dyskeratosis congenita OMIM:PS127550 NCI:C111802 DOID:2729 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. ORDO:1775 Xref MGI. OMIM mapping by NeuroDevNet. [LS]. SNOMEDCT_US_2020_03_01:74911008 MESH:D019871 disease_ontology UMLS_CUI:C0265965 GARD:10905 skin disease