DOID:3211: Difference between revisions
From FANTOM5_SSTAR
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|name=lysosomal storage metabolic disease
|namespace=disease_ontology
|def="An inherited metabolic disorder that involve an abnormal accumulation of s...") |
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|name=lysosomal storage metabolic disease | |name=lysosomal storage metabolic disease | ||
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|def="An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function." [url:http | |def="An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function." [url:http://en.wikipedia.org/wiki/Lysosomal_storage_disease] | ||
|xref=MSH:D016464;;NCI:C61250;;SNOMEDCT_2010_1_31:23585005;;UMLS_CUI:C0085078 | |xref=MSH:D016464;;NCI:C61250;;SNOMEDCT_2010_1_31:23585005;;UMLS_CUI:C0085078 | ||
|is_a=DOID:655 | |is_a=DOID:655 | ||
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Latest revision as of 16:32, 26 June 2012
| Name: | lysosomal storage metabolic disease | ||
|---|---|---|---|
| Namespace: | disease_ontology | ||
| Definition: | "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function." [url:http://en.wikipedia.org/wiki/Lysosomal_storage_disease] | ||
| Xrefs: |
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| Synonyms: |
"disorder of lysosomal enzyme (disorder)" EXACT [SNOMEDCT_2005_07_31:23585005] "inborn lysosomal enzyme disorder" EXACT [CSP2005:1849-5878] "lysosomal storage metabolism disorder" EXACT [] |
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:655(inherited metabolic disorder) |
|---|
Children
| is a: | FF:10577-108C1 (),DOID:9455 (lipid storage disease) |
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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:3211 (lysosomal storage metabolic disease), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data
No analysis results
