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ALAGILLE SYNDROME [1 record]
Record 1 - internal organization data 2012-07-20
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Alagille syndrome
1, record 1, English, Alagille%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
An autosomal dominant [disease] involving obstruction of the bile duct (cholestasis) and jaundice, lung anomalies (pulmonary stenosis), deformed vertebrae, arterial narrowness, deformed iris, altered eye pigmentation, facial anomalies, etcetera. 1, record 1, English, - Alagille%20syndrome
Record number: 1, Textual support number: 1 OBS
The biochemical defect is in the Notch-ligand, Jagged-1. In some cases, translocations or deletions of the region accompany it. The multiplicity of the symptoms has been considered as a contiguous gene syndrome. 1, record 1, English, - Alagille%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- syndrome d'Alagille
1, record 1, French, syndrome%20d%27Alagille
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
[Maladie autosomale caractérisée par] une cholestase chronique liée à une paucité des voies biliaires interlobulaires, une sténose périphérique des branches de l'artère pulmonaire, des vertèbres «en aile de papillon», un faciès caractéristique et un embryotoxon postérieur. 1, record 1, French, - syndrome%20d%27Alagille
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas varias
- Genética
Record 1, Main entry term, Spanish
- síndrome de Alagille
1, record 1, Spanish, s%C3%ADndrome%20de%20Alagille
correct, masculine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Trastorno genético, autosómico dominante, [...] se caracteriza por anomalías hepáticas, esqueléticas, renales, oculares, cardiovasculares y dismorfias faciales. 1, record 1, Spanish, - s%C3%ADndrome%20de%20Alagille
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