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Disease Synonyms Description Articles Phenotypes
X-linked ichthyosis
X-linked placental steryl-sulphatase deficiency; X.. [+]
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
hyperimmunoglobulin M syndrome; hyperimmunoglobuli.. [+]
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
Xanthogranulomatous pyelonephritis; Xanthogranulom.. [+]
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
X-linked sideroblastic anaemia with ataxia; X-link.. [+]
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
XSCID; X-Linked Severe Combined Immunodeficiency; .. [+]
A severe combined immunodeficiency that is a X-lin..[+]
xanthinuria
xanthine dehydrogenase deficiency; xanthine oxidas.. [+]
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
X-linked retinoschisis; XLRS; X-linked juvenile re.. [+]
A retinoschisis characterized by schisis (splittin..[+]
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked mental retardation 79; X-linked mental re.. [+]
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 chronic granulomatous disease
X-linked chronic cytochrome b-negative granulomato.. [+]
A chronic granulomatous disease characterized by X..[+]
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 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..[+]
X-linked Alport syndrome
nephropathy and deafness, X-linked; ATS
An Alport syndrome that has_material_basis_in muta..[+]
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
X-linked enamel hypoplasia; AIH3; amelogenesis imp.. [+]
An amelogenesis imperfecta associated with mutatio..[+]
X-linked dilated cardiomyopathy
CMD3B; DMD-related dilated cardiomyopathy
A dilated cardiomyopathy that has_material_basis_i..[+]
xeroderma pigmentosum group A
XP1; XPA; XP group A; xeroderma pigmentosum comple.. [+]
A xeroderma pigmentosum characterized by involveme..[+]
xeroderma pigmentosum group C
XP group C; XPC; XPCC; XP3; xeroderma pigmentosum .. [+]
A xeroderma pigmentosum characterized by increased..[+]
xeroderma pigmentosum group D
XP8; XPD; XPDC; XPH; xeroderma pigmentosum IV; XP4.. [+]
A xeroderma pigmentosum that has_material_basis_in..[+]
xeroderma pigmentosum group E
xeroderma pigmentosum V; XPE; XP5; XP group E
A xeroderma pigmentosum characterized by a mild ph..[+]

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