| Metadata | |
|---|---|
| ID | DOID:0112319 |
| Name | Kanzaki disease |
| 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. https://pubmed.ncbi.nlm.nih.gov/2564952/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
adult-onset alpha-N-acetylgalactosaminidase deficiency [EXACT] alpha-N-acetylgalactosaminidase deficiency type 2 [EXACT] NAGA deficiency type 2 [EXACT] |
| Parent Relationships |
is_a Schindler disease |