Details of Disease

General Information of Disease (ID: DIS2KO3L)

Disease Name Leukodystrophy, hypomyelinating, 21
Synonyms HLD21; leukodystrophy, hypomyelinating, 21
Disease Hierarchy
DISVY1TT: Leukodystrophy
DIS2KO3L: Leukodystrophy, hypomyelinating, 21
Disease Identifiers
MONDO ID
MONDO_0030263
UMLS CUI
C5543334
OMIM ID
619310
MedGen ID
1778269

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
POLR3K OTZCSF6A Limited Unknown [1]
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References

1 Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation. Neurol Genet. 2018 Dec 3;4(6):e289. doi: 10.1212/NXG.0000000000000289. eCollection 2018 Dec.