DOID:655
From FANTOM5_SSTAR
Name: | inherited metabolic disorder | ||
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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: |
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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) |
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Children
is a: | DOID:3146 (lipid metabolism disorder),DOID:3211 (lysosomal storage metabolic disease),DOID:896 (metal metabolism disorder) |
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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:655 (inherited metabolic disorder), sorted by p-values
Analyst: Hideya Kawaji
link to source dataset
human : data
mouse : data
No analysis results