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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6080&ordering=synonyms",
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"results": [
{
"identifier": "Retinitis pigmentosa 38.",
"acronym": "RP38.",
"accession": "DI-03030",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Spermatogenic failure 18.",
"acronym": "SPGF18.",
"accession": "DI-05027",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF18 patients present with primary infertility and multiple morphological abnormalities of sperm flagella that result in impaired sperm mobility. Abnormalities include absent, short, coiled, bent, and irregular flagella. SPGF18 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 19.",
"acronym": "SPGF19.",
"accession": "DI-05026",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF19 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 2.",
"acronym": "SPGF2.",
"accession": "DI-06451",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive disorder characterized by male infertility due to non-obstructive azoospermia. Testicular histopathology reveals no round spermatids or spermatozoa in the seminiferous tubules of SPGF2 patients, consistent with meiotic arrest. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 20.",
"acronym": "SPGF20.",
"accession": "DI-05028",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 21.",
"acronym": "SPGF21.",
"accession": "DI-05077",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects and characterized by acephalic spermatozoa in the semen of affected individuals. SPGF21 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 22.",
"acronym": "SPGF22.",
"accession": "DI-05083",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 23.",
"acronym": "SPGF23.",
"accession": "DI-05085",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 24.",
"acronym": "SPGF24.",
"accession": "DI-05256",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 25.",
"acronym": "SPGF25.",
"accession": "DI-05242",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in severe oligozoospermia or azoospermia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 26.",
"acronym": "SPGF26.",
"accession": "DI-05243",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in acephalic spermatozoa. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 27.",
"acronym": "SPGF27.",
"accession": "DI-05244",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the sperm flagella, including short, irregular, coiled, or absent flagella. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 28.",
"acronym": "SPGF28.",
"accession": "DI-05308",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligoasthenospermia or non-obstructive azoospermia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 29.",
"acronym": "SPGF29.",
"accession": "DI-05313",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or oligozoospermia. When produced, spermatozoa are immotile and have abnormal morphology, primarily defects of the acrosome and head-neck junction. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 3.",
"acronym": "SPGF3.",
"accession": "DI-03796",
"synonyms": null,
"cross_references": "MeSH; D053627.",
"definition": "A disorder characterized by primary infertility, sperm morphologic abnormalities, and moderate to severe asthenozoospermia, condition in which the percentage of progressively motile sperm is abnormally low. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 30.",
"acronym": "SPGF30.",
"accession": "DI-05324",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or cryptozoospermia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 31.",
"acronym": "SPGF31.",
"accession": "DI-05314",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligozoospermia with a high proportion of acephalic sperm. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 32.",
"acronym": "SPGF32.",
"accession": "DI-05325",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal dominant infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 40.",
"acronym": "SPGF40.",
"accession": "DI-05693",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 41.",
"acronym": "SPGF41.",
"accession": "DI-05694",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder characterized by oligozoospermia, severe asthenozoospermia and flagellar abnormalities such as short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities. ",
"keywords": null
}
]
}