Human Disease List
GET /api/human_diseases/?format=api&offset=4520&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4540&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4500&ordering=-identifier", "results": [ { "identifier": "Epilepsy, familial focal, with variable foci 2.", "acronym": "FFEVF2.", "accession": "DI-04832", "synonyms": null, "cross_references": "MeSH; D004828.", "definition": "An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Epilepsy, familial focal, with variable foci 1.", "acronym": "FFEVF1.", "accession": "DI-03794", "synonyms": "FFEVF.; FPEVF.; Partial epilepsy with variable foci.; ", "cross_references": "MeSH; D004828.", "definition": "An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Epilepsy, familial adult myoclonic, 7.", "acronym": "FAME7.", "accession": "DI-05298", "synonyms": "BAFME7.; Benign adult familial myoclonic epilepsy 27.; Cortical myoclonic tremor with epilepsy, familial, 7.; FCMTE7.; ", "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. FAME7 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.; " }, { "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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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 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 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": "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": "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 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.; " } ] }