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Disease Ontology Browser
Charcot-Marie-Tooth disease axonal type 2Q (DOID:0110170)
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Synonyms: autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q; autosomal dominant Charcot-Marie-Tooth disease type 2Q; Charcot-Marie-Tooth neuropathy type 2Q; CMT2Q
Alt IDs: OMIM:615025, ICD10CM:G60.0, ORDO:329258
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.

Disease References using Mouse Models (2)
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