Congenital Disorder of Glycosylation Type Ib

Preferred Label : Congenital Disorder of Glycosylation Type Ib;

NCIt synonyms : CDG1B;

NCIt definition : An autosomal recessive congenital disorder of glycosylation subtype caused by mutation(s) in the MPI gene, encoding mannose-6-phosphate isomerase.;

Details

Origin ID

C206519;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1B [MeSH concept]
- Congenital disorder of glycosylation, type ib [OMIM Phenotype]
- MPI-CDG [ORDO Disease]
- Mannosephosphate isomerase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Phosphomannose isomerase deficiency [ICD-11 More detail]
- congenital disorder of glycosylation Ib [DO Concept]
- congenital disorder of glycosylation type 1B [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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