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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_004624817:7,913,541...7,937,945
Ensembl chrNW_004624817:7,909,468...7,936,487 		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_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chrNW_004624734:27,166,867...27,177,229
Ensembl chrNW_004624734:27,166,880...27,177,229 		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_004624817:7,909,777...7,913,419
Ensembl chrNW_004624817:7,909,468...7,913,417 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14231
    Nutritional and Metabolic Diseases 6956
      disease of metabolism 6956
        lipid metabolism disorder 1613
          lipid storage disease 756
            sphingolipidosis 145
              Niemann-Pick disease 25
                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 14231
    disease of anatomical entity 13933
      nervous system disease 12273
        central nervous system disease 10999
          brain disease 10313
            Metabolic Brain Diseases 1386
              Metabolic Brain Diseases, Inborn 1267
                Lysosomal Storage Diseases, Nervous System 172
                  sphingolipidosis 145
                    Niemann-Pick disease 25
                      Niemann-Pick disease type B 4
                        Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression 0
paths to the root