Disease Name Symbol Acronym
X and Y Chromosomal Anomaly XND001
X Chromosome Number Anomaly XCH002
X Chromosome Number Anomaly with Female Phenotype XCH003
X Chromosome Number Anomaly with Male Phenotype XCH001
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 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
Xh Antigen XHN001
Xia-Gibbs Syndrome XGB001 XIGIS
X-Linked Alport Syndrome XLN231
X-Linked Alport Syndrome-Diffuse Leiomyomatosis XLN232
X-Linked B Cell Surface Antigen, Mouse, Homolog-Like 1 XLN225 XLRL
X-Linked Cerebellar Ataxia XLN076
X-Linked Cerebral Adrenoleukodystrophy XLN182
X-Linked Charcot-Marie-Tooth Disease XLN110 CMTX
X-Linked Chondrodysplasia Punctata 1 XLN227 CDPX1
X-Linked Chondrodysplasia Punctata 2 XLN229 CDPX2
X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction XLN242
X-Linked Complex Spastic Paraplegia XLN101
X-Linked Complicated Spastic Paraplegia Type 1 XLN085 SPG1
X-Linked Congenital Disorder of Glycosylation with Intellectual Disability As a Major Feature XLN238
X-Linked Congenital Generalized Hypertrichosis XLN215 CGH
X-Linked Congenital Retinoschisis XLN247
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 Hereditary Sensory and Autonomic Neuropathy with Deafness XLN075
X-Linked Immunodeficiency 74 XLN245 IMD74
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 Marfanoid Habitus XLN235
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, 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-Acromegaly-Hyperactivity Syndrome XLN210
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome XLN212
X-Linked Intellectual Disability-Epilepsy Syndrome XLN236
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 Mendelian Susceptibility to Mycobacterial Diseases XLN170
X-Linked Monogenic Disease XLN230
X-Linked Nephrolithiasis Type I XLN243 XRN
X-Linked Neurodegenerative Syndrome, Bertini Type XLN092
X-Linked Neurodegenerative Syndrome, Hamel Type XLN091
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 OPDSD
X-Linked Protoporphyria XLN067
X-Linked Pure Spastic Paraplegia XLN237
X-Linked Recessive Disease XLN228
X-Linked Retinitis Pigmentosa and Sinorespiratory Infections XLN246
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome XLN249
Xp11.2 Duplication XP1004
Xp22.13p22.2 Duplication Syndrome XP2002 DUP
Xp22.3 Microdeletion Syndrome XP2001 DEL
Xq12-Q13.3 Duplication Syndrome XQ1001 DUP
Xq25 Duplication Syndrome XQ2003 DUP
Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated XQ2002
Xylosidase Deficiency XYL002
Xylt1-Cdg XYL001
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