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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4060&ordering=synonyms",
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"results": [
{
"identifier": "Atrial fibrillation, familial, 6.",
"acronym": "ATFB6.",
"accession": "DI-00148",
"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": "Atrial fibrillation, familial, 4.",
"acronym": "ATFB4.",
"accession": "DI-00147",
"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": "Joubert syndrome 16.",
"acronym": "JBTS16.",
"accession": "DI-03315",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by 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 polydactyly. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 15.",
"acronym": "JBTS15.",
"accession": "DI-03314",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive 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, renal disease, liver fibrosis and polydactyly. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Microcephaly 11, primary, autosomal recessive.",
"acronym": "MCPH11.",
"accession": "DI-03890",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 12, primary, autosomal recessive.",
"acronym": "MCPH12.",
"accession": "DI-04262",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Joubert syndrome 14.",
"acronym": "JBTS14.",
"accession": "DI-03313",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder characterized by severe intellectual disability, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. 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 renal disease, abnormal eye movements, and postaxial polydactyly. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Microcephaly 14, primary, autosomal recessive.",
"acronym": "MCPH14.",
"accession": "DI-04446",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Joubert syndrome 13.",
"acronym": "JBTS13.",
"accession": "DI-03232",
"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 17, primary, autosomal recessive.",
"acronym": "MCPH17.",
"accession": "DI-04821",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH17 is a severe form characterized by lissencephaly, enlarged ventricles, agenesis of the corpus callosum, cerebellar hypoplasia, and brainstem hypoplasia. Patients manifest delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Deafness, autosomal recessive, 94.",
"acronym": "DFNB94.",
"accession": "DI-05552",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Microcephaly 19, primary, autosomal recessive.",
"acronym": "MCPH19.",
"accession": "DI-05157",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Joubert syndrome 12.",
"acronym": "JBTS12.",
"accession": "DI-03219",
"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 20, primary, autosomal recessive.",
"acronym": "MCPH20.",
"accession": "DI-05207",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH20 features include mild to moderate intellectual disability, autistic features, poor speech. Disease severity is highly variable. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Knobloch syndrome 2.",
"acronym": "KNO2.",
"accession": "DI-06463",
"synonyms": null,
"cross_references": "MeSH; D012163.",
"definition": "An autosomal dominant form of Knobloch syndrome characterized by high myopia, vitreoretinal degeneration, retinal detachment, occipital encephalocele or scalp lesions, and mild to severe psychomotor delay. ",
"keywords": null
},
{
"identifier": "Microcephaly 22, primary, autosomal recessive.",
"acronym": "MCPH22.",
"accession": "DI-05235",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"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, growth restriction, and increased sister chromatid exchange 2.",
"acronym": "MGRISCE2.",
"accession": "DI-05320",
"synonyms": null,
"cross_references": "MeSH; D049914.",
"definition": "An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"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": "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.; "
}
]
}