loading...| Preferred Name |
Alagille syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_52 |
| alternative_term |
Syndromic bile duct paucity Arteriohepatic dysplasia Alagille-Watson syndrome |
| 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 |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
OMIM:610205 MedDRA:10053870 ICD-11:LB20.0Y ICD-10:Q44.7 MeSH:D016738 UMLS:C0085280 OMIM:118450 |
| label |
Alagille syndrome |
| notation |
ORPHA:52 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_156607 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_156532 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_93547 http://www.orpha.net/ORDO/Orphanet_519276 http://www.orpha.net/ORDO/Orphanet_108973 |
| prefixIRI |
ORDO:Orphanet_52 |
| prefLabel |
Alagille syndrome |
| present_in |
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 Europe AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 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 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_156607 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_156532 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_93547 http://www.orpha.net/ORDO/Orphanet_519276 http://www.orpha.net/ORDO/Orphanet_108973 |
| subClassOf |