Charcot-Marie-Tooth disease type 4D

Summary

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, hereditary motor and sensory neuropathy LOM type,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ndrg1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011085 - Charcot-Marie-Tooth disease type 4D

MONDO:0011085 - Charcot-Marie-Tooth disease type 4D

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 4 (is_a), autosomal recessive disease (is_a)