OBO ID: DOID:0110088
Term Name: asphyxiating thoracic dystrophy 4 Search Ontology:
Synonyms:
  • ATD4
  • short-rib thoracic dysplasia 4 with or without polydactyly
  • SRTD4
Definition: An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. https://www.ncbi.nlm.nih.gov/pubmed/21258341
References:
Ontology: Human Disease   ( DOID:0110088 )
OTHER asphyxiating thoracic dystrophy 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TTC21B Short-rib thoracic dysplasia 4 with or without polydactyly 613819
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None