Human Disease List
GET /api/human_diseases/?format=api&offset=3080&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3100&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3060&ordering=-identifier", "results": [ { "identifier": "Leptin deficiency.", "acronym": "LEPD.", "accession": "DI-03637", "synonyms": "Leptin deficiency or dysfunction.; Morbid obesity.; Morbid obesity due to leptin deficiency.; Obesity due to congenital leptin deficiency.; ", "cross_references": "MeSH; D009767.", "definition": "A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age. ", "keywords": "KW-0550:Obesity.; " }, { "identifier": "Leprechaunism.", "acronym": "LEPRCH.", "accession": "DI-01890", "synonyms": "Donohue syndrome.; ", "cross_references": "MedGen; C0271689.", "definition": "Represents the most severe form of insulin resistance syndrome, characterized by intrauterine and postnatal growth retardation and death in early infancy. Inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "LEOPARD syndrome 3.", "acronym": "LPRD3.", "accession": "DI-02991", "synonyms": null, "cross_references": "MeSH; D044542.", "definition": "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "LEOPARD syndrome 2.", "acronym": "LPRD2.", "accession": "DI-01889", "synonyms": null, "cross_references": "MeSH; D044542.", "definition": "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "LEOPARD syndrome 1.", "acronym": "LPRD1.", "accession": "DI-01888", "synonyms": null, "cross_references": "MeSH; D044542.", "definition": "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Lenz-Majewski hyperostotic dwarfism.", "acronym": "LMHD.", "accession": "DI-04022", "synonyms": "Lenz-Majewski syndrome.; LMS.; ", "cross_references": "MeSH; D015576.", "definition": "A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction. ", "keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; " }, { "identifier": "Leigh syndrome.", "acronym": "LS.", "accession": "DI-01886", "synonyms": "Leigh Disease.; Leigh syndrome due to mitochondrial complex I deficiency.; Leigh syndrome due to mitochondrial complex II deficiency.; Leigh syndrome due to mitochondrial complex III deficiency.; Leigh syndrome due to mitochondrial complex IV deficiency.; Leigh syndrome due to mitochondrial complex V deficiency.; Necrotizing encephalopathy infantile subacute of Leigh.; SNE.; ", "cross_references": "MeSH; D007888.", "definition": "An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. ", "keywords": "KW-0431:Leigh syndrome.; " }, { "identifier": "Legius syndrome.", "acronym": "LGSS.", "accession": "DI-02046", "synonyms": "Neurofibromatosis 1-like syndrome.; NFLS.; ", "cross_references": "MeSH; D019080.", "definition": "An autosomal dominant syndrome characterized mainly by cafe-au-lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning disabilities, and features of attention deficit-hyperactivity disorder. ", "keywords": null }, { "identifier": "Legg-Calve-Perthes disease.", "acronym": "LCPD.", "accession": "DI-01885", "synonyms": "Legg-Perthes disease.; Perthes disease.; ", "cross_references": "MedGen; C0023234.", "definition": "Characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. ", "keywords": null }, { "identifier": "Left ventricular non-compaction 9.", "acronym": "LVNC9.", "accession": "DI-03886", "synonyms": "Left ventricular noncompaction 9.; ", "cross_references": "MeSH; D056830.", "definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC9 is an autosomal dominant condition. ", "keywords": "KW-0122:Cardiomyopathy.; " }, { "identifier": "Left ventricular non-compaction 8.", "acronym": "LVNC8.", "accession": "DI-03859", "synonyms": "Left ventricular noncompaction 8.; ", "cross_references": "MeSH; D056830.", "definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC8 is an autosomal dominant condition. ", "keywords": "KW-0122:Cardiomyopathy.; " }, { "identifier": "Left ventricular non-compaction 7.", "acronym": "LVNC7.", "accession": "DI-03659", "synonyms": "Left ventricular noncompaction 7.; ", "cross_references": "MeSH; D056830.", "definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC7 is an autosomal dominant condition. ", "keywords": "KW-0122:Cardiomyopathy.; " }, { "identifier": "Left ventricular non-compaction 5.", "acronym": "LVNC5.", "accession": "DI-05185", "synonyms": null, "cross_references": "MeSH; D056830.", "definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. ", "keywords": "KW-0122:Cardiomyopathy.; " }, { "identifier": "Left ventricular non-compaction 3.", "acronym": "LVNC3.", "accession": "DI-01489", "synonyms": "Left ventricular noncompaction 3.; ", "cross_references": "MeSH; D056830.", "definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC3 is an autosomal dominant condition. ", "keywords": "KW-0122:Cardiomyopathy.; " }, { "identifier": "Left ventricular non-compaction 10.", "acronym": "LVNC10.", "accession": "DI-03871", "synonyms": "Left ventricular noncompaction 10.; ", "cross_references": "MeSH; D056830.", "definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC10 is an autosomal dominant condition. ", "keywords": "KW-0122:Cardiomyopathy.; " }, { "identifier": "Left ventricular non-compaction 1.", "acronym": "LVNC1.", "accession": "DI-00823", "synonyms": "Left ventricular non-compaction with or without congenital heart defects.; Non-compaction of left ventricular myocardium isolated autosomal dominant type 1.; Non-compaction of left ventricular myocardium with congenital heart defects.; ", "cross_references": "MeSH; D056830.", "definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition. ", "keywords": "KW-0122:Cardiomyopathy.; " }, { "identifier": "Left-right axis malformations.", "acronym": "LRAM.", "accession": "DI-01883", "synonyms": null, "cross_references": "MedGen; C1866091.", "definition": "The defect includes left pulmonary isomerism, with cardiac anomalies characterized by complete atrioventricular canal defect and hypoplastic left ventricle, and interrupted inferior vena cava. ", "keywords": "KW-1056:Heterotaxy.; " }, { "identifier": "Lecithin-cholesterol acyltransferase deficiency.", "acronym": "LCATD.", "accession": "DI-00642", "synonyms": "Familial LCAT deficiency.; FLD.; Lecithin:cholesterol acyltransferase deficiency.; Norum disease.; ", "cross_references": "MeSH; D007863.", "definition": "A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. ", "keywords": null }, { "identifier": "Leber-like hereditary optic neuropathy, autosomal recessive 2.", "acronym": "LHONAR2.", "accession": "DI-06787", "synonyms": null, "cross_references": "MeSH; D015418.", "definition": "An autosomal recessive form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. LHONAR2 is characterized by subacute bilateral or asymmetrical visual loss, optic nerve pseudoedema and peripapillary telangiectasia in the early phase of the disease, and eventual partial recovery in some patients. ", "keywords": "KW-0429:Leber hereditary optic neuropathy.; " }, { "identifier": "Leber-like hereditary optic neuropathy, autosomal recessive 1.", "acronym": "LHONAR1.", "accession": "DI-06147", "synonyms": "MC1DN38.; Mitochondrial complex I deficiency, nuclear type 38.; ", "cross_references": "MeSH; D015418.", "definition": "An autosomal recessive form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. ", "keywords": "KW-0429:Leber hereditary optic neuropathy.; " } ] }