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Disease	Synonyms	Description
hereditary spastic paraplegia 16	X-linked spastic paraplegia 16; X-linked spastic p.. [+] X-linked spastic paraplegia 16; X-linked spastic paraplegia type 16; SPG16 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2. [-]
hereditary spastic paraplegia 2	X-linked spastic paraplegia 2; spastic paraplegia .. [+] X-linked spastic paraplegia 2; spastic paraplegia type 2; SPG2 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. [-]
hereditary spastic paraplegia 34	X-linked spastic paraplegia type 34; X-linked spas.. [+] X-linked spastic paraplegia type 34; X-linked spastic paraplegia 34; SPG34 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25. [-]
glycogen storage disease IXd	X-linked muscke glycogenosis; glycogen storage dis.. [+] X-linked muscke glycogenosis; glycogen storage disease due to muscle phosphorylase kinase deficiency; glycogen storage disease type 9D; glycogen storage disease type IXd; glycogenosis due to muscle phosphorylase kinase deficiency; glycogenosis type 9D; glycogenosis type IXd; glycogenosis type IXe; GSD IXd; GSD type 9D; GSD type 9E; GSD type IXe; muscle phosphorylase kinase deficiency; glycogen storage disease type 9E; glycogen storage disease type IXe; glycogenosis type 9E; GSD due to muscle phosphorylase kinase deficiency; GSD type IXd; GSD9D [-]	A glycogen storage disease IX that is characterize..[+] A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. [-]
IGSF1 deficiency syndrome	X-linked central congenital hypothyroidism with la.. [+] X-linked central congenital hypothyroidism with late-onset testicular enlargement; X-linked central congenital hypothyroidism with late-onset macroorchidism; CHTE; central hypothyroidism and testicular enlargement [-]	A syndrome characterized by hypothyroidism that is..[+] A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. [-]
centronuclear myopathy X-linked	X-linked myotubular myopathy; XLCNM; XLMTM; CNMX; .. [+] XLMTM; XLCNM; X-linked myotubular myopathy; CNMX; MTM1; myotubular myopathy 1 [-]	A centronuclear myopathy that has_material_basis_i..[+] A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. [-]
pentosuria	xylitol dehydrogenase deficiency; essential pentos.. [+] xylitol dehydrogenase deficiency; essential pentosuria; L-xylulose reductase deficiency; L-xylulosuria; PNTSU [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. [-]
occipital horn syndrome	X-linked cutis laxa; EDS IX; Ehlers-Danlos syndrom.. [+] X-linked cutis laxa; EDS IX; Ehlers-Danlos syndrome type IX; Ehlers-Danlos syndrome type 9 [-]	A metal metabolism disorder characterized by hyper..[+] A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. [-]
dehydrated hereditary stomatocytosis 2	xerocytosis Gardos; desiccytosis Gardos	A dehydrated hereditary stomatocytosis that has_ma..[+] A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31. [-]
ectodermal dysplasia 1	XHED; XLHED; X-linked anhidrotic ectodermal dyspla.. [+] XLHED; XHED; X-linked anhidrotic ectodermal dysplasia; CST syndrome; ectodermal dysplasia 1, anhidrotic; ED1; HED1; hypohidrotic ectodermal dysplasia, X-Linked; Christ-Siemens-Touraine syndrome; ectodermal dysplasia 1, hypohidrotic, X-linked; ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked [-]	A hypohidrotic ectodermal dysplasia that has_mater..[+] A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. [-]
46,XX sex reversal	XX, male syndrome; 46,XX testicular disorder of se.. [+] XX, male syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; De la Chapelle syndrome; SRXX [-]	A gonadal dysgenesis characterized by presentation..[+] A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. [-]
congenital nystagmus 1	X-linked infantile nystagmus 1; congenital motor n.. [+] X-linked infantile nystagmus 1; congenital motor nystagmus 1; NYS1 [-]	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. [-]
congenital nystagmus 6	X-linked congenital nystagmus 6; NYS6	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. [-]
congenital nystagmus 5	X-linked congenital nystagmus 5; NYS5	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. [-]
syndromic microphthalmia 13	X-linked colobomatous microphthalmia-microcephaly-.. [+] X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome; colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation; MCOPS13; Maine microphthalmos [-]	A syndromic microphthalmia characterized by colobo..[+] A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. [-]
Basilicata-Akhtar syndrome	X-linked syndromic mental retardation Basilicata-A.. [+] X-linked syndromic mental retardation Basilicata-Akhtar type; X-linked syndromic mental retardation 36; MRXS36 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. [-]
Van Esch-O'Driscoll syndrome	X-linked syndromic mental retardation Van Esch-O'D.. [+] X-linked syndromic mental retardation Van Esch-O'Driscoll type; X-linked intellectual disability, Van Esch type; MRXSVEOD; VEODS [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. [-]
Mullegama-Klein-Martinez syndrome	X-linked neurodevelopmental disorder with craniofa.. [+] X-linked neurodevelopmental disorder with craniofacial abnormalities; MKMS; NEDXCF [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. [-]
primary ciliary dyskinesia 36	X-linked primary ciliary dyskinesia 36; CILD36	A primary ciliary dyskinesia characterized by abse..[+] A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. [-]
CK syndrome	X-linked intellectual disability-microcephaly-cort.. [+] X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome [-]	A lipid metabolism disorder characterized by incre..[+] A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. [-]
immunodeficiency 34	X-linked MSMD due to CYBB deficiency; X-linked men.. [+] X-linked MSMD due to CYBB deficiency; X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; AMCBX2; familial atypical mycobacteriosis X-linked 2; IMD34; immunodeficiency 34, mycobacteriosis, X-linked [-]	A phagocyte bactericidal dysfunction characterized..[+] A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. [-]
immunodeficiency 50	X-linked Moesin-associated immunodeficiency; CID d.. [+] X-linked Moesin-associated immunodeficiency; CID due to Moesin deficiency; combined immunodeficiency due to Moesin deficiency; IMD50; immunodeficiency 50 X linked recessive; MSN-related combined immunodeficiency [-]	A combined immunodeficiency characterized by profo..[+] A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. [-]
immunodeficiency 33	X-linked mendelian susceptibility to mycobacterial.. [+] X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency; X-linked MSMD due to NEMO deficiency; X-linked MSMD due to IKBKG deficiency; X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency; IMD33 [-]	A combined immunodeficiency characterized by early..[+] A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. [-]
growth hormone secreting pituitary adenoma 2	X-linked acromegaly; acromegaly due to pituitary a.. [+] X-linked acromegaly; acromegaly due to pituitary adenoma 2; GH-secreting pituitary adenoma 2; PITA2 [-]	A growth hormone secreting pituitary adenoma chara..[+] A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. [-]
non-syndromic X-linked intellectual disability 2	X-linked mental retardation 2; X-linked mental ret.. [+] X-linked mental retardation 2; X-linked mental retardation 2; MRX2 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. [-]
non-syndromic X-linked intellectual disability 104	X-linked mental retardation 104; MRX104	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. [-]
non-syndromic X-linked intellectual disability 19	X-linked mental retardation 19; MRX19	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. [-]
non-syndromic X-linked intellectual disability 103	X-linked mental retardation 103; MRX103	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. [-]
non-syndromic X-linked intellectual disability ARX-related	X-linked mental retardation 54; X-linked mental re.. [+] X-linked mental retardation 54; X-linked mental retardation with or without seizures ARX-related; X-linked mental retardation 87; X-linked mental retardation 76; X-linked mental retardation 52; X-linked mental retardation 43; X-linked mental retardation 38; X-linked mental retardation 33; X-linked mental retardation 32; X-linked mental retardation 29 and others; X-linked mental retardation 29; ARX-related intellectual disability; MRXARX [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. [-]
non-syndromic X-linked intellectual disability 21	X-linked mental retardation 34; X-linked mental re.. [+] X-linked mental retardation 34; X-linked mental retardation 21/34; X-linked mental retardation 21; MRX21; MRX34 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. [-]
non-syndromic X-linked intellectual disability 58	X-linked mental retardation 58; MRX58	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. [-]
female-restricted syndromic X-linked intellectual disability 99	X-linked female restricted facial dysmorphism-shor.. [+] X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability; female-restricted syndromic X-linked mental retardation 99; MRXS99F [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. [-]
non-syndromic X-linked intellectual disability 99	X-linked mental retardation 99; MRX99	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. [-]
non-syndromic X-linked intellectual disability 14	X-linked mental retardation 14; MRX14	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. [-]
non-syndromic X-linked intellectual disability 50	X-linked mental retardation 50; MRX50	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. [-]
non-syndromic X-linked intellectual disability 84	X-linked mental retardation 84; MRX84	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. [-]
non-syndromic X-linked intellectual disability 92	X-linked mental retardation 92; MRX92	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. [-]
non-syndromic X-linked intellectual disability 9	X-linked mental retardation 9; X-linked mental ret.. [+] X-linked mental retardation 9; X-linked mental retardation 44; MRX44; MRX9 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. [-]
non-syndromic X-linked intellectual disability 105	X-linked mental retardation 105; MRX105	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. [-]
chromosome Xp11.22 duplication syndrome	Xp11.22 microduplication syndrome; X-linked mental.. [+] Xp11.22 microduplication syndrome; X-linked mental retardation 31; X-linked mental retardation 17; MRX17; MRX31 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. [-]
non-syndromic X-linked intellectual disability 1	X-linked mental retardation 78; X-linked mental re.. [+] X-linked mental retardation 78; X-linked mental retardation 18; X-linked mental retardation 1/78; X-linked mental retardation 1; MRX1; MRX18; MRX78 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. [-]
non-syndromic X-linked intellectual disability 77	X-linked mental retardation 77; MRX77	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. [-]
non-syndromic X-linked intellectual disability 100	X-linked mental retardation 100; MRX100	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. [-]
non-syndromic X-linked intellectual disability 90	X-linked mental retardation 90; MRX90	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1. [-]
Tonne-Kalscheuer syndrome	X-linked mental retardation 61; intellectual devel.. [+] X-linked mental retardation 61; intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia; MRX61; TOKAS [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. [-]
non-syndromic X-linked intellectual disability 91	X-linked mental retardation 91; MRX91	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. [-]
non-syndromic X-linked intellectual disability 93	X-linked mental retardation with macrocephaly; X-l.. [+] X-linked mental retardation with macrocephaly; X-linked mental retardation 93; MRX93 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. [-]
non-syndromic X-linked intellectual disability 97	X-linked mental retardation 97; X-linked mental re.. [+] X-linked mental retardation 97; X-linked mental retardation 65; MRX65; MRX97; MRXZ [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. [-]
non-syndromic X-linked intellectual disability 53	X-linked mental retardation 53; MRX53	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. [-]
non-syndromic X-linked intellectual disability 101	X-linked mental retardation 101; MRX101	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. [-]

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