Disease Name Symbol Acronym
X Inactivation, Familial Skewed, 1 XNC004
X Inactivation, Familial Skewed, 2 XNC002
X-Linked Charcot-Marie-Tooth Disease XLN110
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 External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome XLN226
X-Linked Hereditary Ataxia XLN191
X-Linked Infantile Nystagmus XLN065
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, Porteous Type XLN157
X-Linked Intellectual Disability, Shashi Type XLN133
X-Linked Intellectual Disability, Siderius Type XLN134
X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome XLN221
X-Linked Lissencephaly with Abnormal Genitalia XLN107
X-Linked Non-Specific Intellectual Disability XLN224
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 Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome XLN213
Xanthinuria XNT004
Xanthinuria, Type I XNT010
Xanthinuria, Type Ii XNT011
Xanthogranulomatous Cholecystitis XNT002
Xanthogranulomatous Pyelonephritis XNT001
Xanthoma Disseminatum XNT009
Xanthomatosis XNT003
Xeroderma Pigmentosum Group E XRD027
Xeroderma Pigmentosum, Complementation Group a XRD029
Xeroderma Pigmentosum, Complementation Group B XRD032
Xeroderma Pigmentosum, Complementation Group C XRD030
Xeroderma Pigmentosum, Complementation Group D XRD022
Xeroderma Pigmentosum, Complementation Group E XRD021
Xeroderma Pigmentosum, Complementation Group F XRD031
Xeroderma Pigmentosum, Complementation Group G XRD023
Xeroderma Pigmentosum, Variant Type XRD010
Xerophthalmia XRP001
Xfe Progeroid Syndrome XFP001
Xia-Gibbs Syndrome XGB001
Xp11.22 Deletion XP1003
Xq25 Duplication Syndrome XQ2003
Xylt1-Cdg XYL001
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