Disease Index

Hepatocellular adenoma (HA) is a rare benign tumor of the liver

liver carcinoma that has material basis in undifferentiated hepatocytes

Human disease

Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding

medical condition

neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements

human disease

Hereditary angioedema is an autosomal dominant disorder caused by deficiency or dysfunction of C1 esterase inhibitor, leading to recurrent episodes of severe swelling affecting the skin, gastrointestinal tract, and upper airways. Three types are recognized: Type I (85% of cases) with low C1-INH levels, Type II with dysfunctional C1-INH, and Type III with normal C1-INH. The estimated prevalence is 1 in 50,000 individuals worldwide.

Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway

Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway

form of hereditary angioedema that occurs in women and is precipitated or worsened by high estrogen levels

human disease

autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families

subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a genetically inherited decrease in vasopressin (AVP) production

human disease

Human disease

Human disease

human disease

human disease

a cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of CST3 on chromosome 20p11.21.

The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions

medical condition

medical condition

hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present

human disease

human disease

medical condition

inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B