Rare Disease Intelligence

Isochromosome Y is a chromosomal anomaly involving an abnormal structure of the Y chromosome. As a condition defined by its structural difference rath...

Isolated adrenal insufficiency is a condition characterized by primary adrenocortical insufficiency that typically presents between the ages of two ye...

Isolated agammaglobulinemia is a primary immunodeficiency disorder marked by a significant deficiency of gamma globulins, which leads to a predisposit...

Isolated agenesis of the gallbladder is a congenital condition in which the gallbladder fails to develop as expected, affecting the biliary system. Al...

Isolated anhidrosis with normal sweat glands is a very rare condition in which individuals are unable to sweat despite having structurally normal swea...

Isolated aniridia is a congenital ocular malformation characterized by the partial or complete absence of the iris. The condition primarily affects th...

Isolated anophthalmia-microphthalmia syndrome is a condition affecting ocular development, where an eye is absent or significantly small. The conditio...

Isolated asymptomatic elevation of creatine phosphokinase is a condition identified by persistently elevated levels of the enzyme creatine kinase in t...