{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5820&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5780&ordering=synonyms","results":[{"identifier":"Intellectual developmental disorder, autosomal dominant 65.","acronym":"MRD65.","accession":"DI-06105","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal dominant 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. MRD65 is characterized by delayed motor and speech acquisition, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. Additional variable features include feeding difficulties, hypotonia, and seizures. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal dominant 66.","acronym":"MRD66.","accession":"DI-06443","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal dominant disorder characterized by mild to moderate global development delay, impaired intellectual development, and speech delay. Additional common symptoms include autism, seizures, and distal limb abnormalities. Disease severity is highly variable. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal dominant 67.","acronym":"MRD67.","accession":"DI-06444","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal dominant disorder characterized by global development delay and impaired intellectual development apparent from infancy or early childhood. Additional features may include behavioral abnormalities, and language and sleeping difficulties. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal dominant 68.","acronym":"MRD68.","accession":"DI-06462","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal dominant disorder characterized by developmental delay, intellectual disability, microcephaly, poor growth, feeding difficulties, and dysmorphic features. Some patients may have autism spectrum disorder or attention deficit-hyperactivity disorder. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal dominant 69.","acronym":"MRD69.","accession":"DI-06461","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal dominant disorder characterized by developmental delay and variably impaired intellectual development. Additional features may include intention tremor in infancy and seizures in childhood, with remission of these in adolescence. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal dominant 7.","acronym":"MRD7.","accession":"DI-03186","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disease characterized by primary microcephaly, severe intellectual disability without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Intellectual disability is 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 dominant 70.","acronym":"MRD70.","accession":"DI-06565","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal dominant disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities.","acronym":"MRD71.","accession":"DI-06659","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, speech delay, and impaired intellectual development. Most patients manifest neurobehavioral features including autism spectrum disorder and attention- deficit/hyperactivity disorder. Other frequent features include hypersensitivity to sensory stimuli and sleep problems. ","keywords":"KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Intellectual developmental disorder, autosomal dominant 72.","acronym":"MRD72.","accession":"DI-06715","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by mild developmental delay and intellectual disability, predominant speech delay, autistic or attention deficit-hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features. ","keywords":"KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Intellectual developmental disorder, autosomal dominant 74.","acronym":"MRD74.","accession":"DI-06839","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by global developmental delay, including delay of motor skills and speech delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 1.","acronym":"MRT1.","accession":"DI-00714","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 12.","acronym":"MRT12.","accession":"DI-03255","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 13.","acronym":"MRT13.","accession":"DI-02585","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. Brain magnetic resonance imaging of MRT13 patients indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 14.","acronym":"MRT14.","accession":"DI-03192","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 27.","acronym":"MRT27.","accession":"DI-04059","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 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.; "},{"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 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":"Schmid type metaphyseal chondrodysplasia.","acronym":"SMCD.","accession":"DI-02285","synonyms":null,"cross_references":"MedGen; C0265289.","definition":"Dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end- plate irregularity. ","keywords":null},{"identifier":"Schwartz-Jampel syndrome.","acronym":"SJS1.","accession":"DI-02288","synonyms":null,"cross_references":"MedGen; C0036391.","definition":"Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. ","keywords":null}]}