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Disease Ontology Browser
Keipert syndrome (DOID:0111842)
Alliance: disease page
Synonyms: KPTS; nasodigitoacoustic syndrome
Alt IDs: OMIM:301026, MESH:C538337, NCI:C186306, ORDO:2662, UMLS_CUI:C1850627
Definition: A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.

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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory