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loading...| Preferred Name | obsolete_Cockayne syndrome | |
| Synonyms |
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| Definitions |
Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_191 |
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| Obsolete |
true |
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| database_cross_reference |
OMIM:216411 MeSH:D003057 ICD10:Q87.1 OMIM:610758 OMIM:610756 OMIM:216400 OMIM:214150 MedDRA:10009835 OMIM:278780 OMIM:133540 UMLS:C0009207 DOID:2962 |
|
| definition |
Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. |
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| definition_citation |
orphanet |
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| deprecated |
true |
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| label |
obsolete_Cockayne syndrome |
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| obsoleted_in_version |
3.41.0 |
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| preferred label |
obsolete_Cockayne syndrome |
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| prefLabel |
obsolete_Cockayne syndrome |
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| reason_for_obsolescence |
Replaced with Mondo term. |
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| term replaced by | ||
| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_191 | CCONT | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_191 | ORDO | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0000359 | CCONT | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_191 | CCONT | LOOM |