Human Gene Set: HP_CEREBELLAR_ATROPHY


Standard name HP_CEREBELLAR_ATROPHY
Systematic name M35204
Brief description Cerebellar atrophy
Full description or abstract Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. [https://orcid.org/0000-0002-0736-9199, PMID:12169461, PMID:26331051]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001272
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001272
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
Dataset references  
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GTEx compendium
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NCI-60 cell lines (National Cancer Institute)
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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