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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6580&ordering=synonyms",
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"results": [
{
"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": "Usher syndrome 3B.",
"acronym": "USH3B.",
"accession": "DI-03383",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"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": "Usmani-Riazuddin syndrome, autosomal dominant.",
"acronym": "USRISD.",
"accession": "DI-06259",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities. More variable additional features may include seizures and distal limb anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Usmani-Riazuddin syndrome, autosomal recessive.",
"acronym": "USRISR.",
"accession": "DI-06260",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities. More variable additional features may include seizures, scoliosis, and joint laxity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "UV-sensitive syndrome 1.",
"acronym": "UVSS1.",
"accession": "DI-02407",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. ",
"keywords": null
},
{
"identifier": "UV-sensitive syndrome 2.",
"acronym": "UVSS2.",
"accession": "DI-03443",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. ",
"keywords": null
},
{
"identifier": "UV-sensitive syndrome 3.",
"acronym": "UVSS3.",
"accession": "DI-03444",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. ",
"keywords": null
},
{
"identifier": "VACTERL association.",
"acronym": "VACTERL.",
"accession": "DI-02577",
"synonyms": null,
"cross_references": "MedGen; C1735591.",
"definition": "VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects. ",
"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 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": "Van Buchem disease 2.",
"acronym": "VBCH2.",
"accession": "DI-01122",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "VBCH2 is an autosomal dominant sclerosing bone dysplasia characterized by cranial osteosclerosis, thickened calvaria and cortices of long bones, enlarged mandible and normal serum alkaline phosphatase levels. ",
"keywords": null
},
{
"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": "Van der Woude syndrome 2.",
"acronym": "VWS2.",
"accession": "DI-03278",
"synonyms": null,
"cross_references": "MeSH; D002972.",
"definition": "An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. ",
"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": "Ovarian hyperstimulation syndrome.",
"acronym": "OHSS.",
"accession": "DI-02117",
"synonyms": null,
"cross_references": "MedGen; C0085083.",
"definition": "Disorder which occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis. ",
"keywords": null
},
{
"identifier": "Van Maldergem syndrome 2.",
"acronym": "VMLDS2.",
"accession": "DI-03983",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"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, childhood- or juvenile-onset, with developmental delay.",
"acronym": "OPDD.",
"accession": "DI-06432",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by decreased bone mass and deterioration of bone microarchitecture, fragile bones, recurrent fractures following minor trauma, and developmental delay of variable severity. ",
"keywords": null
}
]
}