Human Gene Set: HP_FOCAL_CORTICAL_DYSPLASIA


Standard name HP_FOCAL_CORTICAL_DYSPLASIA
Systematic name M38521
Brief description Focal cortical dysplasia
Full description or abstract A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. [PMID:12707084]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0032046
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0032046
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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
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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