Disease Index

cerebral degeneration characterized by dysfunction of the white matter of the brain

This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter

human disease

human disease

genetic human disorder

human disease

human disease

human disease

human disease

Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly

medical condition

condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation

type of dementia

human disease

human disease

human disease

rare neoformation of the cerebellum due to a mutation in the PTEN-Gen

autosomal dominant disease characterized by increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata

Human disease

rare cutaneous variant of lichen planus which affects hair follicles

chronic disease of skin, tongue or oral mucosa

Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid (see these terms)

Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus (see this term) characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body

chronic inflammatory process affecting the skin