Disease Index

Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum

bacterial infection

human disease

Human disease

multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good

extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver

human disease

human disease

epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet

Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails

medical condition

Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body

human disease

condition in which a patient is aware but cannot move or communicate verbally due to complete paralysis of nearly all voluntary muscles in the body except for vertical eye movements and blinking

restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils

Human disease

Human disease

Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR1 gene on chromosome 9q22

Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR2 gene on chromosome 3p24

neurological disorder

human disease

condition involving delayed repolarization of the heart during the heartbeat cycle

medical condition

human disease

human disease