Term Name: | autosomal dominant dyskeratosis congenita 2 |
---|---|
Synonyms: | DKCA2 |
Definition: | A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. |
Ontology: | Human Disease [DOID:0070016] ( DOID:0070016 ) |