{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4240&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4200&ordering=synonyms","results":[{"identifier":"Deafness, autosomal recessive, 104.","acronym":"DFNB104.","accession":"DI-04500","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":"Cardiomyopathy, familial restrictive 1.","acronym":"RCM1.","accession":"DI-00246","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. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 50.","acronym":"MRT50.","accession":"DI-04481","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. MRT50 patients show mild intellectual disability and microcephaly. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 5.","acronym":"MRT5.","accession":"DI-03476","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. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 103.","acronym":"DFNB103.","accession":"DI-04268","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 48.","acronym":"MRT48.","accession":"DI-04357","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. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 47.","acronym":"MRT47.","accession":"DI-04311","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. MRT47 patients show delayed development, with cognition and speech more affected than motor skills. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 102.","acronym":"DFNB102.","accession":"DI-04190","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. Vestibular function is unaffected. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Cardiomyopathy, familial hypertrophic, 9.","acronym":"CMH9.","accession":"DI-00239","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary 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":"Intellectual developmental disorder, autosomal recessive 46.","acronym":"MRT46.","accession":"DI-04283","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. MRT46 manifestations include delayed psychomotor development apparent from infancy or early childhood, delayed or absent expressive speech, hypotonia, and therapy-responsive seizures in some patients. Behavioral abnormalities are variable and include aggression, self- injurious behavior, and sleep disturbances. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 45.","acronym":"MRT45.","accession":"DI-04220","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. MRT45 manifestations include mild to moderate intellectual disability and dysmorphic features, including coarse facies, broad nasal bridge, fleshy nares, and thick, prominent lips. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 101.","acronym":"DFNB101.","accession":"DI-04121","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by bilateral, moderate to severe hearing loss. Vestibular function is unaffected. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 44.","acronym":"MRT44.","accession":"DI-04192","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. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 43.","acronym":"MRT43.","accession":"DI-04069","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. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 100.","acronym":"DFNB100.","accession":"DI-05551","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic, sensorineural deafness characterized by prelingual 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 41.","acronym":"MRT41.","accession":"DI-04038","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. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 39.","acronym":"MRT39.","accession":"DI-03963","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. MRT39 affected individuals show delayed psychomotor development, severe speech delay, short stature, kyphoscoliosis, and dysmorphic facial features. Behavioral abnormalities include hyperactivity, aggression, and stereotypic movements. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 38.","acronym":"MRT38.","accession":"DI-03939","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. MRT38 is characterized by global developmental delay affecting motor, speech, adaptive, and social development. Patients manifest autistic features, aggression, self-injury, impulsivity, and distractibility. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 37.","acronym":"MRT37.","accession":"DI-03943","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. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal dominant, 90.","acronym":"DFNA90.","accession":"DI-06850","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic, 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. DFNA90 is characterized by bilateral progressive hearing loss that affects all frequencies. ","keywords":"KW-1010:Non-syndromic deafness.; "}]}