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Metadata
ID	DOID:0080295
Name	short-rib thoracic dysplasia 19 with or without polydactyly
Definition	An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. https://pubmed.ncbi.nlm.nih.gov/27666822/
Xrefs	MIM:617895
Parent Relationships	is_a autosomal recessive disease is_a asphyxiating thoracic dystrophy
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance