| Metadata | |
|---|---|
| ID | DOID:0070113 |
| Name | Niemann-Pick disease type C1 |
| Definition | A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. https://www.ncbi.nlm.nih.gov/pubmed/11182931 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
NPC1 [EXACT] |
| Parent Relationships |
is_a Niemann-Pick disease |
| Subclass Logical Relationships |
disease has basis in some structural_variant |