Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Niemann-Pick disease type B
go back to main search page
Accession:DOID:0070112 term browser browse the term
Definition: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)
Synonyms:exact_synonym: 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_synonym: 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_synonym: SMPD1-RELATED CONDITION
 primary_id: MESH:D052537
 alt_id: MESH:C564366;   MIM:607616
 xref: GARD:10729;   NCI:C126866


show annotations for term's descendants           Sort by:
Niemann-Pick disease type B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBB1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chr11:6,526,477...6,550,509
Ensembl chr11:6,209,812...6,225,972 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis OMIM
ClinVar		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr11:6,521,812...6,526,349 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15830
    Nutritional and Metabolic Diseases 7504
      disease of metabolism 7504
        lipid metabolism disorder 1737
          lipid storage disease 808
            sphingolipidosis 152
              Niemann-Pick disease 26
                Niemann-Pick disease type B 4
                  Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression 0
Path 2
Term Annotations click to browse term
  disease 15830
    disease of anatomical entity 15487
      nervous system disease 13581
        central nervous system disease 12144
          brain disease 11409
            Metabolic Brain Diseases 1535
              Metabolic Brain Diseases, Inborn 1398
                Lysosomal Storage Diseases, Nervous System 184
                  sphingolipidosis 152
                    Niemann-Pick disease 26
                      Niemann-Pick disease type B 4
                        Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression 0
paths to the root