loading...| Preferred Name |
Weaver Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125599 |
| ALT_DEFINITION |
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. |
| code |
C125599 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
| Contributing_Source |
NICHD CCPS Cellosaurus |
| DEFINITION |
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. |
| FULL_SYN |
WVS Weaver Syndrome Weaver-Smith Syndrome |
| label |
Weaver Syndrome |
| Preferred_Name |
Weaver Syndrome |
| prefixIRI |
Thesaurus:C125599 |
| prefLabel |
Weaver Syndrome |
| Related_To_Genetic_Biomarker | |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0265210 |
| subClassOf |