syndromic disease diabetes mellitus eye disorder SHORT syndrome https://github.com/monarch-initiative/mondo/issues/1567 https://github.com/monarch-initiative/mondo/issues/5723 https://github.com/monarch-initiative/mondo/issues/6878 https://github.com/monarch-initiative/mondo/issues/9011 https://www.malacards.org/card/short_syndrome GARD:0007633 NORD:1710 icd11.foundation:1264512044 A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt. SHORT syndrome partial lipodystrophy with Rieger anomaly and short stature lipodystrophy, partial, with Rieger anomaly and short stature MONDO:0010026 lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome MESH:C537327 short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay UMLS:C0878684 MEDGEN:164212 short syndrome OMIM:269880 short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay DOID:0111454 Aarskog-Ose-Pande syndrome Orphanet:3163 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability developmental anomaly of metabolic origin progeroid syndrome hereditary lipodystrophy PIK3R1-related immunodeficiency and SHORT syndrome