has material basis in germline mutation in DYNC2H1 asphyxiating thoracic dystrophy 3 https://github.com/monarch-initiative/mondo/issues/4148 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/8405 https://www.malacards.org/card/short_rib_polydactyly_syndrome_verma_naumoff_type_2 https://www.malacards.org/card/short_rib_thoracic_dysplasia_3_with_or_without_polydactyly short rib polydactyly syndrome Verma Naumoff type polydactyly with neonatal chondrodystrophy type 1 GARD:0015613 SCTID:254051008 SRTD3 ICD9:759.89 Verma-Naumoff syndrome DYNC2H1-related short rib thoracic dysplasia MONDO:0013127 short rib-polydactyly syndrome type III DOID:0110087 asphyxiating thoracic dystrophy type 3 SRPS type 1 SRPS type 3 Orphanet:93270 Orphanet:93271 SRPS3 short-rib thoracic dysplasia 3 with or without polydactyly MESH:C537602 SCTID:27330009 SRPS1 OMIM:613091 polydactyly with neonatal chondrodystrophy type III ATD3 DOID:0050549 MEDGEN:19860 short rib-polydactyly syndrome, type 2B short rib-polydactyly syndrome Saldino-Noonan type Saldino-Noonan syndrome short rib-polydactyly syndrome type 1 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. UMLS:C0036069 short rib-polydactyly syndrome type 3 NCIT:C163755 SRPS2B polydactyly with neonatal chondrodystrophy, type 3 asphyxiating thoracic dystrophy 3 type I short rib polydactyly syndrome Jeune syndrome