{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4260&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4220&ordering=synonyms","results":[{"identifier":"Deafness, autosomal dominant, 9.","acronym":"DFNA9.","accession":"DI-00839","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Cardiomyopathy, familial hypertrophic, 7.","acronym":"CMH7.","accession":"DI-00237","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":"Ataxia-telangiectasia-like disorder 2.","acronym":"ATLD2.","accession":"DI-04180","synonyms":null,"cross_references":"MeSH; D049914.","definition":"A neurodegenerative disorder due to defects in DNA excision repair. ATLD2 is characterized by developmental delay, ataxia, sensorineural hearing loss, short stature, cutaneous and ocular telangiectasia, and photosensitivity. ","keywords":"KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0523:Neurodegeneration.; "},{"identifier":"Alzheimer disease 9.","acronym":"AD9.","accession":"DI-04711","synonyms":null,"cross_references":"MeSH; D000544.","definition":"A familial, late-onset form of Alzheimer disease. 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":"Adams-Oliver syndrome 5.","acronym":"AOS5.","accession":"DI-04227","synonyms":null,"cross_references":"MeSH; D017880.","definition":"A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ","keywords":null},{"identifier":"Adams-Oliver syndrome 4.","acronym":"AOS4.","accession":"DI-03817","synonyms":null,"cross_references":"MeSH; D017880.","definition":"A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ","keywords":null},{"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.; "},{"identifier":"Deafness, autosomal dominant, 89.","acronym":"DFNA89.","accession":"DI-06625","synonyms":null,"cross_references":"MeSH; D006319.","definition":"An autosomal dominant form of non-syndromic deafness characterized by progressive hearing loss, with onset at birth or early childhood. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"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":"Deafness, autosomal dominant, 88.","acronym":"DFNA88.","accession":"DI-06616","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. DFNA88 is characterized by postlingual, progressive and severe hearing loss with tinnitus. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"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":"Deafness, autosomal dominant, 87.","acronym":"DFNA87.","accession":"DI-06615","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. DFNA87 is characterized by prelingual, profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"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 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":"Deafness, autosomal dominant, 86.","acronym":"DFNA86.","accession":"DI-06614","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. DFNA86 is characterized by progressive, bilateral hearing loss that is most predominant in the high frequencies, begins mildly during the fourth decade and gradually progresses to severe-to-profound deafness in the seventh and eighth decades. Affected subjects have tinnitus, while vestibular dysfunction or other clinical abnormalities are not present. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Cardiomyopathy, familial hypertrophic, 4.","acronym":"CMH4.","accession":"DI-00236","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 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 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":"Deafness, autosomal dominant, 85.","acronym":"DFNA85.","accession":"DI-06578","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. DFNA85 is characterized by progressive hearing loss, with onset in childhood or young adulthood. ","keywords":"KW-1010:Non-syndromic deafness.; "}]}