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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 Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:25741868 NCBI chr18:3,654,237...3,699,853
Ensembl chr18:3,654,237...3,699,800 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Niemann-Pick disease, type C2 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 More... NCBI chr 6:110,128,325...110,149,245
Ensembl chr 6:110,128,325...110,150,004 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        lipid metabolism disorder 999
          lipid storage disease 571
            sphingolipidosis 53
              Niemann-Pick disease 9
                Niemann-Pick disease type C2 2
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            Metabolic Brain Diseases 443
              Metabolic Brain Diseases, Inborn 385
                Lysosomal Storage Diseases, Nervous System 71
                  sphingolipidosis 53
                    Niemann-Pick disease 9
                      Niemann-Pick disease type C2 2
paths to the root