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Metadata
ID	DOID:0110090
Name	short-rib thoracic dysplasia 7 with or without polydactyly
Definition	An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. https://www.ncbi.nlm.nih.gov/pubmed/17935248, https://www.ncbi.nlm.nih.gov/pubmed/21473986
Xrefs	ICD10CM:Q77.2 OMIM:614091
Synonyms	short rib-polydactyly syndrome type V [EXACT] SRPS5 [EXACT] SRTD7 [EXACT]
Parent Relationships	is_a digenic disease is_a autosomal recessive disease is_a asphyxiating thoracic dystrophy