| Term Name: | Niemann-Pick disease type A |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0070111] ( DOID:0070111 ) |