sea-blue histiocytosis - Ontology Report

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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	go back to main search page
Accession:	DOID:4423	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
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Genes (1)

sea-blue histiocytosis

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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_004624907:1,752,322...1,755,308

Term paths to the root

Path 1
Term	Annotations
disease	14230
Nutritional and Metabolic Diseases	6955
disease of metabolism	6955
lipid metabolism disorder	1614
Dyslipidemias	288
sea-blue histiocytosis	1
Path 2
Term	Annotations
disease	14230
disease of anatomical entity	13932
nervous system disease	12272
central nervous system disease	10999
brain disease	10313
Metabolic Brain Diseases	1386
Metabolic Brain Diseases, Inborn	1267
Lysosomal Storage Diseases, Nervous System	173
sphingolipidosis	146
sea-blue histiocytosis	1

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RGD DISEASE ONTOLOGY - ANNOTATIONS