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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4080",
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"results": [
{
"identifier": "Microcephaly 3, primary, autosomal recessive.",
"acronym": "MCPH3.",
"accession": "DI-02206",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "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. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 4, primary, autosomal recessive.",
"acronym": "MCPH4.",
"accession": "DI-02860",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "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. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 5, primary, autosomal recessive.",
"acronym": "MCPH5.",
"accession": "DI-00752",
"synonyms": "Microcephaly primary autosomal recessive 5 with simplified gyral pattern.; ",
"cross_references": "MeSH; D008831.",
"definition": "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. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 6, primary, autosomal recessive.",
"acronym": "MCPH6.",
"accession": "DI-02207",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "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. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 7, primary, autosomal recessive.",
"acronym": "MCPH7.",
"accession": "DI-00753",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "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. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 8, primary, autosomal recessive.",
"acronym": "MCPH8.",
"accession": "DI-03470",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "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. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 9, primary, autosomal recessive.",
"acronym": "MCPH9.",
"accession": "DI-03546",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "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. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly, Amish type.",
"acronym": "MCPHA.",
"accession": "DI-00750",
"synonyms": "Amish lethal microcephaly.; ",
"cross_references": "MeSH; D008831.",
"definition": "A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year. ",
"keywords": null
},
{
"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": "Microcephaly and chorioretinopathy, autosomal recessive, 2.",
"acronym": "MCCRP2.",
"accession": "DI-04299",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A severe disorder characterized by microcephaly, delayed psychomotor development, growth retardation with dwarfism, and ocular abnormalities. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"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": "Microcephaly-capillary malformation syndrome.",
"acronym": "MICCAP.",
"accession": "DI-03797",
"synonyms": null,
"cross_references": "MeSH; D054079.",
"definition": "A congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects. ",
"keywords": null
},
{
"identifier": "Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum.",
"acronym": "MCIDDS.",
"accession": "DI-05464",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by cognitive impairment, attention deficit-hyperactivity disorder, microcephaly, growth retardation, congenital cataract, and dystonia. Brain MRI shows unusual thinning of the lentiform nucleus, predominantly involving the putamen, and swelling in the caudate heads. ",
"keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Microcephaly, congenital cataract, and psoriasiform dermatitis.",
"acronym": "MCCPD.",
"accession": "DI-04663",
"synonyms": "SC4MOL deficiency.; ",
"cross_references": "MeSH; D008052.",
"definition": "An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Microcephaly, developmental delay, and brittle hair syndrome.",
"acronym": "MDBH.",
"accession": "DI-05847",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by developmental delay, motor and cognitive disabilities, brittle hair and nails, failure to thrive, and short stature. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"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": "Microcephaly, epilepsy, and diabetes syndrome 2.",
"acronym": "MEDS2.",
"accession": "DI-06083",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "An autosomal recessive disorder characterized by neonatal or early- onset diabetes, severe microcephaly, and epilepsy. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0887:Epilepsy.; "
},
{
"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, 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.; "
}
]
}