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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | Trichothiodystrophy 1, Photosensitive | |
| Synonyms |
Trichothiodystrophy 1, Photosensitive |
|
| Definitions |
An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC2 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPD. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156433 |
|
| code |
C156433
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus
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|
| DEFINITION |
An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC2 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPD.
|
|
| FULL_SYN |
Trichothiodystrophy 1, Photosensitive
|
|
| label |
Trichothiodystrophy 1, Photosensitive
|
|
| Preferred_Name |
Trichothiodystrophy 1, Photosensitive
|
|
| prefixIRI |
Thesaurus:C156433
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|
| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C1866504
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|
| subClassOf |
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