Kanzaki disease (DOID:0112319)
Alliance: disease page
Synonyms: adult-onset alpha-N-acetylgalactosaminidase deficiency; alpha-N-acetylgalactosaminidase deficiency type 2; NAGA deficiency type 2
Alt IDs: OMIM:609242, ORDO:79280
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.