Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0070026 )
Relationships
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Other Pages
Genes Involved
Zebrafish Models