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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 A
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Accession:DOID:0070111 term browser browse the term
Definition:A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (DO)
Synonyms:exact_synonym: Niemann Pick disease, acute neuronopathic form;   Niemann Pick disease, acute neurovisceral form;   Niemann Pick disease, neuronopathic type;   Niemann Pick's disease type A;   acid sphingomyelinase deficiency, neurovisceral type;   classical Niemann Pick disease;   neuronal cholesterol lipidoses;   neuronal cholesterol lipidosis;   sphingomyelin cholesterol lipidoses;   sphingomyelin lipidoses;   sphingomyelin lipidosis;   sphingomyelin/cholesterol lipidosis;   supraoptic vertical ophthalmoplegia;   supraoptic vertical ophthalmoplegias
 broad_synonym: SMPD1-RELATED CONDITION
 primary_id: MESH:D052536
 alt_id: MIM:257200
 xref: GARD:7206;   MONDO:0009756;   NCI:C126561


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Niemann-Pick disease type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chr 1:169,308,719...169,332,372
Ensembl chr 1:159,896,880...159,920,627 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 disease_progression ISO protein:decreased expression:cerebellum (mouse) RGD PMID:16277603 RGD:6482797 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:3,654,237...3,699,853
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr 6:110,128,325...110,149,245
Ensembl chr 6:104,378,644...104,418,155 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794 		JBrowse link
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral ClinVar PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 More... NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794 		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 A 5
                  Niemann-Pick Disease, Intermediate, Protracted Neurovisceral 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 A 5
                        Niemann-Pick Disease, Intermediate, Protracted Neurovisceral 1
paths to the root