Term Name: | autosomal dominant dyskeratosis congenita 1 |
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Synonyms: | DKCA1, Dyskeratosis Congenita, Scoggins Type |
Definition: | A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. |
Ontology: | Human Disease [DOID:0070014] ( DOID:0070014 ) |