Human Gene Set: HP_PERIVENTRICULAR_HETEROTOPIA


Standard name HP_PERIVENTRICULAR_HETEROTOPIA
Systematic name M37008
Brief description Periventricular heterotopia
Full description or abstract A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. [https://orcid.org/0000-0002-0736-9199, PMID:22427329]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0007165
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0007165
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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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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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