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Metadata
ID	DOID:0112283
Name	spondyloepiphyseal dysplasia Kondo-Fu type
Definition	A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. https://pubmed.ncbi.nlm.nih.gov/30046013/
Xrefs	MIM:618392
Synonyms	SED with elevated blood lysosomal enzymes [EXACT] SEDKF [EXACT]
Parent Relationships	is_a spondyloepiphyseal dysplasia is_a autosomal recessive disease