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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Revesz syndrome
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Accession:DOID:0070026 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in a mutation of TINF2 on chromosome 14q12. (DO)
Synonyms:exact_synonym: DKCA5;   Revesz Debuse syndrome;   dyskeratosis congenita, autosomal dominant 5;   exudative retinopathy with bone marrow failure
 primary_id: MESH:C538371
 alt_id: OMIM:268130
 xref: GARD:4695
For additional species annotation, visit the Alliance of Genome Resources.


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Revesz syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Revesz syndrome ClinVar PMID:18669893 PMID:21199492 PMID:22211879 PMID:28492532 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by OMIM:268130
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Revesz syndrome
OMIM
ClinVar
CTD
PMID:18252230 PMID:18669893 PMID:18979121 PMID:19090550 PMID:20979174 More... NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Revesz syndrome 2
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                Autosomal Dominant Dyskeratosis Congenita 9
                  Revesz syndrome 2
paths to the root