giant axonal neuropathy 2

Summary

DOID:0090069 - giant axonal neuropathy 2

Disease Ontology Definition:An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23.

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

: dcaf8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012411 - giant axonal neuropathy 2

MONDO:0012411 - giant axonal neuropathy 2

MIM:

MIM:610100 - GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT; GAN2

MIM:610100 - GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT; GAN2

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

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

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