Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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mitochondrial DNA depletion syndrome 18 |
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A mitochondrial DNA depletion syndrome characteriz..[+]
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mitochondrial DNA depletion syndrome 19 |
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A mitochondrial DNA depletion syndrome that has_ma..[+]
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mitochondrial DNA depletion syndrome 20 |
mitochondrial DNA depletion syndrome 20 (MNGIE typ..
[+]
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A mitochondrial DNA depletion syndrome characteriz..[+]
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mitochondrial complex V (ATP synthase) deficiency nuclear type 4A |
MC5DN4A
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A mitochondrial complex V (ATP synthase) deficienc..[+]
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mitochondrial complex V (ATP synthase) deficiency nuclear type 4B |
MC5DN4B
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A mitochondrial complex V (ATP synthase) deficienc..[+]
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mitochondrial complex V (ATP synthase) deficiency nuclear type 5 |
MC5DN5
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A mitochondrial complex V (ATP synthase) deficienc..[+]
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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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mitochondrial complex IV deficiency nuclear type 23 |
MC4DN23
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A cytochrome-c oxidase deficiency disease characte..[+]
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mitochondrial complex IV deficiency nuclear type 1 |
MC4DN1
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 3 |
MC4DN3
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 4 |
MC4DN4
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 7 |
MC4DN7
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 8 |
MC4DN8
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 10 |
MC4DN10
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 11 |
MC4DN11
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 12 |
MC4DN12
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 14 |
MC4DN14
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 15 |
MC4DN15
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 16 |
MC4DN16
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 17 |
MC4DN17
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 18 |
MC4DN18
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 19 |
MC4DN19
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 20 |
MC4DN20
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 21 |
MC4DN21
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A COX deficiency, benign infantile mitochondrial m..[+]
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mitochondrial complex IV deficiency nuclear type 22 |
MC4DN22
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A COX deficiency, benign infantile mitochondrial m..[+]
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metabolic dysfunction and alcohol associated liver disease |
A steatotic liver disease characterized by at leas..[+]
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Mitchell syndrome |
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A peroxisomal disease characterized by progressive..[+]
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mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
ECHS1D
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A mitochondrial metabolism disease characterized b..[+]
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muscular disease |
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A musculoskeletal system disease that affects the ..[+]
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34 articles | |
metaphyseal dysplasia |
Bakwin-Krida syndrome; Pyle's disease; Pyle-Cohn s..
[+]
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An osteochondrodysplasia that is characterized by ..[+]
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mucolipidosis II alpha/beta |
A mucolipidosis that is characterized by short sta..[+]
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mucolipidosis III alpha/beta |
mucolipidosis III; pseudo-Hurler polydystrophy
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A mucolipidosis that has_material_basis_in mutatio..[+]
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1 articles | |
myofibrillar myopathy 1 |
desminopathy; autosomal recessive limb-girdle musc..
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A myofibrillar myopathy that has_material_basis_in..[+]
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myofibrillar myopathy 2 |
alpha-b crystallinopathy
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A myofibrillar myopathy that has_material_basis_in..[+]
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myofibrillar myopathy 3 |
myotilinopathy; autosomal dominant limb-girdle mus..
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A myofibrillar myopathy that has_material_basis_in..[+]
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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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A myofibrillar myopathy that has_material_basis_in..[+]
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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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A myofibrillar myopathy that has_material_basis_in..[+]
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myopathy, lactic acidosis, and sideroblastic anemia |
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A mitochondrial myopathy that is characterized by ..[+]
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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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