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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 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 More... NCBI chrNW_004955523:499,508...507,809
Ensembl chrNW_004955523:499,508...508,273 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:25741868 NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 OMIM
ClinVar		 PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 More... NCBI chrNW_004955523:1,010,976...1,021,048
Ensembl chrNW_004955523:1,010,976...1,021,144 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14333
    Nutritional and Metabolic Diseases 6997
      disease of metabolism 6997
        lipid metabolism disorder 1633
          lipid storage disease 761
            sphingolipidosis 146
              Niemann-Pick disease 23
                Niemann-Pick disease type C2 3
Path 2
Term Annotations click to browse term
  disease 14333
    disease of anatomical entity 14027
      nervous system disease 12344
        central nervous system disease 11065
          brain disease 10383
            Metabolic Brain Diseases 1392
              Metabolic Brain Diseases, Inborn 1273
                Lysosomal Storage Diseases, Nervous System 173
                  sphingolipidosis 146
                    Niemann-Pick disease 23
                      Niemann-Pick disease type C2 3
paths to the root