Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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X-linked Emery-Dreifuss muscular dystrophy 1 |
EDMD1; EMD1; Emery-Dreifuss muscular dystrophy 1, ..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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X-linked Emery-Dreifuss muscular dystrophy 6 |
EDMD6; Emery-Dreifuss muscular dystrophy 6, X-link..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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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 adrenal hypoplasia congenita |
congenital adrenal hypoplasia;
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An adrenal cortical hypofunction that is character..[+]
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X-linked agammaglobulinemia |
Bruton agammaglobulinemia tyrosine kinase deficien..
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An agammaglobulinemia that is that has_material_ba..[+]
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X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 |
AIH3; amelogenesis imperfecta type IE X-linked 2 ..
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An amelogenesis imperfecta associated with mutatio..[+]
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X-linked atrophic macular degeneration |
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A macular degeneration characterized by macular at..[+]
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X-linked cardiac valvular dysplasia |
CVD1; Dystrophie valvulaire associee a FLNA; EDS 5..
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A heart valve disease characterized by multivalvul..[+]
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X-linked central diabetes insipidus |
X-linked neurohypophyseal diabetes insipidus;
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A central diabetes insipidus that has_material_bas..[+]
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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 chondrodysplasia punctata 1 |
chondrodystrophia calcificans congenita;
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A chondrodysplasia punctata that is characterized ..[+]
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X-linked chondrodysplasia punctata 2 |
Conradi-Hunermann Syndrome; Happle syndrome;
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A chondrodysplasia puncata that has_material_basis..[+]
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X-linked chronic granulomatous disease |
CDGX; X-linked chronic cytochrome b-negative granu..
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A chronic granulomatous disease characterized by X..[+]
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X-linked chronic idiopathic intestinal pseudo-obstruction |
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An intestinal pseudo-obstruction that has_material..[+]
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X-linked cleft palate with or without ankyloglossia |
X-linked cleft palate and ankyloglossia;
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A cleft palate that has_material_basis_in mutation..[+]
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X-linked cone-rod dystrophy 1 |
COD1; CORDX1; X-linked cone dystrophy 1;
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A cone-rod dystrophy that has_material_basis_in mu..[+]
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X-linked cone-rod dystrophy 2 |
COD2; CORDX2; X-linked cone dystrophy 2;
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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 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 congenital hemolytic anemia |
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A congenital hemolytic anemia characterized by mil..[+]
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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 deafness 1 |
DFN2; DFNX1; X-linked sensorineural congenital dea..
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An X-linked nonsyndromic deafness characterized by..[+]
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X-linked deafness 2 |
conductive deafness 3 with stapes fixation; conduc..
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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 4 |
DFN6; DFNX4; nonsyndromic sensorineural progressiv..
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An X-linked nonsyndromic deafness characterized by..[+]
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X-linked deafness 5 |
DFNX5; X-linked auditory neuropathy 1 with periphe..
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A neuropathy characterized by childhood onset of a..[+]
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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 7 |
DFNX7; X-linked external auditory canal atresia-di..
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An X-linked nonsyndromic deafness characterized by..[+]
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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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X-linked distal spinal muscular atrophy 3 |
ATP7A-related distal motor neuropathy; DSMAX; SMAX..
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A spinal muscular atrophy characterized by slowly ..[+]
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X-linked dominant hypophosphatemic rickets |
Hypophosphatemia, Vitamin D-Resistant Rickets; Ric..
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A rickets has_material_basis_in X-linked mutations..[+]
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1 articles | |
X-linked dyserythropoietic anemia |
X-linked anemia with/without neutropenia and/or pl..
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An anemia characterized by early-onset anemia and ..[+]
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X-linked dyskeratosis congenita |
DKCX; Zinsser-Cole-Engman syndrome;
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A dyskeratosis congenita that has_material_basis_i..[+]
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X-linked dystonia-parkinsonism |
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A focal dystonia that is characterized by parkinso..[+]
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X-linked endothelial corneal dystrophy |
XECD;
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A corneal endothelial dystrophy that is characteri..[+]
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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 exudative vitreoretinopathy 2 |
EVR2; EVRX; FEVRX;
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An exudative vitreoretinopathy that has_material_b..[+]
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X-linked hereditary ataxia |
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n_a
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1 articles | |
X-linked hyper IgM syndrome |
hyperimmunoglobulin M syndrome; hyperimmunoglobuli..
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A hyper IgM syndrome that is characterized by neut..[+]
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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 ichthyosis |
X-linked ichthyosis with steryl-sulphatase deficie..
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An ichthyosis that is characterized by a build-up ..[+]
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X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia |
XMEN;
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A T cell deficiency that is characterized by CD4 l..[+]
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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 intellectual developmental disorder 109 |
fragile site on chromosome Xq28; Fragile XE syndro..
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A syndromic X-linked intellectual disability chara..[+]
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X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |
mental retardation, X-linked, syndromic 32; MRXS32..
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A syndromic X-linked intellectual disability chara..[+]
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X-linked intellectual disability-psychosis-macroorchidism syndrome |
mental retardation with psychosis, pyramidal signs..
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A syndromic X-linked intellectual disability chara..[+]
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X-linked intellectual disability-short stature-overweight syndrome |
MRX12; MRX35; X-linked mental retardation 12; X-li..
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A syndromic X-linked intellectual disability chara..[+]
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X-linked juvenile retinoschisis 1 |
X-linked juvenile retinoschisis; X-linked retinosc..
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A retinoschisis characterized by schisis (splittin..[+]
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X-linked keratosis follicularis spinulosa decalvans |
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A keratosis follicularis spinulosa decalvans that ..[+]
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X-linked lissencephaly 1 |
lissencephaly type 1 due to doublecortin gene muta..
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A lissencephaly characterized by classic lissencep..[+]
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