OBO ID: DOID:0110087
Term Name: asphyxiating thoracic dystrophy 3 Search Ontology:
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 asphyxiating thoracic dystrophy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly 613091
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.