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HAMARTOMA SYNDROME [1 record]
Record 1 - internal organization data 2019-02-13
Record 1, English
Record 1, Subject field(s)
- Human Diseases
- Genetics
Record 1, Main entry term, English
- Cowden disease
1, record 1, English, Cowden%20disease
correct
Record 1, Abbreviations, English
- CD 2, record 1, English, CD
correct
Record 1, Synonyms, English
- Cowden’s disease 3, record 1, English, Cowden%26rsquo%3Bs%20disease
correct
- Cowden syndrome 4, record 1, English, Cowden%20syndrome
correct
- CS 4, record 1, English, CS
correct
- CS 4, record 1, English, CS
- hamartoma syndrome 5, record 1, English, hamartoma%20syndrome
correct
- multiple hamartoma syndrome 6, record 1, English, multiple%20hamartoma%20syndrome
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
An autosomal dominant disorder ... comprising a combination of ectodermal, mesodermal, and endodermal anomalies, ... characterized by development of multiple hamartomatous lesions, especially in the skin, oral mucosa, breast, thyroid, colon, and intestins, and ... associated with a high incidence of malignancies in the organs involved. 7, record 1, English, - Cowden%20disease
Record number: 1, Textual support number: 1 CONT
Cowden syndrome is caused by a mutation in the PTEN tumour suppressor gene. 8, record 1, English, - Cowden%20disease
Record 1, French
Record 1, Domaine(s)
- Maladies humaines
- Génétique
Record 1, Main entry term, French
- maladie de Cowden
1, record 1, French, maladie%20de%20Cowden
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- syndrome de Cowden 2, record 1, French, syndrome%20de%20Cowden
correct, masculine noun
- syndrome des hamartomes multiples 3, record 1, French, syndrome%20des%20hamartomes%20multiples
correct, masculine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Maladie systémique, à la fois cutanée et viscérale, associant aux lésions cutaneo-muqueuses (avant tout papuleuses) très caractéristiques, des multiples manifestations viscérales, notamment mammaires, thyroïdiennes, digestives, ovariennes et squelettales. 4, record 1, French, - maladie%20de%20Cowden
Record number: 1, Textual support number: 1 CONT
Le syndrome de Cowden est causé par une mutation du gène PTEN, un gène suppresseur de tumeur. 5, record 1, French, - maladie%20de%20Cowden
Record 1, Spanish
Record 1, Textual support, Spanish
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