{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4180&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4140&ordering=synonyms","results":[{"identifier":"Intellectual developmental disorder, X-linked 111.","acronym":"XLID111.","accession":"DI-06670","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A neurodevelopmental disorder characterized by moderate to severe intellectual disability, delayed development, speech delay, and neuropsychiatric and behavioral problems such as anxiety, attention deficit-hyperactivity disorder and autism spectrum disorder. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Carney complex variant.","acronym":"CACOV.","accession":"DI-01320","synonyms":null,"cross_references":"MedGen; C1837245.","definition":"Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. ","keywords":null},{"identifier":"Intellectual developmental disorder, X-linked 110.","acronym":"XLID110.","accession":"DI-06576","synonyms":null,"cross_references":"MeSH; D065886.","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, 124.","acronym":"DFNB124.","accession":"DI-06888","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by progressive sensorineural hearing loss with onset at birth. 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, X-linked 108.","acronym":"MRX108.","accession":"DI-05522","synonyms":null,"cross_references":"MeSH; D038901.","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. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 123.","acronym":"DFNB123.","accession":"DI-06863","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by bilateral, severe to profound sensorineural hearing loss with onset in the first decade of life. 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":"Deafness, autosomal recessive, 122.","acronym":"DFNB122.","accession":"DI-06846","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by adult-onset progressive, 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":"Deafness, autosomal recessive, 121.","acronym":"DFNB121.","accession":"DI-06784","synonyms":null,"cross_references":"MeSH; D034381.","definition":"A form of non-syndromic deafness characterized by congenital or prelingual onset of moderate 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":"Carey-Fineman-Ziter syndrome 2.","acronym":"CFZS2.","accession":"DI-06467","synonyms":null,"cross_references":"MeSH; D020331.","definition":"An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Some patients manifest failure to thrive, axial hypotonia, and progressive scoliosis. ","keywords":null},{"identifier":"Deafness, autosomal recessive, 120.","acronym":"DFNB120.","accession":"DI-06605","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by congenital or prelingual onset of severe 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, X-linked, syndromic 37.","acronym":"MRXS37.","accession":"DI-06875","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A syndromic neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral abnormalities, hypotonia, congenital anomalies, and facial dysmorphism. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 82.","acronym":"MRT82.","accession":"DI-06876","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by developmental delay, motor and speech delay, intellectual disability, and behavioral anomalies. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 81.","acronym":"MRT81.","accession":"DI-06840","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by variable features including mild to severe developmental delay, hypotonia, feeding difficulties, extreme fatigue, and neurobehavioral abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly.","acronym":"MRT80.","accession":"DI-06813","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay, mildly to moderately impaired intellectual development, attention deficit-hyperactivity disorder, hypotonia, seizure, poor social skills, and autistic traits. Brain imaging shows fronto- temporal lissencephaly and pachygyria. ","keywords":"KW-0451:Lissencephaly.; KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 24.","acronym":"DFNB24.","accession":"DI-02066","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":"Deafness, autosomal recessive, 119.","acronym":"DFNB119.","accession":"DI-06271","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by mild 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 79.","acronym":"MRT79.","accession":"DI-06682","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive neurodevelopmental disorder apparent from infancy and characterized by global developmental delay, severe intellectual disability, poor or absent speech, ataxia, and postnatal microcephaly. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, autosomal recessive 78.","acronym":"MRT78.","accession":"DI-06604","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive neurodevelopmental disorder characterized by usually mild intellectual disability, microcephaly, and short stature. Additional features may include ocular abnormalities and mild skeletal defects. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 118, with cochlear aplasia.","acronym":"DFNB118.","accession":"DI-06233","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia. 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 77.","acronym":"MRT77.","accession":"DI-06477","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive neurodevelopmental disorder apparent from infancy and characterized by global developmental delay, variably impaired cognitive development, delayed walking, and poor speech in some cases. ","keywords":"KW-0991:Intellectual disability.; "}]}