OBO ID: DOID:0070113 |
Term Name: | Niemann-Pick disease type C1 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0070113 ) |
OTHER Niemann-Pick disease type C1 PAGES
ZEBRAFISH MODELS
PHENOTYPE
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CITATIONS (4)
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