DOID:14250: Difference between revisions
From FANTOM5_SSTAR
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|id=DOID:14250
|name=Down syndrome
|namespace=
|def=
|xref=
|is_a=DOID:0080014
|synonym="Complete trisomy 21 syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:4104...") |
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|id=DOID:14250 | |id=DOID:14250 | ||
|name=Down syndrome | |name=Down syndrome | ||
|namespace= | |namespace=disease_ontology | ||
|def= | |def= | ||
|xref= | |xref=ICD9CM:758.0;;MSH:D004314;;NCI:C2993;;NCI:C43224;;OMIM:190685;;SNOMEDCT_2010_1_31:157019002;;SNOMEDCT_2010_1_31:205614001;;SNOMEDCT_2010_1_31:205618003;;SNOMEDCT_2010_1_31:254263008;;SNOMEDCT_2010_1_31:41040004;;UMLS_CUI:C0013080 | ||
|is_a=DOID:0080014 | |is_a=DOID:0080014 | ||
|synonym="Complete trisomy 21 syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:41040004];;"Down's syndrome" EXACT [SNOMEDCT_2005_07_31:157019002];;"Down's syndrome" EXACT [ICD9CM_2006:758.0];;"Down's syndrome - trisomy 21" EXACT [SNOMEDCT_2005_07_31:205614001];;"Down's syndrome NOS" EXACT [SNOMEDCT_2005_07_31:205618003];;"Down's syndrome NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:254263008];;"Downs syndrome" EXACT [NCI2004_11_17:C2993];;"G Trisomy" EXACT [MTHICD9_2006:758.0];;"trisomy 21 syndrome" EXACT [CSP2005:1254-8068] | |synonym="Complete trisomy 21 syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:41040004];;"Down's syndrome" EXACT [SNOMEDCT_2005_07_31:157019002];;"Down's syndrome" EXACT [ICD9CM_2006:758.0];;"Down's syndrome - trisomy 21" EXACT [SNOMEDCT_2005_07_31:205614001];;"Down's syndrome NOS" EXACT [SNOMEDCT_2005_07_31:205618003];;"Down's syndrome NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:254263008];;"Downs syndrome" EXACT [NCI2004_11_17:C2993];;"G Trisomy" EXACT [MTHICD9_2006:758.0];;"trisomy 21 syndrome" EXACT [CSP2005:1254-8068] | ||
|comment= | |comment=OMIM mapping confirmed by DO. [SN]. | ||
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|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo | |||
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Revision as of 13:59, 11 June 2012
| Name: | Down syndrome | ||
|---|---|---|---|
| Namespace: | disease_ontology | ||
| Xrefs: |
| ||
| Synonyms: |
"Complete trisomy 21 syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:41040004] "Down's syndrome" EXACT [SNOMEDCT_2005_07_31:157019002] "Down's syndrome" EXACT [ICD9CM_2006:758.0] "Down's syndrome - trisomy 21" EXACT [SNOMEDCT_2005_07_31:205614001] "Down's syndrome NOS" EXACT [SNOMEDCT_2005_07_31:205618003] "Down's syndrome NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:254263008] "Downs syndrome" EXACT [NCI2004_11_17:C2993] "G Trisomy" EXACT [MTHICD9_2006:758.0] "trisomy 21 syndrome" EXACT [CSP2005:1254-8068] | ||
| 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:0080014(chromosomal disease) |
|---|
Children
| is a: | FF:10804-111A3 (),FF:10806-111A5 () |
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Ontology Tree: Loaded from BioPortal
Ontorolgy tree(Small window open)
FF samples
Human (Homo sapiens)
- 10804-111A3
- 10806-111A5
- 13445-144F7 (iPS differentiation to neuron, down-syndrome donor C11-CCL54)
- 13446-144F8 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
- 13447-144F9 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
- 13448-144G1 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
- 13449-144G2 (iPS differentiation to neuron, down-syndrome donor C11-CCL54)
- 13450-144G3 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
- 13451-144G4 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
- 13452-144G5 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
... further results Mouse (Mus musculus)
- 10804-111A3
- 10806-111A5
- 13445-144F7 (iPS differentiation to neuron, down-syndrome donor C11-CCL54)
- 13446-144F8 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
- 13447-144F9 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
- 13448-144G1 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
- 13449-144G2 (iPS differentiation to neuron, down-syndrome donor C11-CCL54)
- 13450-144G3 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
- 13451-144G4 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
- 13452-144G5 (iPS differentiation to neuron, down-syndrome donor C18-CCL54)
Enrichment analysis: top 100 FFCP enriched with this ontology termTOP 100 FANTOM5 Cage Peaks enriched with DOID:14250 (Down syndrome), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data
No analysis results
