FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Kanzaki disease ID (Ontology) DOID:0112319 (Human 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.
Also Known As "adult-onset alpha-N-acetylgalactosaminidase deficiency" ; "alpha-N-acetylgalactosaminidase deficiency type 2" ; "NAGA deficiency type 2"
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 Genes
 Kanzaki disease       2
 for disease ribbon | Kanzaki disease       2
 model of | Kanzaki disease       2
Spanning Tree (Parents/Children)
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autosomal recessive disease__
lysosomal storage disease____|
                             Schindler disease
                              |__Kanzaki disease  2 rec.
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Is a Schindler disease
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Synonyms
  • "adult-onset alpha-N-acetylgalactosaminidase deficiency" EXACT
    "alpha-N-acetylgalactosaminidase deficiency type 2" EXACT
    "NAGA deficiency type 2" EXACT
Secondary IDs
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GARD:9161
MIM:609242
ORDO:79280