Human Disease List
GET /api/human_diseases/?format=api&offset=4600&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4620&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4580&ordering=-identifier", "results": [ { "identifier": "Encephalopathy, neonatal severe, due to MECP2 mutations.", "acronym": "ENS-MECP2.", "accession": "DI-02038", "synonyms": null, "cross_references": "MeSH; D001927.", "definition": "A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, intellectual disability, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements. ", "keywords": null }, { "identifier": "Encephalopathy, familial, with neuroserpin inclusion bodies.", "acronym": "FENIB.", "accession": "DI-01567", "synonyms": "Familial encephalopathy with Collins bodies.; ", "cross_references": "MeSH; D020271.", "definition": "A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Encephalopathy due to defective mitochondrial and peroxisomal fission 2.", "acronym": "EMPF2.", "accession": "DI-04810", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy. ", "keywords": null }, { "identifier": "Encephalopathy due to defective mitochondrial and peroxisomal fission 1.", "acronym": "EMPF1.", "accession": "DI-03357", "synonyms": "EMPF.; Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission.; Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1.; ", "cross_references": "MeSH; D000015.", "definition": "A rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After birth, infants present in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic acidosis, microcephaly, deep- set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both frontal lobes associated with dysmyelination. ", "keywords": null }, { "identifier": "Encephalopathy, acute, infection-induced, 9.", "acronym": "IIAE9.", "accession": "DI-05581", "synonyms": null, "cross_references": "MeSH; D004684.", "definition": "An autosomal recessive disorder characterized by infancy-onset of episodic neurodevelopmental regression in association with infection- induced febrile illness. Clinical features include poor overall growth, seizures, myoclonic jerks, microcephaly, ataxia, and cerebellar atrophy. ", "keywords": null }, { "identifier": "Encephalopathy, acute, infection-induced, 8, herpes-specific.", "acronym": "IIAE8.", "accession": "DI-05212", "synonyms": "Herpes simplex encephalitis 6.; ", "cross_references": "MeSH; D018792.", "definition": "A rare, often fatal complication of herpes simplex infection, caused by virus spreading in the central nervous system. Disease manifestations include low-grade fever, severe headache, nausea, vomiting, and lethargy. Neurological features include confusion, acute memory disturbances, disorientation, behavioral changes, hemiparesis and seizures. ", "keywords": null }, { "identifier": "Encephalopathy, acute, infection-induced, 7, herpes-specific.", "acronym": "IIAE7.", "accession": "DI-04529", "synonyms": "Encephalopathy, acute, infection-induced, 7.; Herpes simplex encephalitis 7.; HSE7.; Infection-induced acute encephalopathy 7.; ", "cross_references": "MeSH; D020803.", "definition": "A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. ", "keywords": null }, { "identifier": "Encephalopathy, acute, infection-induced, 6, herpes-specific.", "acronym": "IIAE6.", "accession": "DI-03544", "synonyms": "Encephalopathy, acute, infection-induced, 6.; Herpes simplex encephalitis 4.; HSE4.; ", "cross_references": "MeSH; D020803.", "definition": "A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. ", "keywords": null }, { "identifier": "Encephalopathy, acute, infection-induced, 5, herpes-specific.", "acronym": "IIAE5.", "accession": "DI-03543", "synonyms": "Encephalopathy, acute, infection-induced, 5.; Herpes simplex encephalitis 3.; HSE3.; Infection-induced acute encephalopathy 5.; ", "cross_references": "MeSH; D020803.", "definition": "A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. ", "keywords": null }, { "identifier": "Encephalopathy, acute, infection-induced, 4.", "acronym": "IIAE4.", "accession": "DI-03272", "synonyms": "Encephalopathy acute infection-induced 4.; ", "cross_references": "MeSH; D018792.", "definition": "A severe neurologic complication of an infection. It manifests within days in otherwise healthy children after common viral infections, without evidence of viral infection of the brain or inflammatory cell infiltration. In affected children, high-grade fever is accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder. ", "keywords": null }, { "identifier": "Encephalopathy, acute, infection-induced, 3.", "acronym": "IIAE3.", "accession": "DI-01172", "synonyms": "ANE1.; Encephalopathy, acute necrotizing, 1.; Encephalopathy acute infection-induced 3.; ", "cross_references": "MeSH; D004684.", "definition": "A rapidly progressive encephalopathy manifesting in susceptible individuals with seizures and coma. It can occur within days in otherwise healthy children after common viral infections such as influenza and parainfluenza, without evidence of viral infection of the brain or inflammatory cell infiltration. Brain T2-weighted magnetic resonance imaging reveals characteristic symmetric lesions present in the thalami, pons and brainstem. ", "keywords": null }, { "identifier": "Encephalopathy, acute, infection-induced, 1, herpes-specific.", "acronym": "IIAE1.", "accession": "DI-02573", "synonyms": "Encephalopathy, acute, infection-induced, 1.; Herpes simplex encephalitis 1.; HSE1.; Infection-induced acute encephalopathy 1.; ", "cross_references": "MeSH; D020803.", "definition": "A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. ", "keywords": null }, { "identifier": "Encephalocraniocutaneous lipomatosis.", "acronym": "ECCL.", "accession": "DI-04665", "synonyms": null, "cross_references": "MeSH; D020752.", "definition": "A sporadically occurring, neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies. Clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, intracranial and intraspinal lipomas, and congenital abnormalities of the meninges. Seizures, spasticity, and intellectual disability can be present. ", "keywords": null }, { "identifier": "Encephalitis/encephalopathy, mild, with reversible myelin vacuolization.", "acronym": "MMERV.", "accession": "DI-05330", "synonyms": null, "cross_references": "MeSH; D004660.", "definition": "An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness. ", "keywords": null }, { "identifier": "Encephalitis, acute, infection (viral)-induced, 11.", "acronym": "IIAE11.", "accession": "DI-06170", "synonyms": null, "cross_references": "MeSH; D018792.", "definition": "An autosomal recessive disorder characterized by increased susceptibility to viral encephalitis affecting the brainstem and induced by neurotropic viruses, such as herpes simplex virus-1, influenza B virus or norovirus. ", "keywords": null }, { "identifier": "Encephalitis, acute, infection-induced, 12.", "acronym": "IIAE12.", "accession": "DI-06739", "synonyms": "ANE2.; Encephalopathy, acute, infection-induced, 12.; Encephalopathy, acute necrotizing 2.; ", "cross_references": "MeSH; D018792.", "definition": "An autosomal recessive disorder apparent in infancy or early childhood, and characterized by acute encephalopathy triggered by viral infections and febrile illness. Neurologic features of the acute episodes include seizures, hemiplegia, decreased consciousness, hypotonia, abnormal posturing, feeding problems, and respiratory insufficiency. Disease severity is variable, ranging from death to normal neurologic outcomes. ", "keywords": null }, { "identifier": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant.", "acronym": "EDMD7.", "accession": "DI-03705", "synonyms": "EMD7.; ", "cross_references": "MeSH; D020389.", "definition": "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. ", "keywords": "KW-1067:Emery-Dreifuss muscular dystrophy.; " }, { "identifier": "Emery-Dreifuss muscular dystrophy 6, X-linked.", "acronym": "EDMD6.", "accession": "DI-03833", "synonyms": "EMD6.; ", "cross_references": "MeSH; D020389.", "definition": "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. ", "keywords": "KW-1067:Emery-Dreifuss muscular dystrophy.; " }, { "identifier": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant.", "acronym": "EDMD5.", "accession": "DI-02520", "synonyms": "EMD5.; ", "cross_references": "MeSH; D020389.", "definition": "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. ", "keywords": "KW-1067:Emery-Dreifuss muscular dystrophy.; " }, { "identifier": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant.", "acronym": "EDMD4.", "accession": "DI-02519", "synonyms": "EMD4.; Emery-Dreifuss muscular dystrophy 4 with variable features.; ", "cross_references": "MeSH; D020389.", "definition": "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. ", "keywords": "KW-1067:Emery-Dreifuss muscular dystrophy.; " } ] }