Term Name:	short-rib thoracic dysplasia 9 with or without polydactyly
Synonyms:	renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia, SRTD9
Definition:	An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
Ontology:	Human Disease [DOID:0110097]   ( DOID:0110097 )