| 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 Adrenal Hypoplasia Congenita Due to a Nr0b1 Point Mutation |
XLN248 |
|
| 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, 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-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 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 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 Sensorineural Deafness |
XLN244 |
|
| 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 |
|
