???pagination.result.count???
Disease |
Synonyms |
Description |
Articles |
Phenotypes |
sacrum chordoma
|
|
A spinal chordoma that is located_in the sacrum.
|
|
|
salivary gland carcinoma
|
|
A salivary gland cancer that has_material_basis_in.. [+]
A salivary gland cancer that has_material_basis_in epithelial cells.
[-]
|
|
|
spindle epithelial tumor with thymus-like differentiation tumor
|
SETTLE tumor
|
A thyroid carcinoma that has_material_basis_in com.. [+]
A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands.
[-]
|
|
|
striated muscle rhabdoid tumor
|
|
A muscle cancer that is located_in striated muscle.. [+]
A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm.
[-]
|
|
|
small intestine carcinoid neuroendocrine tumor
|
intestinal carcinoid tumour
|
A small intestine cancer that has_material_basis_i.. [+]
A small intestine cancer that has_material_basis_in cells of the neuroendocrine system.
[-]
|
|
|
sublingual gland adenoid cystic carcinoma
|
|
A sublingual gland cancer that is characterized by.. [+]
A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
[-]
|
|
|
spastic ataxia 2
|
|
n_a
|
|
|
spastic ataxia 3
|
|
n_a
|
|
|
spastic ataxia 4
|
|
n_a
|
|
|
spastic ataxia 5
|
|
n_a
|
|
|
spastic ataxia 7
|
|
A spastic ataxia that is characterized by poor vis.. [+]
A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs.
[-]
|
|
|
spastic ataxia
|
|
A hereditary ataxia that is characterized by early.. [+]
A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.
[-]
|
|
|
spinocerebellar ataxia type 1
|
|
n_a
|
|
|
spinocerebellar ataxia type 2
|
|
n_a
|
|
|
spinocerebellar ataxia type 6
|
|
An autosomal dominant cerebellar ataxia that is ch.. [+]
An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene.
[-]
|
|
|
spinocerebellar ataxia type 4
|
|
n_a
|
|
|
spinocerebellar ataxia type 7
|
|
n_a
|
|
|
spinocerebellar ataxia type 8
|
|
An autosomal dominant cerebellar ataxia that is ch.. [+]
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene.
[-]
|
|
|
spinocerebellar ataxia type 10
|
|
An autosomal dominant cerebellar ataxia that is ch.. [+]
An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene.
[-]
|
|
|
spinocerebellar ataxia type 11
|
|
n_a
|
|
|
spinocerebellar ataxia type 12
|
|
n_a
|
|
|
spinocerebellar ataxia type 13
|
|
n_a
|
|
|
spinocerebellar ataxia type 14
|
|
An autosomal dominant cerebellar ataxia that is ch.. [+]
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.
[-]
|
|
|
spinocerebellar ataxia type 15
|
|
n_a
|
|
|
spinocerebellar ataxia type 16
|
|
n_a
|
|
|
spinocerebellar ataxia type 17
|
|
n_a
|
|
|
spinocerebellar ataxia type 18
|
|
n_a
|
|
|
spinocerebellar ataxia type 19/22
|
|
n_a
|
|
|
spinocerebellar ataxia type 20
|
|
An autosomal dominant cerebellar ataxia that is ch.. [+]
An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.
[-]
|
|
|
spinocerebellar ataxia type 21
|
|
n_a
|
|
|
spinocerebellar ataxia type 23
|
|
An autosomal dominnant cerebellar ataxia that is c.. [+]
An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene.
[-]
|
|
|
spinocerebellar ataxia type 25
|
|
n_a
|
|
|
spinocerebellar ataxia type 26
|
|
n_a
|
|
|
spinocerebellar ataxia type 27
|
|
n_a
|
|
|
spinocerebellar ataxia type 28
|
|
n_a
|
|
|
spinocerebellar ataxia type 29
|
|
An autosomal dominant cerebellar ataxia that is ch.. [+]
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene.
[-]
|
|
|
spinocerebellar ataxia type 30
|
|
n_a
|
|
|
spinocerebellar ataxia type 31
|
|
n_a
|
|
|
spinocerebellar ataxia type 34
|
|
n_a
|
|
|
spinocerebellar ataxia type 35
|
|
n_a
|
|
|
spinocerebellar ataxia type 36
|
|
n_a
|
|
|
spinocerebellar ataxia type 37
|
|
n_a
|
|
|
spinocerebellar ataxia type 38
|
|
An autosomal dominant cerebellar ataxia that is ch.. [+]
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene.
[-]
|
|
|
spinocerebellar ataxia type 40
|
|
An autosomal dominant cerebellar ataxia that is ch.. [+]
An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.
[-]
|
|
|
specific developmental disorder
|
|
A developmental disorder of mental health that cat.. [+]
A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
[-]
|
|
|
sexual disorder
|
|
A disease of mental health that involves the impai.. [+]
A disease of mental health that involves the impairment in normal sexual functioning.
[-]
|
|
|
sideroblastic anemia 1
|
sideroblastic anaemia 1; XLSA; X-linked sideroblas..
[+]
sideroblastic anaemia 1; XLSA; X-linked sideroblastic anaemia; X-linked sideroblastic anemia
[-]
|
A sideoblastic anemia that is characterized by the.. [+]
A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.
[-]
|
|
|
sideroblastic anemia with spinocerebellar ataxia
|
ASAT
|
n_a
|
|
|
sensory organ benign neoplasm
|
|
A nervous system benign neoplasm that is located_i.. [+]
A nervous system benign neoplasm that is located_in a sensory organ.
[-]
|
|
|
sensory system cancer
|
|
A nervous system cancer that is located_in the sen.. [+]
A nervous system cancer that is located_in the sensory system.
[-]
|
|
|