Disease Name Symbol Acronym
X Inactivation, Familial Skewed, 1 XNC004 SXI1
X Inactivation, Familial Skewed, 2 XNC002 SXI2
X Small Rings XSM001
Xanthinuria XNT004
Xanthinuria, Type I XNT010 XAN1
Xanthinuria, Type Ii XNT011 XAN2
Xanthogranulomatous Cholecystitis XNT002 CX
Xanthogranulomatous Pyelonephritis XNT001
Xanthogranulomatous Sialadenitis XNT007
Xanthoma Disseminatum XNT009
Xanthomatosis XNT003
Xeroderma of Eyelid XRD002
Xeroderma Pigmentosum Group E XRD027 XP5
Xeroderma Pigmentosum, Autosomal Dominant, Mild XRD028
Xeroderma Pigmentosum, Complementation Group a XRD029 XP-A
Xeroderma Pigmentosum, Complementation Group B XRD032 XP-B
Xeroderma Pigmentosum, Complementation Group C XRD030 XP-C
Xeroderma Pigmentosum, Complementation Group D XRD022 XP-D
Xeroderma Pigmentosum, Complementation Group E XRD021 XP-E
Xeroderma Pigmentosum, Complementation Group F XRD031 XP-F
Xeroderma Pigmentosum, Complementation Group G XRD023 XP-G
Xeroderma Pigmentosum, Type 2 XRD005
Xeroderma Pigmentosum, Type 9 XRD009 XP1
Xeroderma Pigmentosum, Variant Type XRD010 XPV
Xeroderma Talipes Enamel Defects XRD011
Xerophthalmia XRP001
Xfe Progeroid Syndrome XFP001 XFEPS
Xh Antigen XHN001
Xia-Gibbs Syndrome XGB001 MRD25
Xk Aprosencephaly XKP001
X-Linked Acrogigantism Due to a Point Mutation XLN202
X-Linked B Cell Surface Antigen, Mouse, Homolog-Like 1 XLN225 XLRL
X-Linked Charcot-Marie-Tooth Disease XLN110 CMTX
X-Linked Chondrodysplasia Punctata 1 XLN227 CDPX1
X-Linked Chondrodysplasia Punctata 2 XLN229 CDPX2
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 Dominant Intellectual Disability-Epilepsy Syndrome XLN214
X-Linked Dystonia-Parkinsonism/lubag XLN216 XDP
X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome XLN226
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability XLN223
X-Linked Hereditary Ataxia XLN191
X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness XLN075
X-Linked Infantile Nystagmus XLN065 NYS1
X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis XLN149
X-Linked Intellectual Disability - Short Stature - Obesity XLN122
X-Linked Intellectual Disability with or Without Nystagmus XLN106 FGS4
X-Linked Intellectual Disability, Abidi Type XLN128
X-Linked Intellectual Disability, Cilliers Type XLN112
X-Linked Intellectual Disability, Golabi-Ito-Hall Type XLN156
X-Linked Intellectual Disability, Najm Type XLN162
X-Linked Intellectual Disability, Pai Type XLN145
X-Linked Intellectual Disability, Porteous Type XLN157
X-Linked Intellectual Disability, Schimke Type XLN132
X-Linked Intellectual Disability, Seemanova Type XLN144
X-Linked Intellectual Disability, Shashi Type XLN133
X-Linked Intellectual Disability, Siderius Type XLN134 MRXSSD
X-Linked Intellectual Disability, Stevenson Type XLN142
X-Linked Intellectual Disability, Stoll Type XLN147
X-Linked Intellectual Disability, Turner Type XLN179
X-Linked Intellectual Disability, Van Esch Type XLN113
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome XLN210
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome XLN212
X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome XLN207
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome XLN204
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome XLN211
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome XLN187
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome XLN206
X-Linked Intellectual Disability-Plagiocephaly Syndrome XLN197
X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome XLN221
X-Linked Lissencephaly with Abnormal Genitalia XLN107 XLAG
X-Linked Magnesium Deficiency with Epstein-Barr Virus Infection and Neoplasia XLN022 XMEN
X-Linked Mendelian Susceptibility to Mycobacterial Diseases XLN170
X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club XLN023
X-Linked Neurodegenerative Syndrome, Bertini Type XLN092
X-Linked Neurodegenerative Syndrome, Hamel Type XLN091
X-Linked Non-Specific Intellectual Disability XLN224
X-Linked Nonsyndromic Deafness XLN004
X-Linked Non-Syndromic Sensorineural Deafness Type Dfn XLN174
X-Linked Opitz G/bbb Syndrome XLN015 XLOS
X-Linked Protoporphyria XLN067
X-Linked Recessive Disease XLN228
X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome XLN213
Xp11.22 Deletion XP1003
Xp22.13p22.2 Duplication Syndrome XP2002 DUP
Xp22.3 Microdeletion Syndrome XP2001 DEL
Xq12-Q13.3 Duplication Syndrome XQ1001 DUP
Xq25 Duplication Syndrome XQ2003
Xq25 Microduplication Syndrome XQ2004
Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated XQ2002
Xylosidase Deficiency XYL002
Xylt1-Cdg XYL001
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