Rare Disease Index

X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities

X-linked recessive disease that has material basis in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems

Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella

medical condition

human disease

electrical impulse is delayed or blocked on the way to the atria, thus delaying the atrial bea

human disease

human disease

disease

rare autosomal recessively inherited lipid metabolic disorder

autosomal recessive form of ichthyosis apparent at birth

hypersensitivity reaction type II disease affecting the exocrine glands

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering

human disease

dermatologic disorder attendant upon non-dermatologic disease or injury

human disease

Other congenital malformations

human disease

disease of mental health that involves disruption of sleep patterns

human disease

human disease

human disease

human disease

human disease

rare disease

mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans

Human disease