Personal tools

DOID:14250

From FANTOM5_SSTAR

Jump to: navigation, search

Name:Down syndrome
Namespace:FANTOM
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
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.

link to ontology dataset
data


Parents

is_a:DOID:0080014(chromosomal disease)



Children


is a:FF:10804-111A3 (),FF:10806-111A5 ()


Ontology Tree: Loaded from BioPortal

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
Analyst: Hideya Kawaji

link to source dataset
human : data
mouse : data


No analysis results