asphyxiating thoracic dystrophy 2
Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.
MONDO:0018770
Jeune syndrome
is_a
ATD2
exact
IFT80 Jeune syndrome
exact
Jeune syndrome caused by mutation in IFT80
exact
SRTD2
exact
asphyxiating thoracic dystrophy 2
exact
asphyxiating thoracic dystrophy type 2
exact
short-rib thoracic dysplasia 2 with or without polydactyly
exact