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Preferred Name

Alagille syndrome
Synonyms

Alagille-Watson syndrome

arteriohepatic dysplasia
Definitions

autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis.
ID

http://purl.bioontology.org/ontology/CSP/5005-0002
altLabel

Alagille-Watson syndrome

arteriohepatic dysplasia
cui

C0085280
definition

autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis.
DID

5005-0002
Inverse of RB

http://purl.bioontology.org/ontology/CSP/4000-0147

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/1254-7727

http://purl.bioontology.org/ontology/CSP/0724-8315
Inverse of RO

http://purl.bioontology.org/ontology/CSP/1254-7792
notation

5005-0002
prefLabel

Alagille syndrome
tui

T019
subClassOf

http://purl.bioontology.org/ontology/CSP/4000-0147

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/1254-7727

http://purl.bioontology.org/ontology/CSP/0724-8315
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http://purl.bioontology.org/ontology/MDRGER/10053870 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10053870 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D016738 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/31742004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003467 NDFRT CUI
http://purl.bioontology.org/ontology/SCTSPA/31742004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0085280 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/ICD10CM/Q44.71 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/PB635 RCD CUI
http://purl.bioontology.org/ontology/MESH/D016738 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-01203 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10053870 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/118450 OMIM CUI
http://nanbyodata.jp/ontology/NANDO_2200931 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200918 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_9245 CLO LOOM
http://purl.obolibrary.org/obo/DOID_9245 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007318 EFO LOOM
rgo:03961 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0007318 MONDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15538 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0017185 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.065 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_9245 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9245 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9245 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9245 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_9245 FNS-H LOOM
http://purl.obolibrary.org/obo/MONDO_0007318 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0007318 KTAO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35139 NCIT LOOM
http://purl.bioontology.org/ontology/RCTV2/PB63500 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0085280 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.240.400.044 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q44.71 ICD10CM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036560 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.552.150.125 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15100 DERMLEX LOOM
http://purl.bioontology.org/ontology/RCD/PB635 RCD LOOM
http://purl.bioontology.org/ontology/MESH/D016738 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016738 RH-MESH LOOM
http://purl.jp/bio/4/id/200906054687528874 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.051 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.130.120.135.250.125 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C35139 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.240.400.044 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9245 NATPRO LOOM
http://www.orpha.net/ORDO/Orphanet_52 ORDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0085280 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10053870 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_253 HRDO LOOM