short-rib thoracic dysplasia 7 with or without polydactyly
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
MONDO:0013127
asphyxiating thoracic dystrophy 3
excluded_subClassOf
MONDO:0018770
Jeune syndrome
is_a
SRPS5
exact
SRTD7
exact
short rib-polydactyly syndrome type 5
exact
short rib-polydactyly syndrome, type 5
exact
short-rib thoracic dysplasia 7 with or without polydactyly
exact