Search Diseases
???pagination.result.count???
???pagination.result.page??? 1 2 3 4 5 ???pagination.result.next???
Disease | Synonyms | Description | Articles | Phenotypes |
---|---|---|---|---|
X-linked ichthyosis |
An ichthyosis that is characterized by a build-up ..[+]
|
|||
xanthomatosis |
xanthelasmatosis
|
A lipid storage disease that is characterized by t..[+]
|
||
X-linked hyper IgM syndrome |
A hyper IgM syndrome that is characterized by neut..[+]
|
|||
X-linked Aarskog syndrome |
Aarskog-Scott syndrome; faciogenital dysplasia; Gr..
[+]
|
A syndromic X-linked intellectual disability affec..[+]
|
||
xeroderma of eyelid |
|
n_a
|
||
xanthogranulomatous cholecystitis |
|
A cholecystitis characterized by nodules containin..[+]
|
||
xerophthalmia |
Conjunctival xerosis
|
A dry eye syndrome that is characterized by conjun..[+]
|
||
xanthogranulomatous pyelonephritis |
n_a
|
|||
X-linked agammaglobulinemia |
X-linked agammaglobulinemia (disorder); Bruton aga..
[+]
|
An agammaglobulinemia that is that has_material_ba..[+]
|
||
xeroderma pigmentosum |
|
A syndrome that is characterized by a deficiency i..[+]
|
||
X-linked dominant hypophosphatemic rickets |
X-linked hypophosphatemia; Hypophosphatemia, Vitam..
[+]
|
A rickets has_material_basis_in X-linked mutations..[+]
|
1 articles | |
X-linked sideroblastic anemia with ataxia |
A sideroblastic anemia that is characterized by de..[+]
|
|||
X-linked nonsyndromic deafness |
X-linked deafness
|
A nonsyndromic deafness characterized by an X-link..[+]
|
1 articles | |
X-linked monogenic disease |
|
A monogenic disease that has_material_basis_in mut..[+]
|
14 articles | 18 matches |
X-linked myopathy with excessive autophagy |
XMEA
|
A myopathy that is characterized by childhood onse..[+]
|
||
X-linked hereditary ataxia |
|
n_a
|
1 articles | |
X-linked severe combined immunodeficiency |
A severe combined immunodeficiency that is a X-lin..[+]
|
|||
xanthinuria |
A purine-pyrimidine metabolic disorder characteriz..[+]
|
|||
X-linked chondrodysplasia punctata 1 |
chondrodystrophia calcificans congenita
|
A chondrodysplasia punctata that is characterized ..[+]
|
||
X-linked endothelial corneal dystrophy |
XECD
|
A corneal endothelial dystrophy that is characteri..[+]
|
||
XFE progeroid syndrome |
XPF-ERCC1 progeroid syndrome; XFEPS
|
A progeroid syndrome that is characterized by aged..[+]
|
1 articles | |
X-linked cleft palate with or without ankyloglossia |
X-linked cleft palate and ankyloglossia
|
A cleft palate that has_material_basis_in mutation..[+]
|
||
X-linked lymphoproliferative syndrome 1 |
XLP1
|
A lymphoproliferative syndrome characterized by se..[+]
|
||
X-linked lymphoproliferative syndrome 2 |
XLP2; XIAP deficiency
|
A lymphoproliferative syndrome characterized by X-..[+]
|
||
X-linked juvenile retinoschisis 1 |
A retinoschisis characterized by schisis (splittin..[+]
|
|||
X-linked intellectual disability-psychosis-macroorchidism syndrome |
A syndromic X-linked intellectual disability chara..[+]
|
|||
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |
mental retardation, X-linked, syndromic 32; MRXS32..
[+]
|
A syndromic X-linked intellectual disability chara..[+]
|
||
X-linked dyskeratosis congenita |
DKCX; Zinsser-Cole-Engman syndrome
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
Xia-Gibbs Syndrome |
MRD25; autosomal dominant mental retardation 25
|
An autosomal dominant intellectual developmental d..[+]
|
||
X-linked spermatogenic failure 2 |
SPGFX2
|
A spermatogenic failure that is characterized by m..[+]
|
||
X-linked spermatogenic failure 1 |
SPGFX1
|
A Sertoli cell-only syndrome characterized by X-li..[+]
|
||
X-linked chronic granulomatous disease |
X-linked chronic cytochrome b-negative granulomato..
[+]
|
A chronic granulomatous disease characterized by X..[+]
|
||
X-linked Emery-Dreifuss muscular dystrophy 1 |
EDMD1; EMD1; Emery-Dreifuss muscular dystrophy 1, ..
[+]
|
An Emery-Dreifuss muscular dystrophy that has_mate..[+]
|
||
X-linked Emery-Dreifuss muscular dystrophy 6 |
XMPMA; EDMD6; Emery-Dreifuss muscular dystrophy 6,..
[+]
|
An Emery-Dreifuss muscular dystrophy that has_mate..[+]
|
||
xanthinuria type I |
XAN1
|
A xanthinuria characterized by isolated deficiency..[+]
|
||
xanthinuria type II |
XAN2
|
A xanthinuria characterized by deficiency of xanth..[+]
|
||
X-linked adrenal hypoplasia congenita |
congenital adrenal hypoplasia
|
An adrenal cortical hypofunction that is character..[+]
|
||
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance |
|
A syndromic X-linked intellectual disability chara..[+]
|
||
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia |
XMEN
|
A T cell deficiency that is characterized by CD4 l..[+]
|
||
X-linked chondrodysplasia punctata 2 |
Conradi-Hunermann Syndrome; Happle syndrome
|
A chondrodysplasia puncata that has_material_basis..[+]
|
||
X-linked recessive hypophosphatemic rickets |
|
A rickets that has_material_basis_in mutation in t..[+]
|
||
X-linked spondyloepiphyseal dysplasia tarda |
|
A spondyloepiphyseal dysplasia that is characteriz..[+]
|
||
X-linked chronic idiopathic intestinal pseudo-obstruction |
|
An intestinal pseudo-obstruction that has_material..[+]
|
||
X-linked keratosis follicularis spinulosa decalvans |
|
A keratosis follicularis spinulosa decalvans that ..[+]
|
||
X-linked warfarin sensitivity |
|
An inherited metabolic disorder that is characteri..[+]
|
||
X-linked intellectual developmental disorder 109 |
fragile site on chromosome Xq28; Fragile XE syndro..
[+]
|
A syndromic X-linked intellectual disability chara..[+]
|
||
X-linked central diabetes insipidus |
X-linked neurohypophyseal diabetes insipidus
|
A central diabetes insipidus that has_material_bas..[+]
|
||
X-linked nephrogenic diabetes insipidus |
nephrogenic diabetes insipidus type 1
|
A nephrogenic diabetes insipidus that is character..[+]
|
||
X-linked mental retardation Gustavson type |
mental retardation with optic atrophy, deafness an..
[+]
|
A syndromic X-linked intellectual disability that ..[+]
|
||
X-linked dystonia-parkinsonism |
|
A focal dystonia that is characterized by parkinso..[+]
|
???pagination.result.page??? 1 2 3 4 5 ???pagination.result.next???