DOID:14250

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

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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

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No analysis results