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Disease	Synonyms	Description	Articles	Phenotypes
Turner syndrome	XO syndrome; Gonadal dysgenesis - Turner; Karyotyp.. [+] XO syndrome; Gonadal dysgenesis - Turner; Karyotype 45, X; Monosomy X; monosomy X syndrome; Bonnevie-Ullrich syndrome [-]	A gonadal dysgenesis that is characterized by shor..[+] A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. [-]	1 articles
juvenile xanthogranuloma	Xanthoma neviforme; Multiple eruptive juvenile xan.. [+] Xanthoma neviforme; Multiple eruptive juvenile xanthogranuloma; Naevoxanthoendothelioma [-]	A non-Langerhans-cell histiocytosis is characteriz..[+] A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk. [-]
malignant inflammatory fibrous histiocytoma	Xanthosarcoma; inflammatory MFH	n_a
adrenoleukodystrophy	X-linked adrenoleukodystrophy; ALD; diffuse sclero.. [+] X-linked adrenoleukodystrophy; ALD; diffuse sclerosis; Encephalitis periaxialis concentrica; Schilder disease; SUDANOPHILIC CEREBRAL SCLEROSIS; diffuse cerebral sclerosis of Schilder; Siemerling-Creutzfeldt Disease; Bronze Schilder disease; Schilder's disease; sudanophilic cerebral sclerosis; Encephalitis periaxialis, Schilder's [-]	A leukodystrophy that disrupts the breakdown of ve..[+] A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. [-]
Sjogren's syndrome	xerodermosteosis; Sicca syndrome; Sjogren syndrome.. [+] xerodermosteosis; Sicca syndrome; Sjogren syndrome [-]	An autoimmune disease that involves attack of immu..[+] An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. [-]
Wolman disease	Xanthomatosis, familial; Acid lipase deficiency; W.. [+] Xanthomatosis, familial; Acid lipase deficiency; Wolman xanthomatosis; Wolman's disease; Wolman's or triglyceride storage type III disease; Acid esterase deficiency [-]	n_a
Partington syndrome	X-linked Russell-Silver syndrome	A syndrome characterized by intellectual disabilit..[+] A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. [-]
lidocaine allergy	xylocaine allergy; lignocaine allergy; Lidoderm al.. [+] xylocaine allergy; lignocaine allergy; Lidoderm allergy [-]	A drug allergy that has_allergic_trigger lidocaine..[+] A drug allergy that has_allergic_trigger lidocaine. [-]
Armfield syndrome	X-linked intellectual disability, Armfield type; A.. [+] X-linked intellectual disability, Armfield type; Armfield X-linked mental retardation syndrome; mental retardation syndrome, X-linked, Armfield type; MRXSA; syndromic X-linked mental retardation Armfield type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. [-]
Ogden syndrome	X-linked Malformation and Infantile Lethality Synd.. [+] X-linked Malformation and Infantile Lethality Syndrome; N-alpha-acetyltransferase; N-terminal acetyltransferase deficiency; OGDNS [-]	A syndrome characterized by postnatal growth failu..[+] A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. [-]
Ehlers-Danlos syndrome spondylodysplastic type 2	xylosylprotein 4-beta-galactosyltransferase defici.. [+] xylosylprotein 4-beta-galactosyltransferase deficiency; XGPT deficiency; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; defective biosynthesis of proteodermatan sulfate; Ehlers-Danlos syndrome progeroid type [-]	An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. [-]
CD40 ligand deficiency	X-linked hyper-IgM syndrome; HIGMX-1	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. [-]
sideroblastic anemia 1	X-linked sideroblastic anemia; X-linked sideroblas.. [+] X-linked sideroblastic anemia; X-linked sideroblastic anaemia; XLSA; sideroblastic anaemia 1 [-]	A sideoblastic anemia that is characterized by the..[+] A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. [-]
Kennedy's disease	X-linked Spinal and Bulbar Muscular Atrophy; X-Lin.. [+] X-linked Spinal and Bulbar Muscular Atrophy; X-Linked Bulbo-Spinal Atrophy; Kennedy disease; SBMA; spinal bulbar muscular atrophy; Spinobulbar Muscular Atrophy [-]	A spinal muscular dystrophy that has_material_basi..[+] A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. [-]	1 articles
Renpenning syndrome	X-linked mental retardation with spastic diplegia; .. [+] X-linked mental retardation with spastic diplegia; X-linked mental retardation Renpenning type; X-linked intellectual disability, Renpenning type; X-linked intellectual disability due to PQBP1 mutations; Sutherland-Haan X-linked mental retardation syndrome; syndromic X-linked mental retardation 8; Golabi-Ito-Hall syndrome [-]	An intellectual disability that is characterized b..[+] An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. [-]	1 articles	18 matches
MASA syndrome	X-linked corpus callosum agenesis; X-linked spasti.. [+] X-linked corpus callosum agenesis; X-linked spastic paraplegia 1; X-linked complicated hereditary spastic paraplegia type 1; hereditary spastic paraplegia 1; L1 syndrome; SPG1; Gareis-Mason syndrome; CRASH syndrome [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. [-]
Simpson-Golabi-Behmel syndrome type 1	X-linked dysplasia gigantism syndrome; DGSX Golabi.. [+] X-linked dysplasia gigantism syndrome; DGSX Golabi-Rosen syndrome; Sara Angers syndrome; Simpson dysmorphia syndrome; bulldog syndrome; SGB syndrome; Golabi-Rosen syndrome [-]	A syndrome characterized by pre- and postnatal ove..[+] A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. [-]
chromosome Xp21 deletion syndrome	Xp21 microdeletion syndrome; monosomy Xp21; comple.. [+] Xp21 microdeletion syndrome; monosomy Xp21; complex glycerol kinase deficiency [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. [-]
syndromic X-linked intellectual disability Lubs type	X-linked intellectual disability-hypotonia-recurre.. [+] X-linked intellectual disability-hypotonia-recurrent Infections syndrome; Lubs X-linked mental retardation syndrome; MECP2 duplication syndrome; mental retardation, X-linked, syndromic, Lubs type; mental retardation, X-linked, with recurrent respiratory infections; MRXSL [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. [-]
syndromic X-linked intellectual disability 5	X-linked intellectual disability-Dandy-Walker malf.. [+] X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome; X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures; X-linked mental retardation 59; MRX59; MRXS21; Pettigrew syndrome; syndromic X-linked mental retardation 21; syndromic X-linked mental retardation Fried type; Mental retardation, X-linked syndromic 5; Fried syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. [-]
MEHMO syndrome	X-linked intellectual disability-epileptic seizure.. [+] X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome; mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MRXS20; MRXS25; syndromic X-linked mental retardation 25; syndromic X-linked mental retardation 20 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1. [-]
syndromic X-linked intellectual disability 17	X-linked mental retardation with alacrima and acha.. [+] X-linked mental retardation with alacrima and achalasia; mental retardation, X-linked, syndromic 17; intellectual disability-alacrima-achalasia syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. [-]
syndromic X-linked intellectual disability 12	X-linked intellectual disability, Wilson type; men.. [+] X-linked intellectual disability, Wilson type; mental retardation, X-linked, syndromic 12 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. [-]
Prieto syndrome	X-linked intellectual disability-dysmorphism-cereb.. [+] X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome; Prieto-Badia-Mulas syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21. [-]
syndromic X-linked intellectual disability Hedera type	X-linked mental retardation with epilepsy; mental .. [+] X-linked mental retardation with epilepsy; mental retardation, X-linked, syndromic, Hedera type; MRXE; MRXSH [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. [-]
syndromic X-linked intellectual disability Najm type	X-linked intellectual disability-microcephaly-pont.. [+] X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; mental retardation and microcephaly with pontine and cerebellar hypoplasia; MICPCH [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. [-]
syndromic X-linked intellectual disability 7	X-linked intellectual disability, Ahmad type; MRXS.. [+] X-linked intellectual disability, Ahmad type; MRXS7; mental retardation, X-linked syndromic 7 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. [-]
syndromic X-linked intellectual disability type 10	X-linked intellectual disability-choreoathetosis-a.. [+] X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome; HSD10 deficiency, atypical type; HSD10 disease, atypical type; mental retardation, X-linked syndromic 10; MRXS10 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. [-]
syndromic X-linked intellectual disability Turner type	X-linked intellectual disability, Brooks type; men.. [+] X-linked intellectual disability, Brooks type; mental retardation and macrocephaly syndrome; mental retardation, X-linked syndromic, Turner type; MRXST; Brooks-Wisniewski-Brown syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. [-]
Wilson-Turner syndrome	X-linked intellectual disability-gynecomastia-obes.. [+] X-linked intellectual disability-gynecomastia-obesity syndrome; mental retardation, X-linked, syndromic 6; mental retardation, X-linked, with gynecomastia and obesity; WTS; MRXS6 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. [-]
Miles-Carpenter syndrome	X-linked intellectual disability, Miles-Carpenter .. [+] X-linked intellectual disability, Miles-Carpenter type; mental retardation, X-linked, syndromic 4; MRXS4; MCS; mental retardation, X-linked, with congenital contractures and low fingertip arches [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. [-]
syndromic X-linked intellectual disability Chudley-Schwartz type	X-linked mental retardation with seizures, hypogam.. [+] X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance; mental retardation, X-linked, syndromic, Chudley-Schwartz type; MRXSCS [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. [-]
syndromic X-linked intellectual disability Nascimento type	X-linked intellectual disability-nail dystrophy-se.. [+] X-linked intellectual disability-nail dystrophy-seizures syndrome; mental retardation, X-linked syndromic, Nascimento-type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. [-]
syndromic X-linked intellectual disability Cabezas type	X-linked mental retardation with short stature; X-.. [+] X-linked mental retardation with short stature; X-linked mental retardation with short stature, hypogonadism, and abnormal gait; mental retardation, X-linked, syndromic 15 (Cabezas type); MRSS; MRXS15; MRXSC; Cabezas syndrome; syndromic X-linked mental retardation 15; mental retardation, X-linked, syndromic 15 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. [-]
syndromic X-linked intellectual disability Raymond type	X-linked syndromic intellectual developmental diso.. [+] X-linked syndromic intellectual developmental disorder Raymond type; mental retardation, X-linked syndromic, Raymond type; MRXSR [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. [-]
Christianson syndrome	X-linked intellectual disability, South African ty.. [+] X-linked intellectual disability, South African type; X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome; X-linked Angelman-like syndrome; mental retardation, X-linked syndromic, Christianson type; MRXSCH; mental retardation, microcephaly, epilepsy, and ataxia syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. [-]
syndromic X-linked intellectual disability Shashi type	X-linked mental retardation Shashi type; mental re.. [+] X-linked mental retardation Shashi type; mental retardation, X-linked, syndromic 11, Shashi type; MRXS11; SMRXS; syndromic X-linked intellectual disability type 11; Shashi X-linked mental retardation syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. [-]
isolated growth hormone deficiency type III	X-linked hypogammaglobulinemia and isolated growth.. [+] X-linked hypogammaglobulinemia and isolated growth hormone deficiency; X-linked isolated growth hormone deficiency; X-linked IGHD; X-linked agammaglobulinemia and isolated growth hormone deficiency; congenital isolated GH deficiency type III; congenital isolated growth hormone deficiency type III; growth hormone deficiency with hypogammaglobulinemia; IGHD III; congenital IGHD type III; Fleisher syndrome [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. [-]
non-syndromic X-linked intellectual developmental disorder 111	XLID111	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. [-]
non-syndromic X-linked intellectual disability 106	X-linked mental retardation 106; MRX106	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. [-]
developmental and epileptic encephalopathy 2	X-linked infantile spasm syndrome 2; DEE2; EIEE2; .. [+] X-linked infantile spasm syndrome 2; DEE2; EIEE2; early infantile epileptic encephalopathy 2 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. [-]
TFE3-rearranged renal cell carcinoma	Xp11 Translocation Renal Cell Carcinoma; Renal Cel.. [+] Xp11 Translocation Renal Cell Carcinoma; Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions [-]	A renal cell carcinoma with MiT translocations tha..[+] A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. [-]
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	XLAAD; XPID; X-linked autoimmunity-allergic dysreg.. [+] XPID; XLAAD; X-linked autoimmunity-allergic dysregulation syndrome; autoimmunity-immunodeficiency syndrome, X-linked; Autoimmune enteropathy type 1; diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked; DMSD; IDDM-secretory diarrhea syndrome; immunodeficiency, polyendocrinopathy, and enteropathy, X-linked; immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked; IPEX; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea [-]	A hypersensitivity reaction type II disease charac..[+] A hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in mutation in the FOXP3 gene on chromosome Xp11. [-]
amelogenesis imperfecta type 1E	X-linked amelogenesis imperfecta hypoplastic/hypom.. [+] X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1; X-linked enamel hypoplasia; 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. [-]	1 articles
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; optic atrophy, polyneuropathy, and deafness; CMTX5; 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; CMTX4; Cowchock syndrome; NADMR; NAMSD; CMT4X; COWCK [-]	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. [-]

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