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DOID:655

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Name:inherited metabolic disorder
Namespace:disease_ontology
Definition:"A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inhertied enzyme abnormality." [url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism, url:http://www.ncbi.nlm.nih.gov/mesh/68008659]
Xrefs:
links:

MSH:D008661
NCI:C34816
SNOMEDCT_2010_1_31:363205007
SNOMEDCT_2010_1_31:86095007

UMLS_CUI:C0025521
Synonyms: "Inborn Errors of Metabolism" EXACT [NCI2004_11_17:C34816]
"inborn metabolism disorder" EXACT [CSP2005:1849-0057]
"Metabolic hereditary disorder" EXACT [SNOMEDCT_2005_07_31:363205007]

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:0014667(disease of metabolism)



Children


is a:DOID:3146 (lipid metabolism disorder),DOID:3211 (lysosomal storage metabolic disease),DOID:896 (metal metabolism disorder)

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:655 (inherited metabolic disorder), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data


No analysis results