ONTOLOGY REPORT - ANNOTATIONS


Term:Pierpont syndrome
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Accession:DOID:9007450 term browser browse the term
Definition:A multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies. (OMIM)
Synonyms:exact_synonym: PRPTS;   Plantar lipomatosis, unusual facies, and developmental delay
 primary_id: MESH:C566559
 alt_id: OMIM:602342;   RDO:0014881
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Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
RGD:7240710

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  disease 14875
    syndrome 4220
      Pierpont syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              Neurodevelopmental Disorders 2756
                Developmental Disabilities 342
                  Pierpont syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.