| 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
|
MRD25
|
| Xk Aprosencephaly
|
XKP001
|
|
| X-Linked Acrogigantism Due to a Point Mutation
|
XLN202
|
|
| 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 Charcot-Marie-Tooth Disease
|
XLN110
|
CMTX
|
| X-Linked Chondrodysplasia Punctata 1
|
XLN227
|
CDPX1
|
| X-Linked Chondrodysplasia Punctata 2
|
XLN229
|
CDPX2
|
| X-Linked Complex Spastic Paraplegia
|
XLN101
|
|
| X-Linked Complicated Corpus Callosum Agenesis
|
XLN220
|
|
| 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 Stationary Night Blindness
|
XLN012
|
|
| X-Linked Distal Hereditary Motor Neuropathy
|
XLN239
|
|
| X-Linked Dystonia-Parkinsonism/lubag
|
XLN216
|
XDP
|
| X-Linked Ehlers-Danlos Syndrome
|
XLN086
|
|
| 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 Marfanoid Habitus
|
XLN235
|
|
| 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, Sutherland-Haan Type
|
XLN155
|
|
| 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 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 Lissencephaly with Abnormal Genitalia
|
XLN107
|
XLAG
|
| X-Linked Mendelian Susceptibility to Mycobacterial Diseases
|
XLN170
|
|
| X-Linked Monogenic Disease
|
XLN230
|
|
| 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 Pure Spastic Paraplegia
|
XLN237
|
|
| X-Linked Recessive Disease
|
XLN228
|
|
| 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
|
|
