Human Disease List
GET /api/human_diseases/?format=api&offset=5120&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5140&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5100&ordering=-identifier", "results": [ { "identifier": "Deafness, autosomal dominant, 2B.", "acronym": "DFNA2B.", "accession": "DI-00833", "synonyms": "Deafness, autosomal dominant, with or without peripheral neuropathy.; ", "cross_references": "MeSH; D006319.", "definition": "A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal dominant, 2A.", "acronym": "DFNA2A.", "accession": "DI-00832", "synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 2A.; Non-syndromic sensorineural deafness autosomal dominant type 2A.; ", "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 dominant, 28.", "acronym": "DFNA28.", "accession": "DI-00849", "synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 28.; Non-syndromic sensorineural deafness autosomal dominant type 28.; ", "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. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal dominant, 27.", "acronym": "DFNA27.", "accession": "DI-05689", "synonyms": null, "cross_references": "MeSH; D006319.", "definition": "A form of non-syndromic deafness characterized by postlingual, progressive, moderate to profound sensorineural hearing loss. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal dominant, 25.", "acronym": "DFNA25.", "accession": "DI-00848", "synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 25.; Non-syndromic sensorineural deafness autosomal dominant type 25.; ", "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. DFNA25 expression is variable in terms of onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal dominant, 23.", "acronym": "DFNA23.", "accession": "DI-01205", "synonyms": null, "cross_references": "MeSH; D006319.", "definition": "A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy.", "acronym": "DFNHCM.", "accession": "DI-01013", "synonyms": null, "cross_references": "MeSH; D006319.", "definition": "An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy. ", "keywords": "KW-0122:Cardiomyopathy.; KW-0209:Deafness.; " }, { "identifier": "Deafness, autosomal dominant, 22.", "acronym": "DFNA22.", "accession": "DI-00847", "synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 22.; Non-syndromic sensorineural deafness autosomal dominant type 22.; ", "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. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal dominant, 21.", "acronym": "DFNA21.", "accession": "DI-06409", "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. DFNA21 is an autosomal dominant, progressive form with incomplete penetrance. Age at onset ranges from infancy to late adulthood. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal dominant, 20.", "acronym": "DFNA20.", "accession": "DI-00846", "synonyms": "Deafness autosomal dominant 26.; DFNA26.; Non-syndromic neurosensory deafness autosomal dominant type 20.; Non-syndromic sensorineural deafness autosomal dominant type 20.; ", "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 dominant 1, with or without thrombocytopenia.", "acronym": "DFNA1.", "accession": "DI-00831", "synonyms": "Hereditary low-frequency hearing loss.; Hereditary low-frequency sensorineural hearing loss.; Konigsmark syndrome.; LFHL1.; LFSNHL1.; Non-syndromic neurosensory deafness autosomal dominant type 1.; Non-syndromic sensorineural deafness autosomal dominant type 1.; ", "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. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal dominant, 17.", "acronym": "DFNA17.", "accession": "DI-00845", "synonyms": "cochleosaccular degeneration.; ", "cross_references": "MeSH; D006319.", "definition": "A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal dominant, 15.", "acronym": "DFNA15.", "accession": "DI-00844", "synonyms": null, "cross_references": "MeSH; D006319.", "definition": "A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal dominant, 13.", "acronym": "DFNA13.", "accession": "DI-00843", "synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 13.; Non-syndromic sensorineural deafness autosomal dominant type 13.; ", "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 dominant, 12.", "acronym": "DFNA12.", "accession": "DI-00842", "synonyms": "Deafness autosomal dominant 8.; DFNA8.; Non-syndromic sensorineural deafness autosomal dominant type 12.; ", "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 dominant, 11.", "acronym": "DFNA11.", "accession": "DI-00841", "synonyms": "Non-syndromic sensorineural deafness autosomal dominant type 11.; ", "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. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "Deafness, autosomal dominant, 10.", "acronym": "DFNA10.", "accession": "DI-00840", "synonyms": "Non-syndromic neurosensory deafness autosomal dominant type 10.; Non-syndromic sensorineural deafness autosomal dominant type 10.; ", "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 and myopia.", "acronym": "DFNMYP.", "accession": "DI-03969", "synonyms": null, "cross_references": "MeSH; D006319.", "definition": "An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Deafness, aminoglycoside-induced.", "acronym": "DFNI.", "accession": "DI-05233", "synonyms": "Deafness, streptomycin-induced.; Streptomycin ototoxicity.; ", "cross_references": "MeSH; D006319.", "definition": "A form of sensorineural deafness characterized by moderate-to-profound hearing loss and mitochondrial inheritance. It is induced by exposure to aminoglycosides. ", "keywords": "KW-1010:Non-syndromic deafness.; " }, { "identifier": "D-bifunctional protein deficiency.", "acronym": "DBPD.", "accession": "DI-01471", "synonyms": null, "cross_references": "MedGen; C0342870.", "definition": "Disorder of peroxisomal fatty acid beta-oxidation. ", "keywords": null } ] }