DISEASES

Disease-gene associations mined from literature

Human genes for short-rib thoracic dysplasia 6 with or without polydactyly

Short-rib thoracic dysplasia 6 with or without polydactyly [DOID:0110092]

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.

Synonyms:  short-rib thoracic dysplasia 6 with or without polydactyly,  DOID:0110092,  shortrib thoracic dysplasia 6 with or without polydactyly,  Majewski syndrome,  polydactyly with neonatal chondrodystrophy, type II ...