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Disease	Synonyms	Description	Articles
developmental and epileptic encephalopathy 98	early infantile epileptic encephalopathy 98; DEE98.. [+] early infantile epileptic encephalopathy 98; DEE98 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. [-]
developmental and epileptic encephalopathy 99	early infantile epileptic encephalopathy 99; DEE99.. [+] early infantile epileptic encephalopathy 99; DEE99 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. [-]
developmental and epileptic encephalopathy 100	early infantile epileptic encephalopathy 100; DEE1.. [+] early infantile epileptic encephalopathy 100; DEE100 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. [-]
developmental and epileptic encephalopathy 101	early infantile epileptic encephalopathy 101; DEE1.. [+] early infantile epileptic encephalopathy 101; DEE101 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. [-]
developmental and epileptic encephalopathy 102	early infantile epileptic encephalopathy 102; DEE1.. [+] early infantile epileptic encephalopathy 102; DEE102 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21. [-]
developmental and epileptic encephalopathy 103	early infantile epileptic encephalopathy 103; DEE1.. [+] early infantile epileptic encephalopathy 103; DEE103 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. [-]
developmental and epileptic encephalopathy 104	early infantile epileptic encephalopathy 104; DEE1.. [+] early infantile epileptic encephalopathy 104; DEE104 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. [-]
developmental and epileptic encephalopathy 105	early infantile epileptic encephalopathy 105; DEE1.. [+] early infantile epileptic encephalopathy 105; DEE105 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. [-]
developmental and epileptic encephalopathy 106	early infantile epileptic encephalopathy 106; DEE1.. [+] early infantile epileptic encephalopathy 106; DEE106 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35. [-]
developmental and epileptic encephalopathy 107	early infantile epileptic encephalopathy 107; DEE1.. [+] early infantile epileptic encephalopathy 107; DEE107 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. [-]
developmental and epileptic encephalopathy 108	early infantile epileptic encephalopathy 108; DEE1.. [+] early infantile epileptic encephalopathy 108; DEE108 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13. [-]
developmental and epileptic encephalopathy 110	early infantile epileptic encephalopathy 110; DEE1.. [+] early infantile epileptic encephalopathy 110; DEE110 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. [-]
peeling skin syndrome 4	exfoliative ichthyosis; AREI; autosomal recessive .. [+] exfoliative ichthyosis; AREI; autosomal recessive exfoliative ichthyosis; ichthyosis bullosa of Siemens-like; ichthyosis exfoliativa; PSS4 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. [-]
peeling skin syndrome 5	exfoliative ichthyosis; autosomal recessive exfoli.. [+] exfoliative ichthyosis; autosomal recessive exfoliative ichthyosis; ichthyosis exfoliativa; PSS5 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. [-]
multiple congenital anomalies-hypotonia-seizures syndrome 2	early infantile epileptic encephalopathy 20; devel.. [+] early infantile epileptic encephalopathy 20; developmental and epileptic encephalopathy 20; glycosylphosphatidylinositol biosynthesis defect 4 [-]	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. [-]
bladder exstrophy-epispadias-cloacal exstrophy complex	exstrophy-epispadias complex	A physical disorder that is characterized as a spe..[+] A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. [-]	1 articles
developmental and epileptic encephalopathy 56	early infantile epileptic encephalopathy 56; DEE56.. [+] early infantile epileptic encephalopathy 56; DEE56 [-]	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. [-]
developmental and epileptic encephalopathy 55	early infantile epileptic encephalopathy 55; DEE55.. [+] early infantile epileptic encephalopathy 55; DEE55; glycosylphosphatidylinositol biosynthesis defect 14; GPIBD14 [-]	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. [-]
developmental and epileptic encephalopathy 58	early infantile epileptic encephalopathy 58; DEE58.. [+] early infantile epileptic encephalopathy 58; DEE58 [-]	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. [-]
familial erythrocytosis 5	ECYT5	A primary polycythemia characterized by autosomal ..[+] A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. [-]
developmental and epileptic encephalopathy 59	early infantile epileptic encephalopathy 59; DEE59.. [+] early infantile epileptic encephalopathy 59; DEE59 [-]	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. [-]
familial erythrocytosis 3	ECYT3	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. [-]
familial erythrocytosis 4	ECYT4	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. [-]
developmental and epileptic encephalopathy 39	epileptic encephalopathy with global cerebral demy.. [+] epileptic encephalopathy with global cerebral demyelination; early infantile epileptic encephalopathy 39; AGC1 deficiency [-]	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. [-]
developmental and epileptic encephalopathy 18	early infantile epileptic encephalopathy 18; DEE18.. [+] early infantile epileptic encephalopathy 18; DEE18 [-]	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. [-]
developmental and epileptic encephalopathy 23	Epilepsy-cortical blindness-intellectual disabilit.. [+] Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; early infantile epileptic encephalopathy 23; DEE23 [-]	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. [-]
developmental and epileptic encephalopathy 32	early infantile epileptic encephalopathy 32; DEE32.. [+] early infantile epileptic encephalopathy 32; DEE32 [-]	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. [-]
developmental and epileptic encephalopathy 50	early infantile epileptic encephalopathy 50; Carbo.. [+] early infantile epileptic encephalopathy 50; Carbohydrate deficient glycoprotein syndrome type Iz; CDG-Iz; Congenital disorder of glycosylation type 1z; DEE50; CDG syndrome type Iz [-]	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. [-]
developmental and epileptic encephalopathy 11	early infantile epileptic encephalopathy 11; DEE11.. [+] early infantile epileptic encephalopathy 11; DEE11 [-]	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	early infantile epileptic encephalopathy 6; DEE6; .. [+] early infantile epileptic encephalopathy 6; DEE6; developmental and epileptic encephalopathy 6; severe myoclonic epilepsy of infancy; DEE6A; developmental and epileptic encephalopathy 6A [-]	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	early infantile epileptic encephalopathy 44; DEE44.. [+] early infantile epileptic encephalopathy 44; DEE44 [-]	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	early infantile epileptic encephalopathy 63; DEE63.. [+] early infantile epileptic encephalopathy 63; DEE63 [-]	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	early infantile epileptic encephalopathy 45; DEE45.. [+] early infantile epileptic encephalopathy 45; DEE45 [-]	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	early infantile epileptic encephalopathy 60; DEE60.. [+] early infantile epileptic encephalopathy 60; DEE60 [-]	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	early infantile epileptic encephalopathy 61; DEE61.. [+] early infantile epileptic encephalopathy 61; DEE61 [-]	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	early infantile epileptic encephalopathy 4; DEE4	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	early infantile epileptic encephalopathy 31; DEE31.. [+] early infantile epileptic encephalopathy 31; DEE31; DEE31A; developmental and 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	early infantile epileptic encephalopathy 5; DEE5	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	early infantile epileptic encephalopathy 14; DEE14.. [+] early infantile epileptic encephalopathy 14; DEE14 [-]	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	early infantile epileptic encephalopathy 41; DEE41.. [+] early infantile epileptic encephalopathy 41; DEE41 [-]	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. [-]