has material basis in germline mutation in NEK1 short-rib thoracic dysplasia 6 with or without polydactyly https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/short_rib_thoracic_dysplasia_6_with_or_without_polydactyly DOID:0110092 GARD:0015224 OMIM:263520 Majewski syndrome A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. UMLS:C0024507 NCIT:C122654 SRPS2A short-rib thoracic dysplasia 6 with or without polydactyly MEDGEN:44252 polydactyly with neonatal chondrodystrophy type II SRTD6 MONDO:0009894 short rib-polydactyly syndrome type II Jeune syndrome short rib-polydactyly syndrome, Majewski type