OBO ID: DOID:0070113
Term Name: Niemann-Pick disease type C1 Search Ontology:
Synonyms:
  • NPC1
Definition: A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2.https://www.ncbi.nlm.nih.gov/pubmed/11182931
References:
Ontology: Human Disease   (DOID:0070113)
Relationships
is a type of:
OTHER Niemann-Pick disease type C1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NPC1 Niemann-Pick disease, type C1 257220
Niemann-Pick disease, type D 257220
PHENOTYPE No data available

CITATIONS (2)