Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 ???pagination.result.next???

Disease	Synonyms	Description
maturity-onset diabetes of the young type 4	MODY4; MODY type 4	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. [-]
maturity-onset diabetes of the young type 6	MODY6; MODY type 6	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. [-]
maturity-onset diabetes of the young type 8	MODY type 8; MODY8; maturity-onset diabetes of the.. [+] MODY8; MODY type 8; maturity-onset diabetes of the young type 8 with exocrine dysfunction; diabetes and pancreatic exocrine [-]	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. [-]
maturity-onset diabetes of the young type 7	MODY7	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. [-]
maturity-onset diabetes of the young type 9	MODY9	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. [-]
maturity-onset diabetes of the young type 10	MODY10	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. [-]
maturity-onset diabetes of the young type 11	MODY11	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. [-]
maturity-onset diabetes of the young type 13	MODY13; MODY type 13	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. [-]
maturity-onset diabetes of the young type 14	MODY14	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. [-]
mitochondrial complex III deficiency		A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. [-]
mitochondrial complex V (ATP synthase) deficiency		A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. [-]
multicentric Castleman disease	multicentric giant lymph node hyperplasia; MCD; pl.. [+] MCD; multicentric giant lymph node hyperplasia; plasmablastic multicentric Castleman disease; PMCD [-]	A Castleman disease characterized by systemic infl..[+] A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. [-]
molybdenum cofactor deficiency type B	molybdenum cofactor deficiency complementation gro.. [+] molybdenum cofactor deficiency complementation group B; MOCODB; MOCOD type B; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B [-]	A molybdenum cofactor deficiency that has_material..[+] A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. [-]
molybdenum cofactor deficiency type A	molybdenum cofactor deficiency complementation gro.. [+] molybdenum cofactor deficiency complementation group A; MOCODA; MOCOD type A; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A [-]	A molybdenum cofactor deficiency that has_material..[+] A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. [-]
molybdenum cofactor deficiency	MOCOD; combined deficiency of sulfite oxidase, xan.. [+] MOCOD; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase [-]	A metal metabolism disease characterized by enceph..[+] A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. [-]
molybdenum cofactor deficiency type C	MOCOD type C; molybdenum cofactor deficiency compl.. [+] MOCOD type C; molybdenum cofactor deficiency complementation group C; MOCODC; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C [-]	A molybdenum cofactor deficiency that has_material..[+] A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. [-]
myofibrillar myopathy 9	Myofibrillar myopathy-titinopathy; myofibrillar my.. [+] Myofibrillar myopathy-titinopathy; myofibrillar myopathy 9 with early respiratory failure; MPRM; MFM9; MFM-titinopathy; autosomal dominant distal myopathy with early respiratory failure; Edstrom myopathy; Hereditary inclusion body myopathy with early respiratory failure; hereditary myopathy with early respiratory failure; HIBM-ERF; HMERF; proximal myopathy with early respiratory muscle involvement [-]	A myofibrillar myopathy characterized by adult ons..[+] A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. [-]
McKusick-Kaufman syndrome	MKKS; HMCS; hydrometrocolpos, postaxial polydactyl.. [+] MKKS; HMCS; hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; hydrometrocolpos-postaxial polydactyly syndrome; hydrometrocolpos syndrome; Kaufman McKusick syndrome [-]	A syndrome characterized by neonatal onset of geni..[+] A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. [-]
mitochondrial trifunctional protein deficiency	MTPD; TFP deficiency; TFPD	A lipid metabolism disorder characterized by abnor..[+] A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. [-]
myopathy with extrapyramidal signs	MPXPS; proximal myopathy with extrapyramidal signs.. [+] MPXPS; proximal myopathy with extrapyramidal signs [-]	A myopathy characterized by early childhood onset ..[+] A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. [-]
myeloproliferative disorder with eosinophilia	chronic myeloproliferative disorder with eosinophi.. [+] chronic myeloproliferative disorder with eosinophilia [-]	A myeloproliferative neoplasm characterized by chr..[+] A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. [-]
multiple epiphyseal dysplasia with myopia and deafness	multiple epiphyseal dysplasia-myopia-deafness synd.. [+] multiple epiphyseal dysplasia-myopia-deafness syndrome; multiple epiphyseal dysplasia, Beighton type; EDMMD [-]	A syndrome characterized by typically mild epiphys..[+] A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]
mucopolysaccharidosis Ih/s	MPS1H/S; MPSIH/S; Mucopolysaccharidosis type 1H/S; .. [+] Mucopolysaccharidosis type 1H/S; MPSIH/S; MPS1H/S [-]	A mucopolysaccharidosis I characterized by an inte..[+] A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. [-]
mucopolysaccharidosis Ih	MPS1-H; Mucopolysaccharidosis type I severe form; .. [+] Mucopolysaccharidosis type I severe form; MPS1-H; gargoylism; Hurler disease MPS type 1H; Hurler-Pfaundler syndrome; L-iduronidase deficiency, Hurler type; dysostosis multiplex; Dysostosis multiplex syndrome [-]	A mucopolysaccharidosis I characterized by a sever..[+] A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. [-]
mucopolysaccharidosis IVA	Morquio syndrome A; MPS IVA; MPS4A; Morquio A dise.. [+] MPS4A; MPS IVA; Morquio syndrome A; Morquio A disease; GALNS deficiency [-]	A mucopolysaccharidosis IV characterized by intrac..[+] A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. [-]
mucopolysaccharidosis type IVB	MPS4B; mucopolysaccharidosis type IVB (Morquio); M.. [+] mucopolysaccharidosis type IVB (Morquio); MPS4B; MPS IVB; Morquio syndrome B; Morquio disease type B; beta-D-galactosidase deficiency [-]	A mucopolysaccharidosis IV characterized by skelet..[+] A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. [-]
mucopolysaccharidosis type IIIC	mucopolysaccharidosis type IIIC (Sanfilippo C); Mu.. [+] mucopolysaccharidosis type IIIC (Sanfilippo C); Mucopolysaccharidosis type 3C; MPSIIIC; MPS3C; Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; Heparan-alpha-glucosaminide N-acetyltransferase deficiency; HGSNAT deficiency; Sanfilippo syndrome type C [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. [-]
mucopolysaccharidosis type IIIB	Mucopoly-saccharidosis type 3B; mucopolysaccharido.. [+] Mucopoly-saccharidosis type 3B; mucopolysaccharidosis type IIIB (Sanfilippo B); Mucopolysaccharidosis type 3B; MPSIIIB; MPS3B; N-acetyl-alpha-glucosaminidase deficiency; Sanfilippo syndrome type B; NAGLU deficiency [-]	A mucopolysaccharidosis III characterized by neuro..[+] A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. [-]
mucopolysaccharidosis type IIIA	mucopolysaccharidosis type 3A; mucopolysaccharidos.. [+] mucopolysaccharidosis type 3A; mucopolysaccharidosis type IIIA (Sanfilippo A); mucopolysaccharidosis III-A; MPSIIIA; MPS3A; Sanfilippo syndrome type A; heparan sulfamidase deficiency [-]	A mucopolysaccharidosis III characterized by sever..[+] A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. [-]
mucopolysaccharidosis type IIID	MPS IIID; Mucopolysaccharidosis type 3D; MPS3D; GN.. [+] MPS3D; Mucopolysaccharidosis type 3D; MPS IIID; GNS deficiency; N-acetylglucosamine-6-sulfatase deficiency; Sanfilippo syndrome D; Sanfilippo syndrome type D [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. [-]
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	MCCCHCM	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. [-]
Marshall syndrome	MRSHS; deafness, myopia, cataract, saddle nose-Mar.. [+] MRSHS; deafness, myopia, cataract, saddle nose-Marshall type [-]	An ectodermal dysplasia characterized by hypoplasi..[+] An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. [-]
melanoma and neural system tumor syndrome	melanoma-astrocytoma syndrome	A syndrome characterized by predisposition to cuta..[+] A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. [-]
metachondromatosis	METCDS	An osteochondrodysplasia characterized by the pres..[+] An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. [-]
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome	metaphyseal dysplasia with maxillary hypoplasia wi.. [+] metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly; metaphyseal dysplasia maxillary hypoplasia brachydactyly [-]	An osteochondrodysplasia characterized by metaphys..[+] An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. [-]
metatropic dysplasia	metatropic dwarfism	A spondyloepimetaphyseal dysplasia characterized b..[+] A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
Mullerian aplasia and hyperandrogenism	Mullerian duct failure and hyperandrogenism; WNT4 .. [+] Mullerian duct failure and hyperandrogenism; WNT4 deficiency [-]	A disorder of sexual development characterized by ..[+] A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. [-]
multicentric carpotarsal osteolysis syndrome	multicentric osteolysis nephropathy; multicentric .. [+] multicentric osteolysis nephropathy; multicentric carpo-tarsal osteolysis with or without nephropathy; MCTO; autosomal dominant multicentric osteolysis; hereditary osteolysis of carpal bones with or without nephropathy; idiopathic multicentric osteolysis with or without nephropathy [-]	A syndrome characterized by progressive loss of bo..[+] A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. [-]
Martsolf syndrome	cataract-intellectual disability-hypogonadism synd.. [+] cataract-intellectual disability-hypogonadism syndrome [-]	A syndrome characterized by intellectual deficit, ..[+] A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. [-]
Mulchandani-Bhoj-Conlin syndrome	maternal UPD(20); MBCS; maternal uniparental disom.. [+] MBCS; maternal UPD(20); maternal uniparental disomy of chromosome 20; UPD(20)mat [-]	A syndrome characterized by prenatal growth restri..[+] A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. [-]
mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1	MC5DM1	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 6	MC5DN6	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. [-]
mitochondrial nonsyndromic sensorineural deafness		MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI.; A se..[+] A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. [-]
Melnick-Needles syndrome	Melnick-Needles osteodysplasty; MNS; osteodysplast.. [+] MNS; Melnick-Needles osteodysplasty; osteodysplasty of Melnick and Needles [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. [-]
methylmalonic acidemia and homocysteinemia cblX type	methylmalonic aciduria with homocystinuria, type c.. [+] methylmalonic aciduria with homocystinuria, type cblX; mental retardation, X-linked 3; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX [-]	A methylmalonic acidemia characterized by onset in..[+] A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. [-]
Mullegama-Klein-Martinez syndrome	MKMS; X-linked neurodevelopmental disorder with cr.. [+] MKMS; X-linked neurodevelopmental disorder with craniofacial abnormalities; 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. [-]
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	MFHIEN	A syndrome characterized by midface hypoplasia, he..[+] A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. [-]
Meester-Loeys syndrome	MRLS	A syndrome characterized by early-onset aortic ane..[+] A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. [-]
MEND syndrome	male EBP disorder with neurological defects	A lipid metabolism disorder characterized by a def..[+] A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. [-]
MLS syndrome	linear skin defects with multiple congenital anoma.. [+] linear skin defects with multiple congenital anomalies [-]	A syndrome characterized by linear skin defects an..[+] A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. [-]

???pagination.result.page??? ???pagination.result.prev??? 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 ???pagination.result.next???