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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4600&ordering=synonyms",
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"results": [
{
"identifier": "IgA nephropathy 3.",
"acronym": "IGAN3.",
"accession": "DI-04653",
"synonyms": null,
"cross_references": "MeSH; D005922.",
"definition": "A form of IgA nephropathy, a common primary glomerulonephritis characterized by glomerular sclerosis, interstitial fibrosis, and mesangial glomerular deposits of immunoglobulin A and immunoglobulin G visible on renal biopsies. IgA nephropathy is associated with renal insufficiency that can progress to end-stage renal disease. Proteinuria and hematuria are characteristic clinical presentations. ",
"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": "IgA nephropathy.",
"acronym": "IgAN.",
"accession": "DI-01809",
"synonyms": null,
"cross_references": "MedGen; C3160719.",
"definition": "Most common primary glomerulonephritis, which is partly due to aberrant or incomplete galactosylation of IgA1 molecules. ",
"keywords": null
},
{
"identifier": "IFAP syndrome 2.",
"acronym": "IFAP2.",
"accession": "DI-05917",
"synonyms": null,
"cross_references": "MeSH; D020795.",
"definition": "An autosomal dominant form of IFAP syndrome, a disease characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. IFAP2 patients manifest ichthyosis follicularis or follicular hyperkeratosis, hyperkeratotic plaques, sparse to no body hair, and photophobia with punctate corneal epithelial defects, corneal pannus, and complicated cataract. Ultrastructural hair analysis shows trichorrhexis nodosa. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Idiopathic scoliosis 3.",
"acronym": "IS3.",
"accession": "DI-02881",
"synonyms": null,
"cross_references": "MeSH; D012600.",
"definition": "An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees. ",
"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": "Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies.",
"acronym": "IKSHD.",
"accession": "DI-05630",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 2.",
"acronym": "MRD2.",
"accession": "DI-03185",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"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.; "
},
{
"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": "Ichthyosis, spastic quadriplegia, and impaired intellectual development.",
"acronym": "ISQMR.",
"accession": "DI-03376",
"synonyms": null,
"cross_references": "MeSH; D010264.",
"definition": "A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. ",
"keywords": "KW-0977:Ichthyosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 9.",
"acronym": "ARCI9.",
"accession": "DI-03828",
"synonyms": null,
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"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 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": "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 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 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": "Ichthyosis, congenital, autosomal recessive 14.",
"acronym": "ARCI14.",
"accession": "DI-05040",
"synonyms": null,
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 13.",
"acronym": "ARCI13.",
"accession": "DI-05041",
"synonyms": null,
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Cardiac conduction disease with or without dilated cardiomyopathy.",
"acronym": "CCDD.",
"accession": "DI-04282",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
}
]
}