Term Name:	spondyloepiphyseal dysplasia Kondo-Fu type
Synonyms:	SED with elevated blood lysosomal enzymes, SEDKF
Definition:	A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1.
Ontology:	Human Disease [DOID:0112283]   ( DOID:0112283 )