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

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Disease Ontology Browser

Charcot-Marie-tooth disease axonal type 2MM (DOID:0070840)
Alliance: disease page
Synonyms: CMT2MM
Alt IDs: OMIM:621488, UMLS_CUI:C6065956
Definition: A Charcot-Marie-Tooth disease type 2 characterized by progressive sensorimotor polyneuropathy with age of onset between the first and fifth decade that has_material_basis_in homozygous or compound heterozygous mutation in the COX18 gene on chromosome 4q13.

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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