Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the mitochondrion (HP:0012103)help
Parent Node:
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Abnormality of mitochondrial metabolism (HP:0003287)help
..Starting node
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Mitochondrial depletion (HP:0030059)help
Term ID: 30059
Name: Mitochondrial depletion
Synonym:
Definition: An abnormal reduction in mitochondrial DNA content of cells.
Comments:
Reference: HP:0030059
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand3-Methylglutaconic aciduria (HP:0003535) help
..expandAbnormal activity of mitochondrial respiratory chain (HP:0011922) help
..expandAbnormal iron deposition in mitochondria (HP:0008306) help
..expandAbnormal mitochondria in muscle tissue (HP:0008316) help
..expandDecreased activity of 3-hydroxyacyl-CoA dehydrogenase (HP:0100950) help
..expandDecreased activity of the pyruvate dehydrogenase complex (HP:0002928) help
..expandDecreased plasma carnitine (HP:0003234) help
..expandDeficiency or absence of cytochrome b(-245) (HP:0003514) help
..expandElectron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647) help
..expandMitochondrial lysine transport defect (HP:0008265) help
..expandMitochondrial malic enzyme reduced (HP:0003232) help
..expandMitochondrial propionyl-CoA carboxylase defect (HP:0003288) help
..expandMitochondrial respiratory chain defects (HP:0200125) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0030059HP:0030059Mitochondrial depletion0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132120117720161650
HP:0030059HP:0030059Mitochondrial depletion0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM13461211212403188840
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :NEB TTN

Diseases (2) :256030 611705
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.