Details of Disease | DrugMAP

General Information of Disease (ID: DISP0LJJ)

Disease Name	CCDC115-CDG
Synonyms	CDG IIo; carbohydrate deficient glycoprotein syndrome type IIo; CDG syndrome type IIo; congenital disorder of glycosylation, type IIo; congenital disorder of glycosylation type IIo; CDG-IIo; CDG2O; congenital disorder of glycosylation type 2o
Disease Hierarchy	DISO85MT: Disorder of multiple glycosylation DISEMWE1: Congenital disorder of glycosylation type II DISP0LJJ: CCDC115-CDG
Disease Identifiers	MONDO ID MONDO_0014789 UMLS CUI C4225191 OMIM ID 616828 MedGen ID 906792 Orphanet ID 468684 SNOMED CT ID 1187174002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCDC115	OT04AZNZ	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.