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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4100&ordering=synonyms",
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"results": [
{
"identifier": "Joubert syndrome 11.",
"acronym": "JBTS11.",
"accession": "DI-03108",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Microcephaly, epilepsy, and diabetes syndrome 1.",
"acronym": "MEDS1.",
"accession": "DI-03273",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0887:Epilepsy.; "
},
{
"identifier": "Joubert syndrome 10.",
"acronym": "JBTS10.",
"accession": "DI-02504",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.",
"acronym": "MFRG.",
"accession": "DI-05346",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant syndrome characterized by primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and unilateral renal agenesis. Variable brain, cardiac, and skeletal anomalies are present, including corpus callosum agenesis or dysgenesis, lissencephaly, atrial and ventricular septal defects, patent ductus arteriosus, hypoplastic right ventricle, and joint contractures. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly, growth deficiency, seizures, and brain malformations.",
"acronym": "MIGSB.",
"accession": "DI-05506",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth deficiency, microcephaly, facial dysmorphism, early-onset seizures, brain malformations such as partial agenesis of the corpus callosum and simplified gyration, and poor or absent psychomotor development. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Microcephaly, postnatal progressive, with seizures and brain atrophy.",
"acronym": "MCPHSBA.",
"accession": "DI-02983",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth. ",
"keywords": null
},
{
"identifier": "Cataract 20, multiple types.",
"acronym": "CTRCT20.",
"accession": "DI-03776",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Atrial fibrillation, familial, 3.",
"acronym": "ATFB3.",
"accession": "DI-00146",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Joint laxity, short stature, and myopia.",
"acronym": "JLSM.",
"accession": "DI-05096",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "An autosomal recessive disease characterized by generalized joint laxity, joint dislocation, pectus carinatum, short stature, and severe myopia with retinal detachment. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Deafness, autosomal recessive, 89.",
"acronym": "DFNB89.",
"accession": "DI-03865",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by bilateral, prelingual, moderate to severe hearing loss affecting all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Joint contractures, osteochondromas, and B-cell lymphoma.",
"acronym": "JCOSL.",
"accession": "DI-06599",
"synonyms": null,
"cross_references": "MeSH; D016393.",
"definition": "An autosomal recessive disorder characterized by musculoskeletal and hematopoietic issues. Affected individuals develop painless fixed joint contractures in early childhood, have osteochondromas, osteopenia, and can develop B-cell lymphomas. ",
"keywords": null
},
{
"identifier": "Johanson-Blizzard syndrome.",
"acronym": "JBS.",
"accession": "DI-01849",
"synonyms": null,
"cross_references": "MedGen; C0175692.",
"definition": "This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and intellectual disability. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal recessive, 88.",
"acronym": "DFNB88.",
"accession": "DI-03888",
"synonyms": null,
"cross_references": "MeSH; D046089.",
"definition": "A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Microcephaly-micromelia syndrome.",
"acronym": "MIMIS.",
"accession": "DI-05053",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A severe autosomal recessive disorder characterized by intrauterine growth restriction, marked microcephaly, craniofacial anomalies, skeletal dysplasia, and variable malformations of the limbs, particularly the upper limbs. It usually results in death in utero or in the perinatal period. ",
"keywords": null
},
{
"identifier": "Jeffries-Lakhani neurodevelopmental syndrome.",
"acronym": "JELANS.",
"accession": "DI-06870",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by developmental delay, early-onset epilepsy, and hypotonia apparent from infancy. Clinical features include motor delay, speech delay, and impaired intellectual development. About half of patients are non- ambulatory and/or non-verbal. Some patients have cardiac rhythm disturbances, and some experience recurrent infections. Premature death due to cardiac arrhythmia or epilepsy may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal recessive, 86.",
"acronym": "DFNB86.",
"accession": "DI-04026",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 84B.",
"acronym": "DFNB84B.",
"accession": "DI-03565",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by congenital, non- progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Atrial fibrillation, familial, 18.",
"acronym": "ATFB18.",
"accession": "DI-04898",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Jaberi-Elahi syndrome.",
"acronym": "JABELS.",
"accession": "DI-05251",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by developmental delay and intellectual disability. Additional variable features include ataxic gait and abnormal movements, visual impairment, microcephaly, abnormal foot or hand posturing, kyphoscoliosis, dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal recessive, 76.",
"acronym": "DFNB76.",
"accession": "DI-03957",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural deafness, a disorder resulting from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
}
]
}