short-rib thoracic dysplasia 20 with polydactyly
A group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof.
MONDO:0018770
Jeune syndrome
is_a
MONDO:1060154
INTU-related skeletal ciliopathy
is_a
SRTD20
related
short-rib thoracic dysplasia 20 with polydactyly
exact