Details of Disease | DrugMAP

General Information of Disease (ID: DIST2DH9)

Disease Name	Congenital disorder of glycosylation, type iit
Synonyms	CDG2T; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; Cdg Iit
Disease Hierarchy	DISEMWE1: Congenital disorder of glycosylation type II DIST2DH9: Congenital disorder of glycosylation, type iit
Disease Identifiers	MONDO ID MONDO_0030043 UMLS CUI C5394387 OMIM ID 618885 MedGen ID 1709627

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
GALNT2	OTZZ5386	Strong	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.