C176921Level 11
Dyskeratosis Congenita, Autosomal Dominant 1
**Semantic type:** Disease or Syndrome
**Definition:** Dyskeratosis congenita caused by autosomal dominant mutation(s) in the TERC gene, encoding telomerase RNA component.
**Synonyms:** - DKCA1 - Dyskeratosis Congenita, Scoggins Type
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