OBO ID: DOID:0070026
Term Name: Revesz syndrome Search Ontology:
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
is a type of:
OTHER Revesz syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TINF2 Revesz syndrome 268130
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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