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

  • X chromosome, duplication Xq13 1 q21 1
  • X chromosome, monosomy Xp22 pter
  • X chromosome, monosomy Xq28
  • X chromosome, trisomy Xp3
  • X chromosome, trisomy Xpter Xq13
  • X chromosome, trisomy Xq
  • X chromosome, trisomy Xq25
  • X fragile site folic acid type
  • Xanthic urolithiasis
  • Xanthine oxydase deficiency
  • Xanthinuria
  • Xanthomatosis cerebrotendinous
  • Xanthophobia
  • Xenoglossophobia
  • Xenophobia
  • Xerocytosis, hereditary
  • Xeroderma pigmentosum, type 1
  • Xeroderma pigmentosum, type 2
  • Xeroderma pigmentosum, type 3
  • Xeroderma pigmentosum, type 5
  • Xeroderma pigmentosum, type 6
  • Xeroderma pigmentosum, type 7
  • Xeroderma pigmentosum, variant type
  • Xeroderma pigmentosum
  • Xeroderma talipes enamel defects
  • Xerophobia
  • Xerostomia
  • Xk aprosencephaly
  • X-linked alpha thalassemia mental retardation syndrome (ATR-X)
  • X-linked dominant
  • X-linked ichthyosis
  • X-linked juvenile retinoschisis
  • X-linked juvenile retinoschisis
  • X-linked lymphoproliferative syndrome
  • X-linked mental retardation and macro-orchidism
  • X-linked mental retardation associated with marXq2
  • X-linked mental retardation Brooks type
  • X-linked mental retardation craniofacial abnormal microcephaly club
  • X-linked mental retardation De silva type
  • X-linked mental retardation Hamel type
  • X-linked mental retardation type Gustavson
  • X-linked mental retardation type Martinez
  • X-linked mental retardation type Raynaud
  • X-linked mental retardation type Schutz
  • X-linked mental retardation type Snyder
  • X-linked mental retardation type Wittner
  • X-linked mental retardation-hypotonia
  • X-linked severe combined immunodeficiency
  • X-linked trait
  • XX male syndrome
  • XY Female
  • XY gonadal agenesis syndrome
  • Xylophobia