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Disease Ontology Browser
congenital facial palsy with ptosis and velopharyngeal dysfunction (DOID:0070743)
Alliance: disease page
Synonyms: FPVEPD
Alt IDs: OMIM:617732, UMLS_CUI:C4540277
Definition: A syndrome characterized by variable congenital nonprogressive bilateral facial palsy, velopharyngeal dysfunction, and ptosis, without limitation of ocular abduction, limb abnormalities, or impaired cognition that has_material_basis_in heterozygous mutation in the TUBB6 gene on chromosome 18p11.

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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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05/26/2026
MGI 6.24 		The Jackson Laboratory