OBO ID: DOID:2729
Term Name: dyskeratosis congenita Search Ontology:
Synonyms:
Definition: 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. (2)
References:
Ontology: Human Disease   (DOID:2729)
OTHER dyskeratosis congenita PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (5)