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Disease Ontology Browser
Charcot-Marie-Tooth disease type 1A (DOID:0110148)
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Synonyms: autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; Charcot-Marie-Tooth neuropathy type 1A; CMT1A; hereditary motor and sensory neuropathy 1A; HMSN1A; microduplication 17p12
Alt IDs: OMIM:118220, ICD10CM:G60.0, ORDO:101081
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).

Disease References using Mouse Models (11)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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