Term Name: | Schindler disease |
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Synonyms: | alpha-N-acetylgalactosaminidase deficiency, NAGA deficiency |
Definition: | A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. |
Ontology: | Human Disease [DOID:0112317] ( DOID:0112317 ) |