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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: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)
Synonyms:exact_synonym: NEUROCARDIOSKELETAL SYNDROME
 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
ClinVar
PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:30343942 NCBI chr10:85,631,829...85,642,591
Ensembl chr10:85,632,819...85,636,902
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Pathological Conditions, Signs and Symptoms 9888
      Pathologic Processes 6540
        Growth Disorders 765
          Turnpenny-Fry Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            disease of mental health 6932
              developmental disorder of mental health 4273
                specific developmental disorder 3532
                  intellectual disability 3385
                    syndromic intellectual disability 750
                      Turnpenny-Fry Syndrome 1
paths to the root