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Disease	Synonyms	Description
X-linked thrombocytopenia with beta-thalassemia	XLTT; beta-thalassemia-X-linked thrombocytopenia s.. [+] XLTT; beta-thalassemia-X-linked thrombocytopenia syndrome; GATA1-related X-linked cytopenia; thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [-]	A hematopoietic system disease characterized by va..[+] A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. [-]
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 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 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 congenital neutropenia	XLN; SCNX	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 spondyloepimetaphyseal dysplasia	SEMD X-linked; SEMDX	A spondyloepimetaphyseal dysplasia that has_materi..[+] A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. [-]
spinal accessory nerve neoplasm	XIth Cranial nerve tumors; neoplasm of accessory n.. [+] XIth Cranial nerve tumors; neoplasm of accessory nerve (disorder) [-]	n_a
combined T cell and B cell immunodeficiency	X-linked combined immunodeficiency; combined immun.. [+] X-linked combined immunodeficiency; combined immunodeficiency; Congenital Combined Immunodeficiency [-]	A primary immunodeficiency disease that involves m..[+] A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity. [-]
Lesch-Nyhan syndrome	X-linked hyperuricemia (disorder) [Ambiguous]; Com.. [+] X-linked hyperuricemia (disorder) [Ambiguous]; Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; deficiency of IMP pyrophosphorylase; HG-PRT deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder); Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]; Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]); Lesch - Nyhan syndrome; Lesch-Nyhan syndrome (disorder) [-]	n_a
Klinefelter's syndrome	XXY syndrome; XXY trisomy; Hypogonadotropic Hypogo.. [+] XXY trisomy; XXY syndrome; Hypogonadotropic Hypogonadism; Klinefelter syndrome [-]	n_a
Turner syndrome	XO syndrome; Bonnevie-Ullrich syndrome; Gonadal dy.. [+] XO syndrome; Bonnevie-Ullrich syndrome; Gonadal dysgenesis - Turner; Karyotype 45, X; Monosomy X; monosomy X syndrome [-]	n_a
juvenile xanthogranuloma	Xanthoma neviforme; Multiple eruptive juvenile xan.. [+] Xanthoma neviforme; Multiple eruptive juvenile xanthogranuloma; Naevoxanthoendothelioma [-]	n_a
inflammatory MFH	Xanthosarcoma	n_a
adrenoleukodystrophy	X-linked adrenoleukodystrophy; ALD; Bronze Schilde.. [+] X-linked adrenoleukodystrophy; ALD; Bronze Schilder disease; diffuse cerebral sclerosis of Schilder; diffuse sclerosis; Encephalitis periaxialis concentrica; Encephalitis periaxialis, Schilder's; Schilder disease; Schilder's disease; Siemerling-Creutzfeldt Disease; SUDANOPHILIC CEREBRAL SCLEROSIS [-]	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. [-]
Bruton-type agammaglobulinemia	X-linked agammaglobulinemia (disorder); Bruton aga.. [+] X-linked agammaglobulinemia (disorder); Bruton agammaglobulinemia tyrosine kinase deficiency; Bruton's agammaglobulinaemia; Bruton's Sex-Linked Agammaglobulinemia; Bruton's type agammaglobulinemia; BTK deficiency [-]	A B cell deficiency that is that has material basi..[+] A B cell deficiency 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. [-]
Wolman disease	Xanthomatosis, familial; Acid esterase deficiency; .. [+] Xanthomatosis, familial; Acid esterase deficiency; Acid lipase deficiency; Wolman xanthomatosis; Wolman's disease; Wolman's or triglyceride storage type III disease [-]	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; Lidoderm allergy; lignocaine al.. [+] xylocaine allergy; Lidoderm allergy; lignocaine 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 [-]	An X-linked disease resulting from a deficiency in..[+] An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. [-]
Ehlers-Danlos syndrome spondylodysplastic type 2	xylosylprotein 4-beta-galactosyltransferase defici.. [+] xylosylprotein 4-beta-galactosyltransferase deficiency; XGPT deficiency; defective biosynthesis of proteodermatan sulfate; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; 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. [-]
gamma chain deficiency	X-Linked Severe Combined Immunodeficiency; XSCID; .. [+] XSCID; X-Linked Severe Combined Immunodeficiency; SCID-X1; thymic epithelial hypoplasia [-]	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. [-]
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. [-]
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; Golabi-Ito-Hall syndrome; Sutherland-Haan X-linked mental retardation syndrome; syndromic X-linked mental retardation 8 [-]	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. [-]
MASA syndrome	X-linked spastic paraplegia 1; X-linked corpus cal.. [+] X-linked spastic paraplegia 1; X-linked corpus callosum agenesis; X-linked complicated hereditary spastic paraplegia type 1; CRASH syndrome; Gareis-Mason syndrome; hereditary spastic paraplegia 1; L1 syndrome; SPG1 [-]	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; bulldog syn.. [+] X-linked dysplasia gigantism syndrome; bulldog syndrome; DGSX Golabi-Rosen syndrome; Golabi-Rosen syndrome; Sara Angers syndrome; SGB syndrome; Simpson dysmorphia 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; complex glycerol kina.. [+] Xp21 microdeletion syndrome; complex glycerol kinase deficiency; monosomy Xp21 [-]	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 metal retardation with Dandy-Walker malfo.. [+] X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures; X-linked mental retardation 59; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome; Fried syndrome; Mental retardation, X-linked syndromic 5; MRX59; MRXS21; Pettigrew syndrome; syndromic X-linked mental retardation 21; syndromic X-linked mental retardation Fried type [-]	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 20; syndromic X-linked mental retardation 25 [-]	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; intellectual disability-alacrima-achalasia syndrome; mental retardation, X-linked, syndromic 17 [-]	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; ment.. [+] X-linked intellectual disability, Ahmad type; mental retardation, X-linked syndromic 7; MRXS7 [-]	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. [-]
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; MRXS6; WTS [-]	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; MCS; mental retardation, X-linked, syndromic 4; mental retardation, X-linked, with congenital contractures and low fingertip arches; MRXS4 [-]	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, hy.. [+] X-linked mental retardation with short stature, hypogonadism, and abnormal gait; X-linked mental retardation with short stature; Cabezas syndrome; syndromic X-linked mental retardation 15; mental retardation, X-linked, syndromic 15 (Cabezas type); MRSS; MRXS15; MRXSC [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal 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. [-]
Christianson syndrome	X-linked intellectual disability-craniofacial dysm.. [+] X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome; X-linked intellectual disability, South African type; X-linked Angelman-like syndrome; mental retardation, microcephaly, epilepsy, and ataxia syndrome; mental retardation, X-linked syndromic, Christianson type; MRXSCH [-]	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; Shashi X-linked mental retardation syndrome; SMRXS; syndromic X-linked intellectual disability type 11 [-]	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. [-]
Brooks-Wisniewski-Brown syndrome	X-linked intellectual disability, Brooks type	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome. [-]
isolated growth hormone deficiency type III	X-linked isolated growth hormone deficiency; X-lin.. [+] X-linked isolated growth hormone deficiency; X-linked IGHD; X-linked hypogammaglobulinemia and isolated growth hormone deficiency; X-linked agammaglobulinemia and isolated growth hormone deficiency; congenital IGHD type III; congenital isolated GH deficiency type III; congenital isolated growth hormone deficiency type III; Fleisher syndrome; growth hormone deficiency with hypogammaglobulinemia; IGHD III [-]	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. [-]
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; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea; 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 [-]	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. [-]

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