spondyloepiphyseal dysplasia Kondo-Fu type

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Summary

Literature (0)

DOID:0112283 - spondyloepiphyseal dysplasia Kondo-Fu type

Disease Ontology Definition:A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1.

Synonyms: SED with elevated blood lysosomal enzymes, SEDKF,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), spondyloepiphyseal dysplasia (is_a)