congenital disorder of glycosylation type IIb

Term ID

DOID:0070254

Synonyms

• CDG IIb
• CDG2B
• CDGIIb
• glucosidase I deficiency

Definition

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. https://www.ncbi.nlm.nih.gov/pubmed/10788335

References

• GARD:10767
• MESH:C565264
• OMIM:606056
• ORDO:79330
• SNOMEDCT_US_2023_03_01:725028009
• UMLS_CUI:C1853736

Ontology

Human Disease   ( DOID:0070254 )