Piebaldism
Also known as partial albinism, piebald trait, PBT.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
partial albinism, piebald trait, PBT
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Related entities are derived from literature co-mention (studied together) — associative, not causal.