Human genes for short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly [DOID:0110090]
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
Synonyms: short-rib thoracic dysplasia 7 with or without polydactyly, DOID:0110090, shortrib thoracic dysplasia 7 with or without polydactyly, short rib-polydactyly syndrome type V, SRPS5 ...