Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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supratentorial meningioma |
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A meningioma that affects the supratentorial brain..[+]
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spinal ependymoma, MYCN-amplified |
A spinal cord ependymoma that is characterized by ..[+]
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supratentorial ependymoma |
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A high grade ependymoma that is located within the..[+]
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solitary fibrous tumor/hemangiopericytoma |
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A connective tissue cancer that is characterized a..[+]
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sporadic amyotrophic lateral sclerosis |
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An amyotrophic lateral sclerosis that is character..[+]
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serum amyloid A amyloidosis |
secondary amyloidosis; AA amyloidosis; Apo serum a..
[+]
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An amyloidosis that is characterized by sustained ..[+]
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syndromic X-linked intellectual disorder Lujan-Fryns-type |
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A syndromic X-linked intellectual disability that ..[+]
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severe COVID-19 |
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A COVID-19 that is characterized by any of (1) Oxy..[+]
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ST2 diffuse large B-cell lymphoma |
ST2 DLBCL
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A diffuse large B-cell lymphoma that is categorize..[+]
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spastic paraplegia with deafness |
Spastic paraparesis-deafness syndrome; Wells Janko..
[+]
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A hereditary spastic paraplegia that is characteri..[+]
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short stature, hearing loss, retinitis pigmentosa, and distinctive facies |
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A syndrome that is characterized by short stature,..[+]
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supratentorial ependymoma, ZFTA fusion–positive |
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A suptratentorial ependymoma that is characterized..[+]
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supratentorial ependymoma, YAP1 fusion–positive |
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A supratentorial ependymoma that is characterized ..[+]
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Smith-McCort dysplasia 1 |
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A Smith-McCort dysplasia that is characterized by ..[+]
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Smith-McCort dysplasia 2 |
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A Smith-McCort dysplasia that is characterized by ..[+]
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Sandestig-Stefanova syndrome |
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A syndrome that is characterized by microcephaly, ..[+]
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Siddiqi syndrome |
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A lipid storage disease that is characterized by g..[+]
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salivary gland mucoepidermoid carcinoma |
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A mucoepidermoid carcinoma located_in the salivary..[+]
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spindle cell oncocytoma |
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A posterior pituitary benign neoplasm that is char..[+]
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spinal muscular atrophy, Jokela type |
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A spinal muscular atrophy that is characterized by..[+]
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spastic quadriplegic cerebral palsy 2 |
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A spastic quadriplegic cerebral palsy that has_mat..[+]
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spastic quadriplegic cerebral palsy 3 |
CPSQ3
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A spastic quadriplegic cerebral palsy that has_mat..[+]
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semantic dementia |
A primary progressive aphasia that is characterize..[+]
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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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Stolerman neurodevelopmental syndrome |
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A syndrome that is characterized by developmental ..[+]
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sickle cell disease |
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A blood protein disease that is characterized by c..[+]
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Schwartz-Jampel syndrome 1 |
A syndrome characterized by neuromyotonia and chon..[+]
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severe combined immunodeficiency with sensitivity to ionizing radiation |
Severe combined immunodeficiency, Athabaskan type; ..
[+]
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A severe combined immunodeficiency characterized b..[+]
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severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive |
Severe combined immunodeficiency due to complete R..
[+]
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A severe combined immunodeficiency characterized b..[+]
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severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive |
autosomal recessive T cell-negative, B-cell negati..
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A severe combined immunodeficiency characterized b..[+]
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sitosterolemia |
phytosterolemia
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An intestinal disease that is characterized by aut..[+]
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split hand-foot malformation |
split-hand deformity; lobster-claw deformity
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A bone development disease characterized by malfor..[+]
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split hand-foot malformation 1 |
SHFM1; SHFD1
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A split-hand/foot malformation that has_material_b..[+]
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split hand-foot malformation 5 |
SHFM5
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A split-hand/foot malformation that has_material_b..[+]
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split hand-foot malformation 4 |
SHFM4
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A split-hand/foot malformation that has_material_b..[+]
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split hand-foot malformation 1 with sensorineural hearing loss |
SHFM1D; congenital deafness with split hands and f..
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A split-hand/foot malformation characterized by sp..[+]
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split hand-foot malformation 3 |
SHFM3; chromosome 10q24 duplication syndrome; dist..
[+]
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A split-hand/foot malformation that has_material_b..[+]
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split hand-foot malformation 6 |
SHFM6
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A split-hand/foot malformation that has_material_b..[+]
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split hand-foot malformation 2 |
SHFM2
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A split-hand/foot malformation that has_material_b..[+]
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Silverman-Handmaker type dyssegmental dysplasia |
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An osteochondrodysplasia characterized by short-li..[+]
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Sorsby's fundus dystrophy |
SFD; hemorrhagic macular dystrophy; pseudoinflamma..
[+]
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A hereditary retinal dystrophy that is characteriz..[+]
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spinocerebellar ataxia with axonal neuropathy 1 |
spinocerebellar ataxia with axonal neuropathy type..
[+]
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A nervous system disease characterized by autosoma..[+]
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spondylocarpotarsal synostosis syndrome |
A bone development disease that is characterized b..[+]
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short-rib thoracic dysplasia 7 with or without polydactyly |
An asphyxiating thoracic dystrophy that has_materi..[+]
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short-rib thoracic dysplasia 10 with or without polydactyly |
SRTD10
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An asphyxiating thoracic dystrophy that has_materi..[+]
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short-rib thoracic dysplasia 6 with or without polydactyly |
An asphyxiating thoracic dystrophy that has_materi..[+]
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short-rib thoracic dysplasia 13 with or without polydactyly |
SRTD13
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An asphyxiating thoracic dystrophy that has_materi..[+]
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short-rib thoracic dysplasia 8 with or without polydactyly |
An asphyxiating thoracic dystrophy that has_materi..[+]
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short-rib thoracic dysplasia 11 with or without polydactyly |
SRTD11
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An asphyxiating thoracic dystrophy that has_materi..[+]
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short-rib thoracic dysplasia 14 with polydactyly |
SRTD14
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An asphyxiating thoracic dystrophy that has_materi..[+]
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