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

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