Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	ALAGILLE SYNDROME 1
Synonyms	ALAGILLE SYNDROME ALAGILLE-WATSON SYNDROME AWS ARTERIOHEPATIC DYSPLASIA ALGS AHD ALGS1 CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
ID	http://purl.bioontology.org/ontology/OMIM/118450
altLabel	ALAGILLE SYNDROME ALAGILLE-WATSON SYNDROME AWS ARTERIOHEPATIC DYSPLASIA ALGS AHD ALGS1 CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
cui	C1956125 C0085280
Gene Locus	20p12
Gene Symbol	DCHE JAG1 AGS1 CMT2HH AHD
Has manifestation	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
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	118450
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ALAGILLE SYNDROME 1
Scope Statement	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]
tui	T047 T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D016738	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10053870	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/D016738	MESH	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/CSP/5005-0002	CRISP	CUI
http://purl.bioontology.org/ontology/MDRGER/10053870	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10053870	MEDDRA	CUI
http://purl.obolibrary.org/obo/OMIM_118450	CCO	LOOM
http://identifiers.org/omim/118450	REXO	LOOM
http://identifiers.org/omim/118450	GEXO	LOOM
http://identifiers.org/omim/118450	RETO	LOOM
http://id.nlm.nih.gov/mesh/D016738	MDM	LOOM