Term Name:	short-rib thoracic dysplasia 6 with or without polydactyly
Synonyms:	Majewski syndrome, polydactyly with neonatal chondrodystrophy, type II, short rib-polydactyly syndrome type IIA, SRPS2A, SRTD6
Definition:	An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.
Ontology:	Human Disease [DOID:0110092]   ( DOID:0110092 )