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Disease	Synonyms	Description	Articles	Phenotypes
X-linked deafness 3	congenital sensorineural X-linked deafness 4; DFN4.. [+] congenital sensorineural X-linked deafness 4; DFN4; DFNX3; [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2. [-]
X-linked deafness 4	DFN6; DFNX4; nonsyndromic sensorineural progressiv.. [+] DFN6; DFNX4; nonsyndromic sensorineural progressive deafness 6; X-linked progressive deafness 6; [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. [-]
X-linked deafness 5	DFNX5; X-linked auditory neuropathy 1 with periphe.. [+] DFNX5; X-linked auditory neuropathy 1 with peripheral sensory neuropathy; X-linked HSAN with deafness; AUNX1; X-linked auditory neuropathy with peripheral sensory neuropathy type 1; [-]	A neuropathy characterized by childhood onset of a..[+] A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1. [-]
X-linked deafness 6	DFNX6;	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3. [-]
X-linked deafness 7	DFNX7; X-linked external auditory canal atresia-di.. [+] DFNX7; X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome; [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. [-]
X-linked dilated cardiomyopathy	CMD3B; DMD-related dilated cardiomyopathy;	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting. [-]
X-linked distal spinal muscular atrophy 3	ATP7A-related distal motor neuropathy; DSMAX; SMAX.. [+] ATP7A-related distal motor neuropathy; DSMAX; SMAX3; X-linked distal hereditary motor neuropathy type 3; X-linked dSMA3; X-linked dHMN3; X-linked recessive distal spinal muscular atrophy; [-]	A spinal muscular atrophy characterized by slowly ..[+] A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. [-]
X-linked dominant hypophosphatemic rickets	Hypophosphatemia, Vitamin D-Resistant Rickets; Ric.. [+] Hypophosphatemia, Vitamin D-Resistant Rickets; Rickets, Vitamin D-Resistant; Vitamin D-Resistant Rickets, X-Linked; X-linked hypophosphatemia; hypophosphatemic rickets X-linked dominant; [-]	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. [-]	1 articles
X-linked dyserythropoietic anemia	X-linked anemia with/without neutropenia and/or pl.. [+] X-linked anemia with/without neutropenia and/or platelet abnormalities; X-linked dyserythropoietic anemia with abnormal platelets and neutropenia; [-]	An anemia characterized by early-onset anemia and ..[+] An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. [-]
X-linked dyskeratosis congenita	DKCX; Zinsser-Cole-Engman syndrome;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. [-]
X-linked dystonia-parkinsonism		A focal dystonia that is characterized by parkinso..[+] A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. [-]
X-linked endothelial corneal dystrophy	XECD;	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. [-]
X-linked epilepsy with variable learning disabilities and behavior disorders	X-linked epilepsy-learning disabilities-behavior d.. [+] X-linked epilepsy-learning disabilities-behavior disorders syndrome; [-]	An epilepsy characterized by epilepsy with variabl..[+] An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. [-]
X-linked hereditary ataxia		n_a	1 articles
X-linked hyper IgM syndrome	hyperimmunoglobulin M syndrome; hyperimmunoglobuli.. [+] 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; X-linked hyper-IgM immunodeficiency; XHIM; [-]	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. [-]
X-linked ichthyosis	X-linked ichthyosis with steryl-sulphatase deficie.. [+] X-linked ichthyosis with steryl-sulphatase deficiency; X-linked recessive ichthyosis; X-linked placental steryl-sulphatase deficiency; [-]	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. [-]
X-linked intellectual developmental disorder 108	MRX108;	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. [-]
X-linked intellectual developmental disorder 109	fragile site on chromosome Xq28; Fragile XE syndro.. [+] fragile site on chromosome Xq28; Fragile XE syndrome; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. [-]
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	mental retardation, X-linked, syndromic 32; MRXS32.. [+] mental retardation, X-linked, syndromic 32; MRXS32; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. [-]
X-linked intellectual disability-psychosis-macroorchidism syndrome	mental retardation with psychosis, pyramidal signs.. [+] mental retardation with psychosis, pyramidal signs, and macroorchidism; mental retardation, X-linked, syndromic 13; MRXS13; PPM-X; X-linked mental retardation with spasticity; Lindsay-Burn syndrome; X-linked mental retardation 79; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. [-]
X-linked intellectual disability-short stature-overweight syndrome	MRX12; MRX35; X-linked mental retardation 12; X-li.. [+] MRX12; MRX35; X-linked mental retardation 12; X-linked mental retardation 35; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. [-]
X-linked juvenile retinoschisis 1	X-linked juvenile retinoschisis; X-linked retinosc.. [+] X-linked juvenile retinoschisis; X-linked retinoschisis; XLRS; [-]	A retinoschisis characterized by schisis (splittin..[+] A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. [-]
X-linked keratosis follicularis spinulosa decalvans		A keratosis follicularis spinulosa decalvans that ..[+] A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. [-]
X-linked lissencephaly 1	lissencephaly type 1 due to doublecortin gene muta.. [+] lissencephaly type 1 due to doublecortin gene mutation; XLIS1; [-]	A lissencephaly characterized by classic lissencep..[+] A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. [-]
X-linked lissencephaly 2	X-linked lissencephaly with abnormal genitalia; X-.. [+] X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly with ambiguous genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; XLAG; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome; XLIS2; [-]	A lissencephaly characterized by structural brain ..[+] A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. [-]
X-linked lymphoproliferative syndrome 1	XLP1;	A lymphoproliferative syndrome characterized by se..[+] A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. [-]
X-linked lymphoproliferative syndrome 2	XIAP deficiency; XLP2;	A lymphoproliferative syndrome characterized by X-..[+] A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. [-]
X-linked mental retardation Gustavson type	mental retardation with optic atrophy, deafness an.. [+] mental retardation with optic atrophy, deafness and seizures; [-]	A syndromic X-linked intellectual disability that ..[+] A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. [-]
X-linked monogenic disease		A monogenic disease that has_material_basis_in mut..[+] A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. [-]	14 articles	18 matches
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques	X-linked Olmsted syndrome; OLMSX;	A mutilating palmoplantar keratoderma with periori..[+] A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. [-]
X-linked myopathy with excessive autophagy	XMEA;	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. [-]
X-linked nephrogenic diabetes insipidus	nephrogenic diabetes insipidus type 1;	A nephrogenic diabetes insipidus that is character..[+] A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. [-]
X-linked nephrolithiasis type I	nephrolithiasis 1; NPHL1; X-linked nephrolithiasis.. [+] nephrolithiasis 1; NPHL1; X-linked nephrolithiasis with renal failure; X-linked recessive urolithiasis type 1; XRN; nephrolithiasis X-linked recessive type 1; [-]	A renal tubular transport disease characterized by..[+] A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. [-]
X-linked nonsyndromic deafness	X-linked deafness;	A nonsyndromic deafness characterized by an X-link..[+] A nonsyndromic deafness characterized by an X-linked inheritance mode. [-]	1 articles
X-linked panhypopituitarism	PHPX; pituitary dwarfism IV;	A panhypopituitarism that has_material_basis_in du..[+] A panhypopituitarism that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. [-]
X-linked parkinsonism-spasticity syndrome	X-linked Parkinsonism with spasticity; XPDS;	A movement disease characterized by slowly progres..[+] A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. [-]
X-linked properdin deficiency	CFPD; complement factor properdin deficiency;	A complement deficiency characterized by decreased..[+] A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. [-]
X-linked reticulate pigmentary disorder	Partington disease; PDR; X-linked reticulate pigme.. [+] Partington disease; PDR; X-linked reticulate pigmentary disorder with systemic manifestations; [-]	A pigmentation disease characterized by early onse..[+] A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. [-]
X-linked retinitis pigmentosa and sinorespiratory infections	primary ciliary dyskinesia-retinitis pigmentosa sy.. [+] primary ciliary dyskinesia-retinitis pigmentosa syndrome; [-]	A syndrome characterized by retinitis pigmentosa a..[+] A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. [-]
X-linked severe combined immunodeficiency	SCID-X1; thymic epithelial hypoplasia; XSCID; X-Li.. [+] SCID-X1; thymic epithelial hypoplasia; XSCID; X-Linked Severe Combined Immunodeficiency; gamma chain deficiency; [-]	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. [-]
X-linked severe congenital neutropenia	SCNX; XLN;	A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. [-]
X-linked sideroblastic anemia with ataxia	X-linked sideroblastic anemia and ataxia; Anemia s.. [+] X-linked sideroblastic anemia and ataxia; Anemia sideroblastic and spinocerebellar ataxia; X-linked sideroblastic anaemia and ataxia; X-linked sideroblastic anaemia with ataxia; Anemia, sideroblastic, spinocerebellar ataxia; [-]	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. [-]
X-linked spermatogenic failure 2	SPGFX2;	A spermatogenic failure that is characterized by m..[+] A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. [-]
X-linked spermatogenic failure 3	SPGFX3;	A spermatogenic failure characterized by asthenote..[+] A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. [-]
X-linked spinal muscular atrophy 2	X-linked distal arthrogryposis multiplex congenita.. [+] X-linked distal arthrogryposis multiplex congenita; X-linked spinal muscular atrophy type 2; infantile-onset X-linked spinal muscular atrophy; SMAX2; spinal muscular atrophy with arthrogryposis; [-]	A spinal muscular atrophy characterized by neonata..[+] A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. [-]
X-linked spinocerebellar ataxia 1	X-linked progressive cerebellar ataxia; SCAX1;	An X-linked cerebellar ataxia characterized by hyp..[+] An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. [-]
X-linked spinocerebellar ataxia 2	cerebellar ataxia with extrapyramidal involvement .. [+] cerebellar ataxia with extrapyramidal involvement early-onset; SCAX2; [-]	An X-linked cerebellar ataxia characterized by inf..[+] An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. [-]
X-linked spinocerebellar ataxia 3	SCAX3; X-linked ataxia-deafness syndrome; X-linked.. [+] SCAX3; X-linked ataxia-deafness syndrome; X-linked spinocerebellar ataxia type 3; [-]	An X-linked cerebellar ataxia characterized by ons..[+] An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. [-]
X-linked spinocerebellar ataxia 4	SCAX4; X-linked ataxia-dementia syndrome; X-linked.. [+] SCAX4; X-linked ataxia-dementia syndrome; X-linked spinocerebellar ataxia type 4; [-]	An X-linked cerebellar ataxia characterized by ata..[+] An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. [-]
X-linked spinocerebellar ataxia 5	X-linked non progressive cerebellar ataxia; SCAX5;.. [+] X-linked non progressive cerebellar ataxia; SCAX5; Spinocerebellar Ataxia, X-Linked 5; [-]	An X-linked cerebellar ataxia characterized by neo..[+] An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. [-]

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