{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3440&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3400&ordering=-identifier","results":[{"identifier":"Intellectual developmental disorder, autosomal recessive 58.","acronym":"MRT58.","accession":"DI-04902","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. MRT58 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 57.","acronym":"MRT57.","accession":"DI-04875","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. MRT57 patients have moderate to severe intellectual disability, and delayed psychomotor development with poor or absent speech. Some patients manifest seizures and autistic features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 56.","acronym":"MRT56.","accession":"DI-04823","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":"Intellectual developmental disorder, autosomal recessive 54.","acronym":"MRT54.","accession":"DI-04760","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. MRT54 patients manifest intellectual disability, delayed speech and hyperactivity. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 52.","acronym":"MRT52.","accession":"DI-04697","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. MRT52 clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 51.","acronym":"MRT51.","accession":"DI-04633","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":"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":"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":"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":"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":"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":"Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly.","acronym":"MRT34.","accession":"DI-03395","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disorder characterized by mild to moderate intellectual disability, megalencephaly or enlarged head circumference, and a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures. ","keywords":"KW-0451:Lissencephaly.; KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 3.","acronym":"MRT3.","accession":"DI-00716","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.; "}]}