loading...| Preferred Name |
Alagille Syndrome |
|
| Synonyms |
Syndrome, Cardiovertebral |
|
| Definitions |
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D016738 |
|
| altLabel |
Syndrome, Cardiovertebral Syndrome, Alagille's Paucity of Interlobular Bile Ducts Alagille Watson Syndrome Alagilles Syndrome Cardiovertebral Syndrome Syndrome, Alagille Syndrome, Watson Miller Hepatic Ductular Hypoplasia, Syndromatic Hepatofacioneurocardiovertebral Syndrome Hepatic Ductular Hypoplasia Arteriohepatic Dysplasia Dysplasia, Arteriohepatic Dysplasia, Arteriohepatic (AHD) Syndrome, Alagille Watson Alagille Syndrome 1 Watson Miller Syndrome Alagille Syndrome 2 Watson-Miller syndrome Watson Alagille Syndrome Hypoplasia, Hepatic Ductular Syndrome, Watson Alagille Cholestasis with Peripheral Pulmonary Stenosis Syndrome, Alagille-Watson Arteriohepatic Dysplasia (AHD) Alagille-Watson Syndrome Alagille's Syndrome Syndrome, Hepatofacioneurocardiovertebral syndrome, Watson-Miller Ductular Hypoplasia, Hepatic |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C1857761 C2930797 C1956125 C0085280 |
|
| DC |
1 |
|
| definition |
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). |
|
| DX |
19920101 |
|
| HN |
92 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
92 |
|
| MDA |
19910429 |
|
| MMR |
20130708 |
|
| MN |
C16.320.051 C06.552.150.125 C06.130.120.135.250.125 C16.131.240.400.044 C14.240.400.044 C16.131.077.065 |
|
| notation |
D016738 |
|
| prefLabel |
Alagille Syndrome |
|
| TERMUI |
T782149 T782150 T840848 T811985 T763950 T685804 T770104 T844113 T770105 T685803 T050177 T050178 T521201 T050179 T763947 T521200 T763946 T763949 |
|
| TH |
OMIM (2013) NLM (2004) NLM (2008) NLM (2012) NLM (1992) GHR (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 T019 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D002780 |