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Disease	Synonyms	Description	Articles
X-linked adrenal hypoplasia congenita	congenital adrenal hypoplasia;	An adrenal cortical hypofunction that is character..[+] An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. [-]
X-linked agammaglobulinemia	Bruton agammaglobulinemia tyrosine kinase deficien.. [+] Bruton agammaglobulinemia tyrosine kinase deficiency; Bruton's Sex-Linked Agammaglobulinemia; Bruton's type agammaglobulinemia; X-linked agammaglobulinemia (disorder); Bruton's agammaglobulinaemia; Bruton-type agammaglobulinemia; BTK deficiency; Bruton disease; [-]	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. [-]
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	AIH3; amelogenesis imperfecta type IE X-linked 2 .. [+] AIH3; amelogenesis imperfecta type IE X-linked 2 ; X-linked enamel hypoplasia; amelogenesis imperfecta 3 hypoplastic type; [-]	An amelogenesis imperfecta associated with mutatio..[+] An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. [-]
X-linked atrophic macular degeneration		A macular degeneration characterized by macular at..[+] A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4. [-]
X-linked cardiac valvular dysplasia	CVD1; Dystrophie valvulaire associee a FLNA; EDS 5.. [+] CVD1; Dystrophie valvulaire associee a FLNA; EDS 5; Ehlers-Danlos syndrome, type 5; Filamin A-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; FLNA-related X-linked myxomatous valvular dysplasia; XMVD; [-]	A heart valve disease characterized by multivalvul..[+] A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. [-]
X-linked central diabetes insipidus	X-linked neurohypophyseal diabetes insipidus;	A central diabetes insipidus that has_material_bas..[+] A central diabetes insipidus that has_material_basis_in X-linked inheritance. [-]
X-linked cerebellar ataxia		A hereditary ataxia characterized by X-linked inhe..[+] A hereditary ataxia characterized by X-linked inheritance. [-]
X-linked chondrodysplasia punctata 1	chondrodystrophia calcificans congenita;	A chondrodysplasia punctata that is characterized ..[+] A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. [-]
X-linked chondrodysplasia punctata 2	Conradi-Hunermann Syndrome; Happle syndrome;	A chondrodysplasia puncata that has_material_basis..[+] A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. [-]
X-linked chronic granulomatous disease	CDGX; X-linked chronic cytochrome b-negative granu.. [+] CDGX; X-linked chronic cytochrome b-negative granulomatous disease; [-]	A chronic granulomatous disease characterized by X..[+] A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. [-]
X-linked chronic idiopathic intestinal pseudo-obstruction		An intestinal pseudo-obstruction that has_material..[+] An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. [-]
X-linked cleft palate with or without ankyloglossia	X-linked cleft palate and ankyloglossia;	A cleft palate that has_material_basis_in mutation..[+] A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. [-]
X-linked cone-rod dystrophy 1	COD1; CORDX1; X-linked cone dystrophy 1;	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. [-]
X-linked cone-rod dystrophy 2	COD2; CORDX2; X-linked cone dystrophy 2;	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. [-]
X-linked cone-rod dystrophy 3	CORDX3;	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. [-]
X-linked congenital bilateral absence of vas deferens	CBAVDX;	A congenital bilateral absence of vas deferens tha..[+] A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. [-]
X-linked congenital hemolytic anemia		A congenital hemolytic anemia characterized by mil..[+] A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1. [-]
X-linked congenital myopathy with fiber-type disproportion	CFTDX;	A congenital fiber-type disproportion characterize..[+] A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. [-]
X-linked deafness 1	DFN2; DFNX1; X-linked sensorineural congenital dea.. [+] DFN2; DFNX1; X-linked sensorineural congenital deafness 2; [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. [-]
X-linked deafness 2	conductive deafness 3 with stapes fixation; conduc.. [+] conductive deafness 3 with stapes fixation; conductive deafness with stapes fixation; DFN3; DFNX2; Nance deafness; X-linked deafness type 2; X-linked mixed conductive and neurosensory deafness; X-linked mixed conductive and neurosensory hearing loss; X-linked mixed conductive and sensorineural deafness; X-linked mixed conductive and sensorineural hearing loss; X-linked stapes gusher syndrome; mixed deafness with perilymphatic gusher; X-linked sensorineural deafness; [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. [-]
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 exudative vitreoretinopathy 2	EVR2; EVRX; FEVRX;	An exudative vitreoretinopathy that has_material_b..[+] An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. [-]
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 hypoparathyroidism	agenesis of parathyroid glands; HYPX;	A hypoparathyroidism that has_material_basis_in mu..[+] A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. [-]
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 immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia	XMEN;	A T cell deficiency that is characterized by CD4 l..[+] A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). [-]
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. [-]

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