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HAPLOINSUFFICIENCY [2 records]
Record 1 - internal organization data 2019-12-05
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Mowat–Wilson syndrome
1, record 1, English, Mowat%26ndash%3BWilson%20syndrome
correct
Record 1, Abbreviations, English
- MWS 1, record 1, English, MWS
correct
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Mowat–Wilson syndrome(MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. 2, record 1, English, - Mowat%26ndash%3BWilson%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- syndrome de Mowat-Wilson
1, record 1, French, syndrome%20de%20Mowat%2DWilson
correct, masculine noun
Record 1, Abbreviations, French
- SMW 1, record 1, French, SMW
correct, masculine noun
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Le syndrome de Mowat-Wilson (SMW) est un syndrome congénital associant une dysmorphie faciale, une maladie de Hirschsprung, des anomalies urogénitales, des malformations cardiaques, une agénésie du corps calleux et des anomalies ophtalmologiques. [...] Le SMW est dû à des mutations ou délétions du gène ZEB2. 2, record 1, French, - syndrome%20de%20Mowat%2DWilson
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2017-04-13
Record 2, English
Record 2, Subject field(s)
- Cytology
- Molecular Biology
- Biochemistry
Record 2, Main entry term, English
- haploinsufficiency
1, record 2, English, haploinsufficiency
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
A situation in which the total level of a gene product ... produced by the cell is about half of the normal level and is not sufficient to permit the cell to function normally. 2, record 2, English, - haploinsufficiency
Record 2, Key term(s)
- haplo-insufficiency
Record 2, French
Record 2, Domaine(s)
- Cytologie
- Biologie moléculaire
- Biochimie
Record 2, Main entry term, French
- haplo-insuffisance
1, record 2, French, haplo%2Dinsuffisance
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 DEF
Situation dans laquelle le produit d’un seul allèle, bien qu’actif, est synthétisé en quantité insuffisante pour permettre le fonctionnement normal de la cellule. 1, record 2, French, - haplo%2Dinsuffisance
Record number: 2, Textual support number: 1 OBS
haplo-insuffisance : terme et définition publiés au Journal officiel de la République française le 1er octobre 2016. 2, record 2, French, - haplo%2Dinsuffisance
Record 2, Spanish
Record 2, Textual support, Spanish
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