Human Phenotype Ontology 
Grandparent Node:
expandAbnormal mitochondrial morphology (HP:0008322)help
Parent Node:
expandAbnormal mitochondrial shape (HP:0012087)help
..Starting node
..expandMitochondrial swelling (HP:0030774)help
Term ID: 30774
Name: Mitochondrial swelling
Synonym:
Definition: The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.
Comments:
Reference: HP:0030774
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:0030774HP:0030774Mitochondrial swelling0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0030774HP:0030774Mitochondrial swelling0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040282 - Frequent227


Genes (2) :LYRM4 MYH14

Diseases (2) :OMIM:615595 ORPHA:397744
 

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