Term Name: | autosomal recessive dyskeratosis congenita 5 |
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Synonyms: | DKCB5 |
Definition: | A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. |
Ontology: | Human Disease [DOID:0070022] ( DOID:0070022 ) |