ZFIN Human Disease: Charcot-Marie-Tooth disease dominant intermediate C

OBO ID: DOID:0110199

Term Name:	Charcot-Marie-Tooth disease dominant intermediate C		Search Ontology:
Synonyms:	autosomal dominant intermediate Charcot-Marie-Tooth disease type C Charcot-Marie-Tooth neuropathy dominant intermediate C CMTDIC DI-CMTC
Definition:	A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. https://www.ncbi.nlm.nih.gov/pubmed/16429158
References:	ICD10CM:G60.0 MESH:C564257 OMIM:608323 ORDO:100045
Ontology:	Human Disease ( DOID:0110199 )

Relationships

is a type of:	autosomal dominant disease Charcot-Marie-Tooth disease intermediate type autosomal dominant disease Charcot-Marie-Tooth disease intermediate type Show first 5 Terms

OTHER Charcot-Marie-Tooth disease dominant intermediate C PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
YARS	yars1	Charcot-Marie-Tooth disease, dominant intermediate C	608323

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None