Disease Index

Human disease

tumor that arises from the ependyma, a tissue of the central nervous system

human disease

fold on upper eye lid

human disease

human disease

human disease

a rare neurocutaneous syndrome

human disease

Human disease

chronic subepidermal blistering disease associated with autoimmunity to type VII collagen

inherited disease affecting the skin and other organs

Human disease

disorder resulting from mutations in the genes encoding keratin 5 or keratin 14

human disease

Human disease

Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters

human disease

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation

autosomal recessive disease characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has material basis in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24

Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia

rare and severe form of ichthyosis

human neurological disease causing seizures

human disease

human disease

complex of signs and symptoms that define a unique epileptic condition

human disease