Details of Disease

General Information of Disease (ID: DIS9SOSA)

Disease Name Pontocerebellar hypoplasia, type 15
Synonyms PCH15; pontocerebellar hypoplasia, type 15
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DIS9SOSA: Pontocerebellar hypoplasia, type 15
Disease Identifiers
MONDO ID
MONDO_0030259
UMLS CUI
C5543326
OMIM ID
619302
MedGen ID
1781311

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
CDC40 OTOYUNHN Limited Unknown [1]
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References

1 Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 Jan 20;109(2):241-256.e9. doi: 10.1016/j.neuron.2020.10.035. Epub 2020 Nov 20.