mitochondrial DNA depletion syndrome
Information
- Disease name
- mitochondrial DNA depletion syndrome
- Disease ID
- DOID:0070329
- Description
- "A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs." [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579, url:https\://www.ncbi.nlm.nih.gov/pubmed/29344903, url:https\://www.ncbi.nlm.nih.gov/pubmed/29950321, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=35698]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:700
- Cross Reference ID (Disease Ontology)
- GARD:13643
- Cross Reference ID (Disease Ontology)
- MIM:PS603041
- Cross Reference ID (Disease Ontology)
- ORDO:35698
- Exact Synonym (Disease Ontology)
- mtDNA depletion syndrome
- OMIM Phenotype Series Number (OMIM)
- PS603041
- OrphaNumber from OrphaNet (Orphanet)
- 35698
- MedGen concept unique identifier (MedGen Concept name)
- C0342782
- MedGen unique identifier (MedGen Concept name)
- 452449