{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=180&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=140&ordering=-synonyms","results":[{"identifier":"Arrhythmogenic right ventricular dysplasia, familial, 14.","acronym":"ARVD14.","accession":"DI-05863","synonyms":null,"cross_references":"MeSH; D019571.","definition":"A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Amyotrophic lateral sclerosis 5, juvenile.","acronym":"ALS5.","accession":"DI-04565","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Arthrogryposis, impaired intellectual development, and seizures.","acronym":"AMRS.","accession":"DI-03977","synonyms":null,"cross_references":"MeSH; D012640.","definition":"A disease characterized by arthrogryposis, intellectual disability, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Amyotrophic lateral sclerosis 28.","acronym":"ALS28.","accession":"DI-06733","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS28 is an autosomal dominant form characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness. Facial involvement is rare, but some patients may have respiratory insufficiency. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Acromelic frontonasal dysostosis.","acronym":"AFND.","accession":"DI-04203","synonyms":null,"cross_references":"MeSH; D000013.","definition":"A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V- shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. ","keywords":null},{"identifier":"Amyotrophic lateral sclerosis 25.","acronym":"ALS25.","accession":"DI-05205","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Angioedema, hereditary, 4.","acronym":"HAE4.","accession":"DI-06124","synonyms":null,"cross_references":"MeSH; D054179.","definition":"A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE4 is an autosomal dominant form with incomplete penetrance, variable expressivity, and female predominance. ","keywords":null},{"identifier":"Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia.","acronym":"ALS6.","accession":"DI-00111","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Atrial septal defect 4.","acronym":"ASD4.","accession":"DI-00152","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Atrial fibrillation, familial, 17.","acronym":"ATFB17.","accession":"DI-04164","synonyms":null,"cross_references":"MeSH; D001281.","definition":"A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ","keywords":"KW-1020:Atrial fibrillation.; "},{"identifier":"Analbuminemia.","acronym":"ANALBA.","accession":"DI-04235","synonyms":null,"cross_references":"MeSH; D034141.","definition":"A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. ","keywords":null},{"identifier":"Albright hereditary osteodystrophy.","acronym":"AHO.","accession":"DI-00073","synonyms":null,"cross_references":"MeSH; D011547.","definition":"A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. ","keywords":"KW-0242:Dwarfism.; KW-0550:Obesity.; "},{"identifier":"Aniridia 3.","acronym":"AN3.","accession":"DI-04859","synonyms":null,"cross_references":"MeSH; D015783.","definition":"A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. ","keywords":null},{"identifier":"Alfadhel syndrome.","acronym":"AFDL.","accession":"DI-06815","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and regression, intellectual disability, hypotonia, delayed motor development, stereotypy, behavioral abnormalities, and dysmorphic features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Amyotrophic lateral sclerosis 9.","acronym":"ALS9.","accession":"DI-00113","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Alkuraya-Kucinskas syndrome.","acronym":"ALKKUCS.","accession":"DI-05169","synonyms":null,"cross_references":"MeSH; D009421.","definition":"An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features. ","keywords":null},{"identifier":"Allergic rhinitis.","acronym":"ALRH.","accession":"DI-02868","synonyms":null,"cross_references":"MeSH; D012221.","definition":"A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure. ","keywords":null},{"identifier":"Alpha-1-antitrypsin deficiency.","acronym":"A1ATD.","accession":"DI-02928","synonyms":null,"cross_references":"MeSH; D019896.","definition":"A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age. ","keywords":null},{"identifier":"Acromesomelic dysplasia 4.","acronym":"AMD4.","accession":"DI-06276","synonyms":null,"cross_references":"MeSH; D004392.","definition":"A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Autism 17.","acronym":"AUTS17.","accession":"DI-02794","synonyms":null,"cross_references":"MeSH; D001321.","definition":"A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ","keywords":"KW-1269:Autism.; "}]}