giant axonal neuropathy 1

Summary

DOID:0090068 - giant axonal neuropathy 1

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gan

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009749 - limb mesenchyme

MONDO:0009749 - limb mesenchyme

MIM:

MIM:256850 - GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1

MIM:256850 - GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), axonal neuropathy (is_a)