Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/610205 http://purl.bioontology.org/ontology/OMIM/610205
Preferred Name	ALAGILLE SYNDROME 2
Synonyms	ALGS2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ALGS2
prefLabel	ALAGILLE SYNDROME 2
Gene Symbol	NOTCH2 HJCYS AGS2
notation	610205
Scope Statement	Caused by mutation in the Notch receptor 2 gene (NOTCH2, 600275.0001) [MOLECULAR BASIS] Variable phenotype [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU005530 http://purl.bioontology.org/ontology/OMIM/MTHU026268 http://purl.bioontology.org/ontology/OMIM/MTHU036416 http://purl.bioontology.org/ontology/OMIM/MTHU015095 http://purl.bioontology.org/ontology/OMIM/MTHU014939 http://purl.bioontology.org/ontology/OMIM/MTHU001440 http://purl.bioontology.org/ontology/OMIM/MTHU006717 http://purl.bioontology.org/ontology/OMIM/MTHU002674 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU036916 http://purl.bioontology.org/ontology/OMIM/MTHU005771 http://purl.bioontology.org/ontology/OMIM/MTHU001613 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU007298 http://purl.bioontology.org/ontology/OMIM/MTHU011786 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	1p12
tui	T047
cui	C1857761

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