Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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X-linked ichthyosis |
An ichthyosis that is characterized by a build-up ..[+]
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xanthomatosis |
xanthelasmatosis
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A lipid storage disease that is characterized by t..[+]
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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 Aarskog syndrome |
Aarskog-Scott syndrome; faciogenital dysplasia; Gr..
[+]
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A syndromic X-linked intellectual disability affec..[+]
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xeroderma of eyelid |
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n_a
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xanthogranulomatous cholecystitis |
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n_a
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xerophthalmia |
Conjunctival xerosis
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A dry eye syndrome that is characterized by conjun..[+]
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xanthogranulomatous pyelonephritis |
n_a
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xeroderma pigmentosum |
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An autosomal recessive disease that is characteriz..[+]
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X-linked dominant hypophosphatemic rickets |
X-linked hypophosphatemia; Hypophosphatemia, Vitam..
[+]
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A rickets has_material_basis_in X-linked mutations..[+]
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X-linked sideroblastic anemia with ataxia |
X-linked sideroblastic anemia and ataxia; Anemia s..
[+]
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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 disease |
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A monogenic disease that has_material_basis_in mua..[+]
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X-linked myopathy with excessive autophagy |
XMEA
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n_a
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X-linked hereditary ataxia |
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n_a
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xanthinuria |
A purine-pyrimidine metabolic disorder characteriz..[+]
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X-linked chondrodysplasia punctata |
chondrodystrophia calcificans congenita
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n_a
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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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XFE progeroid syndrome |
XPF-ERCC1 progeroid syndrome; XFEPS
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A syndrome characterized by aged bird-like facies,..[+]
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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 lymphoproliferative syndrome 1 |
XLP1
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A lymphoproliferative syndrome characterized by X-..[+]
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X-linked lymphoproliferative syndrome 2 |
XLP2; XIAP deficiency
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A lymphoproliferative syndrome characterized by X-..[+]
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X-linked juvenile retinoschisis 1 |
A retinoschisis characterized by schisis (splittin..[+]
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X-linked intellectual disability-psychosis-macroorchidism syndrome |
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 dyskeratosis congenita |
DKCX; Zinsser-Cole-Engman syndrome
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A dyskeratosis congenita that has_material_basis_i..[+]
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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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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 Emery-Dreifuss muscular dystrophy 6 |
XMPMA; EDMD6; Emery-Dreifuss muscular dystrophy 6,..
[+]
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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xanthinuria type I |
XAN1
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A xanthinuria characterized by isolated deficiency..[+]
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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 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 spondyloepiphyseal dysplasia tarda |
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A spondyloepiphyseal dysplasia that is characteriz..[+]
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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 Alport syndrome |
ATS; nephropathy and deafness, X-linked
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An Alport syndrome that has_material -basis_in mut..[+]
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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 |
XPE; XP5; XP group E; xeroderma pigmentosum V
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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 |
XPG; XP7; XP group G; xeroderma pigmentosum VII
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A xeroderma pigmentosum that has_material_basis_in..[+]
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xeroderma pigmentosum group B |
XPBC; XPB; XP group B
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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 deafness 6 |
DFNX6
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An X-linked nonsyndromic deafness characterized by..[+]
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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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