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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
 alt_id: OMIM:176920
 xref: GARD:7475;   NCI:C85032
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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 15639
    syndrome 5218
      Multiple Hamartoma Syndrome 24
        Proteus syndrome 2
          Macrocephaly Mesodermal Hamartoma Spectrum 0
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              Proteus syndrome 2
                Macrocephaly Mesodermal Hamartoma Spectrum 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.