Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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X-linked Alport syndrome |
nephropathy and deafness, X-linked; ATS
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An Alport syndrome that has_material_basis_in muta..[+]
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X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 |
X-linked enamel hypoplasia; AIH3; amelogenesis imp..
[+]
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An amelogenesis imperfecta associated with mutatio..[+]
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X-linked dilated cardiomyopathy |
CMD3B; DMD-related dilated cardiomyopathy
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A dilated cardiomyopathy that has_material_basis_i..[+]
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xeroderma pigmentosum group A |
A xeroderma pigmentosum characterized by involveme..[+]
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xeroderma pigmentosum group C |
A xeroderma pigmentosum characterized by increased..[+]
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xeroderma pigmentosum group D |
A xeroderma pigmentosum that has_material_basis_in..[+]
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xeroderma pigmentosum group E |
xeroderma pigmentosum V; XPE; XP5; XP group E
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A xeroderma pigmentosum characterized by a mild ph..[+]
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xeroderma pigmentosum variant type |
A xeroderma pigmentosum characterized by normal DN..[+]
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xeroderma pigmentosum group F |
XPF; XP6; XP group F; xeroderma pigmentosum VI
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A xeroderma pigmentosum characterized by milder sy..[+]
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xeroderma pigmentosum group G |
xeroderma pigmentosum VII; XPG; XP7; XP group G
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A xeroderma pigmentosum that has_material_basis_in..[+]
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xeroderma pigmentosum group B |
XP group B; XPBC; XPB
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A xeroderma pigmentosum characterized by that has_..[+]
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X-linked cone-rod dystrophy 2 |
X-linked cone dystrophy 2; COD2; CORDX2
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A cone-rod dystrophy that has_material_basis_in va..[+]
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X-linked cone-rod dystrophy 3 |
CORDX3
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A cone-rod dystrophy that has_material_basis_in mu..[+]
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X-linked cone-rod dystrophy 1 |
X-linked cone dystrophy 1; COD1; CORDX1
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A cone-rod dystrophy that has_material_basis_in mu..[+]
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X-linked distal spinal muscular atrophy 3 |
X-linked recessive distal spinal muscular atrophy; ..
[+]
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A spinal muscular atrophy characterized by slowly ..[+]
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X-linked congenital myopathy with fiber-type disproportion |
CFTDX
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A congenital fiber-type disproportion characterize..[+]
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X-linked hypoparathyroidism |
agenesis of parathyroid glands; HYPX
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A hypoparathyroidism that has_material_basis_in mu..[+]
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X-linked exudative vitreoretinopathy 2 |
EVR2; EVRX; FEVRX
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An exudative vitreoretinopathy that has_material_b..[+]
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X-linked deafness 4 |
X-linked progressive deafness 6; DFN6; DFNX4; nons..
[+]
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An X-linked nonsyndromic deafness characterized by..[+]
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X-linked deafness 3 |
congenital sensorineural X-linked deafness 4; DFN4..
[+]
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An X-linked nonsyndromic deafness characterized by..[+]
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X-linked deafness 2 |
An X-linked nonsyndromic deafness characterized by..[+]
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X-linked deafness 7 |
X-linked external auditory canal atresia-dilated i..
[+]
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An X-linked nonsyndromic deafness characterized by..[+]
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X-linked deafness 1 |
X-linked sensorineural congenital deafness 2; DFN2..
[+]
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An X-linked nonsyndromic deafness characterized by..[+]
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X-linked deafness 6 |
DFNX6
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An X-linked nonsyndromic deafness characterized by..[+]
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X-linked deafness 5 |
X-linked auditory neuropathy with peripheral senso..
[+]
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A neuropathy characterized by childhood onset of a..[+]
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X-linked cardiac valvular dysplasia |
XMVD; CVD1; Dystrophie valvulaire associee a FLNA; ..
[+]
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A heart valve disease characterized by multivalvul..[+]
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X-linked VACTERL association |
VACTERL association, X-linked with or without hydr..
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A VACTERL association that has_material_basis_in m..[+]
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X-linked thrombocytopenia with beta-thalassemia |
XLTT; beta-thalassemia-X-linked thrombocytopenia s..
[+]
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A hematopoietic system disease characterized by va..[+]
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X-linked properdin deficiency |
CFPD; complement factor properdin deficiency
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A complement deficiency characterized by decreased..[+]
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X-linked panhypopituitarism |
PHPX; pituitary dwarfism IV
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A panhypopituitarism that has_material_basis_in du..[+]
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X-linked nephrolithiasis type I |
A renal tubular transport disease characterized by..[+]
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X-linked spinal muscular atrophy 2 |
A spinal muscular atrophy characterized by neonata..[+]
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X-linked cerebellar ataxia |
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A hereditary ataxia characterized by X-linked inhe..[+]
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X-linked spinocerebellar ataxia 1 |
X-linked progressive cerebellar ataxia; SCAX1
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An X-linked cerebellar ataxia characterized by hyp..[+]
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X-linked spinocerebellar ataxia 2 |
cerebellar ataxia with extrapyramidal involvement ..
[+]
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An X-linked cerebellar ataxia characterized by inf..[+]
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X-linked spinocerebellar ataxia 3 |
An X-linked cerebellar ataxia characterized by ons..[+]
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X-linked spinocerebellar ataxia 4 |
An X-linked cerebellar ataxia characterized by ata..[+]
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X-linked spinocerebellar ataxia 5 |
X-linked non progressive cerebellar ataxia; SCAX5; ..
[+]
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An X-linked cerebellar ataxia characterized by neo..[+]
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X-linked reticulate pigmentary disorder |
X-linked reticulate pigmentary disorder with syste..
[+]
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A pigmentation disease characterized by early onse..[+]
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X-linked intellectual developmental disorder 108 |
MRX108
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A syndromic X-linked intellectual disability chara..[+]
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X-linked congenital hemolytic anemia |
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A congenital hemolytic anemia characterized by mil..[+]
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X-linked congenital bilateral absence of vas deferens |
CBAVDX
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A congenital bilateral absence of vas deferens tha..[+]
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X-linked thrombophilia due to factor IX defect |
THPH8
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A thrombophilia characterized by normal levels of ..[+]
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X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques |
X-linked Olmsted syndrome; OLMSX
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A mutilating palmoplantar keratoderma with periori..[+]
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X-linked intellectual disability-short stature-overweight syndrome |
A syndromic X-linked intellectual disability chara..[+]
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X-Linked immunodeficiency 74 |
X-linked immunodeficiency 74,COVID-19-related; IMD..
[+]
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A T cell deficiency characterized by severe respir..[+]
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X-linked parkinsonism-spasticity syndrome |
XPDS; X-linked Parkinsonism with spasticity
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A movement disease characterized by slowly progres..[+]
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X-linked epilepsy with variable learning disabilities and behavior disorders |
X-linked epilepsy-learning disabilities-behavior d..
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An epilepsy characterized by epilepsy with variabl..[+]
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X-linked retinitis pigmentosa and sinorespiratory infections |
primary ciliary dyskinesia-retinitis pigmentosa sy..
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A syndrome characterized by retinitis pigmentosa a..[+]
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X-linked severe congenital neutropenia |
XLN; SCNX
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A severe congenital neutropenia that has_material_..[+]
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