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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
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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


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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 chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627 		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 chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis		 OMIM
CTD
ClinVar		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Nutritional and Metabolic Diseases 8523
      disease of metabolism 8523
        lipid metabolism disorder 1906
          lipid storage disease 856
            sphingolipidosis 154
              Niemann-Pick disease 27
                Niemann-Pick disease type B 3
                  Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression 0
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        central nervous system disease 12591
          brain disease 11816
            Metabolic Brain Diseases 1522
              Metabolic Brain Diseases, Inborn 1387
                Lysosomal Storage Diseases, Nervous System 185
                  sphingolipidosis 154
                    Niemann-Pick disease 27
                      Niemann-Pick disease type B 3
                        Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression 0
paths to the root