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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Niemann-Pick disease type A +   
Niemann-Pick disease type B +   
A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (DO)
Niemann-Pick disease type C1  
Niemann-Pick disease type C2  
Niemann-Pick Disease Type D  

Synonyms
Exact Synonyms: Niemann Pick Disease, Non Neuronopathic Type ;   Niemann Pick disease, adult non neuronopathic ;   Niemann Pick disease, visceral ;   Niemann Pick's disease type B ;   acid sphingomyelinase deficiency, visceral type ;   sphingomyelin/cholesterol lipidosis
Narrow Synonyms: NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION ;   Niemann Pick's disease type E ;   Niemann-Pick disease, type E ;   Niemann-Pick disease, type F
Broad Synonyms: SMPD1-RELATED CONDITION
Primary IDs: MESH:D052537
Alternate IDs: MESH:C564366 ;   MIM:607616
Xrefs: GARD:10729 ;   NCI:C126866
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12369017 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/13696518 "DO" "DO"

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