DISEASES

Disease-gene associations mined from literature

Human genes for short-rib thoracic dysplasia 9 with or without polydactyly

Short-rib thoracic dysplasia 9 with or without polydactyly [DOID:0110097]

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.

Synonyms:  short-rib thoracic dysplasia 9 with or without polydactyly,  DOID:0110097,  shortrib thoracic dysplasia 9 with or without polydactyly,  SRTD9,  renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia ...