Term Name: | asphyxiating thoracic dystrophy 3 |
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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 ) |