Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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common variable immunodeficiency 2 |
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A common variable immunodeficiency that has_materi..[+]
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common variable immunodeficiency 3 |
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A common variable immunodeficiency that has_materi..[+]
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common variable immunodeficiency 4 |
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A common variable immunodeficiency that has_materi..[+]
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common variable immunodeficiency 5 |
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A common variable immunodeficiency that has_materi..[+]
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common variable immunodeficiency 6 |
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A common variable immunodeficiency that has_materi..[+]
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common variable immunodeficiency 7 |
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A common variable immunodeficiency that has_materi..[+]
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common variable immunodeficiency 8 |
common variable immunodeficiency-8 (CVID8) with au..
[+]
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A common variable immunodeficiency that has_materi..[+]
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common variable immunodeficiency 10 |
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A common variable immunodeficiency that has_materi..[+]
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common variable immunodeficiency 11 |
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A common variable immunodeficiency that has_materi..[+]
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common variable immunodeficiency 12 |
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A common variable immunodeficiency that is charact..[+]
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common variable immunodeficiency 13 |
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A common variable immunodeficiency that is charact..[+]
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common variable immunodeficiency 14 |
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A common variable immunodeficiency that has_materi..[+]
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cauda equina neuroendocrine tumor |
Cauda equina neuroendocrine tumour; Spinal neuroen..
[+]
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A cauda equina neoplasm that is a slow-growing, we..[+]
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CIC-rearranged sarcoma |
Capicua transcriptional repressor (CIC)-rearranged..
[+]
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An EWSERI-negative small round cell tumor that is ..[+]
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cerebellar atrophy, visual impairment, and psychomotor retardation |
CAVIPMR
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A syndrome that is characterized by cerebellar atr..[+]
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chronic traumatic encephalopathy |
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A tauopathy that is characterized by an abundance ..[+]
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central nervous system tumor with BCOR internal tandem duplication |
CNS tumour with BCOR internal tandem duplication
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A central nervous system embryonal tumor that is c..[+]
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contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A |
Autosomal dominant multiple pterygium syndrome
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A contractures, pterygia, and spondylocarpotarsal ..[+]
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contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B |
Autosomal recessive multiple pterygium syndrome
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A contractures, pterygia, and spondylocarpotarsal ..[+]
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congenital myopathy |
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A myopathy that is characterized by hypotonia and ..[+]
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congenital myopathy 2B |
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A congenital myopathy that is characterized by sev..[+]
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congenital myopathy 2C |
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A congenital myopathy that is characterized by sev..[+]
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congenital myopathy 5 |
congenital myopathy-5 with cardiomyopathy; Salih m..
[+]
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A congenital myopathy that is characterized by the..[+]
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congenital myopathy 8 |
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A congenital myopathy that is characterized by hyp..[+]
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congenital myopathy 9A |
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A congenital myopathy that is characterized by neo..[+]
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congenital myopathy 9B |
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A congenital myopathy that is neonatal hypotonia f..[+]
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congenital myopathy 10B |
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A congenital myopathy that is characterized by inf..[+]
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congenital myopathy 14 |
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A congenital myopathy that is characterized by ons..[+]
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congenital myopathy 15 |
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A congenital myopathy that is characterized by sym..[+]
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congenital myopathy 16 |
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A congenital myopathy that is characterized by ons..[+]
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congenital myopathy 17 |
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A congenital myopathy that is characterized by hyp..[+]
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congenital myopathy 18 |
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A congenital myopathy that is characterized by the..[+]
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congenital myopathy 19 |
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A congenital myopathy that is characterized by inf..[+]
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congenital myopathy 20 |
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A congenital myopathy that has_material_basis_in h..[+]
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congenital myopathy 21 |
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A congenital myopathy that is characterized by dia..[+]
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congenital myopathy 22A |
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A congenital myopathy that is characterized by ons..[+]
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congenital myopathy 22B |
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A congenital myopathy that is characterized by in ..[+]
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COX deficiency, benign infantile mitochondrial myopathy |
Isolated cytochrome C oxidase deficiency
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A cytochrome-c oxidase deficiency disease characte..[+]
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corticobasal degeneration syndrome |
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A frontotemporal dementia that characterized by th..[+]
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Caroli syndrome |
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A syndrome that is characterized by the presence o..[+]
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childhood sarcoma with BCOR genetic alterations |
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A sarcoma with BCOR genetic alterations that occur..[+]
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childhood round cell sarcoma with EWSR1-non-ETS fusion |
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A round cell sarcoma with EWSR1-non-ETS fusion tha..[+]
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childhood renal cell carcinoma with MiT translocations |
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A renal cell carcinoma with MiT translocations tha..[+]
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childhood-onset dystonia with optic atrophy and basal ganglia abnormalities |
DYSTONIA 29, CHILDHOOD-ONSET; DYTOABG; MECR-relate..
[+]
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A dystonia that is characterized by characterized ..[+]
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cone-rod dystrophy 21 |
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 22 |
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A cone-rod dystrophy that is characterized by loss..[+]
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cone-rod dystrophy 24 |
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A cone-rod dystrophy that is characterized by nigh..[+]
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Cenani-Lenz syndactyly syndrome |
syndactyly type 7
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A dysostosis characterized by syndactyly, malforma..[+]
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chromosome 5q deletion syndrome |
5q- syndrome, refractory macrocytic anemia due to ..
[+]
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A chromosomal deletion syndrome characterized by s..[+]
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1 articles | |
CINCA Syndrome |
An autoimmune disease characterized by neonatal on..[+]
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