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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4080&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": "Microcephaly 27, primary, autosomal dominant.",
"acronym": "MCPH27.",
"accession": "DI-06045",
"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. MCPH27 is an autosomal dominant form apparent in early childhood and associated with global developmental delay, delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Brain imaging may show enlarged ventricles or gyral abnormalities in some patients. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"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 30, primary, autosomal recessive.",
"acronym": "MCPH30.",
"accession": "DI-06562",
"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. MCPH30 is characterized by small head, poor overall growth, and global developmental delay with variably impaired intellectual development. Affected individuals may also have variable congenital anomalies, including atrial septal defect, dysmorphic facial features, tracheal stenosis, and anomalies of the skin and teeth. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"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": "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": "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": "Mitochondrial complex III deficiency, nuclear type 2.",
"acronym": "MC3DN2.",
"accession": "DI-03738",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"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": "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": "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 and chorioretinopathy, autosomal recessive, 1.",
"acronym": "MCCRP1.",
"accession": "DI-03393",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life. ",
"keywords": null
},
{
"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 and chorioretinopathy, autosomal recessive, 3.",
"acronym": "MCCRP3.",
"accession": "DI-04411",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties. ",
"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.; "
}
]
}