UV-Sensitive Syndrome 2

Preferred Label : UV-Sensitive Syndrome 2;

NCIt synonyms : UVSS2;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8. It is characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors.;

Details

Origin ID

C173110;

UMLS CUI

C3553298;

Currated CISMeF NLP mapping
- Uv-sensitive syndrome 2 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Uv-sensitive syndrome 2 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- ERCC8 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients