FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Schindler disease type 1 ID (Ontology) DOID:0112318 (Human Disease)
Definition A Schindler disease characterized by infantile onset of neuroaxonal dystrophy 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 type 1" ; "NAGA deficiency type 1"
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 Genes
 Schindler disease type 1       2
 for disease ribbon | Schindler disease type 1       2
 model of | Schindler disease type 1       2
Spanning Tree (Parents/Children)
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autosomal recessive disease__
lysosomal storage disease____|
                             Schindler disease
                              |__Schindler disease type 1  2 rec.
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Synonyms
  • "alpha-N-acetylgalactosaminidase deficiency type 1" EXACT
    "NAGA deficiency type 1" EXACT
Secondary IDs
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GARD:116
MIM:609241
ORDO:79279