/dyskeratosis congenita, autosomal dominant 6

dyskeratosis congenita, autosomal dominant 6

Rare Disease

MONDO:0014690

Also Known As

DKCA6dyskeratosis congenita, autosomal dominant 6dyskeratosis congenita, autosomal dominant type 6autosomal dominant dyskeratosis congenita 6dyskeratosis congenita, autosomal recessive 7

Definition

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.

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Associated Genes

ACD ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:616553 ↗

GARD

GARD:16136 ↗

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