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Disease Ontology Browser
Ritscher-Schinzel syndrome 1 (DOID:0060571)
Alliance: disease page
Alt IDs: OMIM:220210, ORDO:7
Definition: A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.

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
MGI 6.20
The Jackson Laboratory