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Metadata
ID	DOID:0110096
Name	short-rib thoracic dysplasia 14 with polydactyly
Definition	An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. https://www.ncbi.nlm.nih.gov/pubmed/26166481
Xrefs	ICD10CM:Q04.3 OMIM:616546
Synonyms	SRTD14 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a asphyxiating thoracic dystrophy