| Metadata | |
|---|---|
| ID | DOID:0112320 |
| PURL | http://purl.obolibrary.org/obo/DOID_0112320 Copy |
| Name | Schindler disease type 3 |
| Definition | A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. https://pubmed.ncbi.nlm.nih.gov/8071745/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
alpha-N-acetylgalactosaminidase deficiency type 3 [EXACT] NAGA deficiency type 3 [EXACT] |
| Parent Relationships |
is_a Schindler disease |