ZFIN Human Disease: mitochondrial DNA depletion syndrome 12b

OBO ID: DOID:0080335

Term Name:	mitochondrial DNA depletion syndrome 12b		Search Ontology:
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. (4)
References:	GARD:1142 NCI:C129977 OMIM:615418 ORDO:1369
Ontology:	Human Disease ( DOID:0080335 )

Relationships

is a type of:	autosomal recessive disease mitochondrial DNA depletion syndrome autosomal recessive disease mitochondrial DNA depletion syndrome Show first 5 Terms

OTHER mitochondrial DNA depletion syndrome 12b PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC25A4	slc25a4	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR	615418

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None