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DOID:11722

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Name:myotonic dystrophy
Namespace:FANTOM
Xrefs:
links:

MSH:D009223
NCI:C84914
OMIM:160900
OMIM:602668
SNOMEDCT_2010_1_31:155096007
SNOMEDCT_2010_1_31:267713009
SNOMEDCT_2010_1_31:77956009

UMLS_CUI:C0027126
Synonyms: "Dystrophia myotonica" EXACT [SNOMEDCT_2005_07_31:267713009]
"Dystrophia myotonica" EXACT [SNOMEDCT_2005_07_31:155096007]
"Dystrophia myotonica" EXACT [MTHICD9_2006:359.2]
"Steinert myotonic dystrophy syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:77956009]
"Steinert's disease" EXACT [CSP2005:1849-6719]
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:450(myotonic disease)



Children
NA

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:11722 (myotonic dystrophy), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data