{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4200&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4160&ordering=synonyms","results":[{"identifier":"Intellectual developmental disorder, autosomal recessive 76.","acronym":"MRT76.","accession":"DI-06445","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by global developmental delay, severely impaired intellectual development, absent speech, seizures, sleep disturbances, and feeding difficulties. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 117.","acronym":"DFNB117.","accession":"DI-06028","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by prelingual, moderate-to-profound sensorineural hearing loss. Sensorineural hearing loss 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":"Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly.","acronym":"MRT75.","accession":"DI-06393","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood, impaired intellectual development, and behavioral and psychiatric abnormalities. Some patients present seizures and facial dysmorphism. Brain imaging often shows cortical anomalies. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 73.","acronym":"MRT73.","accession":"DI-06320","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT73 patients manifest global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 72.","acronym":"MRT72.","accession":"DI-05705","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 116.","acronym":"DFNB116.","accession":"DI-05964","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by slowly progressive, moderate to profound 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, 115.","acronym":"DFNB115.","accession":"DI-05584","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by severe sensorineural hearing impairment in early childhood. 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":"Cardiomyopathy, infantile hypertrophic.","acronym":"CMHI.","accession":"DI-04888","synonyms":null,"cross_references":"MeSH; D002312.","definition":"An infantile form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Alzheimer disease mitochondrial.","acronym":"AD-MT.","accession":"DI-02761","synonyms":null,"cross_references":"MeSH; D000544.","definition":"Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ","keywords":"KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 71.","acronym":"MRT71.","accession":"DI-05617","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 70.","acronym":"MRT70.","accession":"DI-05524","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT70 patients manifest impaired intellectual development, mild facial dysmorphism, febrile seizures, and behavioral abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 114.","acronym":"DFNB114.","accession":"DI-05583","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by congenital profound 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":"Intellectual developmental disorder, autosomal recessive 69.","acronym":"MRT69.","accession":"DI-05523","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 113.","acronym":"DFNB113.","accession":"DI-05550","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. 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":"Cardiomyopathy, familial restrictive 6.","acronym":"RCM6.","accession":"DI-06155","synonyms":null,"cross_references":"MeSH; D002313.","definition":"A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. RCM6 is an autosomal recessive, severe form characterized by prenatal onset, irreversible heart failure and early death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 68.","acronym":"MRT68.","accession":"DI-05452","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 67.","acronym":"MRT67.","accession":"DI-05459","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRT67 patients manifest seizures and sensorineural hearing loss. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 112.","acronym":"DFNB112.","accession":"DI-05438","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. 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":"Intellectual developmental disorder, autosomal recessive 66.","acronym":"MRT66.","accession":"DI-05434","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT66 patients have intellectual disability, delayed speech development, neuropsychiatric symptoms, and relatively normal life span. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 65.","acronym":"MRT65.","accession":"DI-05327","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT65 patients have moderate to severe intellectual disability, developmental delay, and facial dysmorphism. Camptodactyly is present in some patients. ","keywords":"KW-0991:Intellectual disability.; "}]}