short rib-polydactyly syndrome, type ISRPS1polydactyly with neonatal chondrodystrophy, type IIIshort rib-polydactyly syndrome, type IIBVerma-Naumoff syndromeATD3Saldino-Noonan syndromeshort-rib thoracic dysplasia 3 with or without polydactylypolydactyly with neonatal chondrodystrophy, type ISRPS2BSRPS3SRTD3
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.