Human Gene Set: HP_OCCIPITAL_ENCEPHALOCELE


Standard name HP_OCCIPITAL_ENCEPHALOCELE
Systematic name M35631
Brief description Occipital encephalocele
Full description or abstract A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002085
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002085
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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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