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Disease Ontology Browser
Charcot-Marie-Tooth disease type 2B1 (DOID:0110156)
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Synonyms: autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1; autosomal recessive axonal CMT4C1; autosomal recessive Charcot-Marie-Tooth disease type 2B1; Charcot-Marie-Tooth disease neuronal type 2B1; Charcot-Marie-Tooth neuropathy type 2B1; CMT2B1
Alt IDs: OMIM:605588, ICD10CM:G60.0, MESH:C537990, ORDO:98856
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.

Disease References using Mouse Models (1)
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
12/10/2024
MGI 6.24 		The Jackson Laboratory