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{{DOID
{{DOID
|id=DOID:14250
|alt_id=
|name=Down syndrome
|namespace=disease_ontology
|def=
|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
|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=OMIM mapping confirmed by DO. [SN].
|comment=OMIM mapping confirmed by DO. [SN].
|alt_id=
|disjoint_from=
|union_of=
|created_by=
|created_by=
|obo_creation_date=
|def=
|subset=
|derives_from=
|derives_from=
|develops_from=
|develops_from=
|disjoint_from=
|has_quality=
|has_quality=
|id=DOID:14250
|is_a=DOID:0080014
|is_obsolete=
|located_in=
|located_in=
|name=Down syndrome
|namespace=disease_ontology
|obo_creation_date=
|part_of=
|part_of=
|preceded_by=
|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo
|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo
|is_obsolete=
|subset=
|preceded_by=
|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]
|union_of=
|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
}}
}}

Revision as of 10:33, 12 September 2014

Name:Down syndrome
Namespace:disease_ontology
Xrefs:
links:

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
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 ()

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)

... further results

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

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