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Disease Ontology Browser
Charcot-Marie-Tooth disease axonal type 2N (DOID:0110177)
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Synonyms: autosomal dominant axonal Charcot-Marie-Tooth disease type 2N; autosomal dominant Charcot-Marie-Tooth disease type 2N; Charcot-Marie-Tooth neuropathy axonal type 2N; CMT2N
Alt IDs: OMIM:613287, ICD10CM:G60.0, ORDO:228174
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.


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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last database update
01/31/2023
MGI 6.22
The Jackson Laboratory