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ONTOLOGY REPORT - ANNOTATIONS


Term:Proteus syndrome
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Accession:DOID:13482 term browser browse the term
Definition:Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called 'elephant man', apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.
Synonyms:exact_synonym: Elephant Man Disease;   Proteus Like Syndrome;   Wiedemann's syndrome
 narrow_synonym: GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY ELATTOPROTEUS SYNDROME
 primary_id: MESH:D016715;   RDO:0003605
 alt_id: OMIM:176920
 xref: GARD:7475
For additional species annotation, visit the Alliance of Genome Resources.


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Proteus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:5509063
RGD:8554872
RGD:7240710
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    physical disorder 740
      Proteus syndrome 2
        Macrocephaly Mesodermal Hamartoma Spectrum 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      musculoskeletal system disease 3973
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              Proteus syndrome 2
                Macrocephaly Mesodermal Hamartoma Spectrum 0
paths to the root