Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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spermatogenic failure 1 |
SPGF1; oligochiasmatic infertility; oligosynaptic ..
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A spermatogenic failure that is characterized by a..[+]
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systemic Epstein-Barr virus positive T-cell lymphoma of childhood |
systemic EBV-positive T-cell lymphoma of childhood..
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A childhood lymphoma that is characterized by mono..[+]
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spinal muscular atrophy with lower extremity predominant |
spinal muscular atrophy with lower extremity predo..
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A spinal muscular atrophy that has_material_basis_..[+]
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spinal muscular atrophy with lower extremity predominant 2A |
spinal muscular atrophy with lower extremity predo..
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A spinal muscular atrophy with lower extremity pre..[+]
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spinal muscular atrophy with lower extremity predominant 2B |
spinal muscular atrophy with lower extremity predo..
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A spinal muscular atrophy with lower extremity pre..[+]
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spinal muscular atrophy with lower extremity predominant 1 |
spinal muscular atrophy with lower extremity predo..
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A spinal muscular atrophy with lower extremity pre..[+]
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stress-induced childhood-onset neurodegeneration with variable ataxia and seizures |
CONDSIAS
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A neurodegenerative disease characterized by varia..[+]
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syndromic X-linked intellectual disability Pilorge type |
MRXSP
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A syndromic X-linked intellectual disability chara..[+]
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spinocerebellar ataxia with axonal neuropathy type 3 |
An autosomal recessive cerebellar ataxia character..[+]
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SMARCB1-deficient renal medullary carcinoma |
kidney medullary carcinoma; medullary carcinoma of..
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A renal cell carcinoma that develops in the renal ..[+]
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schwannomatosis 1 |
A schwannomatosis that has_material_basis_in germl..[+]
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schwannomatosis 2 |
SWN2; LZTR1-related schwannomatosis; neurofibromat..
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A schwannomatosis that has_material_basis_in germl..[+]
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spinal neurofibromatosis |
SNF; familial spinal neurofibromatosis; FNSF
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A neurofibromatosis 1 characterized by bilateral n..[+]
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Schinzel Giedion syndrome |
An ectodermal dysplasia characterized by distincti..[+]
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Sifrim-Hitz-Weiss syndrome |
An autosomal dominant intellectual developmental d..[+]
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spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
SPATCCM
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An autosomal recessive intellectual developmental ..[+]
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syndromic X-linked intellectual developmental disorder bain type |
HNRNPH2-related neurodevelopmental disorder; HNRNP..
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A syndromic X-linked syndromic intellectual disabi..[+]
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spina bifida |
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A neural tube defect that is characterized by inco..[+]
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5 articles | 8 matches |
Schmid metaphyseal chondrodysplasia |
Schmid type metaphyseal dysplasia; Japanese type s..
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A metaphyseal dysplasia that results_in dwarfism a..[+]
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spondyloepimetaphyseal dysplasia |
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An osteochondrodysplasia that results_in abnormali..[+]
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spondyloepimetaphyseal dysplasia, Strudwick type |
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A spondyloepimetaphyseal dysplasia that has_materi..[+]
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spondyloepimetaphyseal dysplasia, Missouri type |
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A spondyloepimetaphyseal dysplasia that has_materi..[+]
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SOST-related sclerosing bone dysplasia |
van Buchem disease
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A hyperostosis that has_material_basis_in a mutati..[+]
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Stickler syndrome |
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A syndrome that is characterized by a distinctive ..[+]
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spina bifida occulta |
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A spina bifida that is characterized by minor spli..[+]
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Sengers syndrome |
mitochondrial DNA depletion syndrome 10; mitochond..
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A mitochondrial DNA depletion syndrome that is cha..[+]
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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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sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
SIFD
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A sideroblastic anemia characterized by onset of s..[+]
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syndromic X-linked mental retardation 35 |
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A syndromic X-linked intellectual disability that ..[+]
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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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spastic ataxia 8 |
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A spastic ataxia that is characterized by onset of..[+]
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schizophrenia 19 |
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A schizophrenia that has_material_basis_in heteroz..[+]
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spinocerebellar ataxia 44 |
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An autosomal dominant cerebellar ataxia that has_m..[+]
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spinocerebellar ataxia 45 |
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An autosomal dominant cerebellar ataxia that has_m..[+]
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spinocerebellar ataxia 46 |
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An autosomal dominant cerebellar ataxia that has_m..[+]
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short-rib thoracic dysplasia 18 with polydactyly |
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An asphyxiating thoracic dystrophy that has_materi..[+]
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short-rib thoracic dysplasia 19 with or without polydactyly |
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An asphyxiating thoracic dystrophy that has_materi..[+]
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Simpson-Golabi-Behmel syndrome type 2 |
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A syndrome that has_material_basis_in mutation in ..[+]
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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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Sweeney-Cox syndrome |
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A syndrome that is characterized by striking facia..[+]
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spondyloepimetaphyseal dysplasia, Genevieve-type |
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A spondyloepimetaphyseal dysplasia that is charact..[+]
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severe congenital neutropenia 1 |
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A severe congenital neutropenia that has_material_..[+]
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syndromic microphthalmia |
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A microphthalmia that occurs as part of a syndrome..[+]
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1 articles | 14 matches |
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 2 |
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A Stickler syndrome that has_material_basis_in het..[+]
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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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sinonasal undifferentiated carcinoma |
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A nasal cavity carcinoma that arises from the sino..[+]
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salivary gland mucinous adenocarcinoma |
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A salivary gland carcinoma that is characterized b..[+]
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