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severe X-linked mitochondrial encephalomyopathy
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
Uniprot Description A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy.
Mondo Term and Equivalent IDs
MONDO:0010437: severe X-linked mitochondrial encephalomyopathy
Download Data for severe X-linked mitochondrial encephalomyopathy
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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:0111502
OMIM:300816
Orphanet:238329
SCTID:722212004
UMLS:C3151753
UMLS:C4302745
MONDO:0010437
High level summary of knowledge for a disease, including descriptions and datasource references.