DOID:2962: Difference between revisions
From FANTOM5_SSTAR
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|id=DOID:2962
|name=Cockayne syndrome
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|def="A monogenic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair protei...") |
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|id=DOID:2962 | |id=DOID:2962 | ||
|name=Cockayne syndrome | |name=Cockayne syndrome | ||
|namespace= | |namespace=disease_ontology | ||
|def="A monogenic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging." [url:http\://en.wikipedia.org/wiki/Cockayne_syndrome, url:http\://en.wikipedia.org/wiki/ERCC6, url:http\://en.wikipedia.org/wiki/ERCC8, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216411] | |def="A monogenic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging." [url:http\://en.wikipedia.org/wiki/Cockayne_syndrome, url:http\://en.wikipedia.org/wiki/ERCC6, url:http\://en.wikipedia.org/wiki/ERCC8, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216411] | ||
|xref= | |xref=MSH:D003057;;NCI:C9460;;OMIM:133540;;OMIM:216400;;SNOMEDCT_2010_1_31:205832003;;SNOMEDCT_2010_1_31:21086008;;UMLS_CUI:C0009207 | ||
|is_a=DOID:0050177 | |is_a=DOID:0050177 | ||
|synonym="Cockayne's syndrome" RELATED [CSP2005:0977-5812] | |synonym="Cockayne's syndrome" RELATED [CSP2005:0977-5812] | ||
|comment= | |comment=OMIM mapping confirmed by DO. [SN]. | ||
|alt_id= | |alt_id= | ||
|disjoint_from= | |disjoint_from= | ||
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|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo | |||
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Revision as of 14:00, 11 June 2012
| Name: | Cockayne syndrome | ||
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| Namespace: | disease_ontology | ||
| Definition: | "A monogenic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging." [url:http\://en.wikipedia.org/wiki/Cockayne_syndrome, url:http\://en.wikipedia.org/wiki/ERCC6, url:http\://en.wikipedia.org/wiki/ERCC8, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216411] | ||
| Xrefs: |
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| Synonyms: | "Cockayne's syndrome" RELATED [CSP2005:0977-5812] | ||
| 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:0050177(monogenic disease) |
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Children
| is a: | FF:10583-108C7 () |
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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:2962 (Cockayne syndrome), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data
No analysis results
