Search Ontology:
Human Disease
mitochondrial DNA depletion syndrome 12b
- Term ID
- DOID:0080335
- Synonyms
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- 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. (4)
- References
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- GARD:1142
- MIM:615418
- NCI:C129977
- ORDO:1369
- Ontology
- Human Disease ( DOID:0080335 )
- is a type of
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Genes Involved
Zebrafish Models