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Echinobase
Summary Literature (0)
DOID:0110167 - Charcot-Marie-Tooth disease axonal type 2K


Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.

Synonyms: ARCMT2K, Charcot-Marie-Tooth neuropathy axonal type 2K, autosomal recessive Charcot-Marie-Tooth disease with hoarseness, autosomal recessive axonal CMT4C4, autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K, autosomal recessive axonal Charcot-Marie-Tooth disease type 2K

Echinobase Genes :


OMIM:
OMIM:607831 - charcot-marie-tooth disease, axonal, type 2k; cmt2k

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Charcot-Marie-Tooth disease type 2 (is_a)