congenital disorder of glycosylation type IIf

Term ID

DOID:0070258

Synonyms

• Carbohydrate deficient glycoprotein syndrome type IIf
• CDG IIf
• CDG2F
• CDGIIdf
• CMP-sialic acid transporter deficiency
• SLC35A1-CDG

Definition

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. https://www.ncbi.nlm.nih.gov/pubmed/11157507

References

• GARD:12409
• MESH:C567040
• OMIM:603585
• ORDO:238459
• SNOMEDCT_US_2023_03_01:723624008
• UMLS_CUI:C1970344

Ontology

Human Disease   ( DOID:0070258 )