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dyskeratosis congenita

Disease Summary
Associated Targets (15)
Tbio

13

Tchem

1

Tdark

1


Explore Associated Targets
Mondo Description Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0015780:  dyskeratosis congenita
GARD:0010905: 
MESH:D019871: 
NCIT:C111802: 
OMIMPS:127550: 
Orphanet:1775: 
SCTID:74911008: 
UMLS:C0265965: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)