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- B0797399d28a33fd2b25489e0dd28a6c3 hasDbXref "Orphanet:2549" @default.
- B0797399d28a33fd2b25489e0dd28a6c3 type Axiom @default.
- B0797399d28a33fd2b25489e0dd28a6c3 annotatedProperty IAO_0000115 @default.
- B0797399d28a33fd2b25489e0dd28a6c3 annotatedSource MONDO_0007712 @default.
- B0797399d28a33fd2b25489e0dd28a6c3 annotatedTarget "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported." @default.