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Disease	Synonyms	Description	Articles	Phenotypes
myotonic dystrophy type 2	proximal myotonic myopathy	A myotonic disease that is characterized by myoton..[+] A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. [-]	3 articles
midface dysplasia		n_a
mitochondrial complex V (ATP synthase) deficiency nuclear type 1	MC5DN1	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. [-]
Meckel syndrome	Meckel-Gruber syndrome	A ciliopathy that is characterized by renal cystic..[+] A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. [-]	3 articles
multiple cutaneous and mucosal venous malformations	mucocutaneous venous malformations; VMCM; cutaneom.. [+] mucocutaneous venous malformations; VMCM; cutaneomucosal venous malformation [-]	A vein disease that is characterized by multiple b..[+] A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. [-]
multiple synostoses syndrome		A dysostosis that is characterized by characterize..[+] A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. [-]
mucopolysaccharidosis IX		A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. [-]
multifocal dystonia		A dystonia that involves two or more unrelated bod..[+] A dystonia that involves two or more unrelated body parts. [-]	1 articles
Muckle-Wells syndrome	MWS; neutrophilic urticaria	A syndrome characterized by episodic skin rash, ar..[+] A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. [-]
Marshall-Smith syndrome		A syndrome that is characterized by advanced bone ..[+] A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. [-]
medulloblastoma	Medulloblastoma, histologically defined; CNS PNET; .. [+] Medulloblastoma, histologically defined; CNS PNET; infratentorial primitive neuroectodermal tumor; localized primitive neuroectodermal tumor; brain medulloblastoma; CPNET [-]	An infratentorial cancer that is located_in the lo..[+] An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. [-]	1 articles	6 matches
mixed extragonadal germ cell cancer		A mixed germ cell cancer that is located_in areas ..[+] A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. [-]
myelodysplastic syndrome		A bone marrow cancer that is characterized by unde..[+] A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. [-]
mucosal melanoma		A melanoma that has_material_basis_in melanocytes ..[+] A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. [-]
MHC class I deficiency	bare lymphocyte syndrome type I; BLS, TYPE I; BLSI.. [+] bare lymphocyte syndrome type I; BLS, TYPE I; BLSI; HLA CLASS I DEFICIENCY [-]	n_a
Munchausen by proxy		A factitious disorder that involves a care giver's..[+] A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. [-]
male reproductive organ benign neoplasm		n_a
musculoskeletal system benign neoplasm		An organ system benign neoplasm that is located_in..[+] An organ system benign neoplasm that is located_in the muscular and skeletal organs. [-]
musculoskeletal system cancer	skeletal system cancer	An organ system cancer located_in the muscular and..[+] An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. [-]	8 articles	8 matches
mu chain disease		A heavy chain disease that results from an overpro..[+] A heavy chain disease that results from an overproduction of mu antibody (IgM). [-]
mirror agnosia		An agnosia that is a loss of the ability to acknow..[+] An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. [-]
microscopic colitis		A colitis that can only be diagnosed_by the examin..[+] A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. [-]
Maffucci syndrome		A syndrome characterized by the presence of multip..[+] A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. [-]
Mast syndrome	autosomal recessive spastic paraplegia 21; heredit.. [+] autosomal recessive spastic paraplegia 21; hereditary spastic paraplegia 21; SPG21; autosomal recessive spastic paraplegia type 21 [-]	A hereditary spastic paraplegia associated with de..[+] A hereditary spastic paraplegia associated with dementia. [-]
MASA syndrome	hereditary spastic paraplegia 1; L1 syndrome; SPG1.. [+] hereditary spastic paraplegia 1; L1 syndrome; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked spastic paraplegia 1; Gareis-Mason syndrome; X-linked corpus callosum agenesis; 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. [-]
megalocornea	anterior megalophthalmos; congenital anterior mega.. [+] anterior megalophthalmos; congenital anterior megalophthalmia [-]	A corneal disease that is characterized by a bilat..[+] A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. [-]	1 articles
Meier-Gorlin syndrome	ear-patella-short stature syndrome	A syndrome that is characterized by bilateral unde..[+] A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. [-]
mastoiditis		A middle ear disease characterized by an inflammat..[+] A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. [-]
myelomeningocele		A spina bifida characterized by protrusion of the ..[+] A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. [-]	1 articles
mitochondrial complex V (ATP synthase) deficiency nuclear type 2	MC5DN2; neonatal mitochondrial encephalocardiomyop.. [+] MC5DN2; neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency [-]	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 3	MC5DN3	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 4	MC5DN4	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. [-]
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	microcephaly, lymphedema, chorioretinal dysplasia .. [+] microcephaly, lymphedema, chorioretinal dysplasia syndrome; microcephaly lymphedema chorioretinal dysplasia; chorioretinal dysplasia-microcephaly-mental retardation syndrome; lymphedema and retinal folds with ficrocephaly and microphthalmos; lymphedema, microcephaly and chorioretinopathy syndrome [-]	A syndrome characterized by variable expression of..[+] A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. [-]
mitochondrial complex III deficiency nuclear type 2	MC3DN2	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. [-]
multiple acyl-CoA dehydrogenase deficiency	MAD deficiency; MADD; electron transfer flavoprote.. [+] MADD; MAD deficiency; electron transfer flavoprotein deficiency; glutaric acidemia type 2; electron transfer flavoprotein ubiquinone oxidoreductase deficiency; glutaric aciduria type 2 [-]	An inherited metabolic disorder characterized by t..[+] An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. [-]
mandibulofacial dysostosis with alopecia	MFDA	A syndrome characterized_by malar and mandibular h..[+] A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. [-]
Meesmann corneal dystrophy	MECD; juvenile hereditary epithelial dystrophy; St.. [+] MECD; juvenile hereditary epithelial dystrophy; Stocker-Holt dystrophy [-]	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. [-]
Miller-Dieker lissencephaly syndrome	Miller-Dieker syndrome; MDS	A syndrome characterized by classical lissencephal..[+] A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. [-]	1 articles
myoclonic-atonic epilepsy	EEOC; childhood onset epileptic encephalopathy	An idiopathic generalized epilepsy characterized b..[+] An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. [-]	4 articles
MEDNIK syndrome	mental retardation, enteropathy, deafness, neuropa.. [+] mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia; erythrokeratodermia variabilis 3; erythrokeratodermia variabilis, Kamouraska type [-]	A syndrome characterized by mental retardation, en..[+] A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. [-]
Mowat-Wilson syndrome	microcephaly, mental retardation, and distinct fac.. [+] microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease; Hirschsprung disease mental retardation syndrome [-]	A syndrome characterized by distinctive facial fea..[+] A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. [-]
metal allergy		An allergic disease that is triggered by a metal.
melon allergy	Cucumis melo fruit allergy	A fruit allergy triggered by Cucumis melo plant fr..[+] A fruit allergy triggered by Cucumis melo plant fruit food product. [-]
mollusc allergy		A shellfish allergy triggered by Mollusca.
mitochondrial complex I deficiency	isolated mitochondrial respiratory chain complex I.. [+] isolated mitochondrial respiratory chain complex I deficiency; isolated NADH-coenzyme Q reductase deficiency; isolated NADH-CoQ reductase deficiency; isolated NADH-ubiquinone reductase deficiency [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. [-]
mitochondrial complex II deficiency	isolated mitochondrial respiratory chain complex I.. [+] isolated mitochondrial respiratory chain complex II deficiency; isolated succinate-ubiquinone reductase deficiency; isolated succinate-coenzyme Q reductase deficiency; isolated succinate-CoQ reductase deficiency [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. [-]
microcephalic osteodysplastic primordial dwarfism type I	brachymelic primordial dwarfism; cephaloskeletal d.. [+] brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; osteodysplastic primordial dwarfism type I; Taybi-Linder syndrome [-]	A microcephalic osteodysplastic primordial dwarfis..[+] A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. [-]	1 articles
microcephalic osteodysplastic primordial dwarfism type II	Majewski osteodysplastic primordial dwarfism type .. [+] Majewski osteodysplastic primordial dwarfism type II; osteodysplastic primordial dwarfism type II [-]	A microcephalic osteodysplastic primordial dwarfis..[+] A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. [-]	2 articles
megacystis-microcolon-intestinal hypoperistalsis syndrome	megacystis-microcolon-intestinal hypoperistalsis s.. [+] megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH; Megacystis microcolon intestinal hypoperistalsis syndrome; visceral myopathy; Berdon syndrome [-]	A syndrome that is characterized by marked dilatat..[+] A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. [-]
MYH-9 related disease		A blood platelet disease that has_material_basis_i..[+] A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. [-]

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