dyskeratosis congenita

Term ID

DOID:2729

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. (2)

References

GARD:10905
MESH:D019871
MIM:PS127550
NCI:C111802
ORDO:1775
SNOMEDCT_US_2023_03_01:74911008
UMLS_CUI:C0265965

Ontology

Human Disease ( DOID:2729 )

Relationships

is a type of: digenic disease skin disease

digenic disease skin disease Show first 5 Terms
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 ... Show All 14 Terms

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 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models