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.
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; IPO8-RELATED CONDITION; VASCULAR ANEURYSM, IMMUNE DYSREGULATION, SKELETAL ANOMALIES, AND SKIN AND JOINT LAXITY; VISS
ClinVar Annotator: match by term: IPO8-related aortopathy | ClinVar Annotator: match by term: IPO8-related condition | ClinVar Annotator: match by term: VISS syndrome