| Metadata | |
|---|---|
| ID | DOID:0070111 |
| Name | Niemann-Pick disease type A |
| Definition | A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. https://www.ncbi.nlm.nih.gov/pubmed/13696518, https://www.ncbi.nlm.nih.gov/pubmed/19405096 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a Niemann-Pick disease |