Search Ontology:
Human Disease

SHORT syndrome

Term ID
DOID:0111454
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models