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Metadata
ID	DOID:0110091
Name	short-rib thoracic dysplasia 10 with or without polydactyly
Definition	An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/24140113
Xrefs	ICD10CM:Q77.2 ICD10CM:Q87.5 OMIM:615630
Synonyms	SRTD10 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a asphyxiating thoracic dystrophy