| Metadata | |
|---|---|
| ID | DOID:0070114 |
| Name | Niemann-Pick disease type C2 |
| Definition | A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/17470133 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
NPC2 [EXACT] |
| Parent Relationships |
is_a Niemann-Pick disease |