loading...| Preferred Name |
Weaver syndrome |
| Synonyms |
WEAVER-LIKE SYNDROME |
| Definitions |
A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. OMIM mapping confirmed by DO. [LS]. |
| ID |
http://purl.obolibrary.org/obo/DOID_14731 |
| comment |
OMIM mapping confirmed by DO. [LS]. |
| database_cross_reference |
UMLS_CUI:C0220765 GARD:7878 OMIM:277590 MESH:C562443 GARD:5545 |
| definition |
A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. |
| has exact synonym |
WEAVER-LIKE SYNDROME Weaver-Williams syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14731 |
| in_subset | |
| label |
Weaver syndrome |
| notation |
DOID:14731 |
| prefLabel |
Weaver syndrome |
| subClassOf |