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ONTOLOGY REPORT - ANNOTATIONS


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;   NCI:C118786;   ORDO:1300;   ORDO:294963
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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 15619
    syndrome 5154
      popliteal pterygium syndrome 2
        Popliteal Pterygium Syndrome, Lethal Type 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Congenital Abnormalities 3592
          Musculoskeletal Abnormalities 1302
            Craniofacial Abnormalities 1046
              Maxillofacial Abnormalities 207
                Jaw Abnormalities 204
                  orofacial cleft 114
                    cleft lip 50
                      popliteal pterygium syndrome 2
                        Popliteal Pterygium Syndrome, Lethal Type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.