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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:familial median cleft of the upper and lower lips
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Accession:EFO:MONDO:0014388 term browser browse the term
Definition:Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.
Synonyms:related_synonym: OFC14;   orofacial cleft 14
 alt_id: MONDO:0014388
 xref: DOID:0080407;   GARD:17663;   MEDGEN:863033;   MIM:615892;   ORDO:401942;   UMLS:C4014596



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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of development or morphogenesis 0
            familial median cleft of the upper and lower lips 0
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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
                skull disorder 0
                  disorder of facial skeleton 0
                    orofacial cleft 0
                      familial median cleft of the upper and lower lips 0
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