Term Name: Kanzaki disease
Synonyms: adult-onset alpha-N-acetylgalactosaminidase deficiency, alpha-N-acetylgalactosaminidase deficiency type 2, NAGA deficiency type 2
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.
Ontology: Human Disease [DOID:0112319]   ( DOID:0112319 )

Relationships
is a type of: Schindler disease