ZFIN Human Disease: Charcot-Marie-Tooth disease type 4D

OBO ID: DOID:0110186

Term Name:	Charcot-Marie-Tooth disease type 4D		Search Ontology:
Synonyms:	autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth neuropathy type 4D CMT4D hereditary motor and sensory neuropathy LOM type HMSN Lom type HMSN-Lom HMSN4D HMSNL
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. https://www.ncbi.nlm.nih.gov/pubmed/10831399
References:	ICD10CM:G60.0 OMIM:601455 ORDO:99950
Ontology:	Human Disease ( DOID:0110186 )

Relationships

is a type of:	autosomal recessive disease Charcot-Marie-Tooth disease type 4 autosomal recessive disease Charcot-Marie-Tooth disease type 4 Show first 5 Terms

OTHER Charcot-Marie-Tooth disease type 4D PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDRG1	ndrg1a ndrg1b	Charcot-Marie-Tooth disease, type 4D	601455

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None