congenital disorder of glycosylation type IIc

Term ID

DOID:0070255

Synonyms

• CDG IIc
• CDG2C
• CDGIIc
• Rambam-Hasharon syndrome

Definition

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. https://www.ncbi.nlm.nih.gov/pubmed/10590041

References

• GARD:4634
• MESH:C535755
• NCI:C4690
• OMIM:266265
• ORDO:99843
• SNOMEDCT_US_2023_03_01:234583001
• UMLS_CUI:C0398739

Ontology

Human Disease   ( DOID:0070255 )