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Disease	Synonyms	Description
amelogenesis imperfecta type 1E	X-linked enamel hypoplasia; X-linked amelogenesis .. [+] X-linked enamel hypoplasia; X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1; X-linked amelogenesis imperfecta 1; AIH1; amelogenesis imperfecta hypomaturationtype with snow-capped teeth; amelogenesis imperfecta type IE [-]	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in mutation in the gene encoding amelogenin (AMELX). [-]
Charcot-Marie-Tooth disease X-linked dominant 6	X-linked Charcot-Marie-Tooth disease type 6; Charc.. [+] X-linked Charcot-Marie-Tooth disease type 6; Charcot-Marie-Tooth neuropathy X-linked dominant 6; CMT6X; CMTX6 [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. [-]
Charcot-Marie-Tooth disease X-linked recessive 2	X-linked Charcot-Marie-Tooth disease type 2; Charc.. [+] X-linked Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth neuropathy X-linked recessive 2; CMTX2 [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2. [-]
Charcot-Marie-Tooth disease X-linked dominant 1	X-linked Charcot-Marie-Tooth disease type 1; Charc.. [+] X-linked Charcot-Marie-Tooth disease type 1; Charcot-Marie-Tooth neuropathy X-linked dominant 1; CMT1X; CMTX1 [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. [-]
Charcot-Marie-Tooth disease X-linked recessive 5	X-linked Charcot-Marie-Tooth disease type 5; Charc.. [+] X-linked Charcot-Marie-Tooth disease type 5; Charcot-Marie-Tooth neuropathy X-linked recessive 5; CMT5X; CMTX5; optic atrophy, polyneuropathy, and deafness; Rosenberg-Chutorian syndrome [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. [-]
Charcot-Marie-Tooth disease X-linked recessive 3	X-linked Charcot-Marie-Tooth disease type 3; Charc.. [+] X-linked Charcot-Marie-Tooth disease type 3; Charcot-Marie-Tooth neuropathy X-linked recessive 3; CMT3X; CMTX3 [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26. [-]
Charcot-Marie-Tooth disease X-linked recessive 4	X-linked Charcot-Marie-Tooth disease type 4; axona.. [+] X-linked Charcot-Marie-Tooth disease type 4; axonal motor sensory neuropathy with deafness and mental retardation; Charcot-Marie-Tooth disease with deafness and mental retardation; CMT4X; CMTX4; Cowchock syndrome; COWCK; NADMR; NAMSD [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. [-]
hereditary spastic paraplegia 16	X-linked spastic paraplegia type 16; X-linked spas.. [+] X-linked spastic paraplegia type 16; X-linked spastic paraplegia 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 9E; glycogen storage disease type IXd; glycogen storage disease type IXe; glycogenosis due to muscle phosphorylase kinase deficiency; glycogenosis type 9D; glycogenosis type 9E; glycogenosis type IXd; glycogenosis type IXe; GSD due to muscle phosphorylase kinase deficiency; GSD IXd; GSD type 9D; GSD type 9E; GSD type IXd; GSD type IXe; GSD9D; muscle phosphorylase kinase deficiency [-]	A glycogen storage disease IX characterized by X-l..[+] A glycogen storage disease IX 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; central hypothyroidism and testicular enlargement; CHTE [-]	An X-linked disease characterized by hypothyroidis..[+] An X-linked disease 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. [-]
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 9; Ehlers-Danlos syndrome type IX [-]	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. [-]
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. [-]
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. [-]
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 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 MSMD due to NEMO deficiency; X-linked MSM.. [+] X-linked MSMD due to NEMO deficiency; X-linked MSMD due to IKBKG deficiency; X-linked mendelian susceptibility to mycobacterial diseases due to NEMO 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. [-]
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 ARX-related	X-linked mental retardation with or without seizur.. [+] X-linked mental retardation with or without seizures ARX-related; X-linked mental retardation 87; X-linked mental retardation 76; X-linked mental retardation 54; 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 20	X-linked mental retardation 20; MRX20	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. [-]
non-syndromic X-linked intellectual disability 45	X-linked mental retardation 45; MRX45	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior 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 81	X-linked mental retardation 81; MRX81	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 Xp11.2-q12. [-]
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 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 98	X-linked mental retardation 98; MRX98	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. [-]
non-syndromic X-linked intellectual disability 30	X-linked mental retardation 47; X-linked mental re.. [+] X-linked mental retardation 47; X-linked mental retardation 30/47; X-linked mental retardation 30; MRX30; MRX47 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. [-]
non-syndromic X-linked intellectual disability 88	X-linked mental retardation 88; MRX88	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 mutation in a region on chromosome Xq24. [-]
non-syndromic X-linked intellectual disability 41	X-linked mental retardation 48; X-linked mental re.. [+] X-linked mental retardation 48; X-linked mental retardation 41; MRX41; MRX48 [-]	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 heterozygous mutation in the GDI1 gene on chromosome Xq28. [-]

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