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Disease	Synonyms	Description
developmental and epileptic encephalopathy 11	DEE11; early infantile epileptic encephalopathy 11.. [+] DEE11; early infantile epileptic encephalopathy 11 [-]	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. [-]
Dravet syndrome	developmental and epileptic encephalopathy 6A; DEE.. [+] developmental and epileptic encephalopathy 6A; DEE6A; developmental and epileptic encephalopathy 6; DEE6; early infantile epileptic encephalopathy 6; severe myoclonic epilepsy of infancy [-]	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. [-]
developmental and epileptic encephalopathy 44	DEE44; early infantile epileptic encephalopathy 44.. [+] DEE44; early infantile epileptic encephalopathy 44 [-]	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. [-]
developmental and epileptic encephalopathy 63	DEE63; early infantile epileptic encephalopathy 63.. [+] DEE63; early infantile epileptic encephalopathy 63 [-]	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. [-]
developmental and epileptic encephalopathy 45	DEE45; early infantile epileptic encephalopathy 45.. [+] DEE45; early infantile epileptic encephalopathy 45 [-]	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. [-]
developmental and epileptic encephalopathy 60	DEE60; early infantile epileptic encephalopathy 60.. [+] DEE60; early infantile epileptic encephalopathy 60 [-]	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. [-]
developmental and epileptic encephalopathy 61	DEE61; early infantile epileptic encephalopathy 61.. [+] DEE61; early infantile epileptic encephalopathy 61 [-]	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. [-]
developmental and epileptic encephalopathy 4	DEE4; early infantile epileptic encephalopathy 4	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. [-]
developmental and epileptic encephalopathy 31A	developmental and epileptic encephalopathy 31; DEE.. [+] developmental and epileptic encephalopathy 31; DEE31A; DEE31; early infantile epileptic encephalopathy 31 [-]	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. [-]
developmental and epileptic encephalopathy 5	DEE5; early infantile epileptic encephalopathy 5	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. [-]
developmental and epileptic encephalopathy 14	DEE14; early infantile epileptic encephalopathy 14.. [+] DEE14; early infantile epileptic encephalopathy 14 [-]	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. [-]
developmental and epileptic encephalopathy 41	DEE41; early infantile epileptic encephalopathy 41.. [+] DEE41; early infantile epileptic encephalopathy 41 [-]	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. [-]
developmental and epileptic encephalopathy 21	DEE21; early infantile epileptic encephalopathy 21.. [+] DEE21; early infantile epileptic encephalopathy 21 [-]	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. [-]
developmental and epileptic encephalopathy 27	DEE27; early infantile epileptic encephalopathy 27.. [+] DEE27; early infantile epileptic encephalopathy 27 [-]	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. [-]
developmental and epileptic encephalopathy 66	DEE66; early infantile epileptic encephalopathy 66.. [+] DEE66; early infantile epileptic encephalopathy 66 [-]	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. [-]
developmental and epileptic encephalopathy 48	DEE48; early infantile epileptic encephalopathy 48.. [+] DEE48; early infantile epileptic encephalopathy 48 [-]	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. [-]
developmental and epileptic encephalopathy 16	DEE16; early infantile epileptic encephalopathy 16.. [+] DEE16; early infantile epileptic encephalopathy 16 [-]	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. [-]
developmental and epileptic encephalopathy 17	DEE17; early infantile epileptic encephalopathy 17.. [+] DEE17; early infantile epileptic encephalopathy 17 [-]	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. [-]
developmental and epileptic encephalopathy 25	DEE25; developmental and epileptic encephalopathy .. [+] DEE25; developmental and epileptic encephalopathy 25, with amelogenesis imperfecta; early infantile epileptic encephalopathy 25 [-]	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. [-]
developmental and epileptic encephalopathy 52	DEE52; early infantile epileptic encephalopathy 52.. [+] DEE52; early infantile epileptic encephalopathy 52 [-]	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. [-]
developmental and epileptic encephalopathy 35	DEE35; early infantile epileptic encephalopathy 35.. [+] DEE35; early infantile epileptic encephalopathy 35; ITPA-related encephalopathy [-]	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. [-]
developmental and epileptic encephalopathy 12	DEE12; early infantile epileptic encephalopathy 12.. [+] DEE12; early infantile epileptic encephalopathy 12 [-]	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. [-]
developmental and epileptic encephalopathy 34	DEE34; early infantile epileptic encephalopathy 34.. [+] DEE34; early infantile epileptic encephalopathy 34 [-]	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. [-]
developmental and epileptic encephalopathy 26	DEE26; early infantile epileptic encephalopathy 26.. [+] DEE26; early infantile epileptic encephalopathy 26 [-]	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. [-]
developmental and epileptic encephalopathy 7	early infantile epileptic encephalopathy 7; KCNQ2-.. [+] early infantile epileptic encephalopathy 7; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy [-]	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. [-]
developmental and epileptic encephalopathy 53	DEE53; early infantile epileptic encephalopathy 53.. [+] DEE53; early infantile epileptic encephalopathy 53 [-]	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. [-]
developmental and epileptic encephalopathy 2	DEE2; EIEE2; X-linked infantile spasm syndrome 2; .. [+] DEE2; EIEE2; X-linked infantile spasm syndrome 2; early infantile epileptic encephalopathy 2 [-]	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. [-]
developmental and epileptic encephalopathy 36	congenital disorder of glycosylation, type Is; ear.. [+] congenital disorder of glycosylation, type Is; early infantile epileptic encephalopathy 36 [-]	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. [-]
developmental and epileptic encephalopathy 92		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. [-]
dedifferentiated liposarcoma		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. [-]
developmental cardiac valvular defect		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. [-]
diaphyseal medullary stenosis with malignant fibrous histiocytoma	diaphyseal medullary stenosis-malignant fibrous hi.. [+] diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; bone dysplasia-medullary fibrosarcoma syndrome; Hardcastle syndrome [-]	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. [-]
diffuse midline glioma, H3 K27M-mutant	diffuse intrinsic pontine glioma	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. [-]
developmental and epileptic encephalopathy 82	DEE82; early infantile epileptic encephalopathy 82.. [+] DEE82; early infantile epileptic encephalopathy 82 [-]	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. [-]
diffuse gastric cancer		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. [-]
delta beta-thalassemia		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. [-]
diffuse glioma, H3 G34 mutant		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. [-]
dialysis-related amyloidosis	dialysis-related beta2-microglobulin amyloidosis; .. [+] dialysis-related beta2-microglobulin amyloidosis; ABeta2M amyloidosis; Amyloidosis Beta2M; Aβ2M amyloidosis; Beta2-microglobulinic amyloidosis [-]	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. [-]
diffuse large B-cell lymphoma activated B-cell type	DLBCL ABC type	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. [-]
dipsogenic diabetes insipidus		A diabetes insipidus that is characterized by exce..[+] A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability. [-]