Disease Index

migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body

Genetic hyperaldosteronism

Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent

familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease

human disease

hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has material basis in mutation in the HADH gene on chromosome 4q25

human disease

human disease

hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has material basis in mutation in the SLC16A1 gene on chromosome 1p13.2

instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome

human disease

human disease

Familial non-immune hyperthyroidism. Resistance to thyroid stimulating hormone

Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions

Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)

hypobetalipoproteinemia that has material basis in mutation in the APOB gene on chromosome 2p24

hypobetalipoproteinemia that has material basis in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31

hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion

familial hypocalciuric hypercalcemia that has material basis in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21

familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13

familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the AP2S1 gene on chromosome 19q13

Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset

human disease

human disease

human disease