| Metadata | |
|---|---|
| ID | DOID:0112317 |
| Name | Schindler disease |
| Definition | A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. https://pubmed.ncbi.nlm.nih.gov/3149698/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
alpha-N-acetylgalactosaminidase deficiency [EXACT] NAGA deficiency [EXACT] |
| Parent Relationships |