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DOID:3211

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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:
links:

MSH:D016464
NCI:C61250
SNOMEDCT_2010_1_31:23585005

UMLS_CUI:C0085078
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)

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