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Disease	Synonyms	Description	Articles
primary coenzyme Q10 deficiency 5	encephalopathy-hypertrophic cardiomyopathy-renal t.. [+] encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome; coenzyme Q10 deficiency, primary, 5; COQ10D5 [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. [-]
X-linked Emery-Dreifuss muscular dystrophy 1	Emery-Dreifuss muscular dystrophy 1, X-linked; EMD.. [+] Emery-Dreifuss muscular dystrophy 1, X-linked; EMD1; EDMD1; humeroperoneal neuromuscular disease; muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; scapuloperoneal syndrome, X-linked [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 2	Emery-Dreifuss muscular dystrophy, autosomal domin.. [+] Emery-Dreifuss muscular dystrophy, autosomal dominant; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; EMD2; EDMD2; autosomal dominant limb-girdle muscular dystrophy type 1B; Hauptmann-Thannhauser muscular dystrophy; muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant; scapuloilioperoneal atrophy with cardiopathy [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. [-]
autosomal recessive Emery-Dreifuss muscular dystrophy 3	Emery-Dreifuss muscular dystrophy 3, autosomal rec.. [+] Emery-Dreifuss muscular dystrophy 3, autosomal recessive; EDMD3 [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 4	Emery-Dreifuss muscular dystrophy 4, autosomal dom.. [+] Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Emery-Dreifuss muscular dystrophy 4 with variable features; EDMD4 [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 5	Emery-Dreifuss muscular dystrophy 5, autosomal dom.. [+] Emery-Dreifuss muscular dystrophy 5, autosomal dominant; EDMD5 [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. [-]
X-linked Emery-Dreifuss muscular dystrophy 6	Emery-Dreifuss muscular dystrophy 6, X-linked; EDM.. [+] Emery-Dreifuss muscular dystrophy 6, X-linked; EDMD6; myopathy, X-linked, with postural muscle atrophy; XMPMA [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 7	Emery-Dreifuss muscular dystrophy 7, autosomal dom.. [+] Emery-Dreifuss muscular dystrophy 7, autosomal dominant; EDMD7 [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. [-]
congenital disorder of glycosylation type IIm	epileptic encephalopathy, early infantile, 22; con.. [+] epileptic encephalopathy, early infantile, 22; congenital disorder of glycosylation type 2m; developmental and epileptic encephalopathy 22; SLC35A2-CDG [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. [-]
multiple epiphyseal dysplasia 2	EDM2	A multiple epiphyseal dysplasia due to collagen 9 ..[+] A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. [-]
multiple epiphyseal dysplasia 5	EDM5; BHMED; bilateral hereditary microepiphyseal .. [+] EDM5; BHMED; bilateral hereditary microepiphyseal dysplasia; multiple epiphyseal dysplasia MATN3-related [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. [-]
multiple epiphyseal dysplasia 4	EDM4; MED4; multiple epiphyseal dysplasia with clu.. [+] EDM4; MED4; multiple epiphyseal dysplasia with clubfoot; Polyepiphyseal dysplasia type 4; rMED; multiple epiphyseal dysplasia with bilateral patellae [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. [-]
multiple epiphyseal dysplasia 6	EDM6	A multiple epiphyseal dysplasia due to collagen 9 ..[+] A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. [-]
multiple epiphyseal dysplasia 7	EDM7	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. [-]
multiple epiphyseal dysplasia 1	EDM1; MED1; multiple epiphyseal dysplasia COMP-rel.. [+] EDM1; MED1; multiple epiphyseal dysplasia COMP-related; polyepiphyseal dysplasia type 1 [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. [-]
multiple epiphyseal dysplasia 3	EDM3; multiple epiphyseal dysplasia 3 with or with.. [+] EDM3; multiple epiphyseal dysplasia 3 with or without myopathy [-]	A multiple epiphyseal dysplasia due to collagen 9 ..[+] A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. [-]
Miura type epiphyseal chondrodysplasia	ECDM; tall stature-scoliosis-macrodactyly of the g.. [+] ECDM; tall stature-scoliosis-macrodactyly of the great toes syndrome; tall stature-scoliosis-macrodactyly of the halluces syndrome [-]	A bone developmental disease characterized by tall..[+] A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. [-]
systemic Epstein-Barr virus positive T-cell lymphoma of childhood	EBV-positive T-cell lymphoproliferative disorder o.. [+] EBV-positive T-cell lymphoproliferative disorder of childhood; systemic EBV-positive T-cell lymphoma of childhood [-]	A childhood lymphoma that is characterized by mono..[+] A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood. [-]
developmental and epileptic encephalopathy 64	early infantile epileptic encephalopathy 64; DEE64.. [+] early infantile epileptic encephalopathy 64; DEE64 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. [-]
developmental and epileptic encephalopathy 85	early infantile epileptic encephalopathy 85; DEE85.. [+] early infantile epileptic encephalopathy 85; DEE85 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. [-]
developmental and epileptic encephalopathy 95	early infantile epileptic encephalopathy 95; DEE95.. [+] early infantile epileptic encephalopathy 95; DEE95 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. [-]
developmental and epileptic encephalopathy 97	early infantile epileptic encephalopathy 97; DEE97.. [+] early infantile epileptic encephalopathy 97; DEE97 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. [-]
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. [-]
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	ECHS1D	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. [-]
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 8	early infantile epileptic encephalopathy 8; EIEE8; .. [+] EIEE8; early infantile epileptic encephalopathy 8; DEE8 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. [-]
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 57	early infantile epileptic encephalopathy 57; DEE57.. [+] early infantile epileptic encephalopathy 57; DEE57 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. [-]
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. [-]
nephrotic syndrome type 3	early onset nephrotic syndrome type 3	A familial nephrotic syndrome characterized by ear..[+] A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. [-]

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