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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5760",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5720",
"results": [
{
"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": "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": "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": "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": "Rickets vitamin D-dependent 1A.",
"acronym": "VDDR1A.",
"accession": "DI-02414",
"synonyms": "1-alpha 25-hydroxyvitamin D3 deficiency selective.; 1-alpha-hydroxylase deficiency.; 25-hydroxycholecalciferol-1-hydroxylase deficiency.; PDDR.; PDDR1A.; PDDR IA.; Pseudovitamin D deficiency rickets.; Pseudovitamin D-deficiency rickets type IA.; VDD1.; Vitamin D dependency type 1.; ",
"cross_references": "MeSH; D012279.",
"definition": "A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. ",
"keywords": null
},
{
"identifier": "Rickets vitamin D-dependent 1B.",
"acronym": "VDDR1B.",
"accession": "DI-00008",
"synonyms": "25-hydroxyvitamimn D3 deficiency selective.; 25-hydroxyvitamin D(3) deficiency.; Pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency.; Selective 25-hydroxyvitamin D(3) deficiency.; ",
"cross_references": "MeSH; D012279.",
"definition": "An autosomal recessive disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25-hydroxyvitamin D. ",
"keywords": null
},
{
"identifier": "Rickets vitamin D-dependent 2A.",
"acronym": "VDDR2A.",
"accession": "DI-02398",
"synonyms": "Generalized resistance to 1,25-dihydroxyvitamin D.; HVDRR.; Hypocalcemic vitamin D-resistant rickets.; PDDR IIA.; Pseudovitamin D-deficiency type IIA.; Rickets-alopecia syndrome.; Rickets hereditary vitamin D-resistant.; Type IIA rickets.; Vitamin D-dependent rickets type 2A with or without alopecia.; Vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol.; ",
"cross_references": "MeSH; D012279.",
"definition": "A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets. ",
"keywords": null
},
{
"identifier": "Riddle syndrome.",
"acronym": "RIDL.",
"accession": "DI-02269",
"synonyms": "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties.; ",
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disorder characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature. ",
"keywords": null
},
{
"identifier": "Right atrial isomerism.",
"acronym": "RAI.",
"accession": "DI-03896",
"synonyms": "Asplenia with cardiovascular anomalies.; Heterotaxy, visceroatrial, autosomal recessive.; Ivemark syndrome.; Polyasplenia.; VAH, autosomal recessive.; ",
"cross_references": "MeSH; D059446.",
"definition": "A severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. ",
"keywords": null
},
{
"identifier": "Rigidity and multifocal seizure syndrome, lethal neonatal.",
"acronym": "RMFSL.",
"accession": "DI-03404",
"synonyms": null,
"cross_references": "MeSH; D012640.",
"definition": "A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Ring dermoid of cornea.",
"acronym": "RDC.",
"accession": "DI-02729",
"synonyms": null,
"cross_references": "MeSH; D003884.",
"definition": "An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. ",
"keywords": null
},
{
"identifier": "Rippling muscle disease 2.",
"acronym": "RMD2.",
"accession": "DI-02270",
"synonyms": "LGMD1C.; Limb-girdle muscular dystrophy 1C.; Muscular dystrophy, limb-girdle, type 1C.; ",
"cross_references": "MeSH; D009135.",
"definition": "A disorder characterized by mechanically triggered contractions of skeletal muscle. Mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers and cause visible ripples to move over the muscle. RMD2 inheritance is autosomal dominant or autosomal recessive. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"identifier": "Ritscher-Schinzel syndrome 1.",
"acronym": "RTSC1.",
"accession": "DI-04011",
"synonyms": "3C syndrome.; Craniocerebellocardiac dysplasia.; Dandy-Walker-like malformation with atrioventricular septal defect.; ",
"cross_references": "MeSH; D019465.",
"definition": "A developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Ritscher-Schinzel syndrome 2.",
"acronym": "RTSC2.",
"accession": "DI-04573",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. RTSC2 is an X-linked recessive form characterized by intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Ritscher-Schinzel syndrome 3.",
"acronym": "RTSC3.",
"accession": "DI-05996",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. RTSC3 is an autosomal recessive form. Affected individuals show cranio-cerebello-cardiac anomalies, coloboma, microphthalmia, chondrodysplasia punctata, complicated skeletal malformations, periventricular nodular heterotopia and proteinuria. ",
"keywords": null
},
{
"identifier": "Ritscher-Schinzel syndrome 4.",
"acronym": "RTSC4.",
"accession": "DI-06167",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An autosomal dominant form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain anomalies associated with global developmental delay and impaired intellectual development, congenital heart defects, and craniofacial abnormalities. ",
"keywords": null
},
{
"identifier": "Roberts-SC phocomelia syndrome.",
"acronym": "RBS.",
"accession": "DI-02272",
"synonyms": "Long bone deficiencies associated with cleft lip-palate.; Roberts syndrome.; SC phocomelia syndrome.; SC pseudothalidomide syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disorder characterized by pre- and postnatal growth retardation, intellectual disability, microcephaly, bilateral cleft lip and cleft palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. Patient chromosomes have a lack of cohesion involving heterochromatic C-banding regions around centromeres and the heterochromatin regions on the 1, 9, 16, and Y chromosomes. These findings are referred to as premature centromere separation (PCS) and heterochromatin repulsion (HR), and they are important for the diagnosis of the syndrome. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Robinow-Sorauf syndrome.",
"acronym": "RSS.",
"accession": "DI-01004",
"synonyms": "Acrocephalosyndactyly Robinow-Sorauf type.; Craniosynostosis-bifid hallux syndrome.; ",
"cross_references": "MeSH; D000168.",
"definition": "An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Robinow syndrome, autosomal dominant 1.",
"acronym": "DRS1.",
"accession": "DI-03227",
"synonyms": "Acral dysostosis with facial and genital abnormalities.; Fetal face syndrome.; Robinow dwarfism.; ",
"cross_references": "MeSH; D019465.",
"definition": "A disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally milder in dominant cases. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Robinow syndrome, autosomal dominant 2.",
"acronym": "DRS2.",
"accession": "DI-04392",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, costovertebral segmentation defects, and renal anomalies. ",
"keywords": "KW-0242:Dwarfism.; "
}
]
}