Rare Disease Index

(20p13) leading to deposition of prion protein amyloid

pediatrics cases

human disease

serine deficiency that has material basis in deficiency of phosphoserine aminotransferase and is characterized by low concentrations of serine and flycine in plasma and cerebrospinal fluid

Human disease

human disease

autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, severe developmental delay, simplified gyration and polymicrogyria

osteochondrodysplasia that has material basis in mutations in the COMP gene which results in short limb dwarfism

medical condition

human disease

Human disease

Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function

human disease

human disease

human disease

human disease

human disease

human disease

subtype of pseudohypoparathyroidism

human disease

human disease

human disease

appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis

medical condition

Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.

rare genetic disorder

Human disease

Human disease