Disease Name Symbol Acronym
X Inactivation, Familial Skewed, 1 XNC004 SXI1
X Inactivation, Familial Skewed, 2 XNC002 SXI2
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, Complementation Group a XRD029 XPA
Xeroderma Pigmentosum, Complementation Group B XRD032 XPB
Xeroderma Pigmentosum, Complementation Group C XRD030 XPC
Xeroderma Pigmentosum, Complementation Group D XRD022 XPD
Xeroderma Pigmentosum, Complementation Group E XRD021 XP-E
Xeroderma Pigmentosum, Complementation Group F XRD031 XPF
Xeroderma Pigmentosum, Complementation Group G XRD023 XPG
Xeroderma Pigmentosum, Variant Type XRD010 XPV
Xeroderma Pigmentosum-Cockayne Syndrome Complex XRD026
Xerophthalmia XRP001
Xfe Progeroid Syndrome XFP001 XFEPS
Xia-Gibbs Syndrome XGB001 MRD25
X-Linked Alport Syndrome XLN231
X-Linked Alport Syndrome-Diffuse Leiomyomatosis XLN232
X-Linked Cerebellar Ataxia XLN076
X-Linked Charcot-Marie-Tooth Disease XLN110 CMTX
X-Linked Chondrodysplasia Punctata 1 XLN227 CDPX1
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 Distal Hereditary Motor Neuropathy XLN239
X-Linked Ehlers-Danlos Syndrome XLN086
X-Linked Emery-Dreifuss Muscular Dystrophy XLN241
X-Linked Hereditary Ataxia XLN191
X-Linked Infantile Nystagmus XLN065 NYS1
X-Linked Intellectual Disability with Marfanoid Habitus XLN235
X-Linked Intellectual Disability, Golabi-Ito-Hall Type XLN156
X-Linked Intellectual Disability, Porteous Type XLN157
X-Linked Intellectual Disability, Siderius Type XLN134 MRXSSD
X-Linked Intellectual Disability, Turner Type XLN179
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome XLN187
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 Monogenic Disease XLN230
X-Linked Nonsyndromic Deafness XLN004
X-Linked Non-Syndromic Sensorineural Deafness Type Dfn XLN174
X-Linked Opitz G/bbb Syndrome XLN015 XLOS
X-Linked Otopalatodigital Spectrum Disorders XLN240 OPSD
X-Linked Protoporphyria XLN067
X-Linked Pure Spastic Paraplegia XLN237
X-Linked Recessive Disease XLN228
Xq25 Duplication Syndrome XQ2003 DUP
Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated XQ2002
Xylt1-Cdg XYL001
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