Human Phenotype Ontology 
..Starting node
..expandSubaortic ventricular septal bulge (HP:0031971)help
Term ID: 31971
Name: Subaortic ventricular septal bulge
Synonym:
Definition: A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.
Comments:
Reference: HP:0031971
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031971HP:0031971Subaortic ventricular septal bulge0ACTC1 CL E G H70143OMIM:612098Cardiomyopathy, familial hypertrophic, 11208


Genes (1) :ACTC1

Diseases (1) :OMIM:612098
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.