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Disease	Synonyms	Description
multiple acyl-CoA dehydrogenase deficiency	electron transfer flavoprotein ubiquinone oxidored.. [+] electron transfer flavoprotein ubiquinone oxidoreductase deficiency; electron transfer flavoprotein deficiency; glutaric acidemia type 2; glutaric aciduria type 2; MAD deficiency; MADD [-]	An inherited metabolic disorder characterized by t..[+] An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has material basis in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. [-]
autosomal recessive early-onset Parkinson disease 6	early-onset Parkinson disease 6	A Parkinson's disease that has_material_basis_in m..[+] A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. [-]
orofaciodigital syndrome VIII	Edwards syndrome; OFD8	n_a
corneal endothelial dystrophy	endothelial dystrophy	n_a
familial erythrocytosis 2	ECYT2; autosomal recessive benign erythrocytosis; .. [+] ECYT2; autosomal recessive benign erythrocytosis; Chuvash erythromatosis; Chuvash type polycythemia; familial erythrocytosis 2; Chuvash polycythemia [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. [-]
childhood onset epileptic encephalopathy	EEOC	An idiopathic generalized epilepsy characterized b..[+] An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. [-]
MEDNIK syndrome	erythrokeratodermia variabilis, Kamouraska type; e.. [+] erythrokeratodermia variabilis, Kamouraska type; erythrokeratodermia variabilis 3; mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia [-]	A syndrome characterized by mental retardation, en..[+] A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. [-]
familial erythrocytosis 1	ECYT1; autosomal dominant benign erythrocytosis; p.. [+] ECYT1; autosomal dominant benign erythrocytosis; primary familial and congenital polycythemia [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. [-]
autosomal dominant nocturnal frontal lobe epilepsy	ENFL	A frontal lobe epilepsy that is characterized by a..[+] A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. [-]
autosomal dominant nocturnal frontal lobe epilepsy 1	ENFL1; nocturnal frontal lobe epilepsy 1	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. [-]
autosomal dominant nocturnal frontal lobe epilepsy 2	ENFL2; nocturnal frontal lobe epilepsy 2	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. [-]
autosomal dominant nocturnal frontal lobe epilepsy 3	ENFL3; nocturnal frontal lobe epilepsy 3	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 4	ENFL4; nocturnal frontal lobe epilepsy 4	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 5	ENFL5; nocturnal frontal lobe epilepsy 5	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. [-]
junctional epidermolysis bullosa with pyloric atresia	epidermolysis bullosa junctionalis with pyloric at.. [+] epidermolysis bullosa junctionalis with pyloric atresia; Carmi syndrome; JEB-PA; junctional epidermolysis bullosa-pyloric atresia syndrome [-]	A junctional epidermolysis bullosa characterized b..[+] A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. [-]
junctional epidermolysis bullosa Herlitz type	epidermolysis bullosa letalis; Herlitz type epider.. [+] epidermolysis bullosa letalis; Herlitz type epidermolysis bullosa junctionalis; Herlitz-Pearson-type epidermolysis bullosa; JEB-H; JEB-Herlitz type; junctional epidermolysis bullosa generalisata gravis; junctional epidermolysis bullosa, Herlitz-Pearson type [-]	A junctional epidermolysis bullosa characterized b..[+] A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. [-]
basal laminar drusen	early adult-onset grouped drusen; cuticular drusen.. [+] early adult-onset grouped drusen; cuticular drusen; drusen of bruch membrane [-]	A retinal drusen characterized by yellow-white dep..[+] A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. [-]
familial temporal lobe epilepsy 1	ETL1; partial epilepsy with auditory features	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. [-]
familial temporal lobe epilepsy 6	ETL6	A temporal lobe epilepsy that has_material_basis_i..[+] A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. [-]
familial temporal lobe epilepsy 7	ETL7	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. [-]
familial temporal lobe epilepsy 5	ETL5	A temporal lobe epilepsy that has_material_basis_i..[+] A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. [-]
familial temporal lobe epilepsy 4	EPOLM; ETL4; occipitotemporal lobe epilepsy and mi.. [+] ETL4; EPOLM; occipitotemporal lobe epilepsy and migraine with aura [-]	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. [-]
familial temporal lobe epilepsy 8	ETL8	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. [-]
familial temporal lobe epilepsy 2	ETL2	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. [-]
congenital malabsorptive diarrhea 4	enteric anendocrinosis; congenital malabsorptive d.. [+] enteric anendocrinosis; congenital malabsorptive diarrhea due to paucity of enteroendocrine cells [-]	A congenital diarrhea characterized by chronic unr..[+] A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. [-]
Norrie disease	Episkopi blindness; atrophia bulborum hereditaria; .. [+] Episkopi blindness; atrophia bulborum hereditaria; Norrie-Warburg disease [-]	A X-linked disease characterized by X-linked reces..[+] A X-linked disease characterized by X-linked recessive inheritance of degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients that has_material_basis_in mutation in the NDP gene on chromosome Xp11. [-]
prune belly syndrome	Eagle-Barret syndrome; abdominal muscle deficiency.. [+] Eagle-Barret syndrome; abdominal muscle deficiency syndrome; Obrisnksy syndrome [-]	A syndrome that is characterized by megacystis wit..[+] A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. [-]
Revesz syndrome	exudative retinopathy with bone marrow failure; DK.. [+] exudative retinopathy with bone marrow failure; DKCA5; Dyskeratosis Congenita, Autosomal Dominant 5 [-]	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. [-]
familial hyperinsulinemic hypoglycemia 7	exercise-induced hyperinsulinism; exercise-induced.. [+] exercise-induced hyperinsulinism; exercise-induced hyperinsulinemic hypoglycemia; EIHI; HHF7; hyperinsulinism due to monocarboxylate transporter 1 deficiency; hyperinsulinism due to SLC16A1 deficiency [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. [-]
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. [-]
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 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 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. [-]
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 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 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 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. [-]
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. [-]
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 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. [-]
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. [-]
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 54	early infantile epileptic encephalopathy 54; DEE54.. [+] early infantile epileptic encephalopathy 54; DEE54 [-]	A developmental and epileptic encephalopathy chrar..[+] A developmental and epileptic encephalopathy chraracterized 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. [-]
developmental and epileptic encephalopathy 62	early infantile epileptic encephalopathy 62; DEE62.. [+] early infantile epileptic encephalopathy 62; DEE62 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A 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 19	early infantile epileptic encephalopathy 19; DEE19.. [+] early infantile epileptic encephalopathy 19; DEE19 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. [-]
developmental and epileptic encephalopathy 51	early infantile epileptic encephalopathy 51; DEE51.. [+] early infantile epileptic encephalopathy 51; DEE51 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. [-]
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 3	early infantile epileptic encephalopathy 3	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. [-]

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