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ID DOID:0080335
Name mitochondrial DNA depletion syndrome 12b
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.
https://ghr.nlm.nih.gov/gene/SLC25A4#conditions, https://www.ncbi.nlm.nih.gov/pubmed/22187496, https://www.ncbi.nlm.nih.gov/pubmed/27693233, https://www.omim.org/entry/615418
Xrefs

GARD:1142

NCI:C129977

OMIM:615418

ORDO:1369

Subsets

DO_rare_slim

NCIthesaurus

Parent Relationships

is_a mitochondrial DNA depletion syndrome

is_a autosomal recessive disease

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