Details of Disease

General Information of Disease (ID: DISP5HU0)

Disease Name Congenital disorder of glycosylation, type IIaa
Disease Hierarchy
DISEMWE1: Congenital disorder of glycosylation type II
DISP5HU0: Congenital disorder of glycosylation, type IIaa
Disease Identifiers
MONDO ID
MONDO_0957540
UMLS CUI
C5830651
OMIM ID
620454
MedGen ID
1841287

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
STX5 OTQ0024B Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.