Disease-gene associations mined from literature

Human genes for hereditary elliptocytosis

Hereditary elliptocytosis [DOID:2373]

Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the sufferer's erythrocytes (i.e. red blood cells) are elliptical rather than the typical biconcave disc shape. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to haemolytic anaemia. In camelids, elliptocytosis is normal.

Synonyms:  hereditary elliptocytosis,  DOID:2373,  Congenital elliptocytosis (disorder),  ovalocytosis,  Congenital elliptocytosis disorder ...

Linkouts:  OMIM #1 #2 #3 #4