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Chinchilla Research Resource Database


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

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Path 1
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  disease 14759
    syndrome 4210
      Pierpont syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              Neurodevelopmental Disorders 2745
                Developmental Disabilities 342
                  Pierpont syndrome 1
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