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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1000&ordering=-identifier",
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"results": [
{
"identifier": "Ribose 5-phosphate isomerase deficiency.",
"acronym": "RPIAD.",
"accession": "DI-02268",
"synonyms": null,
"cross_references": "MeSH; D002239.",
"definition": "An autosomal recessive inborn error of polyols metabolism characterized by highly elevated level of ribitol and arabitol in brain and body fluids. Clinical features include leukoencephalopathy, psychomotor retardation from early life, neurologic regression, and a mild sensorimotor neuropathy. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"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": "RHYNS syndrome.",
"acronym": "RHYNS.",
"accession": "DI-05440",
"synonyms": null,
"cross_references": "MeSH; D007018.",
"definition": "An autosomal recessive syndrome characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and skeletal dysplasia. ",
"keywords": "KW-0209:Deafness.; KW-0682:Retinitis pigmentosa.; KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"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 skeletal dysplasia with or without Pelger-Huet anomaly.",
"acronym": "SKPHA.",
"accession": "DI-05279",
"synonyms": "Pelger-Huet anomaly with mild skeletal anomalies.; PHASK.; Regressive spondylometaphyseal dysplasia.; ",
"cross_references": "MeSH; D010381.",
"definition": "A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes, short stature, and mild skeletal anomalies. Initial skeletal features may improve with age. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Rhizomelic limb shortening with dysmorphic features.",
"acronym": "RLSDF.",
"accession": "DI-05792",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal dysplasia characterized by rhizomelic shortening of limbs as well as variable dysmorphic features, including macrocephaly, short neck, micrognathia, mild proptosis, downslanting palpebral fissures, depressed or broad nasal bridge and long philtrum. ",
"keywords": null
},
{
"identifier": "Rhizomelic dysplasia, Ain-Naz type.",
"acronym": "RHZDAN.",
"accession": "DI-06238",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal dysplasia characterized by short stature, marked rhizomelic shortening of the limbs, platyspondyly, hip dysplasia, and large hands and feet relative to height. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"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": "Rhizomelic chondrodysplasia punctata 3.",
"acronym": "RCDP3.",
"accession": "DI-01003",
"synonyms": "AGPS deficiency.; Alkyldihydroxyacetonephosphate synthase deficiency.; Alkylglycerone-phosphate synthase deficiency.; Rhizomelic chondrodysplasia punctata, type 3.; ",
"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.; "
},
{
"identifier": "Rhizomelic chondrodysplasia punctata 2.",
"acronym": "RCDP2.",
"accession": "DI-01002",
"synonyms": "Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency.; DHAPAT deficiency.; Dihydroxyacetonephosphate acyltransferase deficiency.; Glyceronephosphate O-acyltransferase deficiency.; GNPAT deficiency.; Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency.; Rhizomelic chondrodysplasia punctata, type 2.; ",
"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.; "
},
{
"identifier": "Rhizomelic chondrodysplasia punctata 1.",
"acronym": "RCDP1.",
"accession": "DI-01001",
"synonyms": "CDPR.; Chondrodysplasia punctata, rhizomelic form.; Chondrodystrophia calcificans punctata.; PBD9.; Peroxisome biogenesis disorder 9.; Rhizomelic chondrodysplasia punctata, type 1.; ",
"cross_references": "MeSH; D018902.",
"definition": "A peroxisome biogenesis disorder. It is 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": "Rheumatoid arthritis systemic juvenile.",
"acronym": "RASJ.",
"accession": "DI-02819",
"synonyms": "Juvenile-onset Still disease.; ",
"cross_references": "MeSH; D001171.",
"definition": "An inflammatory articular disorder with systemic onset beginning before the age of 16. It represents a subgroup of juvenile arthritis associated with severe extraarticular features and occasionally fatal complications. During active phases of the disorder, patients display a typical daily spiking fever, an evanescent macular rash, lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritis. ",
"keywords": null
},
{
"identifier": "Rheumatoid arthritis.",
"acronym": "RA.",
"accession": "DI-02692",
"synonyms": null,
"cross_references": "MeSH; D001172.",
"definition": "An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. ",
"keywords": null
},
{
"identifier": "Rhegmatogenous retinal detachment autosomal dominant.",
"acronym": "DRRD.",
"accession": "DI-01000",
"synonyms": null,
"cross_references": "MeSH; D012163.",
"definition": "A eye disease that most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated. ",
"keywords": null
},
{
"identifier": "Rhabdomyosarcoma, embryonal, 2.",
"acronym": "RMSE2.",
"accession": "DI-03929",
"synonyms": null,
"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, 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": "Rhabdomyolysis 1.",
"acronym": "RHABDO1.",
"accession": "DI-06601",
"synonyms": null,
"cross_references": "MeSH; D012206.",
"definition": "An autosomal recessive disorder characterized by severe and recurrent rhabdomyolysis, usually with onset in the teenage years. Some of the episodes may be triggered by exercise or heat; others occur spontaneously. Rhabdomyolysis is the rapid breakdown of damaged or injured skeletal myofibres and may require intensive care management. Muscle breakdown results in release of myofibrillar content into the extracellular space and circulation, resulting in hyperCKemia (hyperCK) and myoglobinuria. RHABDO1 patients may have a history of myalgia and muscle cramps that precede the initial rhabdomyolysis episodes. ",
"keywords": null
},
{
"identifier": "Rhabdoid tumor predisposition syndrome 2.",
"acronym": "RTPS2.",
"accession": "DI-02895",
"synonyms": null,
"cross_references": "MeSH; D018335.",
"definition": "A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. ",
"keywords": null
},
{
"identifier": "Rhabdoid tumor predisposition syndrome 1.",
"acronym": "RTPS1.",
"accession": "DI-02266",
"synonyms": "Atypical teratoid tumor.; Malignant rhabdoid tumor somatic.; MRT.; RDT.; Rhabdoid tumor.; ",
"cross_references": "MeSH; D018335.",
"definition": "A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. ",
"keywords": null
}
]
}