Human Gene Set: HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT


Standard name HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT
Systematic name M41420
Brief description Muscular ventricular septal defect
Full description or abstract The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. [HPO_CONTRIBUTOR:DDD_dbrown, PMID:17101870]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0011623
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0011623
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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 2023.1.Hs: Updated to HPO Release 2023-01-27.

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