Human Gene Set: HP_ANTERIOR_ENCEPHALOCELE


Standard name HP_ANTERIOR_ENCEPHALOCELE
Systematic name M49886
Brief description Anterior encephalocele
Full description or abstract A type of congenital malformation in which brain tissue protrudes through a defect in the anterior (front) part of the skull. [PMID:22069427, PMID:32965839]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0007035
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0007035
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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 2025.1.Hs: Updated to HPO Release 2025-05-06.

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