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Summary Literature (0)
DOID:0110150 - Charcot-Marie-Tooth disease type 1D


Disease Ontology Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).

Synonyms: CMT1D, Charcot-Marie-Tooth neuropathy type 1D, HMSN ID, HMSN1D, hereditary motor and sensory neuropathy 1D

In OMIM:
OMIM:607678 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D

In Mondo Disease Ontology:
MONDO:0011890 - Charcot-Marie-Tooth disease type 1D

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : egr2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Charcot-Marie-Tooth disease type 1 (is_a)