Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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mitochondrial DNA depletion syndrome 7 |
infantile onset spinocerebellar ataxia; OHAHA SYND..
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A mitochondrial DNA depletion syndrome that is cha..[+]
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mitochondrial DNA depletion syndrome 8a |
RRM2B-related mitochondrial DNA depletion syndrome..
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A mitochondrial DNA depletion syndrome that is cha..[+]
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mitochondrial DNA depletion syndrome 9 |
fatal infantile lactic acidosis
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A mitochondrial DNA depletion syndrome that is cha..[+]
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mitochondrial DNA depletion syndrome 11 |
progressive external ophthalmoplegia-myopathy-emac..
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A mitochondrial DNA depletion syndrome that is cha..[+]
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mitochondrial DNA depletion syndrome 12 |
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n_a
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mitochondrial DNA depletion syndrome 13 |
mitochondrial DNA depletion syndrome 13, encephalo..
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A mitochondrial DNA depletion syndrome that is cha..[+]
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multiple mitochondrial dysfunctions syndrome 1 |
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n_a
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multiple mitochondrial dysfunctions syndrome 2 |
multiple mitochondrial dysfunctions syndrome 2 wit..
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A multiple mitochondrial dysfunctions syndrome tha..[+]
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multiple mitochondrial dysfunctions syndrome 3 |
IBA57 deficiency
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A multiple mitochondrial dysfunctions syndrome tha..[+]
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multiple mitochondrial dysfunctions syndrome 4 |
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A multiple mitochondrial dysfunctions syndrome tha..[+]
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multiple endocrine neoplasia type 4 |
Multiple Endocrine Neoplasia, Type IV
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A multiple endocrine neoplasia that is characteriz..[+]
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multiple congenital anomalies-hypotonia-seizures syndrome 1 |
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n_a
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multiple congenital anomalies-hypotonia-seizures syndrome 2 |
developmental and epileptic encephalopathy 20; ear..
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A multiple congenital anomalies-hypotonia-seizures..[+]
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multiple congenital anomalies-hypotonia-seizures syndrome 3 |
M syndrome; light fixation seizure syndrome
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A multiple congenital anomalies-hypotonia-seizures..[+]
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mosaic variegated aneuploidy syndrome 1 |
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A mosaic variegated aneuploidy syndrome that is ch..[+]
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mosaic variegated aneuploidy syndrome 2 |
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A mosaic variegated aneuploidy syndrome that is ch..[+]
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medium chain acyl-CoA dehydrogenase deficiency |
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A lipid metabolism disorder that is characterized ..[+]
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myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 |
Myeloid and Lymphoid Neoplasms with Eosinophilia a..
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A myeloid neoplasm that is characterized by the fo..[+]
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myeloid and lymphoid neoplasms associated with PDGFRA rearrangement |
Myeloid and Lymphoid Neoplasms with PDGFRA Rearran..
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A myeloid and lymphoid neoplasms with eosinophilia..[+]
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myeloid and lymphoid neoplasms associated with PDGFRB rearrangement |
Myeloid and Lymphoid Neoplasms with PDGFRB Rearran..
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A myeloid and lymphoid neoplasms with eosinophilia..[+]
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myeloid and lymphoid neoplasms associated with FGFR1 abnormalities |
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A myeloid and lymphoid neoplasms with eosinophilia..[+]
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meningococcal meningitis |
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A bacterial meningitis that has_material_basis_in ..[+]
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mucositis |
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A gastrointestinal system disease that is characte..[+]
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mixed fibrolamellar hepatocellular carcinoma |
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A fibrolamellar carcinoma that is characterized by..[+]
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medullary colon carcinoma |
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A colon carcinoma that is characterized by a solid..[+]
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mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma |
mixed mucinous and non-mucinous bronchioloalveolar..
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A bronchiolo-alveolar adenocarcinoma that is chara..[+]
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mucinous bronchioloalveolar adenocarcinoma |
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A bronchiolo-alveolar adenocarcinoma that is chara..[+]
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malignant hemangioma |
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A cell type cancer of vascular origin, characteriz..[+]
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malignant epithelioid hemangioendothelioma |
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A malignant hemangioma characterized by the presen..[+]
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Marinesco-Sjogren syndrome |
Marinesco-Garland syndrome; Garland-Moorhouse synd..
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A syndrome characterized by congenital cataracts, ..[+]
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mandibulofacial dysostosis, Guion-Almeida type |
mandibulofacial dysostosis-microcephaly syndrome; ..
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A syndrome characterized by progressive microcepha..[+]
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metabolic dysfunction-associated steatotic liver disease |
A steatotic liver disease characterized by at leas..[+]
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3 articles | ||
Meckel syndrome 13 |
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A Meckel syndrome that has_material_basis_in homoz..[+]
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mixed sleep apnea |
complex sleep apnea
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A sleep apnea that is characterized by a combinati..[+]
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mucinous lung adenocarcinoma |
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A lung adenocarcinoma with tumor cells floating in..[+]
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myofibrillar myopathy |
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A myopathy that is characterized by slowly progres..[+]
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megalencephalic leukoencephalopathy with subcortical cysts |
megalencephalic leukodystrophy megalencephaly-cyst..
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A leukodystorphy characterized by infantile-onset ..[+]
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megalencephalic leukoencephalopathy with subcortical cysts 1 |
leukoencephalopathy with swelling and cysts; Van D..
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A megalencephalic leukoencephalopathy with subcort..[+]
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megalencephalic leukoencephalopathy with subcortical cysts 2B |
megalencephalic leukoencephalopathy with subcortic..
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A megalencephalic leukoencephalopathy with subcort..[+]
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megalencephalic leukoencephalopathy with subcortical cysts 2A |
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A megalencephalic leukoencephalopathy with subcort..[+]
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mitochondrial DNA depletion syndrome 12b |
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A mitochondrial DNA depletion syndrome that is cha..[+]
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malignant pheochromocytoma |
Pheochromocytoma, malignant
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An adrenal medulla cancer that arises within the a..[+]
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mitochondrial complex IV deficiency nuclear type 2 |
MC4DN2; fatal infantile cardioencephalomyopathy du..
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A COX deficiency, infantile mitochondrial myopathy..[+]
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mitochondrial complex IV deficiency nuclear type 6 |
MC4DN6; fatal infantile cardioencephalomyopathy du..
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A COX deficiency, infantile mitochondrial myopathy..[+]
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mitochondrial complex IV deficiency nuclear type 9 |
MC4DN9; fatal infantile cardioencephalomyopathy du..
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A COX deficiency, infantile mitochondrial myopathy..[+]
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mitochondrial complex IV deficiency nuclear type 13 |
MC4DN13; fatal infantile cardioencephalomyopathy d..
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A COX deficiency, infantile mitochondrial myopathy..[+]
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mitochondrial pyruvate carrier deficiency |
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A mitochondrial metabolism disease that is charact..[+]
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microcephaly, seizures, and developmental delay |
developmental and epileptic encephalopathy 10; ear..
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A developmental and epileptic encephalopathy chara..[+]
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1 articles | |
mucolipidosis type IV |
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A mucolipidosis that is characterized by delayed d..[+]
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multiple congenital anomalies-hypotonia-seizures syndrome |
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A lipid metabolism disorder that is characterized ..[+]
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