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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Cerebriform connective tissue nevus
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Accession:HP:6000009 term browser browse the term
Definition:The cerebriform connective tissue nevus (CCTN) is one of the most characteristic skin findings. It commonly occurs on the soles of the feet, and frequently causes problems because of pain, pruritus, infection, bleeding,exudation, odor, and walking impairment.
Comment:The cerebriform connective tissue nevus is frequently observed in patients with Proteus syndrome and it is an important specific criterion for diagnosis.


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Cerebriform connective tissue nevus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:176920 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
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  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the musculoskeletal system 5574
        Abnormality of connective tissue 1749
          Cerebriform connective tissue nevus 1
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