Human Gene Set: HP_SUPRAVALVULAR_AORTIC_STENOSIS


Standard name HP_SUPRAVALVULAR_AORTIC_STENOSIS
Systematic name M36501
Brief description Supravalvular aortic stenosis
Full description or abstract A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0004381
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0004381
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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 2025.1.Hs: Updated to HPO Release 2025-05-06.

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