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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:sea-blue histiocytosis
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Accession:DOID:4423 term browser browse the term
Definition:A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids. (DO)
Synonyms:exact_synonym: sea-blue histiocyte disease;   sea-blue histiocyte diseases;   sea-blue histiocyte syndrome;   sea-blue histiocyte syndromes;   sea-blue histiocytoses
 related_synonym: APOE2 Isoforms
 primary_id: MESH:D012618
 alt_id: MIM:269600
 xref: EFO:1001170;   NCI:C85062;   ORDO:158029
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

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sea-blue histiocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis OMIM
ClinVar		 PMID:8488843 PMID:8750611 PMID:9279208 PMID:9360638 PMID:9603433 More... NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    Nutritional and Metabolic Diseases 6993
      disease of metabolism 6993
        lipid metabolism disorder 1629
          Dyslipidemias 289
            sea-blue histiocytosis 1
Path 2
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      nervous system disease 12351
        central nervous system disease 11076
          brain disease 10393
            Metabolic Brain Diseases 1388
              Metabolic Brain Diseases, Inborn 1269
                Lysosomal Storage Diseases, Nervous System 173
                  sphingolipidosis 146
                    sea-blue histiocytosis 1
paths to the root