Term Name: | Schindler disease type 1 |
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Synonyms: | alpha-N-acetylgalactosaminidase deficiency type 1, NAGA deficiency type 1 |
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. |
Ontology: | Human Disease [DOID:0112318] ( DOID:0112318 ) |