ZFIN Human Disease: Charcot-Marie-Tooth disease axonal type 2C

OBO ID: DOID:0110182

Term Name:	Charcot-Marie-Tooth disease axonal type 2C		Search Ontology:
Synonyms:	autosomal cominant axonal Charcot-Marie-Tooth disease type 2C autosomal dominant Charcot-Marie-Tooth disease type 2C Charcot-Marie-Tooth neuropathy type 2C CMT2C hereditary motor and sensory neuropathy type IIc HMSN2C
Definition:	A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/20037588
References:	ICD10CM:G60.0 OMIM:606071 ORDO:99937
Ontology:	Human Disease ( DOID:0110182 )

Relationships

is a type of:	autosomal dominant disease Charcot-Marie-Tooth disease type 2 autosomal dominant disease Charcot-Marie-Tooth disease type 2 Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TRPV4	trpv4	Hereditary motor and sensory neuropathy, type IIc	606071

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None