| Metadata | |
|---|---|
| ID | DOID:0111454 |
| Name | SHORT syndrome |
| Definition | 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. https://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay, https://www.ncbi.nlm.nih.gov/pubmed/23810382 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Aarskog-Ose-Pande syndrome [EXACT] Lipodystrophy-Rieger anomaly-diabetes syndrome [EXACT] Rieger anomaly-partial lipodystrophy syndrome [EXACT] short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay [EXACT] |
| Parent Relationships |
is_a syndrome |