Search Ontology:
Human Disease

asphyxiating thoracic dystrophy 3

Term ID
DOID:0110087
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. https://www.ncbi.nlm.nih.gov/pubmed/19442771
References
Ontology
Human Disease   ( DOID:0110087 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models