{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1640&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1600&ordering=-identifier","results":[{"identifier":"Ovarian dysgenesis 6.","acronym":"ODG6.","accession":"DI-05300","synonyms":null,"cross_references":"MeSH; D023961.","definition":"A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG6 is an autosomal recessive condition. ","keywords":null},{"identifier":"Ovarian dysgenesis 5.","acronym":"ODG5.","accession":"DI-05092","synonyms":null,"cross_references":"MeSH; D023961.","definition":"A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG5 is an autosomal recessive condition. ","keywords":null},{"identifier":"Ovarian dysgenesis 4.","acronym":"ODG4.","accession":"DI-04296","synonyms":null,"cross_references":"MeSH; D023961.","definition":"A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG4 is an autosomal recessive condition. ","keywords":null},{"identifier":"Ovarian dysgenesis 3.","acronym":"ODG3.","accession":"DI-03287","synonyms":null,"cross_references":"MeSH; D023961.","definition":"A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ","keywords":null},{"identifier":"Ovarian dysgenesis 2.","acronym":"ODG2.","accession":"DI-02116","synonyms":"Ovarian failure hypergonadotropic due to ovarian dysgenesis.; X-linked hypergonadotropic ovarian dysgenesis.; ","cross_references":"MeSH; D023961.","definition":"A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ","keywords":null},{"identifier":"Ovarian dysgenesis 10.","acronym":"ODG10.","accession":"DI-06394","synonyms":null,"cross_references":"MeSH; D023961.","definition":"An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ","keywords":null},{"identifier":"Ovarian dysgenesis 1.","acronym":"ODG1.","accession":"DI-02115","synonyms":"Gonadal dysgenesis XX type.; Hypergonadotropic ovarian dysgenesis autosomal recessive.; Hypergonadotropic ovarian dysgenesis with normal karyotype.; Hypergonadotropic ovarian failure.; XXGD.; XX gonadal dysgenesis.; ","cross_references":"MeSH; D023961.","definition":"An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle- stimulating hormone (FSH) and luteinizing hormone (LH). ","keywords":null},{"identifier":"Ovarian cancer.","acronym":"OC.","accession":"DI-01655","synonyms":"Epithelial ovarian cancer.; ","cross_references":"MeSH; D010051.","definition":"The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. ","keywords":null},{"identifier":"Ovalocytosis, Southeast Asian.","acronym":"SAO.","accession":"DI-00448","synonyms":"EL4.; Elliptocytosis, stomatocytic hereditary.; Elliptocytosis 4.; HE, stomatocytic.; Ovalocytosis, Malaysian-Melanesian-Filipino type.; Ovalocytosis, SA type.; ","cross_references":"MeSH; D004612.","definition":"An autosomal dominant hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic. ","keywords":"KW-0250:Elliptocytosis.; "},{"identifier":"Otospondylomegaepiphyseal dysplasia, autosomal recessive.","acronym":"OSMEDB.","accession":"DI-01254","synonyms":"Chondrodystrophy with sensorineural deafness.; Insley-Astley syndrome.; Nance-Insley syndrome.; Nance-Sweeney chondrodysplasia.; OSMED.; ","cross_references":"MeSH; D010009.","definition":"An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. ","keywords":null},{"identifier":"Otospondylomegaepiphyseal dysplasia, autosomal dominant.","acronym":"OSMEDA.","accession":"DI-01093","synonyms":"Heterozygous OSMED.; Pierre Robin syndrome with fetal chondrodysplasia.; Stickler-like syndrome.; Stickler syndrome 3.; Stickler syndrome non-ocular type.; Stickler syndrome type III.; STL3.; Weissenbacher-Zweymueller syndrome.; WZS.; ","cross_references":"MeSH; D003240.","definition":"An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. ","keywords":"KW-0209:Deafness.; KW-0757:Stickler syndrome.; "},{"identifier":"Otosclerosis 12.","acronym":"OTSC12.","accession":"DI-06878","synonyms":null,"cross_references":"MeSH; D010040.","definition":"A form of otosclerosis, a pathological condition of the ear characterized by formation of spongy bone in the labyrinth capsule, especially in front of and posterior to the footplate of the stapes, resulting in conductive hearing impairment. Cochlear otosclerosis may also develop, resulting in sensorineural hearing loss. OTSC12 is an autosomal dominant form with incomplete penetrance. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Otosclerosis 11.","acronym":"OTSC11.","accession":"DI-06789","synonyms":null,"cross_references":"MeSH; D010040.","definition":"A form of otosclerosis, a pathological condition of the ear characterized by formation of spongy bone in the labyrinth capsule, especially in front of and posterior to the footplate of the stapes, resulting in conductive hearing impairment. Cochlear otosclerosis may also develop, resulting in sensorineural hearing loss. OTSC11 is an autosomal dominant form characterized by onset of progressive deafness in the second to third decade of life. Deafness ranges from moderate to severe, and may be conductive, sensorineural, or mixed. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Otopalatodigital syndrome 2.","acronym":"OPD2.","accession":"DI-02114","synonyms":"Cranioorodigital syndrome.; ","cross_references":"MedGen; C1844696.","definition":"Congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects. ","keywords":null},{"identifier":"Otopalatodigital syndrome 1.","acronym":"OPD1.","accession":"DI-02113","synonyms":null,"cross_references":"MedGen; C2748919.","definition":"X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto- palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a similar phenotypic spectrum. ","keywords":null},{"identifier":"Otofaciocervical syndrome 2, with T-cell deficiency.","acronym":"OTFCS2.","accession":"DI-03986","synonyms":"OFC2.; ","cross_references":"MeSH; D000015.","definition":"An autosomal recessive disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. Some patients also exhibit altered thymus development with T-cell immunodeficiency. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Otofaciocervical syndrome 1.","acronym":"OTFCS1.","accession":"DI-02112","synonyms":"OFC.; OFC1.; OTFCS.; Oto-facio-cervical syndrome.; ","cross_references":"MeSH; D000015.","definition":"A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Otitis media.","acronym":"OM.","accession":"DI-05294","synonyms":"COME/ROM.; OMS.; Otitis media, chronic/recurrent.; ","cross_references":"MeSH; D010033.","definition":"An inflammation of the middle ear resulting in earache, fever, hearing disturbance, and vertigo. ","keywords":null},{"identifier":"Osteosclerotic metaphyseal dysplasia.","acronym":"OSMD.","accession":"DI-06297","synonyms":null,"cross_references":"MeSH; D010026.","definition":"An autosomal recessive skeletal dysplasia characterized by osteosclerosis at multiple skeletal sites, predominantly at the metaphyses of the long bones and vertebral bodies. ","keywords":null},{"identifier":"Osteoporosis-pseudoglioma syndrome.","acronym":"OPPG.","accession":"DI-02111","synonyms":"OPS.; Osteogenesis imperfecta ocular form.; ","cross_references":"MeSH; D010013.","definition":"A disease characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, intellectual disability and hypotonia. ","keywords":"KW-1065:Osteogenesis imperfecta.; "}]}