Details of Disease

General Information of Disease (ID: DIS1DDS3)

Disease Name Pontocerebellar hypoplasia, type 1D
Synonyms PCH1D; pontocerebellar hypoplasia, type 1D
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DIS1DDS3: Pontocerebellar hypoplasia, type 1D
Disease Identifiers
MONDO ID
MONDO_0054844
UMLS CUI
C4748058
OMIM ID
618065
MedGen ID
1648387

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
EXOSC9 OTFKB37F Strong Autosomal recessive [1]
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References

1 Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.