spondylometaphyseal dysplasia with corneal dystrophy Disease Ontology Browser

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spondylometaphyseal dysplasia with corneal dystrophy (DOID:0112303)
Alliance: disease page
Synonyms: SMDCD
Alt IDs: OMIM:618961
Definition: A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.

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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