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Disease Ontology Browser
Charcot-Marie-tooth disease axonal type 2LL (DOID:0070839)
Alliance: disease page
Synonyms: CMT2LL
Alt IDs: OMIM:621485, UMLS_CUI:C6065954
Definition: A Charcot-Marie-Tooth disease type 2 characterized by childhood-onset progressive gait difficulties, distal muscle weakness and atrophy, and areflexia that has_material_basis_in compound heterozygous mutation in the DARS2 gene, encoding mitochondrial aspartyl-tRNA synthetase, on chromosome 1q25.

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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Send questions and comments to User Support. 		last database update
09/08/2026
MGI 6.24 		The Jackson Laboratory