Search Ontology:
Human Disease

Niemann-Pick disease type C2

Term ID
DOID:0070114
Synonyms
  • NPC2
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
References
Ontology
Human Disease   ( DOID:0070114 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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