Human Disease List

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{
    "count": 6723,
    "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5040&ordering=-identifier",
    "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5000&ordering=-identifier",
    "results": [
        {
            "identifier": "Deafness, autosomal recessive, 59.",
            "acronym": "DFNB59.",
            "accession": "DI-00877",
            "synonyms": "DFNB59 auditory neuropathy.; ",
            "cross_references": "MeSH; D006319.",
            "definition": "A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. ",
            "keywords": "KW-1010:Non-syndromic deafness.; "
        },
        {
            "identifier": "Deafness, autosomal recessive, 57.",
            "acronym": "DFNB57.",
            "accession": "DI-05260",
            "synonyms": null,
            "cross_references": "MeSH; D006319.",
            "definition": "A form of non-syndromic, sensorineural deafness characterized by symmetric, bilateral hearing loss with onset in early childhood. Vestibular function is preserved. 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. DFNB57 severity ranges from moderate to severe. ",
            "keywords": "KW-1010:Non-syndromic deafness.; "
        },
        {
            "identifier": "Deafness, autosomal recessive, 53.",
            "acronym": "DFNB53.",
            "accession": "DI-00876",
            "synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 53.; Non-syndromic sensorineural deafness autosomal recessive type 53.; ",
            "cross_references": "MeSH; D006319.",
            "definition": "A form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive 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, 49.",
            "acronym": "DFNB49.",
            "accession": "DI-00875",
            "synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 49.; Non-syndromic sensorineural deafness autosomal recessive type 49.; ",
            "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, 48.",
            "acronym": "DFNB48.",
            "accession": "DI-03551",
            "synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 48.; Non-syndromic sensorineural deafness autosomal recessive type 48.; ",
            "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. DFNB48 patients have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies. ",
            "keywords": "KW-1010:Non-syndromic deafness.; "
        },
        {
            "identifier": "Deafness, autosomal recessive, 44.",
            "acronym": "DFNB44.",
            "accession": "DI-04170",
            "synonyms": null,
            "cross_references": "MeSH; D006319.",
            "definition": "A form of non-syndromic deafness characterized by prelingual profound hearing loss affecting all frequencies. ",
            "keywords": "KW-1010:Non-syndromic deafness.; "
        },
        {
            "identifier": "Deafness, autosomal recessive, 42.",
            "acronym": "DFNB42.",
            "accession": "DI-03029",
            "synonyms": "Congenital neurosensory deafness autosomal recessive 42.; Non-syndromic neurosensory deafness autosomal recessive type 42.; Non-syndromic sensorineural deafness autosomal recessive type 42.; ",
            "cross_references": "MeSH; D006319.",
            "definition": "A prelingual, non-progressive 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, 4.",
            "acronym": "DFNB4.",
            "accession": "DI-00856",
            "synonyms": "Deafness neurosensory autosomal recessive 4.; Enlarged vestibular aqueduct.; EVA.; Neurosensory nonsyndromic recessive deafness 4.; Non-syndromic neurosensory deafness autosomal recessive type 4.; Non-syndromic sensorineural deafness autosomal recessive type 4.; NSRD4.; ",
            "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. DFNB4 is associated with an enlarged vestibular aqueduct. ",
            "keywords": "KW-1010:Non-syndromic deafness.; "
        },
        {
            "identifier": "Deafness, autosomal recessive, 39.",
            "acronym": "DFNB39.",
            "accession": "DI-02477",
            "synonyms": "Congenital neurosensory deafness autosomal recessive 39.; Non-syndromic neurosensory deafness autosomal recessive type 39.; Non-syndromic sensorineural deafness autosomal recessive type 39.; ",
            "cross_references": "MeSH; D006319.",
            "definition": "A form of profound prelingual 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, 37.",
            "acronym": "DFNB37.",
            "accession": "DI-00874",
            "synonyms": "Congenital neurosensory deafness autosomal recessive 37.; Non-syndromic neurosensory deafness autosomal recessive type 37.; Non-syndromic sensorineural deafness autosomal recessive type 37.; ",
            "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, 36, with or without vestibular involvement.",
            "acronym": "DFNB36.",
            "accession": "DI-00873",
            "synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 36.; Non-syndromic sensorineural deafness autosomal recessive type 36.; ",
            "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. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. ",
            "keywords": "KW-1010:Non-syndromic deafness.; "
        },
        {
            "identifier": "Deafness, autosomal recessive, 35.",
            "acronym": "DFNB35.",
            "accession": "DI-00872",
            "synonyms": null,
            "cross_references": "MeSH; D003638.",
            "definition": "A form of non-syndromic deafness characterized by non-progressive, prelingual hearing loss. ",
            "keywords": "KW-1010:Non-syndromic deafness.; "
        },
        {
            "identifier": "Deafness, autosomal recessive, 32, with or without immotile sperm.",
            "acronym": "DFNB32.",
            "accession": "DI-05341",
            "synonyms": "Deafness, autosomal recessive 105.; Hearing impairment and infertile male syndrome.; HIIMS.; ",
            "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. DFNB32 is characterized by prelingual, progressive, moderate to profound sensorineural deafness. Some affected men are infertile. ",
            "keywords": "KW-1010:Non-syndromic deafness.; "
        },
        {
            "identifier": "Deafness, autosomal recessive, 31.",
            "acronym": "DFNB31.",
            "accession": "DI-00871",
            "synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 31.; Non-syndromic sensorineural deafness autosomal recessive type 31.; ",
            "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, 30.",
            "acronym": "DFNB30.",
            "accession": "DI-00870",
            "synonyms": null,
            "cross_references": "MeSH; D003638.",
            "definition": "A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies. ",
            "keywords": "KW-1010:Non-syndromic deafness.; "
        },
        {
            "identifier": "Deafness, autosomal recessive, 3.",
            "acronym": "DFNB3.",
            "accession": "DI-00855",
            "synonyms": "Deafness neurosensory autosomal recessive 3.; Neurosensory nonsyndromic recessive deafness 3.; Non-syndromic neurosensory deafness autosomal recessive type 3.; Non-syndromic sensorineural deafness autosomal recessive type 3.; NSRD3.; ",
            "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, 29.",
            "acronym": "DFNB29.",
            "accession": "DI-00869",
            "synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 29.; Non-syndromic sensorineural deafness autosomal recessive type 29.; ",
            "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, 28.",
            "acronym": "DFNB28.",
            "accession": "DI-00868",
            "synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 28.; Non-syndromic sensorineural deafness autosomal recessive 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. ",
            "keywords": "KW-1010:Non-syndromic deafness.; "
        },
        {
            "identifier": "Deafness, autosomal recessive, 26.",
            "acronym": "DFNB26.",
            "accession": "DI-05262",
            "synonyms": null,
            "cross_references": "MeSH; D006319.",
            "definition": "A form of non-syndromic sensorineural deafness characterized by prelingual, severe to profound 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, 25.",
            "acronym": "DFNB25.",
            "accession": "DI-02537",
            "synonyms": null,
            "cross_references": "MeSH; D006319.",
            "definition": "A form of non-syndromic sensorineural deafness characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in others. Speech development is impaired in some but not all affected individuals, and vestibular dysfunction is observed in some affected individuals. 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.; "
        }
    ]
}