- ubiquinone deficiency, see Primary coenzyme Q10 deficiency
- ubiquinone-cytochrome c oxidoreductase deficiency, see Mitochondrial complex III deficiency
- UC, see Ulcerative colitis
- UDA syndrome, see Muckle-Wells syndrome
- Udd distal myopathy, see Tibial muscular dystrophy
- Udd myopathy, see Tibial muscular dystrophy
- Udd-Markesbery muscular dystrophy, see Tibial muscular dystrophy
- UDP-galactose-4-epimerase deficiency disease, see Galactosemia
- UFS, see Ochoa syndrome
- UHS, see Uncombable hair syndrome
- Ulcerative colitis
- ULD, see Unverricht-Lundborg disease
- Ullrich-Feichtiger syndrome, see Fraser syndrome
- Ullrich-Noonan syndrome, see Noonan syndrome
- Ullrich-Turner syndrome, see Turner syndrome
- ultraviolet sensitive syndrome, see UV-sensitive syndrome
- UMAK, see Uromodulin-associated kidney disease
- UMOD-related kidney disease, see Uromodulin-associated kidney disease
- UNC80 deficiency
- Uncombable hair syndrome
- unconjugated benign bilirubinemia, see Gilbert syndrome
- unilateral defect of pectoralis major and syndactyly of the hand, see Poland syndrome
- unilateral intrauterine facial necrosis, see Craniofacial microsomia
- unilateral mandibulofacial dysostosis, see Craniofacial microsomia
- unipolar depression, see Depression
- unmanageable hair syndrome, see Uncombable hair syndrome
- Unverricht-Lundborg disease
- Unverricht-Lundborg syndrome, see Unverricht-Lundborg disease
- upper airway resistance sleep apnea syndrome, see Obstructive sleep apnea
- Urbach-Wiethe disease, see Lipoid proteinosis
- Urbach-Wiethe lipoid proteinosis, see Lipoid proteinosis
- Urbach-Wiethe syndrome, see Lipoid proteinosis
- Urinary bladder cancer, see Bladder cancer
- urinary stones, see Kidney stones
- urofacial Ochoa's syndrome, see Ochoa syndrome
- urofacial syndrome, see Ochoa syndrome
- urolithiasis, see Kidney stones
- Uromodulin storage disease, see Uromodulin-associated kidney disease
- Uromodulin-associated kidney disease
- urticaria-deafness-amyloidosis syndrome, see Muckle-Wells syndrome
- Usher syndrome
- Usher's syndrome, see Usher syndrome
- usual interstitial pneumonia, see Idiopathic pulmonary fibrosis
- UTP hexose-1-phosphate uridylyltransferase deficiency, see Galactosemia
- UV-sensitive syndrome
- uveoretinal coloboma, see Coloboma
- UVSS, see UV-sensitive syndrome
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