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{
"identifier": "Spermatogenic failure, X-linked, 3.",
"acronym": "SPGFX3.",
"accession": "DI-06023",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, including absent, short, coiled, and irregular-caliber flagella. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure, X-linked, 4.",
"acronym": "SPGFX4.",
"accession": "DI-06380",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "A male infertility disorder characterized by non-obstructive azoospermia or oligoasthenoteratozoospermia. Some patients present spermatogenic maturation arrest with an almost complete absence of early and late primary spermatocytes. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure, X-linked, 5.",
"acronym": "SPGFX5.",
"accession": "DI-06617",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "A male infertility disorder characterized by reduced progressive sperm motility and multiple morphologic sperm abnormalities, resulting in asthenoteratozoospermia. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure, X-linked, 6.",
"acronym": "SPGFX6.",
"accession": "DI-06618",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "A male infertility disorder due to asthenoteratozoospermia and characterized by reduced progressive sperm motility and morphologic sperm abnormalities, such as thin heads and short or coiled flagella. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure, X-linked, 7.",
"acronym": "SPGFX7.",
"accession": "DI-06634",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "A male infertility disorder characterized by a significant reduction in sperm count and motility, and aberrant sperm morphology with abnormalities of the head and flagella. Patient sperm show insufficient individualization, excessive residual cytoplasm, and defects in acrosome development. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure, X-linked, 8.",
"acronym": "SPGFX8.",
"accession": "DI-06893",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "A male infertility disorder characterized by a significant reduction in progressive sperm motility, and aberrant sperm morphology. Patient sperm show head and midpiece defects with deformed and detached acrosomes, and flagellar defects. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 30.",
"acronym": "RP30.",
"accession": "DI-00990",
"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": "Retinitis pigmentosa 28.",
"acronym": "RP28.",
"accession": "DI-02911",
"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.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Retinitis pigmentosa 27.",
"acronym": "RP27.",
"accession": "DI-00989",
"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": "Retinitis pigmentosa 26.",
"acronym": "RP26.",
"accession": "DI-00988",
"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": "Sacral agenesis with vertebral anomalies.",
"acronym": "SAVA.",
"accession": "DI-04072",
"synonyms": null,
"cross_references": "MeSH; D013122.",
"definition": "A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 25.",
"acronym": "RP25.",
"accession": "DI-00987",
"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": "Retinitis pigmentosa 23.",
"acronym": "RP23.",
"accession": "DI-04060",
"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": "Retinitis pigmentosa 20.",
"acronym": "RP20.",
"accession": "DI-00986",
"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": "Retinitis pigmentosa 19.",
"acronym": "RP19.",
"accession": "DI-00985",
"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. RP19 is characterized by choroidal atrophy. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Retinitis pigmentosa 18.",
"acronym": "RP18.",
"accession": "DI-00984",
"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": "Retinitis pigmentosa 17.",
"acronym": "RP17.",
"accession": "DI-00983",
"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": "Spinal muscular atrophy with congenital bone fractures 2.",
"acronym": "SMABF2.",
"accession": "DI-04682",
"synonyms": null,
"cross_references": "MeSH; D009134.",
"definition": "An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Retinitis pigmentosa 13.",
"acronym": "RP13.",
"accession": "DI-00980",
"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": "Retinitis pigmentosa 11.",
"acronym": "RP11.",
"accession": "DI-00978",
"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.; "
}
]
}