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Disease Ontology Browser
Charcot-Marie-Tooth disease type 2A1 (DOID:0110154)
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Synonyms: autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1; Charcot-Marie-Tooth disease neuronal type 2A1; Charcot-Marie-Tooth neuropathy type 2A1; CMT2A1; hereditary motor and sensory neuropathy IIA1; HMSN2A1; HMSN IIA1
Alt IDs: OMIM:118210, ICD10CM:G60.0, ORDO:99946
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.

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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12/10/2024
MGI 6.24 		The Jackson Laboratory