Human Phenotype Ontology 
Grandparent Node:
expandAbnormal cardiovascular system physiology (HP:0011025)help
Parent Node:
expandAbnormal heart sound (HP:0031657)help
..Starting node
..expandAbnormal second heart sound (HP:0031661)help
Term ID: 31661
Name: Abnormal second heart sound
Synonym:
Definition: Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.
Comments:
Reference: HP:0031661
Genes and Diseases:
 
       Child Nodes:
........expandFixed splitting of the second heart sound (HP:0031662) help
........expandParadoxical splitting of the second heart sound (HP:0031663) help
........expandAbnormally loud pulmonic component of the second heart sound (HP:0031687) help

 Sister Nodes: 
..expandFourth heart sound (HP:0031659) help
..expandHeart murmur (HP:0030148) help
..expandLoud first heart sound (HP:0031660) help
..expandThird heart sound (HP:0031658) 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:0031661HP:0031661Abnormal second heart sound0BMPR2 CL E G H6591078OMIM:265450PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1525
HP:0031661HP:0031661Abnormal second heart sound0CITED2 CL E G H103701987ORPHA:99105Atrial septal defect, sinus venosus type5
HP:0031661HP:0031661Abnormal second heart sound0SMAD9 CL E G H40936774OMIM:615342Pulmonary hypertension, primary, 2132
HP:0031661HP:0031661Abnormal second heart sound0TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum type6
HP:0031661HP:0031687Abnormally loud pulmonic component of the second heart sound1BMPR2 CL E G H6591078OMIM:265450PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1525
HP:0031661HP:0031663Paradoxical splitting of the second heart sound1CITED2 CL E G H103701987ORPHA:99105Atrial septal defect, sinus venosus typeHP:0040282 - Frequent5
HP:0031661HP:0031687Abnormally loud pulmonic component of the second heart sound1SMAD9 CL E G H40936774OMIM:615342Pulmonary hypertension, primary, 2132
HP:0031661HP:0031662Fixed splitting of the second heart sound1TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040282 - Frequent6
HP:0031661HP:0031687Abnormally loud pulmonic component of the second heart sound1TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040282 - Frequent6


Genes (4) :BMPR2 CITED2 SMAD9 TLL1

Diseases (4) :OMIM:265450 ORPHA:99105 OMIM:615342 ORPHA:99106
 

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