| Metadata | |
|---|---|
| ID | DOID:0110087 |
| Name | asphyxiating thoracic dystrophy 3 |
| Definition | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. https://www.ncbi.nlm.nih.gov/pubmed/19442771 |
| Xrefs | |
| Alternateids |
DOID:0050549 |
| Synonyms |
ATD3 [EXACT] polydactyly with neonatal chondrodystrophy, type I [EXACT] polydactyly with neonatal chondrodystrophy, type III [EXACT] Saldino-Noonan syndrome [EXACT] short rib-polydactyly syndrome, type I [EXACT] short rib-polydactyly syndrome, type IIB [EXACT] short-rib thoracic dysplasia 3 with or without polydactyly [EXACT] SRPS1 [EXACT] SRPS2B [EXACT] SRPS3 [EXACT] SRTD3 [EXACT] Verma-Naumoff syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |