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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
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)



Children


is a:FF:10577-108C1 (),DOID:9455 (lipid storage disease)


Ontology Tree: Loaded from BioPortal

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