short-rib thoracic dysplasia 14 with polydactyly
An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
MONDO:0018342
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
is_a
MONDO:0018770
Jeune syndrome
is_a
SRTD14
exact
short-rib thoracic dysplasia 14 with polydactyly
exact