DOID:9455: Difference between revisions
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|name=lipid storage disease | |name=lipid storage disease | ||
|namespace=disease_ontology | |namespace=disease_ontology | ||
|def="A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the | |def="A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body遯ｶ蜀ｱ cells and tissues." [url:http://en.wikipedia.org/wiki/Lipidoses] | ||
|xref=ICD9CM:272.7;;ICD9CM:272.8;;MSH:D008064;;SNOMEDCT_2010_1_31:10741005;;SNOMEDCT_2010_1_31:11455007;;SNOMEDCT_2010_1_31:154744007;;SNOMEDCT_2010_1_31:190792005;;SNOMEDCT_2010_1_31:190797004;;SNOMEDCT_2010_1_31:190798009;;SNOMEDCT_2010_1_31:190805007;;SNOMEDCT_2010_1_31:267437005;;SNOMEDCT_2010_1_31:267438000;;UMLS_CUI:C0023794;;UMLS_CUI:C0029591 | |xref=ICD9CM:272.7;;ICD9CM:272.8;;MSH:D008064;;SNOMEDCT_2010_1_31:10741005;;SNOMEDCT_2010_1_31:11455007;;SNOMEDCT_2010_1_31:154744007;;SNOMEDCT_2010_1_31:190792005;;SNOMEDCT_2010_1_31:190797004;;SNOMEDCT_2010_1_31:190798009;;SNOMEDCT_2010_1_31:190805007;;SNOMEDCT_2010_1_31:267437005;;SNOMEDCT_2010_1_31:267438000;;UMLS_CUI:C0023794;;UMLS_CUI:C0029591 | ||
|is_a=DOID:3211 | |is_a=DOID:3211 | ||
Latest revision as of 13:16, 27 June 2012
| Name: | lipid storage disease | ||
|---|---|---|---|
| Namespace: | disease_ontology | ||
| Definition: | "A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body遯ｶ蜀ｱ cells and tissues." [url:http://en.wikipedia.org/wiki/Lipidoses] | ||
| Xrefs: |
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| Synonyms: |
"inborn lipid storage disorder" EXACT [CSP2005:1849-5707] "Lipid storage disease (disorder)" EXACT [SNOMEDCT_2005_07_31:10741005] "Lipidoses (disorder)" EXACT [SNOMEDCT_2005_07_31:267437005] "Lipidoses NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:267438000] "Lipidoses: [familial xanthomatosis] or [NOS]" EXACT [SNOMEDCT_2005_07_31:190797004] "Lipoid storage disease NOS" EXACT [MTHICD9_2006:272.7] "lipoidosis" EXACT [] "Lipoidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:11455007] | ||
| Alt_id: | DOID:10583 |
Ontology association<br>Each term has an is_a parent in the Disease Ontology, which has a linkage to an another entity and FANTOM5 samples.Libraries were grouped into mutually exclusive facets according to the FANTOM5 sample ontology mapping to DISEASE ontologies.<br><br>link to ontology dataset<br>data
Parents
| is_a: | DOID:3211(lysosomal storage metabolic disease) |
|---|
Children
| is a: | DOID:1927 (sphingolipidosis) |
|---|
Ontology Tree: Loaded from BioPortal
Ontorolgy tree(Small window open)
FF samples
Human (Homo sapiens)
Mouse (Mus musculus)
Enrichment analysis: top 100 FFCP enriched with this ontology termTOP 100 FANTOM5 Cage Peaks enriched with DOID:9455 (lipid storage disease), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data
No analysis results
