{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=400&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=360&ordering=identifier","results":[{"identifier":"Arthrogryposis multiplex congenita 6.","acronym":"AMC6.","accession":"DI-06114","synonyms":null,"cross_references":"MeSH; D001176.","definition":"A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC6 is an autosomal recessive lethal form. Death usually occurs in utero or in infancy. ","keywords":null},{"identifier":"Arthrogryposis, Perthes disease, and upward gaze palsy.","acronym":"APUG.","accession":"DI-04768","synonyms":null,"cross_references":"MeSH; D015835.","definition":"An autosomal recessive, syndromic form of arthrogryposis, a disease characterized by persistent joints flexure or contracture. APUG patients manifest an unusual combination of arthrogryposis, upward gaze palsy, and avascular necrosis of the hip (Perthes disease). ","keywords":null},{"identifier":"Arthrogryposis, renal dysfunction and cholestasis syndrome 1.","acronym":"ARCS1.","accession":"DI-00136","synonyms":"ARCS.; ARC syndrome.; Arthrogryposis renal dysfunction and cholestasis 1.; ","cross_references":"MeSH; D051437.","definition":"A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common. ","keywords":null},{"identifier":"Arthrogryposis, renal dysfunction and cholestasis syndrome 2.","acronym":"ARCS2.","accession":"DI-02624","synonyms":"Arthrogryposis renal dysfunction and cholestasis 2.; ","cross_references":"MeSH; D051437.","definition":"A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common. ","keywords":null},{"identifier":"ARTS syndrome.","acronym":"ARTS.","accession":"DI-01191","synonyms":"Fatal X-linked ataxia with deafness and loss of vision.; MRXS18.; MRXSARTS.; ","cross_references":"MeSH; D038901.","definition":"A disorder characterized by intellectual disability, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Asparagine synthetase deficiency.","acronym":"ASNSD.","accession":"DI-03985","synonyms":"ASNS deficiency.; ","cross_references":"MeSH; D000592.","definition":"An inborn error of asparagine biosynthesis that results in a severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Aspartylglucosaminuria.","acronym":"AGU.","accession":"DI-00137","synonyms":"AGA deficiency.; Aspartylglucosaminidase deficiency.; Aspartylglycosaminuria.; Glycosylasparaginase deficiency.; ","cross_references":"MeSH; D054880.","definition":"An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe intellectual disability manifesting from the age of two, coarse facial features and mild connective tissue abnormalities. ","keywords":null},{"identifier":"Asplenia, isolated congenital.","acronym":"ICAS.","accession":"DI-03692","synonyms":"Congenital isolated hyposplenia.; Familial asplenia.; Splenic hypoplasia.; ","cross_references":"MeSH; D007153.","definition":"A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome. ","keywords":null},{"identifier":"Asthma.","acronym":"ASTHMA.","accession":"DI-02482","synonyms":"Bronchial asthma.; ","cross_references":"MeSH; D001249.","definition":"The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. ","keywords":"KW-1058:Asthma.; "},{"identifier":"Asthma-related traits 1.","acronym":"ASRT1.","accession":"DI-02869","synonyms":null,"cross_references":"MeSH; D001249.","definition":"Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ","keywords":"KW-1058:Asthma.; "},{"identifier":"Asthma-related traits 2.","acronym":"ASRT2.","accession":"DI-02880","synonyms":null,"cross_references":"MeSH; D001249.","definition":"Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ","keywords":"KW-1058:Asthma.; "},{"identifier":"Asthma-related traits 5.","acronym":"ASRT5.","accession":"DI-02870","synonyms":null,"cross_references":"MeSH; D001249.","definition":"Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ","keywords":"KW-1058:Asthma.; "},{"identifier":"Asthma-related traits 7.","acronym":"ASRT7.","accession":"DI-02871","synonyms":null,"cross_references":"MeSH; D001249.","definition":"Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ","keywords":"KW-1058:Asthma.; "},{"identifier":"Asthma, with nasal polyps and aspirin intolerance.","acronym":"ANPAI.","accession":"DI-02739","synonyms":"AIA.; ASA triad.; Aspirin-intolerant asthma.; Asthma and nasal polyps.; Asthma aspirin-induced.; Nasal polyps asthma and aspirin sensitivity.; Samter triad.; ","cross_references":"MeSH; D055963.","definition":"A condition consisting of asthma, aspirin sensitivity and nasal polyposis. Nasal polyposis is due to chronic inflammation of the paranasal sinus mucosa, leading to protrusion of edematous polyps into the nasal cavities. ","keywords":"KW-1058:Asthma.; "},{"identifier":"Ataxia and polyneuropathy, adult-onset.","acronym":"APAO.","accession":"DI-04887","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.","acronym":"ACPHD.","accession":"DI-04316","synonyms":null,"cross_references":"MeSH; D034381.","definition":"A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy. ","keywords":"KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Ataxia, intention tremor, and hypotonia syndrome, childhood-onset.","acronym":"ATITHS.","accession":"DI-06132","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, mildly impaired intellectual development with speech delay or learning disabilities, delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Brain imaging shows cerebellar atrophy in some patients. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Ataxia-oculomotor apraxia 3.","acronym":"AOA3.","accession":"DI-03724","synonyms":null,"cross_references":"MeSH; D002524.","definition":"An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Ataxia-oculomotor apraxia 4.","acronym":"AOA4.","accession":"DI-04356","synonyms":null,"cross_references":"MeSH; D002524.","definition":"An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Ataxia-oculomotor apraxia syndrome.","acronym":"AOA.","accession":"DI-00138","synonyms":"AOA1.; Ataxia early-onset with oculomotor apraxia and hypoalbuminemia.; Ataxia-oculomotor apraxia 1.; Cerebellar ataxia early-onset with hypoalbuminemia.; EAOH.; EOCA-HA.; ","cross_references":"MeSH; D002524.","definition":"An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. ","keywords":"KW-0523:Neurodegeneration.; "}]}