Revesz syndrome

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Summary

Literature (0)

DOID:0070026 - Revesz syndrome

Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12.

Synonyms: DKCA5, Dyskeratosis Congenita, Autosomal Dominant 5, exudative retinopathy with bone marrow failure

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tinf2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009990 - Revesz syndrome

MONDO:0009990 - Revesz syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), dyskeratosis congenita (is_a)