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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Pierpont Syndrome
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Accession:DOID:9007450 term browser browse the term
Definition:PRPTS is 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. PRPTS is caused by heterozygous mutation in the TBL1XR1 gene on chromosome 3q26.
Synonyms:exact_synonym: PRPTS;   Plantar lipomatosis, unusual facies, and developmental delay
 broad_synonym: TBL1XR1-RELATED DISORDER;   TBL1XR1-RELATED NEURODEVELOPMENTAL DISORDERS, INCLUDING PIERPONT SYNDROME
 primary_id: MESH:C566559
 alt_id: OMIM:602342


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Pierpont Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1xr1 TBL1X/Y related 1 ISO ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome OMIM
ClinVar		 PMID:9450851 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Pierpont Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            disease of mental health 8203
              Neurodevelopmental Disorders 6751
                Developmental Disabilities 772
                  Pierpont Syndrome 1
paths to the root