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Metadata
ID	DOID:0110086
Name	asphyxiating thoracic dystrophy 2
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
Xrefs	ICD10CM:Q77.2 MESH:C566982 OMIM:611263
Synonyms	ATD2 [EXACT] short-rib thoracic dysplasia 2 with or without polydactyly [EXACT] SRTD2 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a asphyxiating thoracic dystrophy