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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: OMIM:269600
 xref: NCI:C85062;   ORDO:158029
For additional species annotation, visit the Alliance of Genome Resources.



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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 CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:11095479 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        lipid metabolism disorder 1146
          Dyslipidemias 338
            sea-blue histiocytosis 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            Metabolic Brain Diseases 845
              Metabolic Brain Diseases, Inborn 745
                Lysosomal Storage Diseases, Nervous System 112
                  sphingolipidosis 85
                    sea-blue histiocytosis 1
paths to the root