| Metadata | |
|---|---|
| ID | DOID:0070743 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070743 Copy |
| Name | congenital facial palsy with ptosis and velopharyngeal dysfunction |
| 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. https://pubmed.ncbi.nlm.nih.gov/29016863/ |
| Xrefs | |
| SKOS |
exactMatch MIM:617732 exactMatch UMLS_CUI:C4540277 |
| Subsets |
DO_rare_slim |
| Synonyms |
FPVEPD [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has symptom some facial paralysis |