Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

JAGGED 1

Synonyms

TETRALOGY OF FALLOT

ID

http://purl.bioontology.org/ontology/OMIM/601920

altLabel

TETRALOGY OF FALLOT

DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON (1 family)

DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON

JAG1

ALAGILLE SYNDROME 1

JAGL1

cui

C1956125

C0039685

C1866053

C1416525

C4225567

Gene Locus

20p12

Gene Symbol

AGS1

JAG1

AHD

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601920.0006

http://purl.bioontology.org/ontology/OMIM/601920.0002

http://purl.bioontology.org/ontology/OMIM/601920.0014

http://purl.bioontology.org/ontology/OMIM/601920.0007

http://purl.bioontology.org/ontology/OMIM/601920.0008

http://purl.bioontology.org/ontology/OMIM/601920.0011

http://purl.bioontology.org/ontology/OMIM/601920.0012

http://purl.bioontology.org/ontology/OMIM/601920.0010

http://purl.bioontology.org/ontology/OMIM/601920.0004

http://purl.bioontology.org/ontology/OMIM/601920.0003

http://purl.bioontology.org/ontology/OMIM/601920.0005

http://purl.bioontology.org/ontology/OMIM/601920.0009

http://purl.bioontology.org/ontology/OMIM/601920.0001

http://purl.bioontology.org/ontology/OMIM/601920.0013

MIMTYPEMEANING

Gene with known sequence and phenotype

notation

601920

OMIM Entry Type

4

OMIM MimType Value

plus

prefLabel

JAGGED 1

tui

T028

T019

T047

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Delete Mapping To Ontology Source
http://purl.bmicc.cn/ontology/ICD10CN/Q21.3 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/LNC/LP61782-6 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10/Q21.3 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/MESH/D016738 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566604 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D013771 Medical Subject Headings CUI