Details of Disease

General Information of Disease (ID: DISQ6M2O)

Disease Name Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISQ6M2O: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
Disease Identifiers
MONDO ID
MONDO_0859518
UMLS CUI
C5830312
OMIM ID
620269
MedGen ID
1840948

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC35B2 DT81RKJ Limited Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC35B2 OTWKN3Z7 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.