Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Sengers syndrome |
mitochondrial DNA depletion syndrome 10
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n_a
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short chain acyl-CoA dehydrogenase deficiency |
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A lipid metabolism disorder that is characterized ..[+]
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superior semicircular canal dehiscence |
An inner ear disease characterized by dehiscence i..[+]
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syndromic X-linked mental retardation Hough type |
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A syndromic X-linked intellectual disability that ..[+]
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spinocerebellar ataxia 44 |
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An autosomal dominant cerebellar ataxia that has_m..[+]
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Smarca4-deficient sarcoma of thorax |
SMARCA4-DTS
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A thoracic cancer that is characterized by poorly ..[+]
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spinal muscular atrophy type 0 |
very severe spinal muscular atrophy
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A childhood spinal muscular atrophy that is eviden..[+]
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Stickler syndrome 1 |
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A Stickler syndrome that has_material_basis_in het..[+]
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Sweet syndrome |
Sweet's syndrome; Acute Febrile Neutrophilic Derma..
[+]
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A skin disease that is characterized by sudden ons..[+]
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salivary gland mucinous adenocarcinoma |
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A salivary gland carcinoma that is characterized b..[+]
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subjective cognitive decline |
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A cognitive disorder that is characterized by the ..[+]
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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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solitary fibrous tumor/hemangiopericytoma |
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A connective tissue cancer that is characterized a..[+]
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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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Smith-McCort dysplasia 2 |
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A Smith-McCort dysplasia that is characterized by ..[+]
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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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sorbitol dehydrogenase deficiency with peripheral neuropathy |
SORDD
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A neuromuscular disease that is characterized by o..[+]
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Schwartz-Jampel syndrome 1 |
An autosomal recessive disease characterized by ne..[+]
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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 characterized by au..[+]
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spinocerebellar ataxia type 1 with axonal neuropathy |
SCAN1; autosomal recessive spinocerebellar ataxia ..
[+]
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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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short-rib thoracic dysplasia 9 with or without polydactyly |
SRTD9; renal dysplasia, retinal pigmentary dystrop..
[+]
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An asphyxiating thoracic dystrophy that has_materi..[+]
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Stromme syndrome |
apple peel syndrome with microcephaly and ocular a..
[+]
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A primary ciliary dyskinesia that is characterized..[+]
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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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Scott syndrome |
SCTS; BDPLT7; bleeding abnormality due to deficien..
[+]
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A blood coagulation disease characterized by autos..[+]
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SADDAN |
severe achondroplasia with developmental delay and..
[+]
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An autosomal dominant disease characterized by sev..[+]
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