Details of Disease

General Information of Disease (ID: DISUJXOY)

Disease Name Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
Disease Hierarchy
DISTJLCH: Hereditary hemolytic uremic syndrome
DISUJXOY: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
Disease Identifiers
MONDO ID
MONDO_0957495
UMLS CUI
C5829585
OMIM ID
301110
MedGen ID
1840221

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
C1GALT1C1 OTRTZUF5 Limited X-linked [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.