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

OBO ID: DOID:0110185

Term Name:	Charcot-Marie-Tooth disease type 4A		Search Ontology:
Synonyms:	autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth neuropathy type 4A CMT4A
Definition:	A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. https://www.ncbi.nlm.nih.gov/pubmed/11743579
References:	ICD10CM:G60.0 MESH:C535419 OMIM:214400 ORDO:99948
Ontology:	Human Disease ( DOID:0110185 )

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 4A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GDAP1	gdap1	Charcot-Marie-Tooth disease, type 4A	214400

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None