loading...| Preferred Name |
Werner Syndrome |
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| Synonyms |
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| Definitions |
A rare, autosomal recessive syndrome caused by mutations in the WRN gene. It is characterized by the appearance of accelerated aging following puberty. It is associated with the development of diabetes mellitus, atherosclerosis, cataracts, and cancer. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C3447 |
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| ALT_DEFINITION |
An inherited disorder marked by rapid aging that begins in early adolescence. Patients may be shorter than average, and have health problems such as loss and graying of hair, hardening of the arteries, thinning of the bones, diabetes, and thin, hardened skin. They also have an increased risk of cancer, especially osteosarcoma (a type of bone cancer). Adult progeria is caused by a mutation (change) in a gene involved in cell division. It is a type of autosomal recessive gene disease. |
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| code |
C3447 |
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| Contributing_Source |
Cellosaurus PCDC |
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| definition |
A rare, autosomal recessive syndrome caused by mutations in the WRN gene. It is characterized by the appearance of accelerated aging following puberty. It is associated with the development of diabetes mellitus, atherosclerosis, cataracts, and cancer. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C179491 http://purl.obolibrary.org/obo/NCIT_C186341 http://purl.obolibrary.org/obo/NCIT_C179478 |
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| label |
Werner Syndrome |
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| Legacy Concept Name |
Werner_Syndrome |
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| Preferred_Name |
Werner Syndrome |
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| prefixIRI |
NCIT:C3447 |
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| prefLabel |
Werner Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0043119 |
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| subClassOf |