DOID:655: Difference between revisions
From FANTOM5_SSTAR
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|name=inherited metabolic disorder
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|def="A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes o...") |
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|id=DOID:655 | |id=DOID:655 | ||
|name=inherited metabolic disorder | |name=inherited metabolic disorder | ||
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|def="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] | |def="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] | ||
|xref= | |xref=MSH:D008661;;NCI:C34816;;SNOMEDCT_2010_1_31:363205007;;SNOMEDCT_2010_1_31:86095007;;UMLS_CUI:C0025521 | ||
|is_a=DOID:0014667 | |is_a=DOID:0014667 | ||
|synonym="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] | |synonym="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] | ||
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|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo | |||
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Revision as of 14:01, 11 June 2012
| 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<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) |
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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 <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data
No analysis results
