Human Gene Set: HP_CHIARI_MALFORMATION


Standard name HP_CHIARI_MALFORMATION
Systematic name M35761
Brief description Chiari malformation
Full description or abstract Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. [https://orcid.org/0000-0002-0736-9199, PMID:28613730]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002308
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002308
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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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