Charcot-Marie-Tooth disease type 1D Disease Ontology Browser

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Disease Ontology Browser

Charcot-Marie-Tooth disease type 1D (DOID:0110150)
Alliance: disease page
Synonyms: Charcot-Marie-Tooth neuropathy type 1D; CMT1D; hereditary motor and sensory neuropathy 1D; HMSN1D; HMSN ID
Alt IDs: OMIM:607678, ICD10CM:G60.0, MESH:C537985, ORDO:101084
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).

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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