loading...| 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 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/153454 |
|
| altLabel |
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 LH LYSYL HYDROXYLASE LYSINE HYDROXYLASE LLH LYSYL HYDROXYLASE 1 PLOD1 LH1 |
|
| cui |
C0268342 C1538681 |
|
| Gene Locus |
1p36.3-p36.2 |
|
| Gene Symbol |
PLOD1 LH1 LLH EDSKCL1 |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/153454.0005 http://purl.bioontology.org/ontology/OMIM/153454.0003 http://purl.bioontology.org/ontology/OMIM/153454.0002 http://purl.bioontology.org/ontology/OMIM/153454.0004 http://purl.bioontology.org/ontology/OMIM/153454.0009 http://purl.bioontology.org/ontology/OMIM/153454.0008 http://purl.bioontology.org/ontology/OMIM/153454.0007 http://purl.bioontology.org/ontology/OMIM/153454.0001 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| notation |
153454 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE |
|
| tui |
T047 T028 |