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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. (OMIM)
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;   RDO:0014881
For additional species annotation, visit the Alliance of Genome Resources.


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Pierpont syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1xr1 TBL1X receptor 1 ISO ClinVar Annotator: match by term: Pierpont syndrome
ClinVar Annotator: match by term: Plantar lipomatosis, unusual facies, and developmental delay
ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome
ClinVar
OMIM
PMID:9450851, PMID:18414213, PMID:22495309, PMID:23160955, PMID:24891185, PMID:25102098, PMID:25425123, PMID:25741868, PMID:26467025, PMID:26482601, PMID:26740553, PMID:26769062, PMID:27824329, PMID:28492532, PMID:28562391, PMID:28574232, PMID:28588275, PMID:28687524, PMID:30365874, PMID:30577886, PMID:31394400 NCBI chr 2:107,221,913...107,359,229
Ensembl chr 2:107,233,054...107,359,229
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Pierpont syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              Neurodevelopmental Disorders 4619
                Developmental Disabilities 692
                  Pierpont syndrome 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.