spondyloepiphyseal dysplasia tarda with characteristic facies Disease Ontology Browser

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Disease Ontology Browser

spondyloepiphyseal dysplasia tarda with characteristic facies (DOID:0112289)
Alliance: disease page
Alt IDs: OMIM:600093, MESH:C564003
Definition: A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay.

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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