FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Schindler disease ID (Ontology) DOID:0112317 (Human Disease)
Definition A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.
Also Known As "alpha-N-acetylgalactosaminidase deficiency" ; "NAGA deficiency"
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
inherited metabolic disorder     |
 |__lysosomal storage disease____|
                                 Schindler disease  2 rec.
                                  |__Kanzaki disease 2 rec.
                                  |__Schindler disease type 1 2 rec.
                                  |__Schindler disease type 3
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Is a autosomal recessive disease
lysosomal storage disease
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Synonyms
  • "alpha-N-acetylgalactosaminidase deficiency" EXACT
    "NAGA deficiency" EXACT
Secondary IDs
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ORDO:3137