Term Name: | Revesz syndrome |
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Synonyms: | DKCA5, Dyskeratosis Congenita, Autosomal Dominant 5, exudative retinopathy with bone marrow failure |
Definition: | A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. |
Ontology: | Human Disease [DOID:0070026] ( DOID:0070026 ) |