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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 C2
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Accession:DOID:0070114 term browser browse the term
Definition:A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. (DO)
Synonyms:exact_synonym: NPC2;   NPC2-RELATED CONDITION;   Niemann-Pick disease C2
 xref: GARD:3992;   MESH:C536119;   MIM:607625;   MONDO:0011873;   NCI:C126865


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Niemann-Pick disease type C2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACYP1 acylphosphatase 1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 More... NCBI chr14:75,053,243...75,069,490
Ensembl chr14:75,053,237...75,069,483 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:25741868 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
EXP		 ClinVar Annotator: match by term: Niemann-Pick disease, type C2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 More... NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		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 C2 3
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 C2 3
paths to the root