Search Ontology:
Human Disease

Niemann-Pick disease type C1

Term ID
DOID:0070113
Synonyms
  • NPC1
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
References
Ontology
Human Disease   ( DOID:0070113 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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