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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1520&ordering=-synonyms",
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"results": [
{
"identifier": "Cortical malformations occipital.",
"acronym": "OCCM.",
"accession": "DI-03207",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "A disease in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 10.",
"acronym": "CDCBM10.",
"accession": "DI-05688",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM10 is clinically characterized by onset in infancy of global developmental delay, impaired intellectual development, seizures, inability to ambulate, and absent language. Brain imaging shows lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. ",
"keywords": "KW-0451:Lissencephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 11.",
"acronym": "CDCBM11.",
"accession": "DI-06564",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM11 is characterized by dilated ventricles and reduced white matter, and is associated with axonal developmental defects. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 12.",
"acronym": "CDCBM12.",
"accession": "DI-06642",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM12 is characterized by severe to profound neurodevelopmental delay, microcephaly, cortical visual impairment, craniofacial dysmorphism, and seizures. Brain imaging shows lissencephaly, severe hypoplasia or absence of the corpus callosum, cerebellar hypodysplasia, and dysplasia of the basal ganglia, hippocampus and midbrain. ",
"keywords": "KW-0451:Lissencephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Carboxypeptidase N deficiency.",
"acronym": "CPND.",
"accession": "DI-01316",
"synonyms": null,
"cross_references": "MedGen; C0398782.",
"definition": "Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder. ",
"keywords": null
},
{
"identifier": "Alpha-thalassemia.",
"acronym": "A-THAL.",
"accession": "DI-01181",
"synonyms": null,
"cross_references": "MeSH; D017085.",
"definition": "A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)- thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha- globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non- deletional alpha-thalassemia). ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Arthrogryposis, distal, 11.",
"acronym": "DA11.",
"accession": "DI-06491",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA11 is an autosomal dominant form characterized mainly by camptodactyly. Other features include absent flexion creases and limited forearm supination. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal recessive, 102.",
"acronym": "DFNB102.",
"accession": "DI-04190",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. Vestibular function is unaffected. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 2.",
"acronym": "CDCBM2.",
"accession": "DI-03883",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 3.",
"acronym": "CDCBM3.",
"accession": "DI-03884",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset epilepsy, and various malformations of cortical development such as agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 4.",
"acronym": "CDCBM4.",
"accession": "DI-03885",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 5.",
"acronym": "CDCBM5.",
"accession": "DI-04097",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 6.",
"acronym": "CDCBM6.",
"accession": "DI-04083",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria. ",
"keywords": null
},
{
"identifier": "Cardiac, facial, and digital anomalies with developmental delay.",
"acronym": "CAFDADD.",
"accession": "DI-05370",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disorder characterized by delayed motor and speech development, developmental regression, congenital heart defects, limb and digital anomalies, and dysmorphic features. Cardiac features include pulmonary stenosis, patent ductus arteriosus, aortic coarctation, valvular defects, hypoplastic left heart, double outlet right ventricle, and conduction abnormalities. Dysmorphic facial features include multiple hair whorls or hairline abnormalities, ptosis, epicanthal folds, and low-set or dysplastic ears. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 9.",
"acronym": "CDCBM9.",
"accession": "DI-05375",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder characterized by neurodevelopmental delay apparent from early infancy, acquired microcephaly, hypotonic cerebral palsy, inability to ambulate or speak, and intractable seizures. Brain imaging shows pachygyria with severe cortical gray matter thickening, paucity of gyri without an obvious posterior- anterior gradient or focal dysplasias, hypogenesis of the corpus callosum, and cerebellar hypoplasia. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Cardiac-urogenital syndrome.",
"acronym": "CUGS.",
"accession": "DI-05461",
"synonyms": null,
"cross_references": "MeSH; D014564.",
"definition": "An autosomal dominant syndrome characterized by partial anomalous pulmonary venous return, tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. ",
"keywords": null
},
{
"identifier": "Cardioacrofacial dysplasia 1.",
"acronym": "CAFD1.",
"accession": "DI-05997",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. ",
"keywords": null
},
{
"identifier": "Corticosterone methyloxidase 2 deficiency.",
"acronym": "CMO-2 deficiency.",
"accession": "DI-01435",
"synonyms": null,
"cross_references": "MedGen; CN074247.",
"definition": "Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18- hydroxycorticosterone in serum. ",
"keywords": null
},
{
"identifier": "Cortisone reductase deficiency 1.",
"acronym": "CORTRD1.",
"accession": "DI-01436",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic-pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo-amenorrhea, and infertility in females and premature pseudopuberty in males. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked 110.",
"acronym": "XLID110.",
"accession": "DI-06576",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}