Disease Index

rare X-linked genetic disorder

human disease

long term autoimmune disorder caused by a reaction to gluten

Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has material basis in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11

Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.

Central cloudy dystrophy of Francois is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision

Human disease

disease with impaired function of the posterior lobe of the pituitary gland, characterized by a complete or partial deficiency in the production of the hormone arginine-vasopressin (AVP) in the brain

human disease

human disease

Human disease

human disease