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mitochondrial DNA depletion syndrome 12b
Summary
- Definition
- A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.
- Super Class
- autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0080335
- Mondo Disease Ontology
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75390 | Citrate synthase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000512 | Abnormal electroretinogram |
| HP:0000501 | Glaucoma |
| HP:0001131 | Corneal dystrophy |
| HP:0000486 | Strabismus |
| HP:0003128 | Lactic acidosis |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0003198 | Myopathy |
| HP:0000639 | Nystagmus |
| HP:0000518 | Cataract |
| HP:0000545 | Myopia |
