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loading...| Preferred Name |
Trichothiodystrophy 1, Photosensitive |
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| Synonyms |
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| 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://purl.obolibrary.org/obo/NCIT_C156433 |
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| code |
C156433 |
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| 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. |
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| in_subset | ||
| label |
Trichothiodystrophy 1, Photosensitive |
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| Preferred_Name |
Trichothiodystrophy 1, Photosensitive |
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| prefixIRI |
NCIT:C156433 |
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| prefLabel |
Trichothiodystrophy 1, Photosensitive |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1866504 |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0011125 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0011125 | MONDO | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156433 | NCIT | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/601675 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0011125 | DOVES | LOOM |