{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=100&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=60&ordering=-synonyms","results":[{"identifier":"Amelogenesis imperfecta 1J.","acronym":"AI1J.","accession":"DI-04931","synonyms":null,"cross_references":"MeSH; D000567.","definition":"A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin. ","keywords":"KW-0986:Amelogenesis imperfecta.; "},{"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":"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":"Alazami-Yuan syndrome.","acronym":"ALYUS.","accession":"DI-04825","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive syndrome reminiscent of Cornelia de Lange syndrome and characterized by delayed psychomotor development with intellectual disability, hypotonia, microcephaly, short stature, poor speech, and dysmorphic features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Advanced sleep phase syndrome, familial, 2.","acronym":"FASPS2.","accession":"DI-03718","synonyms":null,"cross_references":"MeSH; D020178.","definition":"An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ","keywords":null},{"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":"Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia.","acronym":"ALS15.","accession":"DI-03271","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. Patients with ALS15 may develop frontotemporal dementia. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Cardiomyopathy, dilated, 1U.","acronym":"CMD1U.","accession":"DI-02967","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"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":"Acromicric dysplasia.","acronym":"ACMICD.","accession":"DI-03225","synonyms":null,"cross_references":"MeSH; D001848.","definition":"An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well- defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Cardiomyopathy, dilated, 1S.","acronym":"CMD1S.","accession":"DI-00224","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Al-Raqad syndrome.","acronym":"ARS.","accession":"DI-04480","synonyms":null,"cross_references":"MeSH; D000015.","definition":"A syndrome characterized by delayed psychomotor development, moderate to severe intellectual disability, poor or absent speech, microcephaly, congenital hypotonia, and severe growth delay. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Abdominal obesity-metabolic syndrome 4.","acronym":"AOMS4.","accession":"DI-05676","synonyms":null,"cross_references":"MeSH; D024821.","definition":"A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes. ","keywords":"KW-0219:Diabetes mellitus.; KW-0550:Obesity.; "},{"identifier":"Amegakaryocytic thrombocytopenia, congenital, 2.","acronym":"CAMT2.","accession":"DI-06746","synonyms":null,"cross_references":"MeSH; D013921.","definition":"A form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. CAMT2 is an autosomal recessive form. Most patients present with thrombocytopenia that progresses to pancytopenia. ","keywords":null},{"identifier":"Amyloidosis, hereditary systemic 5.","acronym":"AMYLD5.","accession":"DI-06895","synonyms":null,"cross_references":"MeSH; D028226.","definition":"A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD5 primarily affects the viscera, and the predominant clinical features are renal dysfunction of varying severity, and intra-abdominal bleeding. Inheritance is autosomal dominant. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Amyloidosis, primary localized cutaneous, 2.","acronym":"PLCA2.","accession":"DI-03102","synonyms":null,"cross_references":"MeSH; D028226.","definition":"A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Ablepharon-macrostomia syndrome.","acronym":"AMS.","accession":"DI-04542","synonyms":null,"cross_references":"MeSH; D008265.","definition":"A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Advanced sleep phase syndrome, familial, 3.","acronym":"FASPS3.","accession":"DI-04696","synonyms":null,"cross_references":"MeSH; D020178.","definition":"An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ","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":"Angioedema, hereditary, 5.","acronym":"HAE5.","accession":"DI-06125","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. HAE5 is an autosomal dominant form characterized by onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life. ","keywords":null}]}