"Majewski syndrome"@en . _:vb50942499 . . _:vb50942499 . _:vb50942499 . "DOID:0110092"^^ . "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33."^^ . "SRTD6"@en . _:vb50942499 . "short-rib thoracic dysplasia 6 with or without polydactyly"^^ . "short rib-polydactyly syndrome type IIA"@en . "ICD10CM:Q77.2"^^ . . _:vb50942499 . "disease_ontology"^^ . "OMIM:263520"^^ . . "SRPS2A"@en . . "polydactyly with neonatal chondrodystrophy, type II"@en .