Human Phenotype Ontology 
Grandparent Node:
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Abnormal mitochondrial morphology (HP:0008322)help
Parent Node:
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Abnormal mitochondrial number (HP:0012102)help
..Starting node
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Increased mitochondrial number (HP:0040014)help
Term ID: 40014
Name: Increased mitochondrial number
Synonym:
Definition:
Comments:
Reference: HP:0040014
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased mitochondrial number (HP:0040013) 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:0040014HP:0040014Increased mitochondrial number0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0040014HP:0040014Increased mitochondrial number0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0040014HP:0040014Increased mitochondrial number0PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19


Genes (3) :CHCHD10 GYG1 PET117

Diseases (3) :ORPHA:457050 ORPHA:263297 OMIM:619063
 

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