|
DOID:0112319 - Kanzaki disease
Disease Ontology Definition:A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13.
Synonyms: NAGA deficiency type 2, adult-onset alpha-N-acetylgalactosaminidase deficiency, alpha-N-acetylgalactosaminidase deficiency type 2,
Xenbase Genes
:
naga
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Schindler disease (is_a)