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- NCIT_C125599 IAO_0000115 "A rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability." @default.
- NCIT_C125599 NCIT_A13 NCIT_C21327 @default.
- NCIT_C125599 NCIT_NHC0 "C125599" @default.
- NCIT_C125599 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C125599 NCIT_P108 "Weaver Syndrome" @default.
- NCIT_C125599 NCIT_P207 "C0265210" @default.
- NCIT_C125599 NCIT_P322 "CCPS" @default.
- NCIT_C125599 NCIT_P322 "Cellosaurus" @default.
- NCIT_C125599 NCIT_P322 "NICHD" @default.
- NCIT_C125599 NCIT_P325 "An overgrowth syndrome caused by a heterozygous mutation(s) in the EZH2 gene, encoding histone-lysine N-methyltransferase EZH2. This condition is characterized by rapid prenatal and early childhood growth, advanced bone maturation and carpal bone development, craniofacial and skeletal abnormalities, and developmental delay. The distinctive physical and craniofacial characteristics may include macrocephaly, flattened occiput, long philtrum, strabismus, hypertelorism, epicanthal folds, and camptodactyly." @default.
- NCIT_C125599 normalizedInformationContent "100" @default.
- NCIT_C125599 referenceCount "1" @default.
- NCIT_C125599 hasExactSynonym "WVS" @default.
- NCIT_C125599 hasExactSynonym "Weaver Syndrome" @default.
- NCIT_C125599 hasExactSynonym "Weaver-Smith Syndrome" @default.
- NCIT_C125599 inSubset NCIT_C118467 @default.
- NCIT_C125599 inSubset NCIT_C165258 @default.
- NCIT_C125599 inSubset NCIT_C177281 @default.
- NCIT_C125599 inSubset NCIT_C177516 @default.
- NCIT_C125599 inSubset NCIT_C192842 @default.
- NCIT_C125599 inSubset NCIT_C90259 @default.
- NCIT_C125599 type Class @default.
- NCIT_C125599 isDefinedBy ncit.owl @default.
- NCIT_C125599 label "Weaver Syndrome" @default.
- NCIT_C125599 subClassOf Bbbfbb3fa054d1f286b73d8ec75aa774c @default.
- NCIT_C125599 subClassOf Bbc81e0f2fdf02eddbf76b261df57d981 @default.
- NCIT_C125599 subClassOf NCIT_C125599 @default.
- NCIT_C125599 subClassOf NCIT_C28193 @default.
- NCIT_C125599 subClassOf NCIT_C2991 @default.
- NCIT_C125599 subClassOf NCIT_C4873 @default.
- NCIT_C125599 subClassOf NCIT_C53529 @default.
- NCIT_C125599 subClassOf NCIT_C53543 @default.
- NCIT_C125599 subClassOf NCIT_C53547 @default.
- NCIT_C125599 subClassOf NCIT_C7057 @default.