OBO ID: DOID:0111454
Term Name: SHORT syndrome Search Ontology:
Synonyms:
  • 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
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. (2)
References:
Ontology: Human Disease   ( DOID:0111454 )
OTHER SHORT syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIK3R1 SHORT syndrome 269880
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None