Human Gene Set: HP_ENCEPHALOCELE


Standard name HP_ENCEPHALOCELE
Systematic name M48701
Brief description Encephalocele
Full description or abstract A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002084
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002084
Filtered by similarity ? (show 1 similar ontology term(s) from the external resource)
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
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
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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