{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1800&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1760&ordering=synonyms","results":[{"identifier":"Congenital myopathy 10A, severe variant.","acronym":"CMYP10A.","accession":"DI-03358","synonyms":"EMARDD.; Myopathy, early-onset, areflexia, respiratory distress, and dysphagia.; ","cross_references":"MeSH; D009135.","definition":"An autosomal recessive congenital myopathy characterized by onset at birth, or early in infancy, of respiratory distress caused by diaphragmatic weakness. Additional features are dysphagia resulting in poor feeding, failure to thrive, poor head control, facial weakness, cleft palate, contractures and scoliosis. Affected individuals become ventilator-dependent, and most require feeding by gastrostomy. The disorder results in severe muscle weakness and most patients never achieve walking. Death from respiratory failure in childhood occurs in about half of patients. Muscle biopsies from affected individuals show myopathic changes, replacement of myofibers with fatty tissue, small and incompletely fused muscle fibers, and variation in fiber size. Short regions of sarcomeric disorganization with few or no mitochondria (minicores) have been observed in some cases. ","keywords":null},{"identifier":"Lymphedema, primary, with myelodysplasia.","acronym":"LMPM.","accession":"DI-03299","synonyms":"Emberger syndrome.; ","cross_references":"MeSH; D008209.","definition":"A chronic disabling condition characterized by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with lymphedema suffer from recurrent local infections, and physical impairment. ","keywords":null},{"identifier":"Testicular germ cell tumor.","acronym":"TGCT.","accession":"DI-02749","synonyms":"Embryonal cell carcinoma.; Endodermal sinus tumor.; Male germ cell tumor.; MGCT.; Nonseminomatous germ cell tumors.; Seminoma.; Spermatocytic seminoma.; Teratoma testicular.; ","cross_references":"MeSH; D018239.","definition":"A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. ","keywords":null},{"identifier":"Emery-Dreifuss muscular dystrophy 1, X-linked.","acronym":"EDMD1.","accession":"DI-02444","synonyms":"EMD1.; Humeroperoneal neuromuscular disease.; Muscular dystrophy tardive Dreifuss-Emery type with contractures.; Scapuloperoneal syndrome X-linked.; X-EDMD.; X-linked Emery-Dreifuss muscular dystrophy.; ","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.; "},{"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 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 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 3, autosomal recessive.","acronym":"EDMD3.","accession":"DI-03418","synonyms":"Emery-Dreifuss muscular dystrophy atypical autosomal recessive.; ","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":"Beckwith-Wiedemann syndrome.","acronym":"BWS.","accession":"DI-00179","synonyms":"EMG syndrome.; Exomphalos-macroglossia-gigantism syndrome.; ","cross_references":"MeSH; D001506.","definition":"A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. ","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":"Mitochondrial DNA depletion syndrome 8A.","acronym":"MTDPS8A.","accession":"DI-01522","synonyms":"Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy.; Mitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy.; Mitochondrial DNA depletion syndrome encephalomyopathic with renal tubulopathy autosomal recessive.; ","cross_references":"MeSH; D017237.","definition":"A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial DNA depletion syndrome 5.","acronym":"MTDPS5.","accession":"DI-01523","synonyms":"Encephalomyopathic mitochondrial DNA depletion syndrome with or without methylmalonic aciduria.; Mitochondrial DNA depletion syndrome 5 encephalomyopathic with or without methylmalonic aciduria.; Mitochondrial DNA depletion syndrome encephalomyopathic form with or without methylmalonic aciduria autosomal recessive SUCLA2-related.; ","cross_references":"MeSH; D017237.","definition":"A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 6.","acronym":"COXPD6.","accession":"DI-02854","synonyms":"Encephalomyopathy mitochondrial X-linked.; ","cross_references":"MeSH; D017237.","definition":"A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"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":"Immunodeficiency 83, susceptibility to viral infections.","acronym":"IMD83.","accession":"DI-02371","synonyms":"Encephalopathy, acute, infection-induced, 2.; Encephalopathy, acute, infection-induced, 2, herpes-specific.; Herpes simplex encephalitis 2.; HSE2.; IIAE2.; Infection-induced acute encephalopathy 2.; TLR3-deficient herpes simplex encephalitis.; ","cross_references":"MeSH; D020803.","definition":"An immunologic disorder characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). IMD83 clinical manifestations include acute infection-induced encephalitis and pneumonitis. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system or lung epithelial cells. IMD83 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance with incomplete penetrance. ","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, 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, 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, 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}]}