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Echinobase
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,

Echinobase Genes :


OMIM:
MIM:268130 - revesz syndrome

Other Model Organisms: AGR, 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)