Disease Vault
Clinical & Medical Disease Vault
Explore thousands of diseases with authoritative clinical information from WHO, CDC, NIH, and international medical guidelines. Every condition features an interactive journey from diagnosis to treatment.
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Genetic disorders
Genetics
Alcaptonuria
A genetic disorder causing homogentisic acid buildup, resulting in dark urine when exposed to air, blue-black connective tissue pigmentation (ochronosis), and early severe arthritis.
Genetics
E75.242
Niemann-Pick Disease Type C
A fatal genetic disorder where the body cannot properly process cholesterol, causing it to build up toxically in the brain and liver, leading to severe, progressive brain damage and loss of motor skills.