is a rare genetic condition affecting development, facial features, heart, lungs, bones.

is a rare inherited disorder causing developmental delays, vision loss, and neutropenia.

is a genetic small-vessel disorder causing brain bleeds, strokes, and migraines.

is a genetic disorder affecting brain small vessels, causing bleeding strokes.

is a hereditary small-vessel brain disease causing recurrent ischemic strokes.

is a genetic small-vessel disorder causing brain white matter disease and strokes.

is a life-threatening overdose causing severe gastrointestinal, blood, and organ injury.

is an autoimmune hemolytic anemia triggered by cold temperatures.

is a rare inherited disorder of autonomic nerves causing cold-triggered sweating.

is a rare genetic disorder with cold-triggered sweating and muscle stiffness.

is a rare inherited condition causing cold-triggered sweating and body regulation problems.

is a rare genetic disorder causing excessive sweating during cold exposure.

is a rare genetic condition causing cold-induced sweating and recurrent hyperthermia.

is a rare genetic disorder causing fragile bones and early skull fusion.

is inflammation of the colon causing diarrhea, abdominal pain, and bleeding.

affects connective tissues throughout the body, impacting skin, joints, and organs.

is a rare kidney disease causing protein in urine, swelling, hypertension.

is a genetic muscle disorder causing weakness, joint stiffness, and breathing problems.

is a genetic kidney disease causing blood in urine (hematuria) and damage.

is a microscopic colitis causing chronic, watery, non-bloody diarrhea.

is a rare, aggressive renal cell carcinoma (kidney cancer) of collecting ducts.

is a benign thyroid nodule that may cause neck lump or pressure.

is a rare pancreatic cancer subtype producing mucin, often from pancreatic cysts.

is a birth defect with missing eye tissue and vision problems.