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Disease	Synonyms	Description	Articles
Loeys-Dietz syndrome 4	Aneurysm, aortic and cerebral, with arterial tortu.. [+] Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations; LDS4; [-]	A Loeys-Dietz syndrome that has_material_basis_in ..[+] A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. [-]
Loeys-Dietz syndrome 5	LDS5; Reinhoff syndrome; RNHF;	A Loeys-Dietz syndrome that has_material_basis_in ..[+] A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. [-]
Loeys-Dietz syndrome 6		A Loeys-Dietz syndrome characterized by aortic/art..[+] A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. [-]
Lown-Ganong-Levine syndrome	atrial tachyarrhythmia with short PR interval; syn.. [+] atrial tachyarrhythmia with short PR interval; syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias; [-]	A syndrome that involves pre-excitation of the ven..[+] A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. [-]
Ludwig's angina	cellulitis of floor of mouth; Ludwig angina;	n_a
Luo-Schoch-Yamamoto syndrome	LUSYAM;	A autosomal dominant intellectual developmental di..[+] A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. [-]
Lutembacher's syndrome	Lutembacher's anomaly; Lutembacher syndrome;	n_a
Lyme disease	Bannwarth syndrome (disorder); Bannworth's syndrom.. [+] Bannwarth syndrome (disorder); Bannworth's syndrome; Lyme borreliosis; lyme neuroborreliosis; Neurological Lyme disease; neuroborreliosis; Bannwarth syndrome; [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. [-]	1 articles
Lynch syndrome	Hereditary Defective Mismatch Repair syndrome; her.. [+] Hereditary Defective Mismatch Repair syndrome; hereditary nonpolyposis colorectal cancer; HNPCC - hereditary nonpolyposis colon cancer; hereditary non-polyposis colon cancer type 1; COCA 1; hereditary nonpolyposis colorectal neoplasm; Hereditary non-polyposis colon cancer; Hereditary non-polyposis colon cancer syndrome; Hereditary non-polyposis colorectal cancer; Hereditary non-polyposis colorectal cancer syndrome; Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis colon cancer syndrome; Hereditary nonpolyposis colorectal cancer syndrome; [-]	A syndrome that is characterized by an increased r..[+] A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. [-]
Lynch syndrome 1	familial nonpolyposis colon cancer type 1; FCC1; h.. [+] familial nonpolyposis colon cancer type 1; FCC1; hereditary nonpolyposis colorectal cancer type 1; HNPCC1; [-]	A Lynch syndrome that has_material_basis_in hetero..[+] A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. [-]
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. [-]
MCD diffuse large B-cell lymphoma	MCD DLBCL;	A diffuse large B-cell lymphoma that is categorize..[+] A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. [-]
MEDNIK syndrome	erythrokeratodermia variabilis 3; mental retardati.. [+] erythrokeratodermia variabilis 3; mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia; 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. [-]
MEHMO syndrome	mental retardation, epileptic seizures, hypogonadi.. [+] mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MRXS20; MRXS25; syndromic X-linked mental retardation 25; syndromic X-linked mental retardation 20; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome; [-]	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 hemizygous mutation in the EIF2S3 gene on chromosome Xp22. [-]
MELAS syndrome	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACI.. [+] MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; [-]	A mitochondrial encephalomyopathy that is characte..[+] A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. [-]	2 articles
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. [-]
MERRF syndrome	Fukuhara syndrome (disorder); Myoclonic epilepsy -.. [+] Fukuhara syndrome (disorder); Myoclonic epilepsy - ragged red fibers (disorder); Myoclonus epilepsy AND ragged red fibers (disorder); Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome); Fukuhara syndrome; Myoclonus epilepsy AND ragged red fibers; Myoclonic epilepsy - ragged red fibers; Myoclonus with epilepsy and with Ragged Red Fibers; [-]	n_a	1 articles
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; [-]	A severe combined immunodeficiency that is charact..[+] A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. [-]
MHC class II deficiency	bare lymphocyte syndrome type II; SCID due to abse.. [+] bare lymphocyte syndrome type II; SCID due to absent class II HLA antigens (disorder); BLSII; SCID due to absent class II HLA antigens; [-]	A severe combined immunodeficiency that is charact..[+] A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes. [-]
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. [-]
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. [-]
Machado-Joseph disease	Azorean disease; MJD; spinocerebellar ataxia 3; sp.. [+] Azorean disease; MJD; spinocerebellar ataxia 3; spinocerebellar ataxia type 3; SCA3; [-]	An autosomal dominant cerebellar ataxia that is ch..[+] An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. [-]
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. [-]
Mahvash Disease	GCGR-related hyperglucagonemia; nesidioblastosis, .. [+] GCGR-related hyperglucagonemia; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor; [-]	An endocrine pancreas disease characterized by pan..[+] An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. [-]
Marburg hemorrhagic fever	Marburg virus disease; Marburg disease;	A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthomarburgvirus marburgense, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. [-]
Marfan syndrome	Marfan's syndrome;	A connective tissue disease that is characterized ..[+] A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. [-]	3 articles
Marinesco-Sjogren syndrome	Garland-Moorhouse syndrome; Marinesco-Garland synd.. [+] Garland-Moorhouse syndrome; Marinesco-Garland syndrome; hereditary oligophrenic cerebello-lental degeneration; Oligophrenic cerebellolenticular degeneration; [-]	A syndrome characterized by congenital cataracts, ..[+] A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. [-]
Marshall syndrome	deafness, myopia, cataract, saddle nose-Marshall t.. [+] deafness, myopia, cataract, saddle nose-Marshall type; MRSHS; [-]	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. [-]
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. [-]
Marsili syndrome	congenital analgesia; congenital insensitivity to .. [+] congenital analgesia; congenital insensitivity to pain; [-]	A syndrome that is characterized by a lowered abil..[+] A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. [-]
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. [-]
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. [-]
Masters-Allen syndrome	Broad ligament laceration syndrome;	A female reproductive system disease that is chara..[+] A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery. [-]
Mayer-Rokitansky-Kuster-Hauser syndrome	MRKH syndrome; Rokitansky syndrome;	A syndrome characterized by aplasia of the uterus ..[+] A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. [-]
Mayer-Rokitansky-Kuster-Hauser syndrome type 1	congenital absence of uterus and vagina; MRKH synd.. [+] congenital absence of uterus and vagina; MRKH syndrome type 1; Rokitansky sequence; [-]	A Mayer-Rokitansky-Kuster-Hauser syndrome characte..[+] A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. [-]
Mayer-Rokitansky-Kuster-Hauser syndrome type 2	atypical MRKH syndrome; MRKH syndrome type 2; mull.. [+] atypical MRKH syndrome; MRKH syndrome type 2; mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia; mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; MURCS; MURCS association; [-]	A Mayer-Rokitansky-Kuster-Hauser syndrome characte..[+] A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. [-]
McCune Albright syndrome	fibrous Dysplasia of bone; fibrous dysplasia of bo.. [+] fibrous Dysplasia of bone; fibrous dysplasia of bone (disorder); osteitis fibrosa disseminata; fibrous dysplasia of bone; polyostotic fibrous dysplasia; [-]	A syndrome that is characterized by polyostotic fi..[+] A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. [-]
McKusick-Kaufman syndrome	HMCS; hydrometrocolpos, postaxial polydactyly, and.. [+] HMCS; hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; hydrometrocolpos-postaxial polydactyly syndrome; hydrometrocolpos syndrome; MKKS; 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. [-]
McLeod syndrome	McLeod syndrome with or without chronic granulomat.. [+] McLeod syndrome with or without chronic granulomatous disease; McLeod type neuroacanthocytosis; X-linked McLeod syndrome; MLS; McLeod neuroacanthocytosis syndrome; [-]	A neuroacanthocytosis characterized by absence of ..[+] A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. [-]
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
Meckel syndrome 1	Meckel-Gruber syndrome, type 1; MKS1;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. [-]
Meckel syndrome 13		A Meckel syndrome that has_material_basis_in homoz..[+] A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. [-]
Meckel syndrome 2	Meckel-Gruber syndrome, type 2; MKS2;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. [-]
Meckel syndrome 3	Meckel-Gruber syndrome, type 3; MKS3;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. [-]
Meckel syndrome 4	Meckel-Gruber syndrome, type 4; MKS4;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. [-]
Meckel syndrome 5	Meckel-Gruber syndrome, type 5; MKS5;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. [-]
Meckel syndrome 6	Meckel-Gruber syndrome, type 6; MKS6;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. [-]	1 articles
Meckel syndrome 7	MKS7; Meckel-Gruber syndrome, type 7;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. [-]
Meckel syndrome 8	Meckel-Gruber syndrome, type 8; MKS8;	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. [-]
Meckel's diverticulitis	Meckel diverticulitis; Meckel's diverticulitis (di.. [+] Meckel diverticulitis; Meckel's diverticulitis (disorder); [-]	A diverticulits characterized by the inflammation ..[+] A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. [-]

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