Disease Index

human disease

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

Genetic disorder

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

novel genetic disorder in which the q21.13 region of chromosome 9 is deleted, this deletion causes a variety of symptoms, including intellectual disability, developmental and speech delay, epilepsy, low muscle tone and moderate facial dysmorphy

rare human genetic disorder

human disease

protein deposition disease

syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts

human disease

human disease

monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face

human disease

Autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)

medical condition

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage

human disease

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline

rare genetic disease involving failure of synthesis or assembly of plasma lipoproteins that contain apo-protein B (chylomicrons, VLDL, and LDL); characterized by severe vitamin E deficiency, leading to serious neurological damage

Human disease

human disease

human disease

human disease

human disease