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Disease Ontology Browser
spondyloepiphyseal dysplasia Kondo-Fu type (DOID:0112283)
Alliance: disease page
Synonyms: 'SED with elevated blood lysosomal enzymes'; 'SEDKF'
Alt IDs: OMIM:618392
Definition: A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in MBTPS1 on chromosome 16q23.3-q24.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/14/2022
MGI 6.19
The Jackson Laboratory