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Disease Ontology Browser
craniofacial-deafness-hand syndrome (DOID:0111336)
Alliance: disease page
Synonyms: CDHS; Sommer-Young-Wee-Frye syndrome
Alt IDs: OMIM:122880, MESH:C536453, ORDO:1529, UMLS_CUI:C1852510
Definition: A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory