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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: EFO:1001170;   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 ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis ClinVar
OMIM		 PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 More... NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Nutritional and Metabolic Diseases 7183
      disease of metabolism 7183
        lipid metabolism disorder 1570
          Dyslipidemias 279
            sea-blue histiocytosis 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            Metabolic Brain Diseases 1465
              Metabolic Brain Diseases, Inborn 1340
                Lysosomal Storage Diseases, Nervous System 174
                  sphingolipidosis 147
                    sea-blue histiocytosis 1
paths to the root