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Term:popliteal pterygium syndrome
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Accession:DOID:0060055 term browser browse the term
Definition:An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has material basis in mutations in the IRF6 gene on chromosome 1. (DO)
Synonyms:exact_synonym: Cleft Lip-Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies;   PPS;   facio-genito-popliteal syndrome;   faciogenitopopliteal syndrome;   popliteal web syndrome
 primary_id: MESH:C562509
 alt_id: OMIM:119500;   RDO:0012203
 xref: GARD:3242;   ORDO:1300;   ORDO:294963
For additional species annotation, visit the Alliance of Genome Resources.


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popliteal pterygium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:7240710
RGD:8554872
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:8554872
RGD:13592920
Popliteal Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      popliteal pterygium syndrome 2
        Popliteal Pterygium Syndrome, Lethal Type 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Musculoskeletal Abnormalities 1185
            Craniofacial Abnormalities 945
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 196
                  orofacial cleft 108
                    cleft lip 50
                      popliteal pterygium syndrome 2
                        Popliteal Pterygium Syndrome, Lethal Type 1
paths to the root