asphyxiating thoracic dystrophy 2
Disease
asphyxiating thoracic dystrophy 2
- Definition
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25.
- Synonyms
- ATD2
- short-rib thoracic dysplasia 2 with or without polydactyly
- Cross References
- Parent Terms
- Child Terms
- None
- Sources of Associations
Associated Genes
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