Charcot-Marie-tooth disease axonal type 2II Disease Ontology Browser

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Charcot-Marie-tooth disease axonal type 2II (DOID:0070838)
Alliance: disease page
Synonyms: CMT2II
Alt IDs: OMIM:620068, UMLS_CUI:C5774227
Definition: A Charcot-Marie-Tooth disease type 2 characterized by a slowly progressive sensorimotor peripheral neuropathy affecting mainly the lower limbs, resulting in distal muscle weakness and atrophy and subsequent walking difficulties, that has_material_basis_in heterozygous mutation in the SLC12A6 gene on chromosome 15q13.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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