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Metadata
ID	DOID:0112282
Name	spondyloepiphyseal dysplasia Kimberley type
Definition	A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. https://pubmed.ncbi.nlm.nih.gov/16080123/, https://pubmed.ncbi.nlm.nih.gov/1978986/
Xrefs	MESH:C564252 MIM:608361 ORDO:93283 SNOMEDCT_US_2023_03_01:719203001 UMLS_CUI:C1842149
Subsets	DO_rare_slim
Synonyms	SEDK [EXACT]
Parent Relationships	is_a spondyloepiphyseal dysplasia is_a autosomal dominant disease