{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4120&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4080&ordering=synonyms","results":[{"identifier":"Deafness, autosomal recessive, 74.","acronym":"DFNB74.","accession":"DI-02958","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Iron overload.","acronym":"IO.","accession":"DI-06548","synonyms":null,"cross_references":"MeSH; D019190.","definition":"A disorder of iron homeostasis with incomplete and age-dependent penetrance. It is characterized by adult onset of increased hepatic and systemic iron levels, increased serum ferritin, normal or high transferrin saturation, and inappropriately low or normal levels of hepcidin. The severity of the phenotype depends on age, sex, as well as additional genetic or acquired factors including alcohol consumption and increased body weight. ","keywords":null},{"identifier":"Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.","acronym":"IMAGEI.","accession":"DI-05489","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth failure, metaphyseal dysplasia, adrenal hypoplasia congenita, growth hormone deficiency, genital anomalies, and immunodeficiency resulting in increased infections. ","keywords":null},{"identifier":"Deafness, autosomal recessive, 70, with or without adult-onset neurodegeneration.","acronym":"DFNB70.","accession":"DI-03614","synonyms":null,"cross_references":"MeSH; D003638.","definition":"A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech. Affected individuals may develop a neurodegenerative disease in adulthood, including ataxia with loss of ambulation, optic atrophy, dystonia or spasticity, and cognitive decline with psychiatric features. ","keywords":"KW-0523:Neurodegeneration.; KW-1010:Non-syndromic deafness.; "},{"identifier":"Intractable childhood epilepsy with generalized tonic-clonic seizures.","acronym":"ICEGTC.","accession":"DI-00599","synonyms":null,"cross_references":"MeSH; D004831.","definition":"A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Intracardiac myxoma.","acronym":"INTMYX.","accession":"DI-01830","synonyms":null,"cross_references":"MedGen; C2931787.","definition":"Inheritance is autosomal recessive. ","keywords":null},{"identifier":"Deafness, autosomal recessive, 68.","acronym":"DFNB68.","accession":"DI-04685","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Cataract 15, multiple types.","acronym":"CTRCT15.","accession":"DI-03782","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others. ","keywords":"KW-0898:Cataract.; "},{"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":"Atrial fibrillation, familial, 16.","acronym":"ATFB16.","accession":"DI-04165","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":"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":"Intestinal dysmotility syndrome.","acronym":"IDMTS.","accession":"DI-06508","synonyms":null,"cross_references":"MeSH; D007410.","definition":"An autosomal recessive disorder characterized by impaired intestinal peristalsis, recurrent episodes of haemorrhagic diarrhea, and distention of intestinal loops. Intestinal and hepatic portal venous gas, dysmorphic features, and developmental delay may also be present. ","keywords":null},{"identifier":"Deafness, autosomal recessive, 67.","acronym":"DFNB67.","accession":"DI-02067","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 66.","acronym":"DFNB66.","accession":"DI-04549","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Interstitial lung disease 1.","acronym":"ILD1.","accession":"DI-06268","synonyms":null,"cross_references":"MeSH; D054990.","definition":"A form of interstitial lung disease, a heterogeneous group of diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The disease spectrum ranges from idiopathic interstitial pneumonia or pneumonitis to idiopathic pulmonary fibrosis, that is associated with an increased risk of developing lung cancer. Clinical features of interstitial lung disease include dyspnea, clubbing of the fingers, and restrictive lung capacity. ILD1 inheritance can be autosomal dominant with incomplete penetrance, and autosomal recessive. ","keywords":null},{"identifier":"Cataract 13, with adult i phenotype.","acronym":"CTRCT13.","accession":"DI-03830","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Atrial fibrillation, familial, 15.","acronym":"ATFB15.","accession":"DI-04082","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":"Intellectual disability and myopathy syndrome.","acronym":"IDMYS.","accession":"DI-06322","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay, mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and white matter abnormalities on brain imaging. Variable additional features may include sensorineural hearing loss, dysmorphic facies, and progressive heart disease. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Cataract 12, multiple types.","acronym":"CTRCT12.","accession":"DI-01215","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies.","acronym":"MRXSPF.","accession":"DI-06258","synonyms":null,"cross_references":"MeSH; D038901.","definition":"A disorder characterized by severe developmental delay with impaired intellectual development and poor speech, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females. ","keywords":"KW-0991:Intellectual disability.; "}]}