OBO ID: DOID:0070114
Term Name: Niemann-Pick disease type C2 Search Ontology:
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 Niemann-Pick disease type C2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NPC2 Niemann-pick disease, type C2 607625
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)
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