Human Phenotype Ontology 
Grandparent Node:
expandAbnormal atrioventricular valve physiology (HP:0031650)help
Parent Node:
expandAbnormal mitral valve physiology (HP:0031481)help
..Starting node
..expandSystolic anterior motion of the mitral valve (HP:0031656)help
Term ID: 31656
Name: Systolic anterior motion of the mitral valve
Synonym:
Definition: Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.
Comments:
Reference: HP:0031656
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMitral regurgitation (HP:0001653) help
..expandMitral stenosis (HP:0001718) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031656HP:0031656Systolic anterior motion of the mitral valve0FHOD3 CL E G H8020626178OMIM:619402CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0031656HP:0031656Systolic anterior motion of the mitral valve0MYL2 CL E G H46337583OMIM:608758Cardiomyopathy, familial hypertrophic, 10131


Genes (2) :FHOD3 MYL2

Diseases (2) :OMIM:619402 OMIM:608758
 

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