Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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megalencephalic leukoencephalopathy with subcortical cysts 2A |
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A megalencephalic leukoencephalopathy with subcort..[+]
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multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly |
MARCH
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A syndrome that is characterized by severe hydrane..[+]
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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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mitochondrial DNA depletion syndrome 14 |
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A mitochondrial DNA depletion syndrome that is cha..[+]
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mitochondrial DNA depletion syndrome 15 |
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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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Meier-Gorlin syndrome 1 |
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A Meier-Gorlin syndrome that has_material_basis_in..[+]
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Meier-Gorlin syndrome 2 |
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A Meier-Gorlin syndrome that has_material_basis_in..[+]
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Meier-Gorlin syndrome 3 |
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A Meier-Gorlin syndrome that has_material_basis_in..[+]
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Meier-Gorlin syndrome 4 |
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A Meier-Gorlin syndrome that has_material_basis_in..[+]
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Meier-Gorlin syndrome 5 |
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A Meier-Gorlin syndrome that has_material_basis_in..[+]
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Meier-Gorlin syndrome 6 |
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A Meier-Gorlin syndrome that has_material_basis_in..[+]
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Meier-Gorlin syndrome 7 |
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A Meier-Gorlin syndrome that has_material_basis_in..[+]
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myxofibrosarcoma |
fibromyxoid sarcoma
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A sarcoma that arises from the soft tissue and is ..[+]
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metabolic dysfunction-associated steatohepatitis |
MASH; NASH; non-alcoholic steatohepatitis; nonalco..
[+]
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A metabolic dysfunction-associated steatotic liver..[+]
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Middle East respiratory syndrome |
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A Coronavirus infectious disease that is character..[+]
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Meesmann corneal dystrophy 1 |
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A Messmann corneal dystrophy that is characterized..[+]
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Meesmann corneal dystrophy 2 |
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A Messmann corneal dystrophy that is characterized..[+]
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mucolipidosis III gamma |
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A mucolipidosis that has_material_basis_in mutatio..[+]
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mosaic variegated aneuploidy syndrome |
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A syndrome that is characterized by cell mosaicism..[+]
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mosaic variegated aneuploidy syndrome 3 |
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A mosaic variegated aneuploidy syndrome that has_m..[+]
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medulloblastoma WNT activated |
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A medulloblastoma that is characterized as a molec..[+]
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medulloblastoma SHH activated |
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A medulloblastoma that is characterized as a molec..[+]
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medulloblastoma SHH activated and TP53 mutant |
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A medulloblastoma SHH activated that is characteri..[+]
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medulloblastoma SHH activated and TP53 wild-type |
Medulloblastoma SHH-Activated TP53-Wildtype
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A medulloblastoma SHH activated that is characteri..[+]
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medulloblastoma non-WNT/non-SHH |
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A medulloblastoma that is characterized as a molec..[+]
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medulloblastoma non-WNT/non-SHH group 3 |
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A medulloblastoma non-WNT/non-SHH that is characte..[+]
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medulloblastoma non-WNT/non-SHH group 4 |
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A medulloblastoma non-WNT/non-SHH that is characte..[+]
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multisystem inflammatory syndrome in children |
multisystem inflammatory disorder in children and ..
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A Coronavirus infectious disease that is character..[+]
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mucinous pancreas adenocarcinoma |
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A pancreatic adenocarcinoma that derives_from epit..[+]
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myeloid leukemia associated with Down Syndrome |
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An acute megakaryocytic leukemia occurring in chil..[+]
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mammary analogue secretory carcinoma |
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A salivary gland carcinoma that has_material_basis..[+]
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mild cognitive impairment |
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A cognitive disorder that is characterized by obje..[+]
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mixed phenotype acute leukemia with BCR-ABL1 |
Mixed Phenotype Acute Leukemia with t(9; 22)(q34.1..
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An acute biphenotypic leukemia that is characteriz..[+]
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mixed phenotype acute leukemia with MLL rearranged |
An acute biphenotypic leukemia that is characteriz..[+]
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mixed phenotype acute leukemia, B/myeloid |
Mixed Phenotype Acute Leukemia, B/Myeloid
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An acute biphenotypic leukemia that is characteriz..[+]
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microcephaly, growth deficiency, seizures, and brain malformations |
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A syndrome that is characterized by intrauterine g..[+]
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MCD diffuse large B-cell lymphoma |
MCD DLBCL
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A diffuse large B-cell lymphoma that is categorize..[+]
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Marsili syndrome |
congenital analgesia; congenital insensitivity to ..
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A syndrome that is characterized by a lowered abil..[+]
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mandibuloacral dysplasia |
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A bone development disease that is characterized b..[+]
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mandibuloacral dysplasia type A lipodystrophy |
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A mandibuloacral dysplasia that has_material_basis..[+]
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mandibuloacral dysplasia type B lipodystrophy |
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A mandibuloacral dysplasia that has_material_basis..[+]
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