Term Name: | autosomal recessive dyskeratosis congenita 1 |
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Synonyms: | DKCB1 |
Definition: | A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. |
Ontology: | Human Disease [DOID:0070015] ( DOID:0070015 ) |