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piebaldism

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
Uniprot Description Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.
Mondo Term and Equivalent IDs
MONDO:0008244:  piebaldism
GARD:0004344: 
MESH:D016116: 
NCIT:C85009: 
Orphanet:2884: 
SCTID:6479008: 
UMLS:C0080024: