Human Phenotype Ontology 
..Starting node
..expandApical hypertrophic cardiomyopathy (HP:0031992)help
Term ID: 31992
Name: Apical hypertrophic cardiomyopathy
Synonym:
Definition: Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.
Comments:
Reference: HP:0031992
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:0031992HP:0031992Apical hypertrophic cardiomyopathy0FHOD3 CL E G H8020626178OMIM:619402CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0031992HP:0031992Apical hypertrophic cardiomyopathy0TNNI3 CL E G H713711947OMIM:613690Cardiomyopathy, familial hypertrophic, 7180
HP:0031992HP:0031992Apical hypertrophic cardiomyopathy0VCL CL E G H741412665OMIM:613255Cardiomyopathy, familial hypertrophic, 15248


Genes (3) :FHOD3 TNNI3 VCL

Diseases (3) :OMIM:619402 OMIM:613690 OMIM:613255
 

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