Term Name: dyskeratosis congenita
Synonyms: DKCD
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.
Ontology: Human Disease [DOID:2729]   ( DOID:2729 )

Relationships
is a type of: digenic disease skin disease
has subtype: autosomal dominant dyskeratosis congenita 1 autosomal dominant dyskeratosis congenita 2 autosomal dominant dyskeratosis congenita 3 autosomal dominant dyskeratosis congenita 4 autosomal dominant dyskeratosis congenita 6 autosomal recessive dyskeratosis congenita 1 autosomal recessive dyskeratosis congenita 2 autosomal recessive dyskeratosis congenita 3 autosomal recessive dyskeratosis congenita 4 autosomal recessive dyskeratosis congenita 5 autosomal recessive dyskeratosis congenita 6 digenic dyskeratosis congenita Revesz syndrome X-linked dyskeratosis congenita