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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Neoplastic Syndromes, Hereditary > Hamartoma Syndrome, Multiple
Neoplasms > Neoplastic Syndromes, Hereditary > Hamartoma Syndrome, Multiple
Neoplasms > Neoplasms, Multiple Primary > Hamartoma Syndrome, Multiple
Neoplasms > Hamartoma > Hamartoma Syndrome, Multiple

Terme préférentiel

Hamartoma Syndrome, Multiple  

Type

  • mesh:Descriptor

Définition

  • A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.

Concept générique

Concepts spécifiques

Synonyme(s)

  • Cowden Disease
  • Cowden's Disease
  • Cowden's Syndrome
  • Cowden Syndrome
  • Multiple Hamartoma Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-C36W05W6-N

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RDF/XML TURTLE JSON-LD Date de création 23/06/1986, dernière modification le 29/06/2018