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loading...| Preferred Name |
Cockayne Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9460 |
| ALT_DEFINITION |
A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation. |
| code |
C9460 |
| Concept_In_Subset | |
| Contributing_Source |
CTRP |
| DEFINITION |
An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function. |
| Display_Name |
Cockayne Syndrome |
| label |
Cockayne Syndrome |
| Legacy_Concept_Name |
Cockayne_Syndrome |
| Preferred_Name |
Cockayne Syndrome |
| prefixIRI |
C9460 |
| prefLabel |
Cockayne Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0009207 |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_2962 | Human Disease Ontology 123 | LOOM | |
| http://purl.bioontology.org/ontology/MESH/D003057 | Medical Subject Headings | LOOM |