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Metadata
ID	DOID:0112285
Name	autosomal dominant spondyloepiphyseal dysplasia tarda
Definition	A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/1353665/, https://pubmed.ncbi.nlm.nih.gov/3213464/
Xrefs	GARD:10624 MIM:184100
Subsets	DO_rare_slim
Parent Relationships	is_a spondyloepiphyseal dysplasia tarda is_a autosomal dominant disease