This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp .

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

  • UDP-galactose-4-epimerase deficiency
  • Uhl anomaly
  • Ulbright Hodes syndrome
  • Ulcerative colitis
  • Ulerythema ophryogenesis
  • Ulna and fibula absence with severe limb deficit
  • Ulna hypoplasia mental retardation
  • Ulna metaphyseal dysplasia syndrome
  • Ulnar hypoplasia lobster claw deformity of feet
  • Umbilical cord ulceration intestinal atresia
  • Uncombable hair syndrome
  • Uniparental disomy of 11
  • Uniparental disomy of 13
  • Uniparental disomy of 14
  • Uniparental disomy of 2
  • Uniparental disomy of 6
  • Uniparental disomy
  • Unna-Politzer nevus
  • Unna's seborrhoeic eczema
  • Upington disease
  • Upper limb defect eye and ear abnormalities
  • Upton Young syndrome
  • Urachal cancer
  • Urachal cyst
  • Urban Rogers Meyer syndrome
  • Urban Schosser Spohn syndrome
  • Urea cycle enzymopathies
  • Uremia
  • Urethral obstruction sequence
  • Uridine monophosphate synthetase deficiency
  • Urinary calculi
  • Urinary tract neoplasm
  • Urioste Martinez Frias syndrome
  • Urocanase deficiency
  • Urogenital adysplasia
  • Urophathy distal obstructive polydactyly
  • Urticaria pigmentosa
  • Urticaria
  • Urticaria-deafness-amyloidosis
  • Usher syndrome, type 1C
  • Usher syndrome, type 1D
  • Usher syndrome, type 1E
  • Usher syndrome, type 2A
  • Usher syndrome, type 2B
  • Usher syndrome, type 2C
  • Usher syndrome, type 3
  • Usher syndrome, type IA
  • Usher syndrome, type IB
  • Usher syndrome
  • Uveal diseases
  • Uveitis, anterior
  • Uveitis, posterior
  • Uveitis