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Metadata
ID	DOID:0110093
Name	short-rib thoracic dysplasia 13 with or without polydactyly
Definition	An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. https://www.ncbi.nlm.nih.gov/pubmed/25361962
Xrefs	ICD10CM:Q77.2 MIM:616300
Synonyms	SRTD13 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a asphyxiating thoracic dystrophy
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance