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dyskeratosis congenita, X-linked

Disease Summary
Associated Targets (7)
Tbio

6

Tchem

1


GARD Rare
Mondo Description X-linked form of dyskeratosis congenita.
Uniprot Description A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
Mondo Term and Equivalent IDs
MONDO:0010584:  dyskeratosis congenita, X-linked
GARD:0002007: 
NCIT:C126352: 
SCTID:708536001: