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peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Disease Summary
Associated Targets (1)
Tchem
1
Uniprot Description A complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles.
Mondo Term and Equivalent IDs
MONDO:0013711: peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614369
Orphanet:397744
UMLS:C3280556
MONDO:0013711
High level summary of knowledge for a disease, including descriptions and datasource references.