is an inflammatory skin condition causing itchy rash and fluid-filled blisters.

is a chronic autoimmune skin disease causing tense blisters and itching.

is a rare immune skin disorder causing painful blisters and ulcers.

is retinal layer splitting causing dome-like elevations and peripheral vision loss.

is a group of autoimmune or inherited disorders causing blistering skin.

is enlargement of the eye in infants from high eye pressure (glaucoma).

is a fast-growing lymphatic cancer (non-Hodgkin lymphoma) needing urgent treatment.

is a rare inherited condition with facial differences and choanal atresia.

is chronic mouth burning with normal exam, often nerve-related (neuropathic) pain.

is inflammation of a bursa, causing pain, swelling, and stiffness.

is a bacterial infection causing painless skin ulcers; treatable with antibiotics.

is a rare genetic disorder causing harmless skin bumps and spotty bones.

is an inherited retinal disorder affecting the macula and central vision.

is an inherited enzyme shortage causing prolonged effects of specific anesthesia medicines.

is a rare genetic muscle disorder with hip-shoulder weakness, sometimes arrhythmias.

is an occupational lung disease from cotton dust causing asthma-like symptoms.

is a rare genetic condition with trigonocephaly, developmental delays, and multiple anomalies.

is a benign vestibular nerve tumor causing hearing loss, tinnitus, imbalance.

Rare immune disorder causing recurrent swelling, with painful abdominal and airway attacks.

is a rare autosomal recessive brain disorder with inadequate myelin formation.

is a mitochondrial disorder causing low energy production, affecting nerves and muscles.

is a rare kidney disease where complement overactivation inflames filters (glomeruli).

is a rare kidney disease from complement dysregulation causing kidney damage.

is a genetic white matter disease (leukodystrophy) causing progressive movement problems.