Human Phenotype Ontology 
Grandparent Node:
expand
Muscle abnormality related to mitochondrial dysfunction (HP:0003800)help
Parent Node:
expand
Depletion of mitochondrial DNA in muscle tissue (HP:0009141)help
..Starting node
..expand
Multiple mitochondrial DNA deletions (HP:0003689)help
Term ID: 3689
Name: Multiple mitochondrial DNA deletions
Synonym: Multiple mtDNA deletions
Definition: The presence of multiple deletions of mitochondrial DNA (mtDNA).
Comments:
Reference: HP:0003689
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:0003689HP:0003689Multiple mitochondrial DNA deletions0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0003689HP:0003689Multiple mitochondrial DNA deletions0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0003689HP:0003689Multiple mitochondrial DNA deletions0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0003689HP:0003689Multiple mitochondrial DNA deletions0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003689HP:0003689Multiple mitochondrial DNA deletions0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0003689HP:0003689Multiple mitochondrial DNA deletions0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0003689HP:0003689Multiple mitochondrial DNA deletions0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0003689HP:0003689Multiple mitochondrial DNA deletions0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5.125
HP:0003689HP:0003689Multiple mitochondrial DNA deletions0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0003689HP:0003689Multiple mitochondrial DNA deletions0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0003689HP:0003689Multiple mitochondrial DNA deletions0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0003689HP:0003689Multiple mitochondrial DNA deletions0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113


Genes (7) :LIG3 MGME1 POLG POLG2 RRM2B SLC25A4 TWNK

Diseases (11) :OMIM:619780 OMIM:615084 OMIM:613662 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:610131 OMIM:613077 OMIM:615418 OMIM:609283 OMIM:609286
 

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