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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 chrNW_004955414:22,121,867...22,137,849
Ensembl chrNW_004955414:22,117,470...22,137,849 		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 chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chrNW_004955523:1,010,976...1,021,048
Ensembl chrNW_004955523:1,010,976...1,021,144 		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 chrNW_004955414:22,117,929...22,121,744
Ensembl chrNW_004955414:22,117,930...22,121,744 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    Nutritional and Metabolic Diseases 6993
      disease of metabolism 6993
        lipid metabolism disorder 1629
          lipid storage disease 757
            sphingolipidosis 146
              Niemann-Pick disease 23
                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 14337
    disease of anatomical entity 14030
      nervous system disease 12351
        central nervous system disease 11076
          brain disease 10393
            Metabolic Brain Diseases 1388
              Metabolic Brain Diseases, Inborn 1269
                Lysosomal Storage Diseases, Nervous System 173
                  sphingolipidosis 146
                    Niemann-Pick disease 23
                      Niemann-Pick disease type B 4
                        Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression 0
paths to the root