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RGD uses the Human Disease Ontology (DO, 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:Turnpenny-Fry Syndrome
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Accession:DOID:9001203 term browser browse the term
Definition:Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations. TPFS is caused by heterozygous mutation in the PCGF2 gene on chromosome 17q12. (OMIM)
 primary_id: OMIM:618371
For additional species annotation, visit the Alliance of Genome Resources.

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Turnpenny-Fry Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Turnpenny-fry syndrome OMIM
PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:28492532 More... NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Pathological Conditions, Signs and Symptoms 11166
      Pathologic Processes 7534
        Growth Disorders 855
          Turnpenny-Fry Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3879
                    syndromic intellectual disability 664
                      Turnpenny-Fry Syndrome 1
paths to the root