About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory