Terminology Service for NFDI4Health
Piebaldism
Go to external page
http://purl.obolibrary.org/obo/NCIT_C85009
A rare, autosomal dominant disorder caused usually by mutations in the KIT gene. It is characterized by abnormalities in the development of melanocytes. It presents with multiple symmetrical hypopigmented or depigmented patches of skin and a midline patch of white hair. [ ]
Term info
Label
Piebaldism
Synonyms
- Piebaldism
Preferred Name
Piebaldism
Semantic Type
Disease or Syndrome
UMLS CUI
C0080024
code
C85009