Kenny-Caffey syndrome type 1 Disease Ontology Browser

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Disease Ontology Browser

Kenny-Caffey syndrome type 1 (DOID:0080722)
Alliance: disease page
Alt IDs: OMIM:244460, ORDO:93324
Definition: A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42.

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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