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DOID:0111454 - SHORT syndrome
Disease Ontology 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.
Synonyms: Aarskog-Ose-Pande syndrome, Rieger anomaly-partial lipodystrophy syndrome, Lipodystrophy-Rieger anomaly-diabetes syndrome, short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
Xenbase Genes
:
pik3r1
| MIM:269880 - SHORT SYNDROME |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)