DO_rare_slim has material basis in autosomal dominant disease SHORT syndrome disease_ontology UMLS_CUI:C0878684 MESH:C537327 GARD:7633 DOID:0111454 ORDO:3163 A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. MIM:269880 Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay syndrome autosomal dominant inheritance