Term Name: | autosomal dominant dyskeratosis congenita 4 |
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Synonyms: | DKCA4 |
Definition: | A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. |
Ontology: | Human Disease [DOID:0070020] ( DOID:0070020 ) |