ONTOLOGY REPORT - ANNOTATIONS


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
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Turnpenny-Fry Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcgf2 polycomb group ring finger 2 JBrowse link 10 85,631,829 85,642,591 RGD:7240710
RGD:8554872

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Path 1
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  disease 14926
    Pathological Conditions, Signs and Symptoms 7745
      Pathologic Processes 4926
        Growth Disorders 244
          Turnpenny-Fry Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            disease of mental health 4348
              developmental disorder of mental health 2603
                specific developmental disorder 1767
                  intellectual disability 1596
                    syndromic intellectual disability 665
                      Turnpenny-Fry Syndrome 1
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