{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2200&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2160&ordering=identifier","results":[{"identifier":"Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive.","acronym":"EBS5D.","accession":"DI-04492","synonyms":"EBSND.; Epidermolysis bullosa simplex with nail dystrophy.; ","cross_references":"MeSH; D016110.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5D patients have generalized skin blistering that heals with scarring and hyperpigmentation, and severe nail dystrophy. Mucous membranes, heart, and muscle are spared. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy.","acronym":"EBS6.","accession":"DI-04933","synonyms":"EBSSH.; Epidermolysis bullosa simplex, generalized, with scarring and hair loss.; Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, with or without cardiomyopathy.; ","cross_references":"MeSH; D016110.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS6 is an autosomal dominant disorder presenting at birth with extensive skin defects on the extremities, leaving behind hypopigmentation and atrophy with a whirled pattern. Cutaneous fragility and generalized blistering persist during childhood and decrease in adulthood. Adult patients have dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa simplex 7, with nephropathy and deafness.","acronym":"EBS7.","accession":"DI-00808","synonyms":"Nephropathy with pretibial epidermolysis bullosa and deafness.; NPEBD.; ","cross_references":"MeSH; D016108.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS7 is an autosomal recessive disorder characterized by the association of skin blistering, hereditary nephritis, sensorineural deafness, and beta- thalassemia minor. Skin blistering is present at birth, particularly in the tibial area but also scattered on other parts of the body. ","keywords":"KW-0209:Deafness.; KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolytic hyperkeratosis 1.","acronym":"EHK1.","accession":"DI-00207","synonyms":"BCIE.; BIE.; Bullous congenital ichthyosiform erythroderma.; Bullous erythroderma ichthyosiformis congenita of Brocq.; Bullous ichthyosiform erythroderma.; Epidermolytic hyperkeratosis late-onset.; ","cross_references":"MeSH; D017488.","definition":"A skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. EHK1 inheritance is autosomal dominant or autosomal recessive. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Epidermolytic hyperkeratosis 2A.","acronym":"EHK2A.","accession":"DI-06671","synonyms":null,"cross_references":"MeSH; D017488.","definition":"An autosomal dominant form of epidermolytic hyperkeratosis, a skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. EHK2 inheritance is autosomal dominant or autosomal recessive. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Epidermolytic hyperkeratosis 2B, autosomal recessive.","acronym":"EHK2B.","accession":"DI-06837","synonyms":null,"cross_references":"MeSH; D017488.","definition":"An autosomal recessive form of epidermolytic hyperkeratosis, a skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Epilepsy, childhood absence 2.","acronym":"ECA2.","accession":"DI-00297","synonyms":null,"cross_references":"MeSH; D004832.","definition":"A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, childhood absence 4.","acronym":"ECA4.","accession":"DI-00299","synonyms":null,"cross_references":"MeSH; D004832.","definition":"A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, childhood absence 5.","acronym":"ECA5.","accession":"DI-00300","synonyms":null,"cross_references":"MeSH; D004832.","definition":"A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, childhood absence 6.","acronym":"ECA6.","accession":"DI-03307","synonyms":null,"cross_references":"MeSH; D004832.","definition":"A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, early-onset, 1, vitamin B6-dependent.","acronym":"EPEO1.","accession":"DI-04934","synonyms":"Epilepsy, early-onset, vitamin B6-dependent.; EPVB6D.; ","cross_references":"MeSH; D012640.","definition":"An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, intellectual disability and learning disability. Seizures onset is in the first days or months of life. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, early-onset, 2, with or without developmental delay.","acronym":"EPEO2.","accession":"DI-05807","synonyms":null,"cross_references":"MeSH; D004830.","definition":"An autosomal dominant neurologic disorder characterized by early onset of generalized tonic-clonic seizures associated with sharp wave and sharp slow wave discharges on EEG. Some EPEO2 patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, early-onset, 3, with or without developmental delay.","acronym":"EPEO3.","accession":"DI-06741","synonyms":null,"cross_references":"MeSH; D004830.","definition":"An autosomal dominant neurologic disorder characterized by various types of seizures with onset in the first months or years of life. Many patients present with febrile seizures and later develop afebrile seizures. Some affected individuals have global developmental delay or regression, impaired intellectual development, poor or absent speech, and motor delay. Additional variable features include hypotonia, gait ataxia, behavioral abnormalities, and anomalies on brain imaging. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, early-onset, 4, vitamin B6-dependent.","acronym":"EPEO4.","accession":"DI-02236","synonyms":"PDE.; Pyridoxine-dependent epilepsy.; ","cross_references":"MeSH; D012640.","definition":"An autosomal recessive neurologic disorder ocharacterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. ","keywords":null},{"identifier":"Epilepsy, early-onset, 5, with or without developmental delay.","acronym":"EPEO5.","accession":"DI-03870","synonyms":"Cortical myoclonic tremor with epilepsy, familial, 5.; Epilepsy, familial adult myoclonic, 5.; FAME5.; Familial cortical myoclonic tremor with epilepsy 5.; FCMTE5.; ","cross_references":"MeSH; D004831.","definition":"An autosomal recessive neurologic disorder characterized by a combination of various seizure types with onset in the first decade of life or during adolescence. Most patients have developmental delay, impaired intellectual development, and behavioral abnormalities. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial adult myoclonic, 1.","acronym":"FAME1.","accession":"DI-05296","synonyms":"BAFME1.; Benign adult familial myoclonic epilepsy 1.; Cortical myoclonic tremor with epilepsy, familial, 1.; FCMTE1.; ","cross_references":"MeSH; D004831.","definition":"A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME1 inheritance is autosomal dominant. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial adult myoclonic, 2.","acronym":"FAME2.","accession":"DI-04469","synonyms":"ADCME.; BAFME2.; Benign adult familial myoclonic epilepsy 2.; Cortical myoclonic tremor with epilepsy, familial, 2.; Cortical myoclonus and epilepsy, autosomal dominant.; FCMTE2.; ","cross_references":"MeSH; D004831.","definition":"A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME2 inheritance is autosomal dominant. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial adult myoclonic, 3.","acronym":"FAME3.","accession":"DI-05690","synonyms":"Cortical myoclonic tremor with epilepsy, familial, 3.; FCMTE3.; ","cross_references":"MeSH; D004831.","definition":"A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME3 inheritance is autosomal dominant. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial adult myoclonic, 4.","acronym":"FAME4.","accession":"DI-05691","synonyms":"Cortical myoclonic tremor with epilepsy, familial, 4.; FCMTE4.; ","cross_references":"MeSH; D004831.","definition":"A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME4 inheritance is autosomal dominant. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial adult myoclonic, 6.","acronym":"FAME6.","accession":"DI-05297","synonyms":"BAFME6.; Benign adult familial myoclonic epilepsy 6.; Cortical myoclonic tremor with epilepsy, familial, 6.; FCMTE6.; ","cross_references":"MeSH; D004831.","definition":"A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME6 inheritance is autosomal dominant. ","keywords":"KW-0887:Epilepsy.; "}]}