Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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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 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 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 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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X-linked lissencephaly 2 |
X-linked lissencephaly with abnormal genitalia; X-..
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A lissencephaly characterized by structural brain ..[+]
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X-linked lymphoproliferative syndrome 1 |
XLP1;
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A lymphoproliferative syndrome characterized by se..[+]
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X-linked lymphoproliferative syndrome 2 |
XIAP deficiency; XLP2;
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A lymphoproliferative syndrome characterized by X-..[+]
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X-linked mental retardation Gustavson type |
mental retardation with optic atrophy, deafness an..
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A syndromic X-linked intellectual disability that ..[+]
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X-linked monogenic disease |
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A monogenic disease that has_material_basis_in mut..[+]
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14 articles | 18 matches |
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 myopathy with excessive autophagy |
XMEA;
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A myopathy that is characterized by childhood onse..[+]
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X-linked nephrogenic diabetes insipidus |
nephrogenic diabetes insipidus type 1;
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A nephrogenic diabetes insipidus that is character..[+]
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X-linked nephrolithiasis type I |
nephrolithiasis 1; NPHL1; X-linked nephrolithiasis..
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A renal tubular transport disease characterized by..[+]
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X-linked nonsyndromic deafness |
X-linked deafness;
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A nonsyndromic deafness characterized by an X-link..[+]
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1 articles | |
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 parkinsonism-spasticity syndrome |
X-linked Parkinsonism with spasticity; XPDS;
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A movement disease characterized by slowly progres..[+]
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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 reticulate pigmentary disorder |
Partington disease; PDR; X-linked reticulate pigme..
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A pigmentation disease characterized by early onse..[+]
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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 combined immunodeficiency |
SCID-X1; thymic epithelial hypoplasia; XSCID; X-Li..
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A severe combined immunodeficiency that is a X-lin..[+]
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X-linked severe congenital neutropenia |
SCNX; XLN;
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A severe congenital neutropenia that has_material_..[+]
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X-linked sideroblastic anemia with ataxia |
X-linked sideroblastic anemia and ataxia; Anemia s..
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A sideroblastic anemia that is characterized by de..[+]
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X-linked spermatogenic failure 2 |
SPGFX2;
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A spermatogenic failure that is characterized by m..[+]
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X-linked spermatogenic failure 3 |
SPGFX3;
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A spermatogenic failure characterized by asthenote..[+]
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X-linked spinal muscular atrophy 2 |
X-linked distal arthrogryposis multiplex congenita..
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A spinal muscular atrophy characterized by neonata..[+]
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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 |
SCAX3; X-linked ataxia-deafness syndrome; X-linked..
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An X-linked cerebellar ataxia characterized by ons..[+]
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X-linked spinocerebellar ataxia 4 |
SCAX4; X-linked ataxia-dementia syndrome; X-linked..
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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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