Human Gene Set: HP_CEREBELLAR_DYSPLASIA


Standard name HP_CEREBELLAR_DYSPLASIA
Systematic name M36979
Brief description Cerebellar dysplasia
Full description or abstract Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. [https://orcid.org/0000-0002-0736-9199, PMID:25105227, PMID:27160001]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0007033
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0007033
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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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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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