ALAGILLE SYNDROME 1
ALAGILLE SYNDROME
ALAGILLE-WATSON SYNDROME
AWS
ARTERIOHEPATIC DYSPLASIA
ALGS
AHD
ALGS1
CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS
HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
http://purl.bioontology.org/ontology/OMIM/118450
C1956125
C0085280
20p12
DCHE
JAG1
AGS1
CMT2HH
http://purl.bioontology.org/ontology/OMIM/MTHU036567
http://purl.bioontology.org/ontology/OMIM/MTHU000229
http://purl.bioontology.org/ontology/OMIM/MTHU058179
http://purl.bioontology.org/ontology/OMIM/MTHU036427
http://purl.bioontology.org/ontology/OMIM/MTHU018966
http://purl.bioontology.org/ontology/OMIM/MTHU067055
http://purl.bioontology.org/ontology/OMIM/MTHU036561
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU001452
http://purl.bioontology.org/ontology/OMIM/MTHU036560
http://purl.bioontology.org/ontology/OMIM/MTHU018963
http://purl.bioontology.org/ontology/OMIM/MTHU003224
http://purl.bioontology.org/ontology/OMIM/MTHU067056
http://purl.bioontology.org/ontology/OMIM/MTHU074616
http://purl.bioontology.org/ontology/OMIM/MTHU002677
http://purl.bioontology.org/ontology/OMIM/MTHU004590
http://purl.bioontology.org/ontology/OMIM/MTHU018961
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU004827
http://purl.bioontology.org/ontology/OMIM/MTHU018959
http://purl.bioontology.org/ontology/OMIM/MTHU009436
http://purl.bioontology.org/ontology/OMIM/MTHU005530
http://purl.bioontology.org/ontology/OMIM/MTHU007333
http://purl.bioontology.org/ontology/OMIM/MTHU000204
http://purl.bioontology.org/ontology/OMIM/MTHU018957
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU030731
http://purl.bioontology.org/ontology/OMIM/MTHU015095
http://purl.bioontology.org/ontology/OMIM/MTHU014939
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU018965
http://purl.bioontology.org/ontology/OMIM/MTHU041200
http://purl.bioontology.org/ontology/OMIM/MTHU001311
http://purl.bioontology.org/ontology/OMIM/MTHU002090
http://purl.bioontology.org/ontology/OMIM/MTHU074615
http://purl.bioontology.org/ontology/OMIM/MTHU036562
http://purl.bioontology.org/ontology/OMIM/MTHU004894
http://purl.bioontology.org/ontology/OMIM/MTHU012768
http://purl.bioontology.org/ontology/OMIM/MTHU012678
http://purl.bioontology.org/ontology/OMIM/MTHU006717
http://purl.bioontology.org/ontology/OMIM/MTHU036563
http://purl.bioontology.org/ontology/OMIM/MTHU009726
http://purl.bioontology.org/ontology/OMIM/MTHU000155
http://purl.bioontology.org/ontology/OMIM/MTHU018962
http://purl.bioontology.org/ontology/OMIM/MTHU013906
http://purl.bioontology.org/ontology/OMIM/MTHU014120
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU006154
http://purl.bioontology.org/ontology/OMIM/MTHU010541
http://purl.bioontology.org/ontology/OMIM/MTHU030735
http://purl.bioontology.org/ontology/OMIM/MTHU008315
http://purl.bioontology.org/ontology/OMIM/MTHU013567
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU036565
http://purl.bioontology.org/ontology/OMIM/MTHU018956
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU018967
http://purl.bioontology.org/ontology/OMIM/MTHU000264
http://purl.bioontology.org/ontology/OMIM/MTHU036449
http://purl.bioontology.org/ontology/OMIM/MTHU002081
http://purl.bioontology.org/ontology/OMIM/MTHU002343
http://purl.bioontology.org/ontology/OMIM/MTHU014956
http://purl.bioontology.org/ontology/OMIM/MTHU012160
http://purl.bioontology.org/ontology/OMIM/MTHU074617
http://purl.bioontology.org/ontology/OMIM/MTHU010502
http://purl.bioontology.org/ontology/OMIM/MTHU011786
http://purl.bioontology.org/ontology/OMIM/MTHU018968
http://purl.bioontology.org/ontology/OMIM/MTHU053573
http://purl.bioontology.org/ontology/OMIM/MTHU018964
http://purl.bioontology.org/ontology/OMIM/MTHU008946
Phenotype description, molecular basis known.
118450
3
pound
Caused by mutation in the jagged 1 gene (JAG1, 601920.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Variable expression [MISCELLANEOUS]
Prevalence of 1 in 70,000 [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
T047
T019