| Disease Aliases (12) | Aarskog-ose-pande syndrome Lipodystrophy, partial, with rieger anomaly and short stature Lipodystrophy - rieger anomaly - diabetes Lipodystrophy, partial, with rieger anomaly, and short stature Lipodystrophy-rieger anomaly-diabetes syndrome Partial lipodystrophy with rieger anomaly and short stature Rieger anomaly - partial lipodystrophy Rieger anomaly-partial lipodystrophy syndrome Short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay Short stature, hyperextensibility, hernia, ocular depression, rieger anomaly and teething delay Stature, hyperextensibility of joints or hernia (inguinal), ocular depression, rieger anomaly and teething delay |
Associated Genes (1) NCBI-RefSeq: PIK3R1 (Phosphoinositide-3-kinase regulatory subunit 1) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of SHORT syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |