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- NCIT_C85232 IAO_0000115 "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." @default.
- NCIT_C85232 NCIT_NHC0 "C85232" @default.
- NCIT_C85232 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C85232 NCIT_P108 "Williams Syndrome" @default.
- NCIT_C85232 NCIT_P207 "C0175702" @default.
- NCIT_C85232 NCIT_P322 "ACC/AHA" @default.
- NCIT_C85232 NCIT_P322 "Cellosaurus" @default.
- NCIT_C85232 NCIT_P322 "NICHD" @default.
- NCIT_C85232 NCIT_P325 "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." @default.
- NCIT_C85232 NCIT_P325 "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." @default.
- NCIT_C85232 NCIT_R174 NCIT_C12219 @default.
- NCIT_C85232 NCIT_R174 NCIT_C13202 @default.
- NCIT_C85232 NCIT_R174 NCIT_C13203 @default.
- NCIT_C85232 NCIT_R174 NCIT_C13223 @default.
- NCIT_C85232 NCIT_R174 NCIT_C13404 @default.
- NCIT_C85232 NCIT_R174 NCIT_C14134 @default.
- NCIT_C85232 NCIT_R174 NCIT_C21599 @default.
- NCIT_C85232 normalizedInformationContent "100" @default.
- NCIT_C85232 referenceCount "1" @default.
- NCIT_C85232 hasExactSynonym "Williams Syndrome" @default.
- NCIT_C85232 hasExactSynonym "Williams syndrome" @default.
- NCIT_C85232 hasExactSynonym "Williams-Beuren Syndrome (WBS)" @default.
- NCIT_C85232 hasExactSynonym "Williams-Beuren Syndrome" @default.
- NCIT_C85232 inSubset NCIT_C118467 @default.
- NCIT_C85232 inSubset NCIT_C123272 @default.
- NCIT_C85232 inSubset NCIT_C165258 @default.
- NCIT_C85232 inSubset NCIT_C167409 @default.
- NCIT_C85232 inSubset NCIT_C192842 @default.
- NCIT_C85232 inSubset NCIT_C90259 @default.
- NCIT_C85232 inSubset NCIT_C99147 @default.
- NCIT_C85232 type Class @default.
- NCIT_C85232 isDefinedBy ncit.owl @default.
- NCIT_C85232 label "Williams Syndrome" @default.
- NCIT_C85232 subClassOf B08d46007d81afd4581de1aec972ecec4 @default.
- NCIT_C85232 subClassOf B16910b252545b717e061ff15540d9980 @default.
- NCIT_C85232 subClassOf NCIT_C28193 @default.
- NCIT_C85232 subClassOf NCIT_C2991 @default.
- NCIT_C85232 subClassOf NCIT_C4873 @default.
- NCIT_C85232 subClassOf NCIT_C53529 @default.
- NCIT_C85232 subClassOf NCIT_C53543 @default.
- NCIT_C85232 subClassOf NCIT_C53547 @default.
- NCIT_C85232 subClassOf NCIT_C7057 @default.
- NCIT_C85232 subClassOf NCIT_C85232 @default.