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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 the TINF2 gene on chromosome 14q12. (DO)
Synonyms:exact_synonym: DKCA5;   Revesz Debuse syndrome;   dyskeratosis congenita, autosomal dominant 5;   exudative retinopathy with bone marrow failure
 broad_synonym: TINF2-RELATED CONDITION
 primary_id: MESH:C538371
 alt_id: MIM:268130
 xref: GARD:4695



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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:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Revesz syndrome | ClinVar Annotator: match by term: TINF2-related condition
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 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 19055
    syndrome 11179
      Revesz syndrome 2
Path 2
Term Annotations click to browse term
  disease 19055
    Pathological Conditions, Signs and Symptoms 13533
      Signs and Symptoms 11086
        Neurologic Manifestations 10337
          sensory system disease 7249
            skin disease 4187
              Skin Abnormalities 1313
                dyskeratosis congenita 329
                  Autosomal Dominant Dyskeratosis Congenita 158
                    Revesz syndrome 2
paths to the root