retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome
exact
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
exact
SPAC2F7.14c