Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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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 deafness 6 |
DFNX6;
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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 disease |
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A monogenic disease that has_material_basis_in mua..[+]
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X-linked dominant hypophosphatemic rickets |
Hypophosphatemia, Vitamin D-Resistant Rickets; hyp..
[+]
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A rickets has_material_basis_in X-linked mutations..[+]
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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 characterized by parkinsonism tha..[+]
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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 hereditary ataxia |
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n_a
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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 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 |
Lindsay-Burn syndrome; mental retardation with psy..
[+]
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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 lymphoproliferative syndrome 1 |
XLP1;
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A lymphoproliferative syndrome characterized by X-..[+]
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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 with cerebellar hypoplasia and distinctive facial appearance |
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A syndromic X-linked intellectual disability chara..[+]
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X-linked myopathy with excessive autophagy |
XMEA;
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n_a
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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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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 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 |
SCNX; XLN;
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A severe congenital neutropenia that has_material_..[+]
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X-linked sideroblastic anemia with ataxia |
Anemia sideroblastic and spinocerebellar ataxia; X..
[+]
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n_a
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X-linked spermatogenic failure 1 |
SPGFX1;
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A Sertoli cell-only syndrome characterized by X-li..[+]
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X-linked spinocerebellar ataxia 1 |
SCAX1; X-linked progressive cerebellar ataxia;
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An X-linked cerebellar ataxia characterized by hyp..[+]
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X-linked spondyloepimetaphyseal dysplasia |
SEMD X-linked; SEMDX;
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A spondyloepimetaphyseal dysplasia that has_materi..[+]
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X-linked spondyloepiphyseal dysplasia tarda |
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A spondyloepiphyseal dysplasia that is characteriz..[+]
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X-linked thrombocytopenia with beta-thalassemia |
beta-thalassemia-X-linked thrombocytopenia syndrom..
[+]
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A hematopoietic system disease characterized by va..[+]
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XFE progeroid syndrome |
XFEPS; XPF-ERCC1 progeroid syndrome;
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A syndrome characterized by aged bird-like facies,..[+]
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Xia-Gibbs Syndrome |
autosomal dominant mental retardation 25; MRD25;
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An autosomal dominant non-syndromic intellectual d..[+]
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Y-linked deafness 2 |
DFNY2;
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A Y-linked deafness characterized by male-limited ..[+]
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Y-linked disease |
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A monogenic disease that has_material_basis_in mua..[+]
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Y-linked spermatogenic failure 1 |
SPGFY1; type I Sertoli cell-only syndrome; Y-linke..
[+]
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A Sertoli cell-only syndrome that has_material_bas..[+]
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Yunis-Varon syndrome |
cleidocranial dysplasia with micrognathia, absent ..
[+]
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A syndrome characterized by skeletal defects, incl..[+]
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Zellweger syndrome |
cerebrohepatorenal syndrome ; congenital iron over..
[+]
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A peroxisomal biogenesis disorder that is characte..[+]
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Zika fever |
Zika virus disease;
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A viral infectious disease that has_material_basis..[+]
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Zika virus congenital syndrome |
ZIKV congenital infection;
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A syndrome that is characterized in neonates by mi..[+]
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Zollinger-Ellison syndrome |
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A syndrome that is haracterized by the development..[+]
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abdominal aortic aneurysm |
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1;
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An aortic aneurysm that is located_in the abdomina..[+]
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abdominal obesity-metabolic syndrome |
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n_a
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abdominal obesity-metabolic syndrome 1 |
abdominal obesity-metabolic syndrome 1; dysmetabol..
[+]
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An abdominal obesity-metabolic syndrome characteri..[+]
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abdominal obesity-metabolic syndrome 3 |
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An abdominal obesity-metabolic syndrome that has_m..[+]
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abdominal tuberculosis |
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An extrapulmonary tuberculosis that is located_in ..[+]
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abducens nerve neoplasm |
neoplasm of abducens nerve (disorder); VIth Crania..
[+]
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n_a
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abducens nerve palsy |
Abducens nerve disorder; Abducens nerve weakness; ..
[+]
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A cranial nerve palsy characterized by lateral rec..[+]
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abetalipoproteinemia |
familial hypobetalipoproteinemia; microsomal trigl..
[+]
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A hypolipoproteinemia that is characterized by an ..[+]
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ablepharon macrostomia syndrome |
poikiloderma with neutropenia, Clericuzio type;
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A syndrome characterized by ablepharon, macrostomi..[+]
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abnormal pupillary function |
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n_a
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