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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/153454
http://purl.bioontology.org/ontology/OMIM/153454
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Preferred Name | PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE |
Synonyms |
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
LH
LYSYL HYDROXYLASE
LYSINE HYDROXYLASE
LLH
LYSYL HYDROXYLASE 1
PLOD1
LH1
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
LH
LYSYL HYDROXYLASE
LYSINE HYDROXYLASE
LLH
LYSYL HYDROXYLASE 1
PLOD1
LH1
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prefLabel |
PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE
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Gene Symbol |
PLOD1
LH1
LLH
EDSKCL1
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notation |
153454
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Has allelic variant |
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OMIM MimType Value |
star
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Semantic type UMLS property | |
OMIM Entry Type |
1
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type | |
MIMTYPEMEANING |
Gene with known sequence
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Gene Locus |
1p36.3-p36.2
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Phenotype of |
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tui |
T047
T028
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cui |
C0268342
C1538681
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