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{
"identifier": "Spermatogenic failure 60.",
"acronym": "SPGF60.",
"accession": "DI-06205",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia, due to sperm maturation arrest before the pachytene stage. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 61.",
"acronym": "SPGF61.",
"accession": "DI-06206",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia, due to complete meiotic arrest at the primary spermatocyte stage. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 62.",
"acronym": "SPGF62.",
"accession": "DI-06207",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia, due to complete metaphase arrest at the spermatocyte stage. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 63.",
"acronym": "SPGF63.",
"accession": "DI-06208",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by severe oligozoospermia and reduced progressive sperm motility. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 89.",
"acronym": "SPGF89.",
"accession": "DI-06843",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder due to severely reduced progressive motility of sperm. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 64.",
"acronym": "SPGF64.",
"accession": "DI-06306",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by oligoasthenoteratozoospermia or non-obstructive azoospermia. Some patients have absent sperm due to meiotic arrest at the diplotene stage. Others show low sperm counts and reduced progressive motility. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 65.",
"acronym": "SPGF65.",
"accession": "DI-06307",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent due to multiple morphologic abnormalities of the flagella. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 66.",
"acronym": "SPGF66.",
"accession": "DI-06369",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 67.",
"acronym": "SPGF67.",
"accession": "DI-06370",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 68.",
"acronym": "SPGF68.",
"accession": "DI-06371",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 69.",
"acronym": "SPGF69.",
"accession": "DI-06390",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by low sperm concentrations, globozoospermia, and absence of sperm acrosome. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 35.",
"acronym": "RP35.",
"accession": "DI-00992",
"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 70.",
"acronym": "SPGF70.",
"accession": "DI-06391",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by azoospermia, sperm immotility or necrozoospermia. Hypospermatogenesis and meiotic arrest have also been observed. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 71.",
"acronym": "SPGF71.",
"accession": "DI-06392",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 72.",
"acronym": "SPGF72.",
"accession": "DI-06415",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by asthenoteratospermia and multiple morphologic abnormalities of the flagella, including coiled, short, angulated, absent, and irregular- caliber flagella, resulting in absent sperm motility. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 73.",
"acronym": "SPGF73.",
"accession": "DI-06416",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia due to meiotic arrest. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 74.",
"acronym": "SPGF74.",
"accession": "DI-06417",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by non- obstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage. Some men exhibit reduced testicular volume and/or reduced testosterone level. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 75.",
"acronym": "SPGF75.",
"accession": "DI-06452",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive disorder characterized by male infertility due to non-obstructive azoospermia resulting from maturation arrest at the spermatocyte stage. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 76.",
"acronym": "SPGF76.",
"accession": "DI-06529",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by oligoasthenoteratozoospermia, and abnormally shaped spermatozoa in the semen of affected individuals. Sperm flagella have multiple morphological abnormalities, including short, absent, and irregular caliber flagella. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 77.",
"acronym": "SPGF77.",
"accession": "DI-06530",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by oligozoospermia or azoospermia, and abnormally shaped spermatozoa in the semen of affected individuals. Sperm abnormalities include double and triple tails, with amorphous or fragmented and enlarged heads, as well as pinhead sperm. Testicular tissue shows arrest at the round spermatid stage. ",
"keywords": null
}
]
}