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Human Disease

mitochondrial DNA depletion syndrome 12b

Term ID
DOID:0080335
Synonyms
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. (3)
References
Ontology
Human Disease   ( DOID:0080335 )
Relationships
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Genes Involved
Zebrafish Models