Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Loeys-Dietz syndrome |
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A syndrome that is characterized by increased risk..[+]
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1 articles | |
Loeys-Dietz syndrome 1 |
AAT5; familial throacic aortic aneurysm 5; Furlong..
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A Loeys-Dietz syndrome that has_material_basis_in ..[+]
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Loeys-Dietz syndrome 2 |
AAT3; familial throacic aortic aneurysm 3; LDS2; M..
[+]
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A Loeys-Dietz syndrome that has_material_basis_in ..[+]
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Loeys-Dietz syndrome 3 |
aneurysms-osteoarthritis syndrome; LDS1C; LDS3; Lo..
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A Loeys-Dietz syndrome that has_material_basis_in ..[+]
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Loeys-Dietz syndrome 4 |
Aneurysm, aortic and cerebral, with arterial tortu..
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A Loeys-Dietz syndrome that has_material_basis_in ..[+]
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Loeys-Dietz syndrome 5 |
LDS5; Reinhoff syndrome; RNHF;
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A Loeys-Dietz syndrome that has_material_basis_in ..[+]
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Loeys-Dietz syndrome 6 |
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A Loeys-Dietz syndrome characterized by aortic/art..[+]
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Lown-Ganong-Levine syndrome |
atrial tachyarrhythmia with short PR interval; syn..
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A syndrome that involves pre-excitation of the ven..[+]
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Ludwig's angina |
cellulitis of floor of mouth; Ludwig angina;
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n_a
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Luo-Schoch-Yamamoto syndrome |
LUSYAM;
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A autosomal dominant intellectual developmental di..[+]
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Lutembacher's syndrome |
Lutembacher's anomaly; Lutembacher syndrome;
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n_a
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Lyme disease |
Bannwarth syndrome (disorder); Bannworth's syndrom..
[+]
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A primary bacterial infectious disease that result..[+]
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1 articles | |
Lynch syndrome |
Hereditary Defective Mismatch Repair syndrome; her..
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A syndrome that is characterized by an increased r..[+]
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Lynch syndrome 1 |
familial nonpolyposis colon cancer type 1; FCC1; h..
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A Lynch syndrome that has_material_basis_in hetero..[+]
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MASA syndrome |
hereditary spastic paraplegia 1; L1 syndrome; SPG1..
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A hereditary spastic paraplegia that is characteri..[+]
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MCD diffuse large B-cell lymphoma |
MCD DLBCL;
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A diffuse large B-cell lymphoma that is categorize..[+]
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MEDNIK syndrome |
erythrokeratodermia variabilis 3; mental retardati..
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A syndrome characterized by mental retardation, en..[+]
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MEHMO syndrome |
mental retardation, epileptic seizures, hypogonadi..
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A syndromic X-linked intellectual disability chara..[+]
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MELAS syndrome |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACI..
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A mitochondrial encephalomyopathy that is characte..[+]
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2 articles | |
MEND syndrome |
male EBP disorder with neurological defects;
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A lipid metabolism disorder characterized by a def..[+]
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MERRF syndrome |
Fukuhara syndrome (disorder); Myoclonic epilepsy -..
[+]
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n_a
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1 articles | |
MHC class I deficiency |
bare lymphocyte syndrome type I; BLS, TYPE I; BLSI..
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A severe combined immunodeficiency that is charact..[+]
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MHC class II deficiency |
bare lymphocyte syndrome type II; SCID due to abse..
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A severe combined immunodeficiency that is charact..[+]
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MLS syndrome |
linear skin defects with multiple congenital anoma..
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A syndrome characterized by linear skin defects an..[+]
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MYH-9 related disease |
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A blood platelet disease that has_material_basis_i..[+]
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Machado-Joseph disease |
Azorean disease; MJD; spinocerebellar ataxia 3; sp..
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An autosomal dominant cerebellar ataxia that is ch..[+]
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Maffucci syndrome |
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A syndrome characterized by the presence of multip..[+]
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Mahvash Disease |
GCGR-related hyperglucagonemia; nesidioblastosis, ..
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An endocrine pancreas disease characterized by pan..[+]
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Marburg hemorrhagic fever |
Marburg virus disease; Marburg disease;
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A viral infectious disease that is a hemorrhagic f..[+]
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Marfan syndrome |
Marfan's syndrome;
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A connective tissue disease that is characterized ..[+]
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3 articles | |
Marinesco-Sjogren syndrome |
Garland-Moorhouse syndrome; Marinesco-Garland synd..
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A syndrome characterized by congenital cataracts, ..[+]
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Marshall syndrome |
deafness, myopia, cataract, saddle nose-Marshall t..
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An ectodermal dysplasia characterized by hypoplasi..[+]
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Marshall-Smith syndrome |
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A syndrome that is characterized by advanced bone ..[+]
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Marsili syndrome |
congenital analgesia; congenital insensitivity to ..
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A syndrome that is characterized by a lowered abil..[+]
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Martsolf syndrome |
cataract-intellectual disability-hypogonadism synd..
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A syndrome characterized by intellectual deficit, ..[+]
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Mast syndrome |
autosomal recessive spastic paraplegia 21; heredit..
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A hereditary spastic paraplegia associated with de..[+]
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Masters-Allen syndrome |
Broad ligament laceration syndrome;
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A female reproductive system disease that is chara..[+]
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Mayer-Rokitansky-Kuster-Hauser syndrome |
MRKH syndrome; Rokitansky syndrome;
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A syndrome characterized by aplasia of the uterus ..[+]
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Mayer-Rokitansky-Kuster-Hauser syndrome type 1 |
congenital absence of uterus and vagina; MRKH synd..
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A Mayer-Rokitansky-Kuster-Hauser syndrome characte..[+]
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Mayer-Rokitansky-Kuster-Hauser syndrome type 2 |
atypical MRKH syndrome; MRKH syndrome type 2; mull..
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A Mayer-Rokitansky-Kuster-Hauser syndrome characte..[+]
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McCune Albright syndrome |
fibrous Dysplasia of bone; fibrous dysplasia of bo..
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A syndrome that is characterized by polyostotic fi..[+]
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McKusick-Kaufman syndrome |
HMCS; hydrometrocolpos, postaxial polydactyly, and..
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A syndrome characterized by neonatal onset of geni..[+]
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McLeod syndrome |
McLeod syndrome with or without chronic granulomat..
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A neuroacanthocytosis characterized by absence of ..[+]
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Meckel syndrome |
Meckel-Gruber syndrome;
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A ciliopathy that is characterized by renal cystic..[+]
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3 articles | |
Meckel syndrome 1 |
Meckel-Gruber syndrome, type 1; MKS1;
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A Meckel syndrome that has_material_basis_in an au..[+]
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Meckel syndrome 13 |
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A Meckel syndrome that has_material_basis_in homoz..[+]
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Meckel syndrome 2 |
Meckel-Gruber syndrome, type 2; MKS2;
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A Meckel syndrome that has_material_basis_in an au..[+]
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Meckel syndrome 3 |
Meckel-Gruber syndrome, type 3; MKS3;
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A Meckel syndrome that has_material_basis_in an au..[+]
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Meckel syndrome 4 |
Meckel-Gruber syndrome, type 4; MKS4;
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A Meckel syndrome that has_material_basis_in an au..[+]
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Meckel syndrome 5 |
Meckel-Gruber syndrome, type 5; MKS5;
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A Meckel syndrome that has_material_basis_in an au..[+]
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