FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:Pierpont syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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:11554173
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Pierpont syndrome 1
Path 2
Term Annotations click to browse term
  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
paths to the root