Human Disease List
GET /api/human_diseases/?format=api&offset=1720&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1740&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1700&ordering=-identifier", "results": [ { "identifier": "Optic atrophy 1.", "acronym": "OPA1.", "accession": "DI-02097", "synonyms": "Kjer-type optic atrophy.; OAK.; Optic atrophy juvenile.; Optic atrophy Kjer type.; ", "cross_references": "MeSH; D029241.", "definition": "A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density. ", "keywords": null }, { "identifier": "Opsismodysplasia.", "acronym": "OPSMD.", "accession": "DI-03691", "synonyms": null, "cross_references": "MeSH; D010009.", "definition": "A rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges. ", "keywords": null }, { "identifier": "Opitz-Kaveggia syndrome.", "acronym": "OKS.", "accession": "DI-02095", "synonyms": "FGS.; FGS1.; FG syndrome.; FG syndrome type 1.; ", "cross_references": "MedGen; C0220769.", "definition": "X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. ", "keywords": null }, { "identifier": "Opitz GBBB syndrome.", "acronym": "GBBB.", "accession": "DI-02094", "synonyms": "BBBG1.; GGGB1.; Hypertelorism-hypospadias syndrome.; Hypertelorism with esophageal abnormality and hypospadias.; Opitz BBBG syndrome type I.; Opitz GBBB syndrome type I.; Opitz GBBB syndrome X-linked.; Opitz-G syndrome type I.; Opitz syndrome.; Opitz syndrome X-linked.; OS.; OSX.; Telecanthus-hypospadias syndrome.; ", "cross_references": "MeSH; D007021.", "definition": "A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects. ", "keywords": null }, { "identifier": "Ophthalmoplegia, external, with rib and vertebral anomalies.", "acronym": "EORVA.", "accession": "DI-05356", "synonyms": null, "cross_references": "MeSH; D009886.", "definition": "An autosomal recessive disorder characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, and vertebral and rib anomalies. ", "keywords": null }, { "identifier": "Ophthalmoacromelic syndrome.", "acronym": "OAS.", "accession": "DI-03004", "synonyms": "Anophthalmia-syndactyly.; Microphthalmia with limb anomalies.; MLA.; Waardenburg anophthalmia syndrome.; ", "cross_references": "MeSH; D008850.", "definition": "A rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases. ", "keywords": "KW-1013:Microphthalmia.; " }, { "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 21.", "acronym": "OZEMA21.", "accession": "DI-06797", "synonyms": null, "cross_references": "MeSH; D007246.", "definition": "An autosomal dominant, female infertility disorder characterized by zygote development arrest due to failure of pronuclei fusion. ", "keywords": null }, { "identifier": "Oocyte/zygote/embryo maturation arrest 20.", "acronym": "OZEMA20.", "accession": "DI-06690", "synonyms": null, "cross_references": "MeSH; D007246.", "definition": "An autosomal recessive, female infertility disorder characterized by early embryonic arrest and fragmentation. Early embryo fragmentation is defined by the presence of anucleate cell fragments derived from the blastomeres. Excessive embryo fragmentation is associated with deleterious outcomes, including decreased implantation rate. ", "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 19.", "acronym": "OZEMA19.", "accession": "DI-06662", "synonyms": null, "cross_references": "MeSH; D007246.", "definition": "An autosomal recessive female infertility disorder characterized by reduced fertilization rate, oocyte maturation arrest at germinal vesicle stage, and early embryonic arrest. ", "keywords": null }, { "identifier": "Oocyte/zygote/embryo maturation arrest 18.", "acronym": "OZEMA18.", "accession": "DI-06661", "synonyms": null, "cross_references": "MeSH; D007246.", "definition": "An autosomal recessive female infertility disorder. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development or cannot establish pregnancy after implantation. ", "keywords": null }, { "identifier": "Oocyte/zygote/embryo maturation arrest 17.", "acronym": "OZEMA17.", "accession": "DI-06643", "synonyms": null, "cross_references": "MeSH; D007246.", "definition": "A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development or cannot establish pregnancy after implantation. Inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Oocyte/zygote/embryo maturation arrest 16.", "acronym": "OZEMA16.", "accession": "DI-04914", "synonyms": "Preimplantation embryonic lethality 2.; PREMBL2.; ", "cross_references": "MeSH; D007247.", "definition": "A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development. Inheritance is autosomal recessive. ", "keywords": null } ] }