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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:VISS syndrome
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Accession:DOID:9004471 term browser browse the term
Definition:This disease is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay.
Synonyms:exact_synonym: IPO8-RELATED AORTOPATHY;   VASCULAR ANEURYSM, IMMUNE DYSREGULATION, SKELETAL ANOMALIES, AND SKIN AND JOINT LAXITY;   VISS
 primary_id: OMIM:619472
For additional species annotation, visit the Alliance of Genome Resources.



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VISS syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ipo8 importin 8 ISO ClinVar Annotator: match by term: VISS SYNDROME OMIM
ClinVar
PMID:25741868 PMID:33875846 PMID:34010604 PMID:34010605 NCBI chr 4:181,729,216...181,793,673
Ensembl chr 4:181,729,220...181,793,161
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      VISS syndrome 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          VISS syndrome 1
paths to the root