Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	NOTCH RECEPTOR 2
Synonyms	NOTCH2 HAJDU-CHENEY SYNDROME ALAGILLE SYNDROME 2 NOTCH, DROSOPHILA, HOMOLOG OF, 2
ID	http://purl.bioontology.org/ontology/OMIM/600275
altLabel	NOTCH2 HAJDU-CHENEY SYNDROME ALAGILLE SYNDROME 2 NOTCH, DROSOPHILA, HOMOLOG OF, 2
cui	C1417767 C1857761 C0917715
Gene Locus	1p12
Gene Symbol	NOTCH2 HJCYS AGS2
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/600275.0007 http://purl.bioontology.org/ontology/OMIM/600275.0001 http://purl.bioontology.org/ontology/OMIM/600275.0004 http://purl.bioontology.org/ontology/OMIM/600275.0006 http://purl.bioontology.org/ontology/OMIM/600275.0008 http://purl.bioontology.org/ontology/OMIM/600275.0005 http://purl.bioontology.org/ontology/OMIM/600275.0002 http://purl.bioontology.org/ontology/OMIM/600275.0003 http://purl.bioontology.org/ontology/OMIM/600275.0009
MIMTYPEMEANING	Gene with known sequence
notation	600275
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	NOTCH RECEPTOR 2
tui	T047 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D016738	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D031845	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D016738	MESH	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000011001	NDFRT	CUI
http://purl.bioontology.org/ontology/MESH/D031845	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/63122002	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/63122002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X78By	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A53	SNMI	CUI
http://www.orpha.net/ORDO/Orphanet_123858	ORDO	LOOM