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Charcot-Marie-Tooth disease axonal type 2S
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.
Uniprot Description An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Disease Ontology Description A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
Mondo Term and Equivalent IDs
MONDO:0014511: Charcot-Marie-Tooth disease axonal type 2S
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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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110171
OMIM:616155
Orphanet:443073
UMLS:C4015349
MONDO:0014511
High level summary of knowledge for a disease, including descriptions and datasource references.