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;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

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