ONTOLOGY REPORT - ANNOTATIONS


Term:Popliteal Pterygium Syndrome, Lethal Type
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Accession:DOID:9001939 term browser browse the term
Synonyms:exact_synonym: Aslan Multiple Pterygium Syndrome;   BPS;   Bartsocas-Papas Syndrome;   Multiple Pterygium Syndrome, Aslan Type;   Pterygium, Popliteal, Lethal Type
 primary_id: MESH:C564874
 alt_id: OMIM:263650;   RDO:0013690
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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 14919
    syndrome 4713
      popliteal pterygium syndrome 2
        Popliteal Pterygium Syndrome, Lethal Type 1
Path 2
Term Annotations click to browse term
  disease 14919
    Developmental Diseases 7761
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7082
        Congenital Abnormalities 3196
          Musculoskeletal Abnormalities 1196
            Craniofacial Abnormalities 954
              Maxillofacial Abnormalities 202
                Jaw Abnormalities 199
                  orofacial cleft 110
                    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.