albinism
MONDO:0043209Mondo
Findings
No curated finding names albinism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.
Definition from the Mondo Disease Ontology (MONDO:0043209), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TPCN2HGNC:20820
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- Narrower terms (2)