loading...| Preferred Name | Alagille syndrome | |
| Synonyms |
Alagille-Watson syndrome Syndromic bile duct paucity Arteriohepatic dysplasia |
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| Definitions |
A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_52 |
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| alternative_term |
Alagille-Watson syndrome Syndromic bile duct paucity Arteriohepatic dysplasia |
|
| definition |
A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. |
|
| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52 |
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| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal dominant |
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| hasDbXref |
MeSH:D016738 ICD-11:LB20.0Y MedDRA:10053870 OMIM:118450 UMLS:C0085280 ICD-10:Q44.7 OMIM:610205 |
|
| label |
Alagille syndrome |
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| notation |
ORPHA:52 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_506210 http://www.orpha.net/ORDO/Orphanet_156532 http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_93547 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_156607 http://www.orpha.net/ORDO/Orphanet_101941 |
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| prefixIRI |
ORDO:Orphanet_52 |
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| prefLabel |
Alagille syndrome |
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| present_in |
Europe AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown United States AND has_birth_prevalence_average_value : 2.7 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_506210 http://www.orpha.net/ORDO/Orphanet_156532 http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_93547 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_156607 http://www.orpha.net/ORDO/Orphanet_101941 |
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| subClassOf |