Human Gene Set: HP_AGANGLIONIC_MEGACOLON


Standard name HP_AGANGLIONIC_MEGACOLON
Systematic name M48702
Brief description Aganglionic megacolon
Full description or abstract An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. [https://orcid.org/0000-0002-0736-9199, PMID:17965226]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002251
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002251
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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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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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