Congenital Disorder of Glycosylation Type Ig

Preferred Label : Congenital Disorder of Glycosylation Type Ig;

NCIt synonyms : CDGIg;

NCIt definition : A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG12 gene, dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase.;

Details

Origin ID

C126873;

UMLS CUI

C2931001;

Automatic exact mappings (from CISMeF team)
- COG1-CDG [ORDO Disease]
Currated CISMeF NLP mapping
- ALG12-CDG [ORDO Disease]
- ALG12-congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 1G [MeSH concept]
- Congenital disorder of glycosylation, type ig [OMIM Phenotype]
- Mannosyltransferase 8 deficiency [ICD-11 More detail]
- congenital disorder of glycosylation Ig [DO Concept]
- congenital disorder of glycosylation type 1G [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG12-CDG [ORDO Disease]
- ALG12-congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 1G [MeSH concept]
- Congenital disorder of glycosylation, type ig [OMIM Phenotype]
- congenital disorder of glycosylation type 1G [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
- ALG12 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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