Search Ontology:
Human Disease

asphyxiating thoracic dystrophy 2

Term ID
DOID:0110086
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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