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Disease                  Synonyms                  Description
X-linked ichthyosis
X-linked recessive ichthyosis; X-linked placental steryl-sul.. [+]
An ichthyosis that is characterized by a build-up of scales ..[+]
xanthomatosis
xanthelasmatosis
A lipid storage disease that is characterized by the desposi..[+]
X-linked hyper IgM syndrome
hyperimmunoglobulin M syndrome; hyperimmunoglobulin M syndro.. [+]
A hyper IgM syndrome that is characterized by neutropenia an..[+]
xeroderma of eyelid
n_a
xanthogranulomatous cholecystitis
n_a
xerophthalmia
Conjunctival xerosis
n_a
xanthogranulomatous pyelonephritis
Xanthogranulomatous pyelonephritis (disorder); Xanthogranulo.. [+]
n_a
X-linked agammaglobulinemia
X-linked agammaglobulinemia (disorder); Bruton agammaglobuli.. [+]
An agammaglobulinemia that is that has_material_basis_in a m..[+]
xeroderma pigmentosum
A syndrome that is characterized by a deficiency in the abil..[+]
X-linked hypophosphatemic rickets
X-linked hypophosphatemia; Hypophosphatemia, Vitamin D-Resis.. [+]
A rickets that results has_material_basis in X-linked mutati..[+]
X-linked sideroblastic anemia with ataxia
X-linked sideroblastic anaemia with ataxia; X-linked siderob.. [+]
A sideroblastic anemia that is characterized by decreased pr..[+]
X-linked nonsyndromic deafness
X-linked deafness
A nonsyndromic deafness characterized by an X-linked inherit..[+]
X-linked disease
A monogenic disease that has_material_basis_in muations in g..[+]
X-linked myopathy with excessive autophagy
XMEA
n_a
X-linked hereditary ataxia
n_a
X-linked severe combined immunodeficiency
XSCID; X-Linked Severe Combined Immunodeficiency; SCID-X1; t.. [+]
A severe combined immunodeficiency that is a X-linked SCID t..[+]
xanthinuria
xanthine dehydrogenase deficiency; xanthine oxidase deficien.. [+]
A purine-pyrimidine metabolic disorder characterized by defi..[+]
X-linked chondrodysplasia punctata 1
chondrodystrophia calcificans congenita
A chondrodysplasia punctata that is characterized by maxilla..[+]
X-linked endothelial corneal dystrophy
XECD
A corneal endothelial dystrophy that is characterized by con..[+]
XFE progeroid syndrome
XPF-ERCC1 progeroid syndrome; XFEPS
A syndrome characterized by aged bird-like facies, lack of s..[+]
X-linked cleft palate with or without ankyloglossia
X-linked cleft palate and ankyloglossia
A cleft palate that has_material_basis in mutation in the TB..[+]
X-linked lymphoproliferative syndrome 1
XLP1
A lymphoproliferative syndrome characterized by severe immun..[+]
X-linked lymphoproliferative syndrome 2
XLP2; XIAP deficiency
A lymphoproliferative syndrome characterized by X-linked inh..[+]
X-linked juvenile retinoschisis 1
X-linked retinoschisis; XLRS; X-linked juvenile retinoschisi.. [+]
A retinoschisis characterized by schisis (splitting) of the ..[+]
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked mental retardation 79; X-linked mental retardation .. [+]
A syndromic X-linked intellectual disability characterized b..[+]
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
mental retardation, X-linked, syndromic 32; MRXS32
A syndromic X-linked intellectual disability characterized b..[+]
X-linked dyskeratosis congenita
DKCX; Zinsser-Cole-Engman syndrome
A dyskeratosis congenita that has_material_basis_in an X-lin..[+]
Xia-Gibbs Syndrome
autosomal dominant mental retardation 25; MRD25
An autosomal dominant non-syndromic intellectual disability ..[+]
X-linked adrenal hypoplasia congenita
congenital adrenal hypoplasia
An adrenal cortical hypofunction that is characterized by a ..[+]
X-linked chronic idiopathic intestinal pseudo-obstruction
An intestinal pseudo-obstruction that has_material_basis_in ..[+]
X-linked dystonia-parkinsonism
A focal dystonia characterized by parkinsonism that is frequ..[+]
X-linked Alport syndrome
nephropathy and deafness, X-linked; ATS
An Alport syndrome that has_material -basis_in mutation in t..[+]
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
X-linked enamel hypoplasia; AIH3; amelogenesis imperfecta t.. [+]
An amelogenesis imperfecta associated with mutation in a gen..[+]
xeroderma pigmentosum group A
XP1; XPA; XP group A; xeroderma pigmentosum complementation .. [+]
A xeroderma pigmentosum characterized by involvement of the ..[+]
xeroderma pigmentosum group C
XP3; XPCC; XPC; XP group C; xeroderma pigmentosum III
A xeroderma pigmentosum characterized by increased propensit..[+]
xeroderma pigmentosum group D
XP4; XP8; XPD; XPDC; XPH; xeroderma pigmentosum IV; XP group.. [+]
A xeroderma pigmentosum that has_material_basis_in homozygou..[+]
xeroderma pigmentosum group E
xeroderma pigmentosum V; XPE; XP5; XP group E
A xeroderma pigmentosum characterized by a mild phenotype th..[+]
xeroderma pigmentosum variant type
xeroderma pigmentosum with normal DNA repair rates; XPV; pho.. [+]
A xeroderma pigmentosum characterized by normal DNA excision..[+]
xeroderma pigmentosum group F
XPF; XP6; XP group F; xeroderma pigmentosum VI
A xeroderma pigmentosum characterized by milder symptoms and..[+]
xeroderma pigmentosum group G
xeroderma pigmentosum VII; XPG; XP7; XP group G
A xeroderma pigmentosum that has_material_basis_in homozygou..[+]
xeroderma pigmentosum group B
XP group B; XPBC; XPB
A xeroderma pigmentosum characterized by that has_material_b..[+]
X-linked cone-rod dystrophy 2
X-linked cone dystrophy 2; COD2; CORDX2
A cone-rod dystrophy that has_material_basis_in variation in..[+]
X-linked cone-rod dystrophy 3
CORDX3
A cone-rod dystrophy that has_material_basis_in mutation in ..[+]
X-linked cone-rod dystrophy 1
X-linked cone dystrophy 1; COD1; CORDX1
A cone-rod dystrophy that has_material_basis_in mutation in ..[+]
X-linked distal spinal muscular atrophy 3
X-linked recessive distal spinal muscular atrophy; X-linked .. [+]
A spinal muscular atrophy characterized by slowly progressiv..[+]
X-linked deafness 4
X-linked progressive deafness 6; DFN6; DFNX4; nonsyndromic s.. [+]
An X-linked nonsyndromic deafness characterized by progressi..[+]
X-linked deafness 3
congenital sensorineural X-linked deafness 4; DFN4; DFNX3
An X-linked nonsyndromic deafness characterized by congenita..[+]
X-linked deafness 2
X-linked stapes gusher syndrome; X-linked mixed conductive a.. [+]
An X-linked nonsyndromic deafness characterized by progressi..[+]
X-linked deafness 7
X-linked external auditory canal atresia-dilated internal au.. [+]
An X-linked nonsyndromic deafness characterized by congenita..[+]
X-linked deafness 1
X-linked sensorineural congenital deafness 2; DFN2; DFNX1
An X-linked nonsyndromic deafness characterized by congenita..[+]

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