Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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syndromic X-linked intellectual disability Turner type |
Brooks-Wisniewski-Brown syndrome; mental retardati..
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A syndromic X-linked intellectual disability chara..[+]
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patterned macular dystrophy 2 |
butterfly-shaped pigmentary maculary dystrophy 2; ..
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A patterned macular dystrophy characterized by bil..[+]
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patterned macular dystrophy 1 |
butterfly-shaped pigmentary maculary dystrophy 1; ..
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A patterned macular dystrophy characterized by bil..[+]
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hypoparathyroidism-deafness-renal disease syndrome |
Barakat syndrome; HDR syndrome; hypoparathyroidism..
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A chromosomal deletion syndrome that is characteri..[+]
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renal hypomagnesemia 5 with ocular involvement |
bilateral macular coloboma with hypercalciuria; fa..
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A hypomagnesemia characterized by autosomal recess..[+]
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hypervalinemia and hyperleucine-isoleucinemia |
branched-chain aminotransferase 2 deficiency
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An amino acid metabolic characterized by highly el..[+]
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progressive familial intrahepatic cholestasis 2 |
BSEP deficiency; PFIC2
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A progressive familial intrahepatic cholestasis ch..[+]
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multiple epiphyseal dysplasia 5 |
A multiple epiphyseal dysplasia that has_material_..[+]
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craniolenticulosutural dysplasia |
Boyadjiev-Jabs Syndrome; cranio-lenticulo-sutural ..
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A syndrome in neonates that is characterized by fa..[+]
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primary biliary cholangitis 1 |
BILIARY CIRRHOSIS, PRIMARY, 1; PBC1
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A primary biliary cholangitis that has_material_ba..[+]
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primary biliary cholangitis 2 |
BILIARY CIRRHOSIS, PRIMARY, 2; PBC2
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A primary biliary cholangitis that has_material_ba..[+]
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primary biliary cholangitis 3 |
BILIARY CIRRHOSIS, PRIMARY, 3; PBC3
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A primary biliary cholangitis that has_material_ba..[+]
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primary biliary cholangitis 4 |
BILIARY CIRRHOSIS, PRIMARY, 4; PBC4
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A primary biliary cholangitis that has_material_ba..[+]
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primary biliary cholangitis 5 |
BILIARY CIRRHOSIS, PRIMARY, 5; PBC5
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A primary biliary cholangitis that has_material_ba..[+]
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nevoid basal cell carcinoma syndrome 1 |
basal cell nevus syndrome 1
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A nevoid basal cell carcinoma syndrome that has_ma..[+]
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nevoid basal cell carcinoma syndrome 2 |
basal cell nevus syndrome 2
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A nevoid basal cell carcinoma syndrome that has_ma..[+]
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infantile parkinsonism-dystonia 2 |
Brain dopamine-serotonin vesicular transport disea..
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A movement disease characterized by parkinsonism, ..[+]
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arrhythmogenic biventricular cardiomyopathy |
biventricular ACM
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An intrinsic cardiomyopathy characterized by hypok..[+]
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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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Worth syndrome |
benign form of Worth hyperostosis corticalis gener..
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A hyperostosis that has_material_basis_in a mutati..[+]
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fibrogenesis imperfecta ossium |
Baker's disease
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A syndrome that involves abnormality of collagen s..[+]
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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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multiple mitochondrial dysfunctions syndrome 2 |
BOLA3 deficiency; multiple mitochondrial dysfuncti..
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A multiple mitochondrial dysfunctions syndrome tha..[+]
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Clark-Baraitser syndrome |
Baraitser syndrome; autosomal dominant intellectua..
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An autosomal dominant intellectual developmental d..[+]
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nephroma |
benign nephroma
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A kidney benign neoplasm that is located_in the ki..[+]
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Elsahy-Waters syndrome |
branchioskeletogenital syndrome
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A syndrome that is characterized by brachycephaly,..[+]
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diaphyseal medullary stenosis with malignant fibrous histiocytoma |
bone dysplasia-medullary fibrosarcoma syndrome; di..
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An osteochondrodysplasia that is characterized by ..[+]
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low grade glioma |
benign glioma
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A cell type benign neoplasm that has_material_basi..[+]
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dialysis-related amyloidosis |
Beta2-microglobulinic amyloidosis; ABeta2M amyloid..
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An amyloidosis that is characterized by the deposi..[+]
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Teebi hypertelorism syndrome |
Brachycephalofrontonasal dysplasia
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A syndrome characterized by hypertelorism, promine..[+]
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hot water epilepsy |
bathing epilepsy; water immersion epilepsy
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A reflex epilepsy that is characterized by seizure..[+]
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sarcoma with BCOR genetic alterations |
BCOR-Rearranged Sarcoma
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A small cell sarcoma that is characterized by the ..[+]
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Schwartz-Jampel syndrome 1 |
A syndrome characterized by neuromyotonia and chon..[+]
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autosomal recessive limb-girdle muscular dystrophy type 2E |
Beta-sarcoglycanopathy; LGMD2E; Limb-girdle muscul..
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An autosomal recessive limb-girdle muscular dystro..[+]
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neuronal ceroid lipofuscinosis 3 |
Batten disease; CLN3; juvenile neuronal ceroid lip..
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A neuronal ceroid lipofuscinosis that is character..[+]
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neurodegeneration with brain iron accumulation 5 |
A neurodegeneration with brain iron accumulation t..[+]
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Sugarman brachydactyly |
brachydactyly with major proximal phalangeal short..
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A brachydactyly characterized by a nonarticulating..[+]
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African iron overload |
Bantu siderosis; iron overload in Africa
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A hemochromatosis characterized by a predispositio..[+]
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gray platelet syndrome |
BDPLT4; GPS; platelet-type bleeding disorder 4; pl..
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A blood platelet disease characterized by selectiv..[+]
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platelet-type bleeding disorder 9 |
BDPLT9; collagen platelet receptor deficiency; gly..
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A blood platelet disease characterized by autosoma..[+]
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platelet-type bleeding disorder 10 |
BDPLT10; CD36 deficiency; platelet glycoprotein IV..
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A blood platelet disease characterized by autosoma..[+]
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platelet-type bleeding disorder 14 |
BDPLT14; thromboxane synthase deficiency
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A blood platelet disease characterized by autosoma..[+]
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platelet-type bleeding disorder 19 |
BDPLT19; severe autosomal recessive macrothrombocy..
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A blood platelet disease characterized by autosoma..[+]
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platelet-type bleeding disorder 17 |
BDPLT17; hereditary thrombasthenia-thrombocytopeni..
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A blood platelet disease characterized by autosoma..[+]
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Quebec platelet disorder |
BDPLT5; platelet-type bleeding disorder 5; factor ..
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A blood platelet disease characterized by autosoma..[+]
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platelet-type bleeding disorder 18 |
bleeding disorder due to calcium- and DAG-regulate..
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A blood platelet disease characterized by autosoma..[+]
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Scott syndrome |
A blood coagulation disease characterized by autos..[+]
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platelet-type bleeding disorder 15 |
BDPLT15; autosomal dominant macrothrombocytopenia ..
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A blood platelet disease characterized by autosoma..[+]
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platelet-type bleeding disorder 20 |
BDPLT20; autosomal dominant thrombocytopenia with ..
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A blood platelet disease characterized by autosoma..[+]
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platelet-type bleeding disorder 3 |
BDPLT3; PT-VWD; von Willebrand disease platelet-ty..
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A blood platelet disease characterized by enhanced..[+]
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