Disease Name Symbol Acronym
X Inactivation, Familial Skewed, 2 XNC002
X-Inactivation, Familial Skewed XNC003
X-Linked Adrenal Hypoplasia Congenita XLN010
X-Linked Charcot-Marie-Tooth Disease XLN110
X-Linked Charcot-Marie-Tooth Disease Type 5 XLN066
X-Linked Chondrodysplasia Punctata XLN161
X-Linked Complicated Spastic Paraplegia Type 1 XLN085
X-Linked Congenital Generalized Hypertrichosis XLN215
X-Linked Congenital Stationary Night Blindness XLN012
X-Linked Diffuse Leiomyomatosis-Alport Syndrome XLN198
X-Linked Disease XLN007
X-Linked Familial Exudative Vitreoretinopathy XLN033
X-Linked Hereditary Ataxia XLN191
X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius XLN034
X-Linked Hypophosphatemic Rickets XLN190
X-Linked Infantile Nystagmus XLN065
X-Linked Intellectual Disability with or Without Nystagmus XLN106
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome XLN217
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome XLN187
X-Linked Intellectual Disability, Golabi-Ito-Hall Type XLN156
X-Linked Intellectual Disability, Najm Type XLN162
X-Linked Intellectual Disability, Porteous Type XLN157
X-Linked Intellectual Disability, Siderius Type XLN134
X-Linked Juvenile Retinoschisis XLN014
X-Linked Leigh Syndrome XLN036
X-Linked Lissencephaly with Abnormal Genitalia XLN107
X-Linked Mental Retardation 21 XLN042
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome XLN186
X-Linked Non-Syndromic Sensorineural Deafness Type Dfn XLN174
X-Linked Nonsyndromic Deafness XLN004
X-Linked Opitz G/bbb Syndrome XLN015
X-Linked Protoporphyria XLN067
X-Linked Sideroblastic Anemia with Ataxia XLN003
Xanthinuria XNT004
Xanthinuria, Type I XNT010
Xanthinuria, Type Ii XNT011
Xanthogranulomatous Cholecystitis XNT002
Xanthogranulomatous Pyelonephritis XNT001
Xanthoma Disseminatum XNT009
Xanthomatosis XNT003
Xeroderma Pigmentosum-Cockayne Syndrome Complex XRD026
Xeroderma Pigmentosum, Group a XRD018
Xeroderma Pigmentosum, Group B XRD013
Xeroderma Pigmentosum, Group C XRD019
Xeroderma Pigmentosum, Group D XRD012
Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype XRD017
Xeroderma Pigmentosum, Group F XRD015
Xeroderma Pigmentosum, Group G XRD014
Xeroderma Pigmentosum, Variant Type XRD010
Xerophthalmia XRP001
Xfe Progeroid Syndrome XFP001
Xia-Gibbs Syndrome XGB001
Xp11.3 Deletion Syndrome XP1001
Xpa-Related Xeroderma Pigmentosum XPR002
Xpc-Related Xeroderma Pigmentosum XPC001
Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated XQ2002
Xylt1-Cdg XYL001