Human Disease List

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{
    "count": 6723,
    "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3120&ordering=-identifier",
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    "results": [
        {
            "identifier": "Leber hereditary optic neuropathy with dystonia.",
            "acronym": "LDYT.",
            "accession": "DI-00641",
            "synonyms": "Familial dystonia with visual failure and striatal lucencies.; Leber optic atrophy and dystonia.; Marsden syndrome.; ",
            "cross_references": "MeSH; D029242.",
            "definition": "A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. LDYT is characterized by the association of optic atrophy and central vision loss with dystonia. ",
            "keywords": "KW-0429:Leber hereditary optic neuropathy.; KW-1023:Dystonia.; "
        },
        {
            "identifier": "Leber hereditary optic neuropathy, modifier.",
            "acronym": "LOAM.",
            "accession": "DI-06012",
            "synonyms": "Leber hereditary optic neuropathy, modifier of.; Leber hereditary optic neuropathy susceptibility.; LOAS.; Modifier of Leber hereditary optic neuropathy.; ",
            "cross_references": "MeSH; D029242.",
            "definition": "A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Leber hereditary optic neuropathy is maternally inherited in most case and results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. Mutations in modifier genes can influence disease expression. LOAM exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by MTND4 primary mutations, due to the action of mutations in PRICKLE3 as a modifier gene. ",
            "keywords": "KW-0429:Leber hereditary optic neuropathy.; "
        },
        {
            "identifier": "Leber hereditary optic neuropathy.",
            "acronym": "LHON.",
            "accession": "DI-00640",
            "synonyms": "Leber optic atrophy.; LOA.; Optic atrophy Leber type.; ",
            "cross_references": "MeSH; D029242.",
            "definition": "A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. ",
            "keywords": "KW-0429:Leber hereditary optic neuropathy.; "
        },
        {
            "identifier": "Leber congenital amaurosis with early-onset deafness.",
            "acronym": "LCAEOD.",
            "accession": "DI-05197",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "An autosomal dominant disease characterized by severe retinal degeneration and sensorineural hearing loss. Symptoms occur within the first decade of life. Onset at birth is observed in some patients. ",
            "keywords": "KW-0209:Deafness.; KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 9.",
            "acronym": "LCA9.",
            "accession": "DI-03534",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 8.",
            "acronym": "LCA8.",
            "accession": "DI-00636",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 7.",
            "acronym": "LCA7.",
            "accession": "DI-00635",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 6.",
            "acronym": "LCA6.",
            "accession": "DI-00634",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 5.",
            "acronym": "LCA5.",
            "accession": "DI-00633",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 4.",
            "acronym": "LCA4.",
            "accession": "DI-00632",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 3.",
            "acronym": "LCA3.",
            "accession": "DI-00631",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 2.",
            "acronym": "LCA2.",
            "accession": "DI-00630",
            "synonyms": "Leber congenital amaurosis type II.; ",
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 19.",
            "acronym": "LCA19.",
            "accession": "DI-05621",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A form of Leber congenital amaurosis, a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. LCA19 is an autosomal recessive form characterized by reduced vision in early childhood and severely reduced responses of both rods and cones. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 18.",
            "acronym": "LCA18.",
            "accession": "DI-04324",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 17.",
            "acronym": "LCA17.",
            "accession": "DI-03831",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 16.",
            "acronym": "LCA16.",
            "accession": "DI-03236",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 15.",
            "acronym": "LCA15.",
            "accession": "DI-03049",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 14.",
            "acronym": "LCA14.",
            "accession": "DI-02683",
            "synonyms": "Retinitis pigmentosa juvenile LRAT-related.; Severe early-onset retinal dystrophy LRAT-related.; ",
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 13.",
            "acronym": "LCA13.",
            "accession": "DI-00639",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        },
        {
            "identifier": "Leber congenital amaurosis 12.",
            "acronym": "LCA12.",
            "accession": "DI-00638",
            "synonyms": null,
            "cross_references": "MeSH; D057130.",
            "definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
            "keywords": "KW-0901:Leber congenital amaurosis.; "
        }
    ]
}