| Metadata | |
|---|---|
| ID | DOID:14780 |
| Name | KBG syndrome |
| Definition | A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome, https://www.kbgfoundation.com/home.html |
| Xrefs |
SNOMEDCT_US_2023_03_01:711156009 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a spinal disease is_a syndrome |
| Subclass Logical Relationships |
disease has location some vertebral column disease has location some limb |