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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4020&ordering=synonyms",
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"results": [
{
"identifier": "Joubert syndrome 32.",
"acronym": "JBTS32.",
"accession": "DI-05134",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS32 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 31.",
"acronym": "JBTS31.",
"accession": "DI-05136",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS31 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 30.",
"acronym": "JBTS30.",
"accession": "DI-05051",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS30 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Deafness, dystonia, and cerebral hypomyelination.",
"acronym": "DDCH.",
"accession": "DI-03930",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An X-linked recessive syndrome characterized by sensorineural deafness, intellectual disability, dysmorphic facial features, dystonia, pyramidal signs, almost no psychomotor development, and hypomyelination on brain imaging. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Atrial fibrillation, familial, 7.",
"acronym": "ATFB7.",
"accession": "DI-00149",
"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 3.",
"acronym": "JBTS3.",
"accession": "DI-00606",
"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. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 29.",
"acronym": "JBTS29.",
"accession": "DI-05036",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS29 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Metacarpal 4-5 fusion.",
"acronym": "MF4.",
"accession": "DI-03931",
"synonyms": null,
"cross_references": "MeSH; D006228.",
"definition": "A rare congenital malformation of the hand characterized by the partial or complete fusion of the fourth and fifth metacarpals. The anomaly occurs as an isolated trait or part of a syndrome. ",
"keywords": null
},
{
"identifier": "Joubert syndrome 28.",
"acronym": "JBTS28.",
"accession": "DI-04820",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 27.",
"acronym": "JBTS27.",
"accession": "DI-04819",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS27 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Deafness, congenital, unilateral or asymmetric.",
"acronym": "DCUA.",
"accession": "DI-04598",
"synonyms": null,
"cross_references": "MeSH; D046088.",
"definition": "An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Joubert syndrome 26.",
"acronym": "JBTS26.",
"accession": "DI-04615",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS26 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 25.",
"acronym": "JBTS25.",
"accession": "DI-04607",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS25 clinical manifestations appear to be confined to the neurologic system. JBTS25 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 24.",
"acronym": "JBTS24.",
"accession": "DI-04579",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 23.",
"acronym": "JBTS23.",
"accession": "DI-04495",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A mild form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Deafness, congenital, and adult-onset progressive leukoencephalopathy.",
"acronym": "DEAPLE.",
"accession": "DI-06032",
"synonyms": null,
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive, complex neurodegenerative disorder characterized by congenital sensorineural deafness, and progressive motor and cognitive decline apparent in young adulthood. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy. Premature death may occurr in some patients. ",
"keywords": "KW-0209:Deafness.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Deafness, congenital heart defects, and posterior embryotoxon.",
"acronym": "DCHE.",
"accession": "DI-05252",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Joubert syndrome 22.",
"acronym": "JBTS22.",
"accession": "DI-04020",
"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, renal disease, liver fibrosis, and polydactyly. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Deafness, cataract, impaired intellectual development, and polyneuropathy.",
"acronym": "DCIDP.",
"accession": "DI-06133",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive disease characterized by early onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Joubert syndrome 21.",
"acronym": "JBTS21.",
"accession": "DI-04019",
"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, renal disease, liver fibrosis, and polydactyly. ",
"keywords": "KW-0979:Joubert syndrome.; "
}
]
}