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dyskeratosis congenita, autosomal dominant 1

Disease Summary
Associated Targets (3)
Tchem

1

Tbio

1

Tdark

1


GARD Rare
Mondo Description A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.
Mondo Term and Equivalent IDs
MONDO:0007485:  dyskeratosis congenita, autosomal dominant 1
DOID:0070014: autosomal dominant dyskeratosis congenita 1
GARD:0006299: 
MESH:C565079: 
OMIM:127550: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
SCTID:707273001: