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UV-sensitive syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.
Uniprot Description An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors.
Mondo Term and Equivalent IDs
MONDO:0013829:  UV-sensitive syndrome 2
UMLS:C3553298: