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Synonyms |
Description |
Articles |
Phenotypes |
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X-linked ichthyosis
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X-linked placental steryl-sulphatase deficiency; X..
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X-linked placental steryl-sulphatase deficiency; X-linked recessive ichthyosis; X-linked ichthyosis with steryl-sulphatase deficiency
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An ichthyosis that is characterized by a build-up .. [+]An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.
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xanthomatosis
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xanthelasmatosis
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A lipid storage disease that is characterized by t.. [+]A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.
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X-linked hyper IgM syndrome
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X-linked hyper-IgM immunodeficiency; XHIM; hyperim..
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XHIM; X-linked hyper-IgM immunodeficiency; hyperimmunoglobulin M syndrome; hyperimmunoglobulin M syndrome (disorder); HIGM1; hyper-IgM immunodeficiency syndrome type 1; hyper-IgM syndrome 1; hyper-IgM syndrome type 1; immunodeficiency with hyper-IgM type 1
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A hyper IgM syndrome that is characterized by neut.. [+]A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3.
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X-linked Aarskog syndrome
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Aarskog-Scott syndrome; faciogenital dysplasia; Gr..
[+]Aarskog-Scott syndrome; faciogenital dysplasia; Greig's syndrome
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A syndromic X-linked intellectual disability affec.. [+]A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.
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xeroderma of eyelid
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n_a
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xanthogranulomatous cholecystitis
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A cholecystitis characterized by nodules containin.. [+]A cholecystitis characterized by nodules containing lipid-laden macrophages.
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xerophthalmia
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Conjunctival xerosis
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A dry eye syndrome that is characterized by conjun.. [+]A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency.
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xanthogranulomatous pyelonephritis
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Xanthogranulomatous pyelonephritis; Xanthogranulom..
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Xanthogranulomatous pyelonephritis; Xanthogranulomatous pyelonephritis (disorder)
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n_a
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X-linked agammaglobulinemia
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X-linked agammaglobulinemia (disorder); Bruton aga..
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X-linked agammaglobulinemia (disorder); Bruton agammaglobulinemia tyrosine kinase deficiency; Bruton's Sex-Linked Agammaglobulinemia; Bruton's type agammaglobulinemia; Bruton's agammaglobulinaemia; Bruton-type agammaglobulinemia; BTK deficiency; Bruton disease
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An agammaglobulinemia that is that has_material_ba.. [+]An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
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xeroderma pigmentosum
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A syndrome that is characterized by a deficiency i.. [+]A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
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X-linked dominant hypophosphatemic rickets
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X-linked hypophosphatemia; Hypophosphatemia, Vitam..
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X-linked hypophosphatemia; Hypophosphatemia, Vitamin D-Resistant Rickets; Rickets, Vitamin D-Resistant; Vitamin D-Resistant Rickets, X-Linked; hypophosphatemic rickets X-linked dominant
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A rickets has_material_basis_in X-linked mutations.. [+]A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
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1 articles
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X-linked sideroblastic anemia with ataxia
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X-linked sideroblastic anaemia with ataxia; X-link..
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X-linked sideroblastic anaemia with ataxia; X-linked sideroblastic anaemia and ataxia; X-linked sideroblastic anemia and ataxia; Anemia sideroblastic and spinocerebellar ataxia; Anemia, sideroblastic, spinocerebellar ataxia
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A sideroblastic anemia that is characterized by de.. [+]A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.
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X-linked nonsyndromic deafness
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X-linked deafness
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A nonsyndromic deafness characterized by an X-link.. [+]A nonsyndromic deafness characterized by an X-linked inheritance mode.
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1 articles
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X-linked monogenic disease
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A monogenic disease that has_material_basis_in mut.. [+]A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
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14 articles
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18 matches
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X-linked myopathy with excessive autophagy
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XMEA
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A myopathy that is characterized by childhood onse.. [+]A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.
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X-linked hereditary ataxia
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n_a
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1 articles
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X-linked severe combined immunodeficiency
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XSCID; X-Linked Severe Combined Immunodeficiency; ..
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X-Linked Severe Combined Immunodeficiency; XSCID; SCID-X1; thymic epithelial hypoplasia; gamma chain deficiency
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A severe combined immunodeficiency that is a X-lin.. [+]A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
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xanthinuria
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xanthine dehydrogenase deficiency; xanthine oxidas..
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xanthine dehydrogenase deficiency; xanthine oxidase deficiency; classic xanthinuria; hereditary xanthinuria
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A purine-pyrimidine metabolic disorder characteriz.. [+]A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
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X-linked chondrodysplasia punctata 1
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chondrodystrophia calcificans congenita
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A chondrodysplasia punctata that is characterized .. [+]A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.
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X-linked endothelial corneal dystrophy
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XECD
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A corneal endothelial dystrophy that is characteri.. [+]A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
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