A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. (Human Disease Ontology, DOID_2729)
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Genes
9 genes involed in the disease dyskeratosis congenita from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.