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orofaciodigital syndrome V

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
Uniprot Description A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability.
Disease Ontology Description An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
Mondo Term and Equivalent IDs
MONDO:0008267:  orofaciodigital syndrome V
GARD:0004120: 
MESH:C557819: 
Orphanet:2919: 
SCTID:722105002: 
UMLS:C1868118: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)