Search Diseases
Results 1 - 50 of 172 results
Disease | Synonyms | Description |
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X-linked ichthyosis |
An ichthyosis that is characterized by a build-up of scales ..[+]
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xanthomatosis |
xanthelasmatosis
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A lipid storage disease that is characterized by the desposi..[+]
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X-linked hyper IgM syndrome |
hyperimmunoglobulin M syndrome; hyperimmunoglobulin M syndro..
[+]
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A hyper IgM syndrome that is characterized by neutropenia an..[+]
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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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n_a
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xanthogranulomatous pyelonephritis |
n_a
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X-linked agammaglobulinemia |
X-linked agammaglobulinemia (disorder); Bruton agammaglobuli..
[+]
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An agammaglobulinemia that is that has_material_basis_in a m..[+]
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xeroderma pigmentosum |
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A syndrome that is characterized by a deficiency in the abil..[+]
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X-linked hypophosphatemic rickets |
X-linked hypophosphatemia; Hypophosphatemia, Vitamin D-Resis..
[+]
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A rickets that results has_material_basis in X-linked mutati..[+]
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X-linked sideroblastic anemia with ataxia |
A sideroblastic anemia that is characterized by decreased pr..[+]
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X-linked nonsyndromic deafness |
X-linked deafness
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A nonsyndromic deafness characterized by an X-linked inherit..[+]
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X-linked disease |
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A monogenic disease that has_material_basis_in muations in g..[+]
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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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X-linked severe combined immunodeficiency |
A severe combined immunodeficiency that is a X-linked SCID t..[+]
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xanthinuria |
A purine-pyrimidine metabolic disorder characterized by defi..[+]
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X-linked chondrodysplasia punctata 1 |
chondrodystrophia calcificans congenita
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A chondrodysplasia punctata that is characterized by maxilla..[+]
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X-linked endothelial corneal dystrophy |
XECD
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A corneal endothelial dystrophy that is characterized by con..[+]
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XFE progeroid syndrome |
XPF-ERCC1 progeroid syndrome; XFEPS
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A syndrome characterized by aged bird-like facies, lack of s..[+]
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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 in the TB..[+]
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X-linked lymphoproliferative syndrome 1 |
XLP1
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A lymphoproliferative syndrome characterized by severe immun..[+]
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X-linked lymphoproliferative syndrome 2 |
XLP2; XIAP deficiency
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A lymphoproliferative syndrome characterized by X-linked inh..[+]
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X-linked juvenile retinoschisis 1 |
A retinoschisis characterized by schisis (splitting) of the ..[+]
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X-linked intellectual disability-psychosis-macroorchidism syndrome |
A syndromic X-linked intellectual disability characterized b..[+]
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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 characterized b..[+]
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X-linked dyskeratosis congenita |
DKCX; Zinsser-Cole-Engman syndrome
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A dyskeratosis congenita that has_material_basis_in an X-lin..[+]
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Xia-Gibbs Syndrome |
MRD25; autosomal dominant mental retardation 25
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An autosomal dominant non-syndromic intellectual disability ..[+]
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X-linked chronic granulomatous disease |
X-linked chronic cytochrome b-negative granulomatous disease..
[+]
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A chronic granulomatous disease characterized by X-linked in..[+]
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X-linked adrenal hypoplasia congenita |
congenital adrenal hypoplasia
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An adrenal cortical hypofunction that is characterized by a ..[+]
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X-linked chronic idiopathic intestinal pseudo-obstruction |
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An intestinal pseudo-obstruction that has_material_basis_in ..[+]
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X-linked keratosis follicularis spinulosa decalvans |
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A keratosis follicularis spinulosa decalvans that has_materi..[+]
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X-linked warfarin sensitivity |
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An inherited metabolic disorder that is characterized by ble..[+]
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X-linked dystonia-parkinsonism |
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A focal dystonia characterized by parkinsonism that is frequ..[+]
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X-linked Alport syndrome |
nephropathy and deafness, X-linked; ATS
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An Alport syndrome that has_material -basis_in mutation in t..[+]
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X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 |
X-linked enamel hypoplasia; AIH3; amelogenesis imperfecta t..
[+]
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An amelogenesis imperfecta associated with mutation in a gen..[+]
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xeroderma pigmentosum group A |
A xeroderma pigmentosum characterized by involvement of the ..[+]
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xeroderma pigmentosum group C |
XP3; XPCC; XPC; XP group C; xeroderma pigmentosum III
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A xeroderma pigmentosum characterized by increased propensit..[+]
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xeroderma pigmentosum group D |
A xeroderma pigmentosum that has_material_basis_in homozygou..[+]
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xeroderma pigmentosum group E |
xeroderma pigmentosum V; XPE; XP5; XP group E
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A xeroderma pigmentosum characterized by a mild phenotype th..[+]
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xeroderma pigmentosum variant type |
A xeroderma pigmentosum characterized by normal DNA excision..[+]
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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 symptoms and..[+]
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xeroderma pigmentosum group G |
xeroderma pigmentosum VII; XPG; XP7; XP group G
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A xeroderma pigmentosum that has_material_basis_in homozygou..[+]
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xeroderma pigmentosum group B |
XP group B; XPBC; XPB
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A xeroderma pigmentosum characterized by that has_material_b..[+]
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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 variation in..[+]
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X-linked cone-rod dystrophy 3 |
CORDX3
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A cone-rod dystrophy that has_material_basis_in mutation in ..[+]
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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 mutation in ..[+]
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X-linked distal spinal muscular atrophy 3 |
A spinal muscular atrophy characterized by slowly progressiv..[+]
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X-linked deafness 4 |
X-linked progressive deafness 6; DFN6; DFNX4; nonsyndromic s..
[+]
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An X-linked nonsyndromic deafness characterized by progressi..[+]
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X-linked deafness 3 |
congenital sensorineural X-linked deafness 4; DFN4; DFNX3
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An X-linked nonsyndromic deafness characterized by congenita..[+]
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