loading...| Preferred Name |
Williams Syndrome |
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| Synonyms |
Williams-Beuren Syndrome Williams-Beuren Syndrome (WBS) Williams Syndrome Williams syndrome |
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| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85232 |
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| ALT_DEFINITION |
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. 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. |
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| code |
C85232 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123272 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C167409 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
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| Contributing_Source |
Cellosaurus ACC/AHA NICHD |
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| 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. |
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| FULL_SYN |
Williams-Beuren Syndrome Williams-Beuren Syndrome (WBS) Williams Syndrome Williams syndrome |
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| label |
Williams Syndrome |
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| Preferred_Name |
Williams Syndrome |
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| prefixIRI |
Thesaurus:C85232 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0175702 |
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| subClassOf |