Search Ontology:
Human Disease
congenital disorder of glycosylation type IIb
- Term ID
- DOID:0070254
- Synonyms
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- 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
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- GARD:10767
- MESH:C565264
- MIM:606056
- ORDO:79330
- SNOMEDCT_US_2023_03_01:725028009
- UMLS_CUI:C1853736
- Ontology
- Human Disease ( DOID:0070254 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models