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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:familial clubfoot with or without associated lower limb anomalies
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Accession:EFO:MONDO:0016046 term browser browse the term
Definition:Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.
Synonyms:exact_synonym: Orphanet:199315;   http://identifiers.org/medgen/1843133;   http://linkedlifedata.com/resource/umls/id/C5680522
 alt_id: MONDO:0016046
 xref: GARD:17093;   MEDGEN:1843133;   ORDO:199315;   UMLS:C5680522


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Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            familial clubfoot with or without associated lower limb anomalies 0
              clubfoot + 0
              familial clubfoot due to 17q23.1q23.2 microduplication 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of development or morphogenesis 0
            developmental defect during embryogenesis 0
              congenital limb malformation 0
                familial clubfoot with or without associated lower limb anomalies 0
                  clubfoot + 0
                  familial clubfoot due to 17q23.1q23.2 microduplication 0
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