asphyxiating thoracic dystrophy 3
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
MONDO:0018770
Jeune syndrome
is_a
ATD3
exact
DYNC2H1-related short rib thoracic dysplasia
exact
SRPS type 1
exact
SRPS type 3
exact
SRPS1
exact
SRPS2B
exact
SRPS3
exact
SRTD3
exact
Saldino-Noonan syndrome
exact
Verma-Naumoff syndrome
exact
asphyxiating thoracic dystrophy 3
exact
asphyxiating thoracic dystrophy type 3
exact
polydactyly with neonatal chondrodystrophy type 1
exact
polydactyly with neonatal chondrodystrophy type III
exact
polydactyly with neonatal chondrodystrophy, type 3
exact
short rib polydactyly syndrome Verma Naumoff type
exact
short rib-polydactyly syndrome Saldino-Noonan type
exact
short rib-polydactyly syndrome type 1
exact
short rib-polydactyly syndrome type 3
exact
short rib-polydactyly syndrome type III
exact
short rib-polydactyly syndrome, type 2B
exact
short-rib thoracic dysplasia 3 with or without polydactyly
exact
type I short rib polydactyly syndrome
exact