DOID:3320: Difference between revisions
From FANTOM5_SSTAR
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|id=DOID:3320
|name=Tay-Sachs disease
|namespace=
|def=
|xref=
|is_a=DOID:3321
|synonym="disease, Tay-Sachs" EXACT [MTHICD9_2006:330.1];;"hexosaminidase A defici...") |
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|id=DOID:3320 | |id=DOID:3320 | ||
|name=Tay-Sachs disease | |name=Tay-Sachs disease | ||
|namespace= | |namespace=disease_ontology | ||
|def= | |def= | ||
|xref= | |xref=MSH:D013661;;NCI:C85184;;OMIM:272800;;SNOMEDCT_2010_1_31:111385000;;UMLS_CUI:C0039373 | ||
|is_a=DOID:3321 | |is_a=DOID:3321 | ||
|synonym="disease, Tay-Sachs" EXACT [MTHICD9_2006:330.1];;"hexosaminidase A deficiency" EXACT [CSP2005:1849-8690];;"Tay-Sachs disease (disorder)" EXACT [SNOMEDCT_2005_07_31:111385000] | |synonym="disease, Tay-Sachs" EXACT [MTHICD9_2006:330.1];;"hexosaminidase A deficiency" EXACT [CSP2005:1849-8690];;"Tay-Sachs disease (disorder)" EXACT [SNOMEDCT_2005_07_31:111385000] | ||
|comment= | |comment=OMIM mapping confirmed by DO. [SN]. | ||
|alt_id= | |alt_id= | ||
|disjoint_from= | |disjoint_from= | ||
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|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo | |||
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Revision as of 14:00, 11 June 2012
| Name: | Tay-Sachs disease | ||
|---|---|---|---|
| Namespace: | disease_ontology | ||
| Xrefs: |
| ||
| Synonyms: |
"disease, Tay-Sachs" EXACT [MTHICD9_2006:330.1] "hexosaminidase A deficiency" EXACT [CSP2005:1849-8690] "Tay-Sachs disease (disorder)" EXACT [SNOMEDCT_2005_07_31:111385000] | ||
| Comments: | OMIM mapping confirmed by DO. [SN]. |
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:3321(gangliosidosis GM2) |
|---|
Children
| is a: | FF:10599-108E5 () |
|---|
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:3320 (Tay-Sachs disease), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data
No analysis results
