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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C156433
http://purl.obolibrary.org/obo/NCIT_C156433
|
|---|---|
| Preferred Name | 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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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
Trichothiodystrophy 1, Photosensitive
|
| prefLabel |
Trichothiodystrophy 1, Photosensitive
|
| in_subset | |
| Preferred_Name |
Trichothiodystrophy 1, Photosensitive
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| UMLS_CUI |
C1866504
|
| prefixIRI |
NCIT:C156433
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| Contributing_Source |
Cellosaurus
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| subClassOf | |
| code |
C156433
|
| type | |
| Semantic_Type |
Disease or Syndrome
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