ZFIN Human Disease: giant axonal neuropathy 1

OBO ID: DOID:0090068

Term Name:	giant axonal neuropathy 1		Search Ontology:
Synonyms:
Definition:	An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. (3)
References:	MESH:D056768 OMIM:256850 ORDO:643
Ontology:	Human Disease ( DOID:0090068 )

Relationships

is a type of:	autosomal recessive disease axonal neuropathy autosomal recessive disease axonal neuropathy Show first 5 Terms

OTHER giant axonal neuropathy 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GAN	gan	Giant axonal neuropathy-1	256850

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)