OBO ID: DOID:0110086
Term Name: asphyxiating thoracic dystrophy 2 Search Ontology:
Synonyms:
  • ATD2
  • short-rib thoracic dysplasia 2 with or without polydactyly
  • SRTD2
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. https://www.ncbi.nlm.nih.gov/pubmed/17468754
References:
Ontology: Human Disease   ( DOID:0110086 )
Relationships
is a type of:
OTHER asphyxiating thoracic dystrophy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly 611263
ZEBRAFISH MODELS
Fish Conditions Citations
WT + MO1-ift80 standard conditions Beales et al., 2007
PHENOTYPE No data available

CITATIONS (1)
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