The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Feeding difficulties in infancy||50%|
|Telangiectasia of the skin||50%|
|Congestive heart failure||7.5%|
|Nausea and vomiting||7.5%|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Strategic Planning for Pulmonary Vascular Disease Research Monday, March 8, 2010 -
Tuesday, March 9, 2010
Location: Bethesda, Maryland
Description: Formulation of strategy for advancing clinical research in pulmonary arterial hypertension (PAH) was a high priority of this conference. Plans are to make participants' recommendations available via publication in a peer-reviewed journal. Initiatives on future research were considered.
Contact: Timothy M. Moore, M.D., Ph.D., Tim.Moore@nih.govTim.Moore@nih.gov
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research