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Echinobase
Summary Literature (0)
DOID:0110186 - Charcot-Marie-Tooth disease type 4D

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.

Synonyms: autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth neuropathy type 4D, CMT4D, hereditary motor abd sensory neuropathy LOM type, HMSN Lom type, HMSN-Lom, HMSN4D, hereditary motor and sensory neuropathy LOM type, HMSNL

Echinobase Genes :


MIM:
MIM:601455 - charcot-marie-tooth disease, type 4d; cmt4d

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), Charcot-Marie-Tooth disease type 4 (is_a)