Human Disease List
GET /api/human_diseases/?format=api&offset=1740&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1760&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1720&ordering=-identifier", "results": [ { "identifier": "Oocyte/zygote/embryo maturation arrest 15.", "acronym": "OZEMA15.", "accession": "DI-04651", "synonyms": "Preimplantation embryonic lethality 1.; PREMBL1.; ", "cross_references": "MeSH; D007247.", "definition": "A rare cause of female primary infertility. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation and division are severely impaired. Inheritance is autosomal recessive. ", "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": "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": "Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome.", "acronym": "OORS.", "accession": "DI-06139", "synonyms": "Glycosylphosphatidylinositol biosynthesis defect 24.; GPIBD24.; OORS syndrome.; ", "cross_references": "MeSH; D012640.", "definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, seizures or tonic posturing, dysmorphic facial features, and hypoplastic terminal phalanges and nails. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Omphalocele, autosomal.", "acronym": "OMPHA.", "accession": "DI-03657", "synonyms": "Chromosome 1p31 duplication syndrome.; Omphalocele due to duplication of 1p31.3.; ", "cross_references": "MeSH; D006554.", "definition": "An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane- covered internal organs into the open base of the umbilical cord. It appears as a skin-covered protrusion at the umbilicus during crying, coughing, or straining. ", "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": "Omodysplasia 1.", "acronym": "OMOD1.", "accession": "DI-02618", "synonyms": "Micromelic dysplasia congenital with dislocation of radius.; Omodysplasia autosomal recessive.; Omodysplasia generalized form.; ", "cross_references": "MeSH; D010009.", "definition": "A rare autosomal recessive skeletal dysplasia characterized by facial dysmorphism and severe congenital micromelia with shortening and distal tapering of the humeri and femora, to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Omenn syndrome.", "acronym": "OS.", "accession": "DI-02093", "synonyms": null, "cross_references": "MedGen; C2931884.", "definition": "Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels. ", "keywords": null }, { "identifier": "Olmsted syndrome, X-linked.", "acronym": "OLMSX.", "accession": "DI-04106", "synonyms": "Mutilating palmoplantar keratoderma with periorificial keratotic plaques, X-linked.; PPKMX.; ", "cross_references": "MeSH; D007645.", "definition": "A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Olmsted syndrome 2.", "acronym": "OLMS2.", "accession": "DI-06019", "synonyms": "Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2.; PPKM2.; ", "cross_references": "MeSH; D007645.", "definition": "A form of Olmsted syndrome, a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. OLMS2 is an autosomal dominant form with onset in the first months of life or in early childhood. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Olmsted syndrome 1.", "acronym": "OLMS1.", "accession": "DI-03430", "synonyms": "Mutilating palmoplantar keratoderma with periorificial keratotic plaques.; ", "cross_references": "MeSH; D007645.", "definition": "An autosomal dominant, rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Oliver-McFarlane syndrome.", "acronym": "OMCS.", "accession": "DI-04369", "synonyms": "Congenital trichomegaly, pigmentary retinal degeneration, and short stature.; Trichomegaly, retina pigmentary degeneration, dwarfism.; Trichomegaly retina pigmentary degeneration dwarfism.; ", "cross_references": "MeSH; D058499.", "definition": "A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy. ", "keywords": "KW-0242:Dwarfism.; KW-0682:Retinitis pigmentosa.; KW-0991:Intellectual disability.; " }, { "identifier": "Oligodontia-colorectal cancer syndrome.", "acronym": "ODCRCS.", "accession": "DI-02092", "synonyms": null, "cross_references": "MedGen; C1837750.", "definition": "Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types. ", "keywords": null }, { "identifier": "Okur-Chung neurodevelopmental syndrome.", "acronym": "OCNDS.", "accession": "DI-04799", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and variable dysmorphic features. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Ohdo syndrome, X-linked.", "acronym": "OHDOX.", "accession": "DI-03741", "synonyms": "Ohdo syndrome Maat-Kievit-Brunner type.; Ohdo syndrome MKB type.; ", "cross_references": "MeSH; D016569.", "definition": "A syndrome characterized by intellectual disability, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth. Dental hypoplasia and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Ohdo syndrome, SBBYS variant.", "acronym": "SBBYSS.", "accession": "DI-03311", "synonyms": "Say-Barber-Biesecker variant of Ohdo syndrome.; Say-Barber-Biesecker-Young-Simpson syndrome.; Young-Simpson syndrome.; YSS.; ", "cross_references": "MeSH; D016569.", "definition": "A syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Optic atrophy and conductive or sensorineural deafness are repeatedly reported. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe intellectual disability, delayed motor milestones, and significantly impaired speech. ", "keywords": null } ] }