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

OBO ID: DOID:0110198

Term Name:	Charcot-Marie-Tooth disease recessive intermediate C		Search Ontology:
Synonyms:	autosomal recessive intermediate Charcot-Marie-Tooth disease type C CMTRIC RI-CMT type C RI-CMTC
Definition:	A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/23777631
References:	ICD10CM:G60.0 OMIM:615376 ORDO:369867
Ontology:	Human Disease ( DOID:0110198 )

Relationships

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

OTHER Charcot-Marie-Tooth disease recessive intermediate C PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PLEKHG5	plekhg5a plekhg5b	Charcot-Marie-Tooth disease, recessive intermediate C	615376

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None