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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/126340
http://purl.bioontology.org/ontology/OMIM/126340
|
|---|---|
| Preferred Name | ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT |
| Synonyms |
EM9
DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
CEREBROOCULOFACIOSKELETAL SYNDROME 2
XPD
EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2
XPD GENE
ERCC2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EM9
DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
CEREBROOCULOFACIOSKELETAL SYNDROME 2
XPD
EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2
XPD GENE
ERCC2
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|
|---|---|
| prefLabel |
ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT
|
| Gene Symbol |
EM9
ERCC2
XPD
TTD1
COFS2
|
| notation |
126340
|
| Has allelic variant |
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|
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
19q13.2-q13.3
|
| Phenotype of |
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|
| tui |
T047
T028
|
| cui |
C1853102
C1333356
C0268138
C1866504
|
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