2.1. Clinical example - Sickle Cell disease
A disease with a clear risk profile is Sickle Cell Disease, which is inherited with defined genetic defect of then HBB gene. The blood cells (erythrocytes) of affected individuals under certain circumstances (e.g. anoxia) change shape which leads to changes blood flow and oxygen carrying capacity, which can affect multiple organs. A blood smear is shown here showing sickled erythrocytes
2.1.1. HPO subsets
See download page for HPO subset of Erythrocyte morphology (Mapping files for download), a way of making it easier to locate and browse areas of interest in the mapping.
2.2. Clinical example - Polycystic kidney
Note - unilateral polycystic kidney disease is not inherited or associated with cysts in the liver and other conditions.
Bilateral renal cysts is associated with other conditions and genetic defects (ADPKD, 765330003 |Autosomal dominant polycystic kidney disease (disorder)|)
See download page for HPO subset of kidney morphology (Mapping files for download).