spondyloepiphyseal dysplasia Kondo-Fu type Disease Ontology Browser

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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 the MBTPS1 gene 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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