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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/OMIM/167415
http://purl.bioontology.org/ontology/OMIM/167415
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Preferred Name | PAIRED BOX GENE 8 |
Synonyms |
PAX8 POLYMORPHISM
PAX8/PPARG FUSION GENE
PAIRED DOMAIN GENE 8
PAX8
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
PAX8 POLYMORPHISM
PAX8/PPARG FUSION GENE
PAIRED DOMAIN GENE 8
PAX8
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
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prefLabel |
PAIRED BOX GENE 8
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Gene Symbol |
PAX8
|
notation |
167415
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Has allelic variant |
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|
OMIM MimType Value |
star
|
Semantic type UMLS property | |
OMIM Entry Type |
1
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type | |
MIMTYPEMEANING |
Gene with known sequence
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Gene Locus |
2q12-q14
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Phenotype of |
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tui |
T033
T019
T028
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cui |
C1833640
C4016307
C1869118
C1418277
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