A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. [ url:https://www.ncbi.nlm.nih.gov/pubmed/11182931 http://purl.obolibrary.org/obo/ECO_0007645 ]
Synonyms: NPC1
This is just here as a test because I lose it