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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:familial long QT syndrome
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Accession:EFO:MONDO:0019171 term browser browse the term
Definition:A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.
Synonyms:exact_synonym: LQTS;   Long QT Syndrome;   Orphanet:101016;   Orphanet:768;   Romano-Ward long QT syndrome;   Romano-Ward syndrome;   congenital long QT syndrome;   hereditary long QT syndrome;   http://identifiers.org/medgen/685787;   http://identifiers.org/snomedct/442917000;   http://linkedlifedata.com/resource/umls/id/C1141890;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1208831985;   https://omim.org/phenotypicSeries/PS192500
 synonym: http://identifiers.org/meddra/10057926
 alt_id: MONDO:0019171
 xref: GARD:16547;   MEDGEN:685787;   MIM:PS192500;   MedDRA:10057926;   NANDO:2200228;   NORD:1675;   ORDO:101016;   ORDO:768;   SCTID:442917000;   UMLS:C1141890;   icd11.foundation:1208831985


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            familial long QT syndrome 0
              Andersen-Tawil syndrome 0
              Jervell and Lange-Nielsen syndrome + 0
              Timothy syndrome + 0
              long QT syndrome 1 0
              long QT syndrome 10 0
              long QT syndrome 11 0
              long QT syndrome 12 0
              long QT syndrome 13 0
              long QT syndrome 14 0
              long QT syndrome 15 0
              long QT syndrome 16 0
              long QT syndrome 3 0
              long QT syndrome 5 + 0
              long QT syndrome 9 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          cardiovascular disease 0
            heart disease 0
              congenital heart disease 0
                familial long QT syndrome 0
                  Andersen-Tawil syndrome 0
                  Jervell and Lange-Nielsen syndrome + 0
                  Timothy syndrome + 0
                  long QT syndrome 1 0
                  long QT syndrome 10 0
                  long QT syndrome 11 0
                  long QT syndrome 12 0
                  long QT syndrome 13 0
                  long QT syndrome 14 0
                  long QT syndrome 15 0
                  long QT syndrome 16 0
                  long QT syndrome 3 0
                  long QT syndrome 5 + 0
                  long QT syndrome 9 0
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