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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:atypical Gaucher's disease due to saposin C deficiency
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Accession:DOID:0110961 term browser browse the term
Definition:A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. (DO)
Synonyms:exact_synonym: GDSAPC;   atypical Gaucher disease due to saposin C deficiency
 primary_id: MESH:C566435
 alt_id: MIM:610539
 xref: ORDO:309252


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atypical Gaucher's disease due to saposin C deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Psap prosaposin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency		 CTD
ClinVar
OMIM		 PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:8554069 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Nutritional and Metabolic Diseases 8516
      disease of metabolism 8516
        lipid metabolism disorder 1900
          lipid storage disease 855
            sphingolipidosis 152
              Gaucher's disease 15
                atypical Gaucher's disease due to saposin C deficiency 2
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            Metabolic Brain Diseases 1511
              Metabolic Brain Diseases, Inborn 1380
                Lysosomal Storage Diseases, Nervous System 182
                  sphingolipidosis 152
                    Gaucher's disease 15
                      atypical Gaucher's disease due to saposin C deficiency 2
paths to the root