Disease Name Symbol Acronym
X Inactivation, Familial Skewed, 2 XNC002
X-Inactivation, Familial Skewed XNC003
X-Linked Adrenal Hypoplasia Congenita XLN010 AHC
X-Linked Amelogenesis Imperfecta Hypoplastic/hypomaturation 2 XLN218 AIH3
X-Linked Charcot-Marie-Tooth Disease XLN110 CMTX
X-Linked Chondrodysplasia Punctata XLN161
X-Linked Complicated Corpus Callosum Agenesis XLN220
X-Linked Complicated Spastic Paraplegia Type 1 XLN085 SPG1
X-Linked Congenital Generalized Hypertrichosis XLN215 CGH
X-Linked Congenital Stationary Night Blindness XLN012
X-Linked Diffuse Leiomyomatosis-Alport Syndrome XLN198
X-Linked Disease XLN007
X-Linked Dystonia-Parkinsonism/lubag XLN216 XDP
X-Linked Familial Exudative Vitreoretinopathy XLN033
X-Linked Hereditary Ataxia XLN191
X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness XLN075
X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius XLN034
X-Linked Infantile Nystagmus XLN065 NYS1
X-Linked Intellectual Disability with or Without Nystagmus XLN106 FGS4
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, Shashi Type XLN133
X-Linked Intellectual Disability, Siderius Type XLN134 MRXSSD
X-Linked Leigh Syndrome XLN036
X-Linked Lissencephaly with Abnormal Genitalia XLN107 XLAG
X-Linked Magnesium Deficiency with Epstein-Barr Virus Infection and Neoplasia XLN022 XMEN
X-Linked Mental Retardation 21 XLN042 MRX21
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 XLOS
X-Linked Protoporphyria XLN067 XLDPP
X-Linked Sideroblastic Anemia with Ataxia XLN003 ASAT
Xanthinuria XNT004
Xanthinuria, Type I XNT010 XAN1
Xanthinuria, Type Ii XNT011 XAN2
Xanthogranulomatous Cholecystitis XNT002 CX
Xanthogranulomatous Pyelonephritis XNT001
Xanthoma Disseminatum XNT009
Xanthomatosis XNT003
Xeroderma Pigmentosum Group E XRD027 XP5
Xeroderma Pigmentosum-Cockayne Syndrome Complex XRD026
Xeroderma Pigmentosum, Group a XRD018 XP-A
Xeroderma Pigmentosum, Group B XRD013 XP-B
Xeroderma Pigmentosum, Group C XRD019 XP-C
Xeroderma Pigmentosum, Group D XRD012 XP-D
Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype XRD017 XP-E
Xeroderma Pigmentosum, Group F XRD015 XP-F
Xeroderma Pigmentosum, Group G XRD014 XP-G
Xeroderma Pigmentosum, Variant Type XRD010 XPV
Xerophthalmia XRP001
Xfe Progeroid Syndrome XFP001 XFEPS
Xia-Gibbs Syndrome XGB001 MRD25
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