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combined oxidative phosphorylation defect type 2
Disease Summary
Associated Targets (2)
Tbio
1
Tdark
1
Mondo Description Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.
Uniprot Description A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum.
Mondo Term and Equivalent IDs
MONDO:0012510: combined oxidative phosphorylation defect type 2
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111483
MESH:C566468
OMIM:610498
Orphanet:254920
SCTID:764943000
UMLS:C1864843
MONDO:0012510
High level summary of knowledge for a disease, including descriptions and datasource references.