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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:otofaciocervical syndrome
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Accession:EFO:MONDO:0008163 term browser browse the term
Definition:A rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.
Synonyms:exact_synonym: Fara-Chlupackova syndrome;   OFC syndrome
 related_synonym: familial oto-facio-cervical dysmorphia
 alt_id: MONDO:0008163
 xref: GARD:4169;   MEDGEN:322257;   MESH:C537074;   MESH:C563481;   MIM:PS166780;   ORDO:2792;   UMLS:C1833691
 see_also: https://rarediseases.info.nih.gov/diseases/2273/fara-chlupackova-syndrome" xsd:anyURI {source="GARD:0002273


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of development or morphogenesis 0
            otofaciocervical syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          otorhinolaryngologic disease 0
            mandibulofacial dysostosis 0
              otofaciocervical syndrome 0
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