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ENPopliteal Pterygium Syndrome (PPS)
Alias:
Autosomal Dominant Popliteal Pterygium Syndrome
Facio-Genito-Popliteal Syndrome
Popliteal Web Syndrome
Pps
Cleft Lip/palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies
Faciogenitopopliteal Syndrome
Popliteal Pterygium Syndrome 1
Popliteal Pterygium
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Popliteal Pterygium Syndrome, also known as autosomal dominant popliteal pterygium syndrome, is related to van der woude syndrome 1 and syngnathia. An important gene associated with Popliteal Pterygium Syndrome is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are NF-kappaB Signaling and Wnt / Hedgehog / Notch. Affiliated tissues include skin and uterus, and related phenotypes are joint stiffness and cleft palate
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MALACARDS
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