FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive dyskeratosis congenita 5 ID (Ontology) DOID:0070022 (Human Disease)
Definition A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33.
Also Known As "DKCB5"
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DO.org
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 Genes
 autosomal recessive dyskeratosis congenita 5       1
 for disease ribbon | autosomal recessive dyskeratosis congenita 5       1
 model of | autosomal recessive dyskeratosis congenita 5       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
digenic disease                  |
 |__dyskeratosis congenita_______|
skin disease                     |
 |__dyskeratosis congenita_______|
                                 autosomal recessive dyskeratosis congenita 5  1 rec.
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Is a autosomal recessive disease
dyskeratosis congenita
Part of
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Synonyms
  • "DKCB5" EXACT OMO:0003012
Secondary IDs
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MIM:615190