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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:oculoauriculovertebral spectrum with radial defects
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Accession:EFO:MONDO:0007712 term browser browse the term
Definition: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.
Synonyms:exact_synonym: Orphanet:2549;   hemifacial microsomia-radial defects syndrome;   http://identifiers.org/medgen/67392;   http://identifiers.org/snomedct/726722009;   http://linkedlifedata.com/resource/umls/id/C0220681;   https://omim.org/entry/141400
 related_synonym: Goldenhar syndrome with ipsilateral radial defect;   Moeschler Clarren syndrome;   Oavs with radial defect;   hemifacial microsomia with radial defects;   microsomia hemifacial radial defects;   oculoauriculovertebral spectrum with radial defect
 alt_id: MONDO:0007712
 xref: GARD:3653;   MEDGEN:67392;   MIM:141400;   ORDO:2549;   SCTID:726722009;   UMLS:C0220681


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            oculoauriculovertebral spectrum with radial defects 0
              craniofacial microsomia 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                bone development disease 0
                  dysostosis 0
                    oculoauriculovertebral spectrum with radial defects 0
                      craniofacial microsomia 0
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