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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3460&ordering=-synonyms",
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"results": [
{
"identifier": "Richieri-Costa-Pereira syndrome.",
"acronym": "RCPS.",
"accession": "DI-04063",
"synonyms": "Richieri-Costa and Pereira syndrome.; Robin sequence with cleft mandible and limb anomalies.; ",
"cross_references": "MeSH; D010855.",
"definition": "A syndrome characterized by a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding. ",
"keywords": null
},
{
"identifier": "Brown-Vialetto-Van Laere syndrome 2.",
"acronym": "BVVLS2.",
"accession": "DI-03494",
"synonyms": "Riboflavin transporter deficiency, type 2.; RTD2.; ",
"cross_references": "MeSH; D010244.",
"definition": "An autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Riboflavin deficiency.",
"acronym": "RBFVD.",
"accession": "DI-03674",
"synonyms": "Riboflavin transporter deficiency, type 1.; RTD1.; ",
"cross_references": "MeSH; D012257.",
"definition": "A disorder caused by a primary defect in riboflavin metabolism, or by dietary riboflavin deficiency. Riboflavin deficiency during pregnancy results in hypoglycemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels in the newborn. Treatment with oral riboflavin results in complete resolution of the clinical and biochemical findings. ",
"keywords": null
},
{
"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
},
{
"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": "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": "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": "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": "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": "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": "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": "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": "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": "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 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": "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, 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 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": "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.; "
}
]
}