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ONTOLOGY REPORT - ANNOTATIONS


Term:Niemann-Pick disease
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Accession:DOID:14504 term browser browse the term
Definition:A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
Synonyms:exact_synonym: Niemann Pick diseases;   lipoid histiocytosis;   sphingomyelin lipidosis;   sphingomyelinase deficiencies;   sphingomyelinase deficiency;   sphingomyelinase deficiency disease
 primary_id: MESH:D009542
 alt_id: RDO:0004570
 xref: GARD:13334
For additional species annotation, visit the Alliance of Genome Resources.


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Niemann-Pick disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 3 10,041,820 10,145,076 RGD:8693571
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:13592920
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:1601483
RGD:13592920
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:1601336
RGD:11554173
Niemann-Pick disease type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:6482797
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:7240710
RGD:8554872
Niemann-Pick disease type B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gcdh glutaryl-CoA dehydrogenase JBrowse link 19 26,000,497 26,006,970 RGD:8554872
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:7240710
RGD:8554872
Niemann-Pick disease type C1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 3 10,041,820 10,145,076 RGD:10047095
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:10403054
G Lipa lipase A, lysosomal acid type JBrowse link 1 252,816,536 252,959,348 RGD:11554173
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:7240710
RGD:8554872
RGD:11554173
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rmc1 regulator of MON1-CCZ1 JBrowse link 18 3,597,210 3,617,160 RGD:8554872
G Spg7 SPG7, paraplegin matrix AAA peptidase subunit JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:10403054
Niemann-Pick disease type C2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:7240710
RGD:8554872
Niemann-Pick Disease Type D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:8554872
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Nutritional and Metabolic Diseases 4150
      disease of metabolism 4150
        lipid metabolism disorder 721
          lipid storage disease 342
            sphingolipidosis 54
              Niemann-Pick disease 14
                Niemann-Pick Disease Type D 1
                Niemann-Pick Disease Type F 0
                Niemann-Pick Disease, Intermediate, Protracted Neurovisceral 1
                Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression 0
                Niemann-Pick disease type A 2
                Niemann-Pick disease type B 2
                Niemann-Pick disease type C1 11
                Niemann-Pick disease type C2 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            Metabolic Brain Diseases 439
              Metabolic Brain Diseases, Inborn 383
                Lysosomal Storage Diseases, Nervous System 71
                  sphingolipidosis 54
                    Niemann-Pick disease 14
                      Niemann-Pick Disease Type D 1
                      Niemann-Pick Disease Type F 0
                      Niemann-Pick Disease, Intermediate, Protracted Neurovisceral 1
                      Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression 0
                      Niemann-Pick disease type A 2
                      Niemann-Pick disease type B 2
                      Niemann-Pick disease type C1 11
                      Niemann-Pick disease type C2 1
paths to the root