| Metadata | |
|---|---|
| ID | DOID:0112318 |
| Name | Schindler disease 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. https://pubmed.ncbi.nlm.nih.gov/2889023/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
alpha-N-acetylgalactosaminidase deficiency type 1 [EXACT] NAGA deficiency type 1 [EXACT] |
| Parent Relationships |
is_a Schindler disease |