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

In OMIM:
OMIM:601455 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D

In Mondo Disease Ontology:
MONDO:0011085 - Charcot-Marie-Tooth disease type 4D

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

Xenbase Genes : ndrg1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Charcot-Marie-Tooth disease type 4 (is_a)