Human Gene Set: HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT


Standard name HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT
Systematic name M35390
Brief description Complete atrioventricular canal defect
Full description or abstract A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:16722604]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001674
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001674
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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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Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
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Version history 2026.2.Hs: Updated to HPO Release 2026-09-01.


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