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DOID:3320: Difference between revisions

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(Created page with "{{DOID |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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|located_in=
|located_in=
|part_of=
|part_of=
|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo
|is_obsolete=
|preceded_by=
}}
}}

Revision as of 14:00, 11 June 2012

Name:Tay-Sachs disease
Namespace:disease_ontology
Xrefs:
links:

MSH:D013661
NCI:C85184
OMIM:272800
SNOMEDCT_2010_1_31:111385000

UMLS_CUI:C0039373
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