short-rib thoracic dysplasia 9 with or without polydactyly
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
MONDO:0019741
familial cystic renal disease
excluded_subClassOf
MONDO:0020240
obsolete syndromic retinitis pigmentosa (obsolete MONDO:0020240)
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0018770
Jeune syndrome
is_a
MONDO:0019695
acromelic dysplasia
is_a
MONDO:0100509
IFT140-related recessive ciliopathy
is_a
Conorenal syndrome
exact
Mainzer Saldino syndrome
exact
Mainzer-Saldino syndrome
exact
SRTD9
exact
Saldino-Mainzer syndrome
exact
renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome
exact
short-rib thoracic dysplasia 9 with or without polydactyly
exact