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dyschromatosis universalis hereditaria 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.
Uniprot Description An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications.
Mondo Term and Equivalent IDs
MONDO:0014169:  dyschromatosis universalis hereditaria 3
UMLS:C3809394: