is a rare genetic disorder of glycosylation and pyrimidine synthesis, potentially treatable.

is an inherited small-vessel brain disease causing strokes, migraines, dementia.

is an inherited small-vessel brain disease causing strokes, migraines, and cognitive decline.

is a rare genetic condition causing developmental delays and neurological symptoms.

is a rare condition that affects health and daily functioning.

is a self-limited infant disorder causing painful bone swelling and fever.

is a group of birth defects affecting kidneys and urinary tract.

is a group of birth defects affecting kidneys and urinary tract.

is an abnormal link between heel and navicular bones causing painful stiffness.

is a painful tendon disorder where calcium deposits form, usually shoulder.

is a rare, benign hand or foot tumor of childhood.

is abnormal calcium buildup in skin and soft tissues, sometimes painful.

is a rare, life-threatening disorder causing painful skin ulcers from vessel calcification.

is a rare, serious skin disease causing painful ulcers from vessel calcification.

is a disorder affecting calcium balance, impacting bones, muscles, nerves.

is the most common kidney stone formed from calcium and oxalate.

is a genetic muscle disorder causing progressive hip and shoulder weakness.

is an inherited muscle disorder causing progressive hip and shoulder weakness.

is a rare genetic disorder causing fragile bones, fractures, and skull lesions.

is a rare genetic condition affecting facial features and limb development.

is a rare inherited bone disorder with bowed limbs and short stature.

is a rare genetic disorder affecting skeletal development and sex characteristics.

is a rare genetic spectrum causing bowed limbs and serious breathing problems.

is a congenital hand difference with bent and unusually short fingers.