Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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myoclonic dystonia 11 |
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A myoclonic dystonia characterized by autosomal do..[+]
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myoclonic dystonia 15 |
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A myoclonic dystonia that is characterized by jerk..[+]
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myoclonic dystonia 26 |
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A myoclonic dystonia characterized by autosomal do..[+]
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megaconial type congenital muscular dystrophy |
megaconial congenital muscular dystrophy; congenit..
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A congenital muscular dystrophy characterized by a..[+]
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muscular dystrophy-dystroglycanopathy type B5 |
muscular dystrophy-dystroglycanopathy (congenital ..
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A congenital muscular dystrophy characterized by a..[+]
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muscular dystrophy-dystroglycanopathy type B6 |
muscular dystrophy-dystroglycanopathy (congenital ..
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A congenital muscular dystrophy characterized by a..[+]
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Mononen-Karnes-Senac syndrome |
Mononen type brachydactyly; short and abducted thu..
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A brachydactyly characterized by short, abducted t..[+]
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myostatin-related muscle hypertrophy |
MSLHP
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A muscle tissue disease characterized by increased..[+]
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maturity-onset diabetes of the young type 1 |
A maturity-onset diabetes of the young that has_ma..[+]
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maturity-onset diabetes of the young type 2 |
MODY2; MODY type 2; MODY glucokinase-related
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A maturity-onset diabetes of the young that has_ma..[+]
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maturity-onset diabetes of the young type 5 |
MODY5; atypical familial juvenile hyperuricemic ne..
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A maturity-onset diabetes of the young characteriz..[+]
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maturity-onset diabetes of the young type 3 |
MODY3; MODY type 3
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A maturity-onset diabetes of the young that has_ma..[+]
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maturity-onset diabetes of the young type 4 |
MODY4; MODY type 4
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A maturity-onset diabetes of the young that has_ma..[+]
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maturity-onset diabetes of the young type 6 |
MODY6; MODY type 6
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A maturity-onset diabetes of the young that has_ma..[+]
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maturity-onset diabetes of the young type 8 |
A maturity-onset diabetes of the young that has_ma..[+]
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maturity-onset diabetes of the young type 7 |
MODY7
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A maturity-onset diabetes of the young that has_ma..[+]
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maturity-onset diabetes of the young type 9 |
MODY9
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A maturity-onset diabetes of the young that has_ma..[+]
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maturity-onset diabetes of the young type 10 |
MODY10
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A maturity-onset diabetes of the young that has_ma..[+]
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maturity-onset diabetes of the young type 11 |
MODY11
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A maturity-onset diabetes of the young that has_ma..[+]
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maturity-onset diabetes of the young type 13 |
MODY13; MODY type 13
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A maturity-onset diabetes of the young that has_ma..[+]
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maturity-onset diabetes of the young type 14 |
MODY14
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A maturity-onset diabetes of the young that has_ma..[+]
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mitochondrial complex III deficiency |
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A mitochondrial metabolism disease characterized b..[+]
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mitochondrial complex V (ATP synthase) deficiency |
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A mitochondrial metabolism disease characterized b..[+]
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multicentric Castleman disease |
A Castleman disease characterized by systemic infl..[+]
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molybdenum cofactor deficiency type B |
molybdenum cofactor deficiency complementation gro..
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A molybdenum cofactor deficiency that has_material..[+]
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molybdenum cofactor deficiency type A |
molybdenum cofactor deficiency complementation gro..
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A molybdenum cofactor deficiency that has_material..[+]
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molybdenum cofactor deficiency |
MOCOD; combined deficiency of sulfite oxidase, xan..
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A metal metabolism disease characterized by enceph..[+]
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molybdenum cofactor deficiency type C |
molybdenum cofactor deficiency complementation gro..
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A molybdenum cofactor deficiency that has_material..[+]
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myopathy, lactic acidosis, and sideroblastic anemia 2 |
MLASA2
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A myopathy, lactic acidosis, and sideroblastic ane..[+]
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myopathy with extrapyramidal signs |
MPXPS; proximal myopathy with extrapyramidal signs..
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A myopathy characterized by early childhood onset ..[+]
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mucopolysaccharidosis IVA |
A mucopolysaccharidosis IV characterized by intrac..[+]
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mucopolysaccharidosis type IIIC |
A mucopolysaccharidosis III that has_material_basi..[+]
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mucopolysaccharidosis type IIID |
A mucopolysaccharidosis III that has_material_basi..[+]
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Marshall syndrome |
MRSHS; deafness, myopia, cataract, saddle nose-Mar..
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An ectodermal dysplasia characterized by hypoplasi..[+]
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metatropic dysplasia |
metatropic dwarfism
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A spondyloepimetaphyseal dysplasia characterized b..[+]
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multicentric carpotarsal osteolysis syndrome |
A syndrome characterized by progressive loss of bo..[+]
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Mulchandani-Bhoj-Conlin syndrome |
A syndrome characterized by prenatal growth restri..[+]
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mitochondrial nonsyndromic sensorineural deafness |
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MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI.; A se..[+]
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Mullegama-Klein-Martinez syndrome |
MKMS; NEDXCF; X-linked neurodevelopmental disorder..
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A syndromic X-linked intellectual disability chara..[+]
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midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
MFHIEN
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A syndrome characterized by midface hypoplasia, he..[+]
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mitochondrial type mitochondrial complex I deficiency |
MC1DM
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A mitochondrial complex I deficiency that has_mate..[+]
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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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muscular dystrophy-dystroglycanopathy type B15 |
MDDGB15; congenital muscular dystrophy DPM3-relate..
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A muscular dystrophy-dystroglycanopathy type B tha..[+]
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muscular dystrophy-dystroglycanopathy type B4 |
MDDGB4; congenital muscular dystrophy FKTN-related..
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A muscular dystrophy-dystroglycanopathy type B cha..[+]
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muscular dystrophy-dystroglycanopathy type B2 |
MDDGB2; congenital muscular dystrophy POMT2-relate..
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A muscular dystrophy-dystroglycanopathy type B tha..[+]
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pericardium cancer |
n_a
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heart cancer |
A cardiovascular cancer located_in the heart.
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vaginal cancer |
A female reproductive system cancer that is locate..[+]
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female reproductive organ cancer |
A reproductive organ cancer that is manifested in ..[+]
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vaginal carcinosarcoma |
malignant vaginal mixed epithelial and mesenchymal..
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n_a
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