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Standards Ontologies Notations
pontocerebellar hypoplasia

Summary
Synonym
  • PCH
Definition
A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.
Super Class
neurodegenerative disease
Disease Ontology
DOID:0060264
Mondo Disease Ontology
MeSH
UMLS
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
271 AMPD2 adenosine monophosphate deaminase 2
114034 TOE1 target of EGR1, exonuclease
Displaying 1 entry
Gene ID Gene Symbol Description Source
68276 Toe1 target of EGR1, member 1 (nuclear)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024