UV-Sensitive Syndrome 1

Preferred Label : UV-Sensitive Syndrome 1;

NCIt synonyms : UVSS1;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. It is characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors.;

Details

Origin ID

C173106;

UMLS CUI

C3551173;

Currated CISMeF NLP mapping
- Uv-sensitive syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Uv-sensitive syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- ERCC6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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