Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
A methylmalonic acidemia characterized by accumula..[+]
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methylmalonic acidemia due to transcobalamin receptor defect |
methylmalonic aciduria due to transcobalamin recep..
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A methylmalonic acidemia characterized by autosoma..[+]
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methylmalonic acidemia cb1A type |
methylmalonic aciduria, vitamin B12-responsive due..
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A methylmalonic acidemia characterized by autosoma..[+]
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methylmalonic acidemia cblB type |
A methylmalonic acidemia characterized by autosoma..[+]
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microvillus inclusion disease |
MVD; congenital familial protracted diarrhea with ..
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A congenital diarrhea characterized by onset of in..[+]
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MEHMO syndrome |
A syndromic X-linked intellectual disability chara..[+]
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Miles-Carpenter syndrome |
A syndromic X-linked intellectual disability chara..[+]
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microphthalmia with limb anomalies |
MLA; anophthalmia-syndactyly syndrome; OAS; ophtha..
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A syndrome that is characterized by autosomal rece..[+]
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mal de Meleda |
Meleda disease; keratosis palmoplantaris transgred..
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A palmoplantar keratosis characterized by autosoma..[+]
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macrocephaly-autism syndrome |
macrocephaly-intellectual disability-autism syndro..
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An autosomal dominant disease characterized by mac..[+]
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myeloid neoplasm |
myeloma
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A bone marrow cancer that is formed of any one of ..[+]
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mental retardation, autosomal dominant 20 |
MRD20; autosomal dominant mental retardation 20
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An autosomal dominant non-syndromic intellectual d..[+]
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Meckel syndrome 1 |
MKS1; Meckel-Gruber syndrome, type 1
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A Meckel syndrome that has_material_basis_in an au..[+]
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Meckel syndrome 2 |
MKS2; Meckel-Gruber syndrome, type 2
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A Meckel syndrome that has_material_basis_in an au..[+]
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Meckel syndrome 3 |
MKS3; Meckel-Gruber syndrome, type 3
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A Meckel syndrome that has_material_basis_in an au..[+]
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Meckel syndrome 4 |
MKS4; Meckel-Gruber syndrome, type 4
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A Meckel syndrome that has_material_basis_in an au..[+]
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Meckel syndrome 5 |
MKS5; Meckel-Gruber syndrome, type 5
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A Meckel syndrome that has_material_basis_in an au..[+]
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Meckel syndrome 6 |
MKS6; Meckel-Gruber syndrome, type 6
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A Meckel syndrome that has_material_basis_in an au..[+]
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Meckel syndrome 7 |
MKS7; Meckel-Gruber syndrome, type 7
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A Meckel syndrome that has_material_basis_in an au..[+]
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Meckel syndrome 8 |
MKS8; Meckel-Gruber syndrome, type 8
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A Meckel syndrome that has_material_basis_in an au..[+]
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Miyoshi muscular dystrophy 3 |
MMD3; Miyoshi myopathy 3
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A Miyoshi muscular dystrophy that has_material_bas..[+]
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multiple epiphyseal dysplasia 5 |
multiple epiphyseal dysplasia MATN3-related; BHMED..
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A multiple epiphyseal dysplasia that has_material_..[+]
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multiple epiphyseal dysplasia 7 |
EDM7
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A multiple epiphyseal dysplasia that has_material_..[+]
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mitochondrial DNA depletion syndrome |
mtDNA depletion syndrome
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A mitochondrial metabolism disease that is charact..[+]
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mitochondrial DNA depletion syndrome 16B |
mitochondrial DNA depletion syndrome 16B (neurooph..
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A mitochondrial DNA depletion syndrome characteriz..[+]
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mitochondrial complex V (ATP synthase) deficiency nuclear type 7 |
MC5DN7
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A mitochondrial complex V (ATP synthase) deficienc..[+]
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muscular disease |
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A musculoskeletal system disease that affects the ..[+]
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metaphyseal dysplasia |
Bakwin-Krida syndrome; Pyle's disease; Pyle-Cohn s..
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An osteochondrodysplasia that results_in thinning ..[+]
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myofibrillar myopathy 1 |
desminopathy
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n_a
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myofibrillar myopathy 2 |
alpha-b crystallinopathy
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n_a
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myofibrillar myopathy 3 |
myotilinopathy
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n_a
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myofibrillar myopathy 4 |
zaspopathy
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A myofibrillar myopathy that has_material_basis_in..[+]
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myofibrillar myopathy 5 |
filaminopathy
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n_a
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myofibrillar myopathy 6 |
BAG3-related myofibrillar myopathy
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A myofibrillar myopathy that has_material_basis_in..[+]
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myofibrillar myopathy 7 |
alpha-b crystalin-related fatal infantile hyperton..
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n_a
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myopathy, lactic acidosis, and sideroblastic anemia |
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n_a
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microcephaly and chorioretinopathy 1 |
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A syndrome that is characterized by delayed psycho..[+]
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microcephaly and chorioretinopathy 2 |
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A syndrome that is characterized by delayed psycho..[+]
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microcephaly and chorioretinopathy 3 |
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A syndrome that is characterized by congenital mic..[+]
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myoglobinuria |
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A myopathy that is characterized by an increased u..[+]
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mitochondrial complex III deficiency nuclear type 1 |
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A mitochondrial complex III deficiency characteriz..[+]
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mitochondrial complex III deficiency nuclear type 3 |
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A mitochondrial complex III deficiency that has_ma..[+]
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mitochondrial complex III deficiency nuclear type 4 |
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A mitochondrial complex III deficiency that has_ma..[+]
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mitochondrial complex III deficiency nuclear type 5 |
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A mitochondrial complex III deficiency characteriz..[+]
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mitochondrial complex III deficiency nuclear type 6 |
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A mitochondrial complex III deficiency characteriz..[+]
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mitochondrial complex III deficiency nuclear type 7 |
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A mitochondrial complex III deficiency that has_ma..[+]
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mitochondrial complex III deficiency nuclear type 8 |
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A mitochondrial complex III deficiency characteriz..[+]
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mitochondrial complex III deficiency nuclear type 9 |
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A mitochondrial complex III deficiency that has_ma..[+]
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mitochondrial DNA depletion syndrome 1 |
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n_a
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mitochondrial DNA depletion syndrome 2 |
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n_a
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