Term Name: asphyxiating thoracic dystrophy 3
Synonyms: ATD3, polydactyly with neonatal chondrodystrophy, type I, polydactyly with neonatal chondrodystrophy, type III, Saldino-Noonan syndrome, short rib-polydactyly syndrome, type I, short rib-polydactyly syndrome, type IIB, short-rib thoracic dysplasia 3 with or without polydactyly, SRPS1, SRPS2B, SRPS3, SRTD3, Verma-Naumoff syndrome
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
Ontology: Human Disease [DOID:0110087]   ( DOID:0110087 )

Relationships
is a type of: asphyxiating thoracic dystrophy autosomal recessive disease