH concept]
- Congenital disorder of glycosylation, type id [OMIM Phenotype]
- congenital disorder of glycosylation type 1D [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG3-CDG [ORDO Disease]
- Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 1D [MeSH concept]
- Congenital disorder of glycosylation, type id [OMIM Phenotype]
- congenital disorder of glycosylation type 1D [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
- ALG3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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