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{
"identifier": "Spermatogenic failure 78.",
"acronym": "SPGF78.",
"accession": "DI-06569",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive, male infertility disorder characterized by a high proportion of sperm head anomalies, primarily tapered and microcephalic heads, and an abnormal acrosome structure. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 79.",
"acronym": "SPGF79.",
"accession": "DI-06579",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive, male infertility disorder characterized by asthenoteratozoospermia with acrosome hypoplasia, disruption of the mitochondrial sheath, and reduced progressive sperm motility. The disorder is due to an abnormal acrosome reaction and impaired membrane potential after capacitation. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 8.",
"acronym": "SPGF8.",
"accession": "DI-03124",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 80.",
"acronym": "SPGF80.",
"accession": "DI-06580",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive, male infertility disorder characterized by reduced or absent progressive sperm motility due to multiple morphologic abnormalities of the flagella, including short, coiled, absent, and irregular-caliber flagella. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 81.",
"acronym": "SPGF81.",
"accession": "DI-06619",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "A male infertility disorder due to oligoasthenoteratozoospermia and characterized by reduced progressive sperm motility. Patient spermatozoa exhibit acrosomal hypoplasia and detachment of the acrosome from the sperm head. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 82.",
"acronym": "SPGF82.",
"accession": "DI-06667",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by asthenoteratozoospermia and multiple morphologic abnormalities of the sperm flagella. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 83.",
"acronym": "SPGF83.",
"accession": "DI-06668",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by asthenoteratozoospermia. Patient sperm exhibit an asymmetric fibrous sheath of the flagella. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 84.",
"acronym": "SPGF84.",
"accession": "DI-06699",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility. Some patients also have a reduced sperm count. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 85.",
"acronym": "SPGF85.",
"accession": "DI-06752",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by globozoospermia and reduced progressive sperm motility. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 86.",
"acronym": "SPGF86.",
"accession": "DI-06755",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 87.",
"acronym": "SPGF87.",
"accession": "DI-06756",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive male infertility disorder characterized by inability of mutant sperm to penetrate the zona pellucida, resulting in fertilization failure. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 33.",
"acronym": "RP33.",
"accession": "DI-02672",
"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 90.",
"acronym": "SPGF90.",
"accession": "DI-06862",
"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 91.",
"acronym": "SPGF91.",
"accession": "DI-06898",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive, male infertility disorder due to globozoospermia and asthenoteratozoospermia. Patient sperm show defects of the head, including a misshapen rounded head and detachment of the acrosome, and the sperm fail to attach to the zona pellucida of the egg. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 92.",
"acronym": "SPGF92.",
"accession": "DI-06909",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive, male infertility disorder characterized by asthenozoospermia and defects of the radial spokes and doublet microtubules of sperm flagellum observed by ultrastructural analysis. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 93.",
"acronym": "SPGF93.",
"accession": "DI-06910",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive, male infertility disorder characterized by asthenozoospermia and multiple morphologic abnormalities of the sperm flagella. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 94.",
"acronym": "SPGF94.",
"accession": "DI-06911",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive, male infertility disorder characterized by reduced progressive sperm motility and multiple morphologic abnormalities of the flagella, including irregularly shaped, short, absent, coiled, and multiple tails. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 32.",
"acronym": "RP32.",
"accession": "DI-05880",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A form of retinitis pigmentosa, 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. RP32 inheritance is autosomal recessive. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Spermatogenic failure, 15.",
"acronym": "SPGF15.",
"accession": "DI-04721",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects and characterized by non-obstructive azoospermia due to complete meiotic maturation arrest. SPGF15 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 31.",
"acronym": "RP31.",
"accession": "DI-00991",
"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.; "
}
]
}