| Metadata | |
|---|---|
| ID | DOID:0060248 |
| Name | Simpson-Golabi-Behmel syndrome type 1 |
| Definition | A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome, http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome, https://pubmed.ncbi.nlm.nih.gov/36720533/ |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
bulldog syndrome [EXACT] DGSX Golabi-Rosen syndrome [EXACT] Golabi-Rosen syndrome [EXACT] Sara Angers syndrome [EXACT] SGB syndrome [EXACT] Simpson dysmorphia syndrome [EXACT] X-linked dysplasia gigantism syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |