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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
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: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

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
Analyst: Hideya Kawaji

link to source dataset
human : data
mouse : data


No analysis results