FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Revesz syndrome ID (Ontology) DOID:0070026 (Human Disease)
Definition A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12.
Also Known As "DKCA5" ; "Dyskeratosis Congenita, Autosomal Dominant 5" ; "exudative retinopathy with bone marrow failure"
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DO.org
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
digenic disease                 |
 |__dyskeratosis congenita______|
skin disease                    |
 |__dyskeratosis congenita______|
                                Revesz syndrome
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Is a autosomal dominant disease
dyskeratosis congenita
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Synonyms
  • "DKCA5" EXACT OMO:0003012
    "Dyskeratosis Congenita, Autosomal Dominant 5" EXACT
    "exudative retinopathy with bone marrow failure" EXACT
Secondary IDs
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GARD:4695
MIM:268130