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Disease Ontology Browser
autosomal recessive dyskeratosis congenita 5 (DOID:0070022)
Alliance: disease page
Synonyms: DKCB5
Alt IDs: OMIM:615190
Definition: A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory