DOID:3211
From FANTOM5_SSTAR
Name: | lysosomal storage metabolic disease | ||
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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
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.
link to ontology dataset
data
Parents
is_a: | DOID:655(inherited metabolic disorder) |
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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
Analyst: Hideya Kawaji
link to source dataset
human : data
mouse : data
No analysis results