Human Phenotype Ontology 
Grandparent Node:
expandAbnormal myocardium morphology (HP:0001637)help
Parent Node:
expandCardiomyopathy (HP:0001638)help
..Starting node
..expandHistiocytoid cardiomyopathy (HP:0005152)help
Term ID: 5152
Name: Histiocytoid cardiomyopathy
Synonym: Arachnocytosis of the myocardium; Foamy myocardial transformation; Focal lipid cardiomyopathy; Infantile cardiomyopathy with histiocytoid changes; Infantile xanthomatous cardiomyopathy; Isolated cardiac lipidosis; Myocardial or conduction system hamartoma; Oncocytic cardiomyopathy
Definition: A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.
Comments:
Reference: HP:0005152
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAtrial cardiomyopathy (HP:0200127) help
..expandDilated cardiomyopathy (HP:0001644) help
..expandHypertrophic cardiomyopathy (HP:0001639) help
..expandNoncompaction cardiomyopathy (HP:0012817) help
..expandRestrictive cardiomyopathy (HP:0001723) help
..expandRight ventricular cardiomyopathy (HP:0011663) help
..expandTakotsubo cardiomyopathy (HP:0011665) 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:0005152HP:0005152Histiocytoid cardiomyopathy0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0005152HP:0005152Histiocytoid cardiomyopathy0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 7.11
HP:0005152HP:0005152Histiocytoid cardiomyopathy0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 7.3


Genes (3) :COX7B HCCS NDUFB11

Diseases (1) :OMIM:309801
 

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