Congenital Disorder of Glycosylation Type Ih

Preferred Label : Congenital Disorder of Glycosylation Type Ih;

NCIt synonyms : CDGIh; ALG8-CDG;

NCIt definition : An autosomal recessive congenital disorder of glycosylation subtype caused by mutation(s) in the ALG8 gene, encoding probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase.;

Details

Origin ID

C206097;

Currated CISMeF NLP mapping
- ALG8-CDG [ORDO Disease]
- Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 1H [MeSH concept]
- Congenital disorder of glycosylation, type ih [OMIM Phenotype]
- congenital disorder of glycosylation Ih [DO Concept]
- congenital disorder of glycosylation type 1H [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ALG8 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients