is a rare disorder causing the body to respond poorly to cortisol.

is a movement disorder causing involuntary muscle contractions and abnormal postures.

is an inherited disorder causing numerous gastrointestinal polyps and increased cancer risk.

is a rare disorder causing abnormal lymph vessels in multiple body areas.

is a rare inherited skin condition causing widespread painless skin peeling.

is a rare genetic disorder causing lifelong salt wasting and high potassium.

is a rare, severe psoriasis causing widespread sterile pustules and systemic illness.

is a genetic sex development difference affecting chromosomes, hormones, or reproductive anatomy.

is a genetic condition affecting sex development in people with XY chromosomes.

is an endocrine-related difference in sex development affecting people with 46,XY chromosomes.

is a rare inherited skin condition causing temporary wrinkling and thickening.

is inherited hair loss caused by gene changes affecting hair growth.

is a rare inherited disorder causing recurrent inflammation and skin symptoms.

is an inherited condition affecting the bile ducts and liver.

is an inherited condition causing multiple bone growths that may affect movement.

is a rare genetic disorder affecting facial, mouth, and limb development.

is an inherited heart defect that can affect structure, rhythm, or function.

is a genetic heart defect present from birth that affects structure.

is an inherited heart rhythm disorder that can cause dangerous abnormal heartbeats.

is a rare inherited condition linked to tumors in the heart.

is an inherited disorder affecting blood vessels in the brain and retina.

is a group of inherited brain and spinal cord developmental abnormalities.

is an inherited condition causing puberty to start unusually early.

is a genetic condition causing unusually early puberty in girls.