DO_rare_slim disease has location spinal disease KBG syndrome 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. MESH:C537015 MIM:148050 disease_ontology DOID:14780 GARD:82 ORDO:2332 UMLS_CUI:C0220687 SNOMEDCT_US_2025_09_01:711156009 OMIM mapping confirmed by DO. [SN]. syndrome vertebral column limb