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Summary Literature (0)
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: adult-onset alpha-N-acetylgalactosaminidase deficiency, alpha-N-acetylgalactosaminidase deficiency type 2, NAGA deficiency type 2

Xenbase Genes : naga


MIM:
MIM:609242 - KANZAKI DISEASE

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Schindler disease (is_a)