Human Gene Set: HP_RESTRICTIVE_CARDIOMYOPATHY


Standard name HP_RESTRICTIVE_CARDIOMYOPATHY
Systematic name M35415
Brief description Restrictive cardiomyopathy
Full description or abstract Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. [https://orcid.org/0000-0002-0736-9199, PMID:17916581]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001723
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001723
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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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