Human genes for SHORT syndrome
SHORT syndrome [DOID:0111454]
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 PIK3R1 on chromosome 5q13.
Synonyms: SHORT syndrome, DOID:0111454, SHORT disease, SHORT disorder, SHORT syndromes ...