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Disease Ontology Browser
Revesz syndrome (DOID:0070026)
Alliance: disease page
Synonyms: DKCA5; Dyskeratosis Congenita, Autosomal Dominant 5; exudative retinopathy with bone marrow failure
Alt IDs: OMIM:268130
Definition: A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12.

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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory