Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

PAIRED BOX GENE 8

Synonyms

PAIRED DOMAIN GENE 8

ID

http://purl.bioontology.org/ontology/OMIM/167415

altLabel

PAIRED DOMAIN GENE 8

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2

PAX8/PPARG FUSION GENE

PAX8

PAX8 POLYMORPHISM

cui

C1869118

C1418277

C1833640

C4016307

Gene Locus

2q12-q14

Gene Symbol

PAX8

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/167415.0001

http://purl.bioontology.org/ontology/OMIM/167415.0003

http://purl.bioontology.org/ontology/OMIM/167415.0002

http://purl.bioontology.org/ontology/OMIM/167415.0007

http://purl.bioontology.org/ontology/OMIM/167415.0008

http://purl.bioontology.org/ontology/OMIM/167415.0004

http://purl.bioontology.org/ontology/OMIM/167415.0005

http://purl.bioontology.org/ontology/OMIM/167415.0006

MIMTYPEMEANING

Gene with known sequence

notation

167415

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

PAIRED BOX GENE 8

tui

T028

T019

T033

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http://purl.bioontology.org/ontology/MESH/C566852 Medical Subject Headings CUI