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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Niemann-Pick disease type A +   
Niemann-Pick disease type B +   
Niemann-Pick disease type C1  
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. (DO)
Niemann-Pick disease type C2  
Niemann-Pick Disease Type D  

Synonyms
Exact Synonyms: NPC1 ;   Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia ;   Niemann Pick Disease, Chronic Neuronopathic Form ;   Niemann Pick disease, Subacute Juvenile Form ;   Niemann-Pick disease type C1, adult form ;   Niemann-Pick disease type C1, juvenile form ;   Niemann-Pick disease with cholesterol esterification block ;   Niemann-Pick disease without sphingomyelinase deficiency
Narrow Synonyms: NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D
Broad Synonyms: NPC ;   NPC1-RELATED CONDITION ;   Niemann-Pick disease, type C ;   Niemann-Pick's disease type C
Primary IDs: MESH:D052556
Alternate IDs: MIM:257220
Xrefs: GARD:7207 ;   NCI:C126864
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11182931 "DO" "DO"

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