Williams Syndrome

Preferred Label : Williams Syndrome;

NCIt synonyms : Williams-Beuren Syndrome (WBS);

NCIt related terms : Williams-Beuren Syndrome;

NCIt definition : A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia.;

Alternative definition : NICHD: A syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes, and characterized by distinctive facial appearance (elfin facies), mild-to-moderate developmental delay, cheerfulness, cardiovascular dysfunction which may include supravalvular aortic stenosis, and endocrine abnormalities, including precocious puberty, hypothyroidism, and infantile hypercalcemia/ hypercalciuria.; ACC/AHA: A genetic syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental developmental delay, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia.;

Details

Origin ID

C85232;

UMLS CUI

C0175702;

Automatic exact mappings (from CISMeF team)
- elastin [ORDO Gene]
- elastin [HGNC gene]
Currated CISMeF NLP mapping
- Williams Beuren syndrome [Disease (Nov.)]
- Williams syndrome [PASCAL descriptor]
- Williams syndrome [MedDRA Preferred Term]
- Williams syndrome [ORDO Disease]
- Williams syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren syndrome [DO Concept]
- Williams-Beuren syndrome [ICD-11 More detail]
- Williams-beuren syndrome [OMIM Phenotype]
- williams syndrome [MeSH Descriptor]
- williams syndrome [MeSH concept]
- williams syndrome [SNOMED Notion]
DO Cross reference
- Williams-Beuren syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Williams Beuren syndrome [Disease (Nov.)]
- Williams syndrome [ORDO Disease]
- Williams syndrome [PASCAL descriptor]
- Williams syndrome [MedDRA Preferred Term]
- Williams syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren syndrome [DO Concept]
- Williams-Beuren syndrome [ICD-11 More detail]
- Williams-beuren syndrome [OMIM Phenotype]
- williams syndrome [MeSH concept]
- williams syndrome [SNOMED Notion]
- williams syndrome [MeSH Descriptor]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 7 [NCIt concept]

Keyword's position in hierarchy(ies) :

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