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Metadata
ID	DOID:0110094
Name	short-rib thoracic dysplasia 8 with or without polydactyly
Definition	An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. https://www.ncbi.nlm.nih.gov/pubmed/23910462
Xrefs	ICD10CM:Q77.2 OMIM:615503
Synonyms	short rib-polydactyly syndrome type VI [EXACT] SRPS6 [EXACT] SRTD8 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a asphyxiating thoracic dystrophy