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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 IAGP ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chr11:6,395,124...6,419,453
Ensembl chr11:6,395,125...6,419,414 		JBrowse link
G LOC130005193 ATAC-STARR-seq lymphoblastoid silent region 3099 IAGP ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar Annotator: match by term: Niemann-Pick disease, type B		 ClinVar PMID:8053910 PMID:12369017 PMID:12556236 PMID:15221801 PMID:15241805 More... NCBI chr11:6,390,191...6,390,690 JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 IAGP ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP
EXP		 ClinVar Annotator: match by term: Niemann-Pick disease, type B
ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    Nutritional and Metabolic Diseases 26886
      disease of metabolism 26886
        lipid metabolism disorder 2775
          lipid storage disease 1199
            sphingolipidosis 183
              Niemann-Pick disease 31
                Niemann-Pick disease type B 5
                  Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression 0
Path 2
Term Annotations click to browse term
  disease 145369
    disease of anatomical entity 132557
      nervous system disease 70715
        central nervous system disease 50806
          brain disease 48114
            Metabolic Brain Diseases 1892
              Metabolic Brain Diseases, Inborn 1722
                Lysosomal Storage Diseases, Nervous System 237
                  sphingolipidosis 183
                    Niemann-Pick disease 31
                      Niemann-Pick disease type B 5
                        Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression 0
paths to the root