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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:0081362 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that is characteried by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. (DO)
Synonyms:exact_synonym: PRPTS;   Plantar lipomatosis, unusual facies, and developmental delay;   Plantar lipomatosis-facial dysmorphism-developmental delay syndrome;   Plantar lipomatosis-unusual facies-developmental delay syndrome
 broad_synonym: TBL1XR1-RELATED DISORDER;   TBL1XR1-RELATED NEURODEVELOPMENTAL DISORDERS, INCLUDING PIERPONT SYNDROME
 primary_id: MESH:C566559
 alt_id: DOID:9007450;   OMIM:602342
 xref: ORDO:487825


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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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome
OMIM:602342		 OMIM
CTD
ClinVar
MouseDO		 PMID:9450851 PMID:9536098 PMID:16199547 PMID:16492805 PMID:17576681 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 21122
    syndrome 10725
      Pierpont syndrome 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          brain disease 11587
            disease of mental health 8249
              developmental disorder of mental health 5493
                specific developmental disorder 4448
                  intellectual disability 4253
                    autosomal dominant intellectual developmental disorder 415
                      Pierpont syndrome 1
paths to the root