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Disease Ontology Browser
cerebrooculofacioskeletal syndrome 4 (DOID:0080914)
Alliance: disease page
Alt IDs: OMIM:610758, MESH:C565184
Definition: A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13.


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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
12/10/2024
MGI 6.24
The Jackson Laboratory