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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3280&ordering=synonyms",
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"results": [
{
"identifier": "Restrictive dermopathy 2.",
"acronym": "RSDM2.",
"accession": "DI-06366",
"synonyms": "Restrictive dermopathy 2 , lethal.; ",
"cross_references": "MeSH; D012868.",
"definition": "An autosomal dominant form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. ",
"keywords": null
},
{
"identifier": "Tortuosity of retinal arteries.",
"acronym": "RATOR.",
"accession": "DI-04437",
"synonyms": "Retinal arteries, tortuosity of.; Retinal hemorrhage with vascular tortuosity.; ",
"cross_references": "MeSH; D012166.",
"definition": "A disease characterized by marked tortuosity of second- and third- order retinal arteries with normal first-order arteries and venous system. Most patients manifest variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 41.",
"acronym": "RP41.",
"accession": "DI-00995",
"synonyms": "Retinal degeneration autosomal recessive prominin-related.; ",
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Cone-rod dystrophy 21.",
"acronym": "CORD21.",
"accession": "DI-04505",
"synonyms": "Retinal dystrophy with early macular involvement.; ",
"cross_references": "MeSH; D058499.",
"definition": "A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Cone-rod dystrophy 16.",
"acronym": "CORD16.",
"accession": "DI-03355",
"synonyms": "Retinal dystrophy with early macular involvement.; ",
"cross_references": "MeSH; D000071700.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Retinitis pigmentosa 7.",
"acronym": "RP7.",
"accession": "DI-00975",
"synonyms": "Retinitis pigmentosa 7 digenic.; ",
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness.",
"acronym": "RPSRDF.",
"accession": "DI-00997",
"synonyms": "Retinitis pigmentosa and sinorespiratory infections with or without deafness.; RPDSI.; X-linked retinitis pigmentosa with deafness and sinorespiratory infections.; ",
"cross_references": "MeSH; D002925.",
"definition": "A disease characterized by the association of retinitis pigmentosa with recurrent upper and lower airway infections. Some patients also develop progressive hearing loss. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Retinitis pigmentosa 46.",
"acronym": "RP46.",
"accession": "DI-00996",
"synonyms": "Retinitis pigmentosa autosomal recessive IDH3B-related.; ",
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Retinitis pigmentosa 50.",
"acronym": "RP50.",
"accession": "DI-01386",
"synonyms": "Retinitis pigmentosa concentric.; ",
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Leber congenital amaurosis 14.",
"acronym": "LCA14.",
"accession": "DI-02683",
"synonyms": "Retinitis pigmentosa juvenile LRAT-related.; Severe early-onset retinal dystrophy LRAT-related.; ",
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; "
},
{
"identifier": "Retinitis pigmentosa 14.",
"acronym": "RP14.",
"accession": "DI-00981",
"synonyms": "Retinitis pigmentosa juvenile TULP1-related.; ",
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Retinitis pigmentosa 12.",
"acronym": "RP12.",
"accession": "DI-00979",
"synonyms": "Retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium.; RP with or without PPRPE.; RP with or without preserved paraarteriole retinal pigment epithelium.; ",
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Rhabdomyosarcoma, embryonal, 1.",
"acronym": "RMSE1.",
"accession": "DI-02267",
"synonyms": "Rhabdomyosarcoma 1.; RMS1.; ",
"cross_references": "MeSH; D018233.",
"definition": "A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. ",
"keywords": null
},
{
"identifier": "Rhabdomyosarcoma 2.",
"acronym": "RMS2.",
"accession": "DI-02699",
"synonyms": "Rhabdomyosarcoma alveolar.; RMSA.; ",
"cross_references": "MeSH; D018232.",
"definition": "A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. ",
"keywords": null
},
{
"identifier": "Regulator type Rh-null hemolytic anemia.",
"acronym": "RHN.",
"accession": "DI-02251",
"synonyms": "Rh-deficiency syndrome.; ",
"cross_references": "MedGen; C1849387.",
"definition": "Form of chronic hemolytic anemia in which the red blood cells have a stomatocytosis and spherocytosis morphology, an increased osmotic fragility, an altered ion transport system, and abnormal membrane phospholipid organization. ",
"keywords": null
},
{
"identifier": "Hemolytic disease of fetus and newborn, RH-induced.",
"acronym": "HDFNRH.",
"accession": "DI-06174",
"synonyms": "RH disease.; RH fetomaternal incompatibility.; ",
"cross_references": "MeSH; D004899.",
"definition": "A disease that occurs in pregnancies in which mothers who lack the D antigen (RhD) of the Rh blood group have been exposed to the RhD- positive red cells of the fetus. The resulting maternal autoantibodies cross the placenta and destroy fetal red cells. ",
"keywords": null
},
{
"identifier": "Rhizomelic chondrodysplasia punctata 5.",
"acronym": "RCDP5.",
"accession": "DI-04602",
"synonyms": "Rhizomelic chondrodysplasia punctata, type 5.; ",
"cross_references": "MeSH; D018902.",
"definition": "A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity. ",
"keywords": "KW-0685:Rhizomelic chondrodysplasia punctata.; KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Rh-null, amorph type.",
"acronym": "RHNA.",
"accession": "DI-05246",
"synonyms": "Rh-null disease, amorph type.; Rh-null syndrome, amorph type.; ",
"cross_references": "MeSH; D012204.",
"definition": "An autosomal recessive condition characterized by red blood cells that lack all Rh antigens, have increased osmotic fragility, diminished lifespan, and show changes in morphology resulting in stomatocytosis. Rh-null individuals have mild to moderate hemolytic anemia. They are at risk of having adverse reactions in response to transfusion or pregnancy, because they may produce antibodies against several of the Rh antigens. ",
"keywords": null
},
{
"identifier": "Night blindness, congenital stationary, autosomal dominant 1.",
"acronym": "CSNBAD1.",
"accession": "DI-00371",
"synonyms": "Rhodopsin-related congenital stationary night blindness.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Renal-hepatic-pancreatic dysplasia 1.",
"acronym": "RHPD1.",
"accession": "DI-02259",
"synonyms": "RHPD.; ",
"cross_references": "MeSH; D000015.",
"definition": "A disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates. ",
"keywords": null
}
]
}