UV-Sensitive Syndrome 3

Preferred Label : UV-Sensitive Syndrome 3;

NCIt synonyms : UVSS3;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the UVSSA gene, encoding UV-stimulated scaffold protein A. it is characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors.;

Détails

Origin ID

C173107;

UMLS CUI

C3553328;

Automatic exact mappings (from CISMeF team)
- Uv-sensitive syndrome 3 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Uv-sensitive syndrome 3 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_gene
- UVSSA Gene [NCIt concept]

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