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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
dystransthyretinemic hyperthyroxinemia
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A hyperthyroxinemia that is characterized by an in.. [+]
A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.
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developmental and epileptic encephalopathy 56
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DEE56; early infantile epileptic encephalopathy 56..
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DEE56; early infantile epileptic encephalopathy 56
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11.
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developmental and epileptic encephalopathy 55
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DEE55; early infantile epileptic encephalopathy 55..
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DEE55; early infantile epileptic encephalopathy 55; glycosylphosphatidylinositol biosynthesis defect 14; GPIBD14
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.
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developmental and epileptic encephalopathy 58
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DEE58; early infantile epileptic encephalopathy 58..
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DEE58; early infantile epileptic encephalopathy 58
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21.
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developmental and epileptic encephalopathy 59
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DEE59; early infantile epileptic encephalopathy 59..
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DEE59; early infantile epileptic encephalopathy 59
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.
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developmental and epileptic encephalopathy 39
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AGC1 deficiency; early infantile epileptic encepha..
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AGC1 deficiency; early infantile epileptic encephalopathy 39; epileptic encephalopathy with global cerebral demyelination
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.
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developmental and epileptic encephalopathy 18
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DEE18; early infantile epileptic encephalopathy 18..
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DEE18; early infantile epileptic encephalopathy 18
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.
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developmental and epileptic encephalopathy 23
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DEE23; early infantile epileptic encephalopathy 23..
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DEE23; early infantile epileptic encephalopathy 23; Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
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developmental and epileptic encephalopathy 32
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DEE32; early infantile epileptic encephalopathy 32..
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DEE32; early infantile epileptic encephalopathy 32
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13.
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developmental and epileptic encephalopathy 54
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DEE54; early infantile epileptic encephalopathy 54..
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DEE54; early infantile epileptic encephalopathy 54
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.
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developmental and epileptic encephalopathy 50
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DEE50; Carbohydrate deficient glycoprotein syndrom..
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DEE50; Carbohydrate deficient glycoprotein syndrome type Iz; CDG-Iz; Congenital disorder of glycosylation type 1z; early infantile epileptic encephalopathy 50; CDG syndrome type Iz
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23.
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developmental and epileptic encephalopathy 11
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DEE11; early infantile epileptic encephalopathy 11..
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DEE11; early infantile epileptic encephalopathy 11
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.
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Dravet syndrome
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developmental and epileptic encephalopathy 6A; DEE..
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developmental and epileptic encephalopathy 6A; DEE6A; developmental and epileptic encephalopathy 6; DEE6; early infantile epileptic encephalopathy 6; severe myoclonic epilepsy of infancy
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
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developmental and epileptic encephalopathy 44
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DEE44; early infantile epileptic encephalopathy 44..
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DEE44; early infantile epileptic encephalopathy 44
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.
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developmental and epileptic encephalopathy 63
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DEE63; early infantile epileptic encephalopathy 63..
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DEE63; early infantile epileptic encephalopathy 63
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16.
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developmental and epileptic encephalopathy 45
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DEE45; early infantile epileptic encephalopathy 45..
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DEE45; early infantile epileptic encephalopathy 45
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.
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developmental and epileptic encephalopathy 60
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DEE60; early infantile epileptic encephalopathy 60..
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DEE60; early infantile epileptic encephalopathy 60
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.
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developmental and epileptic encephalopathy 61
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DEE61; early infantile epileptic encephalopathy 61..
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DEE61; early infantile epileptic encephalopathy 61
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A developmental and epileptic encephalopathy that .. [+]
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21.
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developmental and epileptic encephalopathy 4
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DEE4; early infantile epileptic encephalopathy 4
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.
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developmental and epileptic encephalopathy 31A
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developmental and epileptic encephalopathy 31; DEE..
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developmental and epileptic encephalopathy 31; DEE31A; DEE31; early infantile epileptic encephalopathy 31
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.
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developmental and epileptic encephalopathy 5
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DEE5; early infantile epileptic encephalopathy 5
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
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developmental and epileptic encephalopathy 14
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DEE14; early infantile epileptic encephalopathy 14..
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DEE14; early infantile epileptic encephalopathy 14
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
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developmental and epileptic encephalopathy 41
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DEE41; early infantile epileptic encephalopathy 41..
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DEE41; early infantile epileptic encephalopathy 41
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.
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developmental and epileptic encephalopathy 21
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DEE21; early infantile epileptic encephalopathy 21..
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DEE21; early infantile epileptic encephalopathy 21
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.
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developmental and epileptic encephalopathy 27
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DEE27; early infantile epileptic encephalopathy 27..
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DEE27; early infantile epileptic encephalopathy 27
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12.
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developmental and epileptic encephalopathy 66
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DEE66; early infantile epileptic encephalopathy 66..
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DEE66; early infantile epileptic encephalopathy 66
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32.
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developmental and epileptic encephalopathy 48
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DEE48; early infantile epileptic encephalopathy 48..
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DEE48; early infantile epileptic encephalopathy 48
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.
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developmental and epileptic encephalopathy 16
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DEE16; early infantile epileptic encephalopathy 16..
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DEE16; early infantile epileptic encephalopathy 16
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
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developmental and epileptic encephalopathy 17
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DEE17; early infantile epileptic encephalopathy 17..
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DEE17; early infantile epileptic encephalopathy 17
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.
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developmental and epileptic encephalopathy 25
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DEE25; developmental and epileptic encephalopathy ..
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DEE25; developmental and epileptic encephalopathy 25, with amelogenesis imperfecta; early infantile epileptic encephalopathy 25
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.
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developmental and epileptic encephalopathy 52
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DEE52; early infantile epileptic encephalopathy 52..
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DEE52; early infantile epileptic encephalopathy 52
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.
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developmental and epileptic encephalopathy 35
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DEE35; early infantile epileptic encephalopathy 35..
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DEE35; early infantile epileptic encephalopathy 35; ITPA-related encephalopathy
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.
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developmental and epileptic encephalopathy 12
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DEE12; early infantile epileptic encephalopathy 12..
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DEE12; early infantile epileptic encephalopathy 12
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.
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developmental and epileptic encephalopathy 34
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DEE34; early infantile epileptic encephalopathy 34..
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DEE34; early infantile epileptic encephalopathy 34
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.
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developmental and epileptic encephalopathy 26
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DEE26; early infantile epileptic encephalopathy 26..
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DEE26; early infantile epileptic encephalopathy 26
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.
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developmental and epileptic encephalopathy 7
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early infantile epileptic encephalopathy 7; KCNQ2-..
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early infantile epileptic encephalopathy 7; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.
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developmental and epileptic encephalopathy 53
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DEE53; early infantile epileptic encephalopathy 53..
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DEE53; early infantile epileptic encephalopathy 53
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.
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developmental and epileptic encephalopathy 2
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DEE2; EIEE2; X-linked infantile spasm syndrome 2; ..
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DEE2; EIEE2; X-linked infantile spasm syndrome 2; early infantile epileptic encephalopathy 2
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.
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developmental and epileptic encephalopathy 36
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congenital disorder of glycosylation, type Is; ear..
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congenital disorder of glycosylation, type Is; early infantile epileptic encephalopathy 36
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
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developmental and epileptic encephalopathy 92
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.
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dedifferentiated liposarcoma
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A liposarcoma that is characterized as a high-grad.. [+]
A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells.
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developmental cardiac valvular defect
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A physical disorder that has_material_basis_in hom.. [+]
A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26.
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diaphyseal medullary stenosis with malignant fibrous histiocytoma
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diaphyseal medullary stenosis-malignant fibrous hi..
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diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; bone dysplasia-medullary fibrosarcoma syndrome; Hardcastle syndrome
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An osteochondrodysplasia that is characterized by .. [+]
An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.
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diffuse midline glioma, H3 K27M-mutant
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diffuse intrinsic pontine glioma
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A histone mutated tumor that is characterized by t.. [+]
A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.
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developmental and epileptic encephalopathy 82
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DEE82; early infantile epileptic encephalopathy 82..
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DEE82; early infantile epileptic encephalopathy 82
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.
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diffuse gastric cancer
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A stomach cancer that is characterized by developm.. [+]
A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.
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delta beta-thalassemia
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A beta thalassemia that is characterized by decrea.. [+]
A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.
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diffuse glioma, H3 G34 mutant
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A histone mutated tumor that has_material_basis_in.. [+]
A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein.
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dialysis-related amyloidosis
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dialysis-related beta2-microglobulin amyloidosis; ..
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dialysis-related beta2-microglobulin amyloidosis; ABeta2M amyloidosis; Amyloidosis Beta2M; Aβ2M amyloidosis; Beta2-microglobulinic amyloidosis
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An amyloidosis that is characterized by the deposi.. [+]
An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy.
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diffuse large B-cell lymphoma activated B-cell type
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DLBCL ABC type
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A diffuse large B-cell lymphoma that is characteri.. [+]
A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes.
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