Term Name: | Kanzaki disease |
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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 ) |