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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 D
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Accession:DOID:9003739 term browser browse the term
Synonyms:exact_synonym: Niemann Pick Disease, Nova Scotian;   Niemann Pick's Disease Type D;   Niemann-Pick Disease, Nova Scotian Type;   Nova Scotia Niemann Pick Disease (Type D)
 broad_synonym: NPC1-RELATED CONDITION
 primary_id: MESH:C564941
 alt_id: MIM:257220


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Niemann-Pick Disease Type D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type D ClinVar
OMIM		 PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 More... NCBI chr18:3,654,237...3,699,853
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Nutritional and Metabolic Diseases 8544
      disease of metabolism 8544
        lipid metabolism disorder 1905
          lipid storage disease 860
            sphingolipidosis 154
              Niemann-Pick disease 27
                Niemann-Pick Disease Type D 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            Metabolic Brain Diseases 1517
              Metabolic Brain Diseases, Inborn 1384
                Lysosomal Storage Diseases, Nervous System 185
                  sphingolipidosis 154
                    Niemann-Pick disease 27
                      Niemann-Pick Disease Type D 1
paths to the root