Term Name: Revesz syndrome
Synonyms: DKCA5, Dyskeratosis Congenita, Autosomal Dominant 5, exudative retinopathy with bone marrow failure
Definition: A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12.
Ontology: Human Disease [DOID:0070026]   ( DOID:0070026 )

Relationships
is a type of: autosomal dominant disease dyskeratosis congenita