SHORT syndrome
A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.
MONDO:0005015
diabetes mellitus
excluded_subClassOf
MONDO:0015333
progeroid syndrome
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0005328
eye disorder
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0020087
hereditary lipodystrophy
is_a
MONDO:1060136
PIK3R1-related immunodeficiency and SHORT syndrome
is_a
Aarskog-Ose-Pande syndrome
exact
Rieger anomaly-partial lipodystrophy syndrome
exact
SHORT syndrome
exact
lipodystrophy-Rieger anomaly-diabetes syndrome
exact
partial lipodystrophy with Rieger anomaly and short stature
related
short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay
related
short syndrome
exact