Revesz syndrome

Term ID

DOID:0070026

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. https://www.ncbi.nlm.nih.gov/pubmed/18252230

References

• GARD:4695
• MIM:268130

Ontology

Human Disease   ( DOID:0070026 )