Werner Syndrome

Preferred Label : Werner Syndrome;

NCIt synonyms : Adult Progeria; Werner's Syndrome;

NCIt related terms : WS;

NCIt 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.;

Alternative definition : NCI-GLOSS: 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.;

Codes from synonyms : CDR0000666685; CDR0000666684; CDR0000666686;

Details

Origin ID

C3447;

UMLS CUI

C0043119;

Automatic exact mappings (from CISMeF team)
- Lower case Roman letter w (qualifier value) [SNOMED CT concept]
- Upper case Roman letter W (qualifier value) [SNOMED CT concept]
- Williams-beuren syndrome [OMIM Phenotype]
- elastin [ORDO Gene]
Currated CISMeF NLP mapping
- Werner syndrome [PASCAL descriptor]
- Werner syndrome [DO Concept]
- Werner syndrome [Disease (Nov.)]
- Werner syndrome [ICD-11 More detail]
- Werner syndrome [OMIM Phenotype]
- Werner syndrome [ORDO Disease]
- Werner syndrome (disorder) [SNOMED CT concept]
- Werner's syndrome [MedDRA Preferred Term]
- werner syndrome [MeSH Descriptor]
- werner syndrome [MeSH concept]
- werner syndrome [SNOMED Notion]
DO Cross reference
- Werner syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Werner syndrome [ORDO Disease]
- Werner syndrome [OMIM Phenotype]
- Werner syndrome [PASCAL descriptor]
- Werner syndrome [DO Concept]
- Werner syndrome [Disease (Nov.)]
- Werner syndrome (disorder) [SNOMED CT concept]
- Werner's syndrome [MedDRA Preferred Term]
- werner syndrome [MeSH concept]
- werner syndrome [SNOMED Notion]
- werner syndrome [MeSH Descriptor]
associated_with_malfunction_of_gene_product
- Werner Syndrome ATP-Dependent Helicase [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- WRN Gene Mutation [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 8 [NCIt concept]
disease_mapped_to_gene
- WRN Gene [NCIt concept]
disease_may_have_associated_disease
- Hematopoietic and Lymphoid Cell Neoplasm [NCIt concept]
- Melanoma [NCIt concept]
- Meningioma [NCIt concept]
- Osteosarcoma [NCIt concept]
- Soft Tissue Sarcoma [NCIt concept]
- Thyroid Gland Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- WRN Gene [NCIt concept]
- WRN wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

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