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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3680&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3640&ordering=-synonyms",
"results": [
{
"identifier": "C syndrome.",
"acronym": "CSYN.",
"accession": "DI-01303",
"synonyms": "Opitz trigonocephaly syndrome.; Trigonocephaly syndrome.; ",
"cross_references": "MeSH; D003398.",
"definition": "A syndrome characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 9.",
"acronym": "OZEMA9.",
"accession": "DI-05912",
"synonyms": "Oocyte maturation defect 9.; OOMD9.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal recessive infertility disorder due to oocyte meiotic arrest at metaphase I. Abnormal zygotic cleavage has been observed in some patients. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 8.",
"acronym": "OZEMA8.",
"accession": "DI-05911",
"synonyms": "Oocyte maturation defect 8.; OOMD8.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal recessive infertility disorder due to failure of the fertilized ovum to undergo zygotic cleavage. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 7.",
"acronym": "OZEMA7.",
"accession": "DI-05642",
"synonyms": "Oocyte maturation defect 7.; OOMD7.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal dominant infertility disorder due to oocyte degeneration and death, which may occur before or after fertilization. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 6.",
"acronym": "OZEMA6.",
"accession": "DI-05501",
"synonyms": "Oocyte maturation defect 6.; OOMD6.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal recessive infertility disorder characterized by oocyte fertilization failure, due to defective sperm-binding to an abnormally thin zona pellucida in patient oocytes. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 5.",
"acronym": "OZEMA5.",
"accession": "DI-05264",
"synonyms": "Oocyte maturation defect 5.; OOMD5.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal recessive infertility disorder characterized by oocyte inability to exit metaphase II, resulting in fertilization failure. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 4.",
"acronym": "OZEMA4.",
"accession": "DI-05112",
"synonyms": "Oocyte maturation defect 4.; OOMD4.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal recessive infertility disorder characterized by oocyte maturation arrest that can occur at different stages of maturation. Some oocytes exhibit maturation arrest at the germinal vesicle stage and others at the metaphase I stage. Oocytes progressing to polar body I either undergo fertilization failure or, in those that are fertilized, early embryonic arrest. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 3.",
"acronym": "OZEMA3.",
"accession": "DI-05111",
"synonyms": "Oocyte maturation defect 3.; OOMD3.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal dominant infertility disorder characterized by abnormal oocytes that lack the zona pellucida, and oocytes degeneration. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 2.",
"acronym": "OZEMA2.",
"accession": "DI-04613",
"synonyms": "Oocyte maturation defect 2.; OOMD2.; ",
"cross_references": "MeSH; D007247.",
"definition": "A primary infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. OOMD2 inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 1.",
"acronym": "OZEMA1.",
"accession": "DI-04091",
"synonyms": "Oocyte maturation defect 1.; OOMD.; OOMD1.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal recessive infertility disorder caused by defective oocyte maturation that results in abnormal eggs lacking a zona pellucida. Affected females have normal menstrual cycles and sex hormone levels, no obstruction in the fallopian tubes or abnormalities of the uterus or adnexa. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 14.",
"acronym": "OZEMA14.",
"accession": "DI-06627",
"synonyms": "Oocyte maturation defect 14.; OOMD14.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal recessive female infertility disorder characterized by oocyte maturation arrest, fertilization failure, and/or early embryonic arrest. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 13.",
"acronym": "OZEMA13.",
"accession": "DI-06561",
"synonyms": "Oocyte maturation defect 13.; OOMD13.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal recessive female infertility disorder characterized by embryonic development arrest and embryo implantation failure. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 12.",
"acronym": "OZEMA12.",
"accession": "DI-06313",
"synonyms": "Oocyte maturation defect 12.; OOMD12.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal recessive disorder characterized by infertility due to early embryonic arrest. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 11.",
"acronym": "OZEMA11.",
"accession": "DI-06281",
"synonyms": "Oocyte maturation defect 11.; OOMD11.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal recessive disorder characterized by decreased or absent fertility and poor embryonic outcomes with assisted reproductive technology. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 10.",
"acronym": "OZEMA10.",
"accession": "DI-06030",
"synonyms": "Oocyte maturation defect 10.; OOMD10.; ",
"cross_references": "MeSH; D007247.",
"definition": "An autosomal recessive infertility disorder due to abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus, and early embryonic arrest. ",
"keywords": null
},
{
"identifier": "Nail-patella syndrome.",
"acronym": "NPS.",
"accession": "DI-02026",
"synonyms": "Onychoosteodysplasia.; ",
"cross_references": "MedGen; C0027341.",
"definition": "Disease that cause abnormal skeletal patterning and renal dysplasia. ",
"keywords": null
},
{
"identifier": "Omodysplasia 2.",
"acronym": "OMOD2.",
"accession": "DI-05491",
"synonyms": "Omodysplasia, autosomal dominant.; ",
"cross_references": "MeSH; D010009.",
"definition": "A rare autosomal dominant skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies. ",
"keywords": null
},
{
"identifier": "Occult macular dystrophy.",
"acronym": "OCMD.",
"accession": "DI-03012",
"synonyms": "OMD.; ",
"cross_references": "MeSH; D008268.",
"definition": "An inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina. ",
"keywords": null
},
{
"identifier": "Pontocerebellar hypoplasia 5.",
"acronym": "PCH5.",
"accession": "DI-04348",
"synonyms": "Olivopontocerebellar hypoplasia, fetal-onset.; Pontocerebellar hypoplasia type 5.; ",
"cross_references": "MeSH; D002526.",
"definition": "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinocerebellar ataxia, X-linked 1.",
"acronym": "SCAX1.",
"accession": "DI-03640",
"synonyms": "Olivopontocerebellar atrophy X-linked.; OPCAX.; OPCA X-linked.; ",
"cross_references": "MeSH; D009849.",
"definition": "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia. ",
"keywords": "KW-0523:Neurodegeneration.; "
}
]
}